The pathological consequences of impaired genome integrity in humans; disorders of the DNA replication machinery

Accurate and efficient replication of the human genome occurs in the context of an array of constitutional barriers, including regional topological constraints imposed by chromatin architecture and processes such as transcription, catenation of the helical polymer and spontaneously generated DNA les...

Full description

Saved in:
Bibliographic Details
Published inThe Journal of pathology Vol. 241; no. 2; pp. 192 - 207
Main Author O'Driscoll, Mark
Format Journal Article
LanguageEnglish
Published Chichester, UK John Wiley & Sons, Ltd 01.01.2017
Wiley Subscription Services, Inc
Subjects
Animals
cancer
Cell Transformation, Neoplastic
Chromatin - genetics
DNA Repair
DNA Replication
genomic instability
Genomic Instability - genetics
growth retardation
Humans
mutagenesis
Mutation - genetics
origins
pre‐replication complex
replication stress
R‐loops
replication stress
pre-replication complex
origins
cancer
growth retardation
R-loops
genomic instability
mutagenesis
Online AccessGet full text

Cover

Abstract Accurate and efficient replication of the human genome occurs in the context of an array of constitutional barriers, including regional topological constraints imposed by chromatin architecture and processes such as transcription, catenation of the helical polymer and spontaneously generated DNA lesions, including base modifications and strand breaks. DNA replication is fundamentally important for tissue development and homeostasis; differentiation programmes are intimately linked with stem cell division. Unsurprisingly, impairments of the DNA replication machinery can have catastrophic consequences for genome stability and cell division. Functional impacts on DNA replication and genome stability have long been known to play roles in malignant transformation through a variety of complex mechanisms, and significant further insights have been gained from studying model organisms in this context. Congenital hypomorphic defects in components of the DNA replication machinery have been and continue to be identified in humans. These disorders present with a wide range of clinical features. Indeed, in some instances, different mutations in the same gene underlie different clinical presentations. Understanding the origin and molecular basis of these features opens a window onto the range of developmental impacts of suboptimal DNA replication and genome instability in humans. Here, I will briefly overview the basic steps involved in DNA replication and the key concepts that have emerged from this area of research, before switching emphasis to the pathological consequences of defects within the DNA replication network; the human disorders. Copyright © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
AbstractList Accurate and efficient replication of the human genome occurs in the context of an array of constitutional barriers, including regional topological constraints imposed by chromatin architecture and processes such as transcription, catenation of the helical polymer and spontaneously generated DNA lesions, including base modifications and strand breaks. DNA replication is fundamentally important for tissue development and homeostasis; differentiation programmes are intimately linked with stem cell division. Unsurprisingly, impairments of the DNA replication machinery can have catastrophic consequences for genome stability and cell division. Functional impacts on DNA replication and genome stability have long been known to play roles in malignant transformation through a variety of complex mechanisms, and significant further insights have been gained from studying model organisms in this context. Congenital hypomorphic defects in components of the DNA replication machinery have been and continue to be identified in humans. These disorders present with a wide range of clinical features. Indeed, in some instances, different mutations in the same gene underlie different clinical presentations. Understanding the origin and molecular basis of these features opens a window onto the range of developmental impacts of suboptimal DNA replication and genome instability in humans. Here, I will briefly overview the basic steps involved in DNA replication and the key concepts that have emerged from this area of research, before switching emphasis to the pathological consequences of defects within the DNA replication network; the human disorders. Copyright © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
Accurate and efficient replication of the human genome occurs in the context of an array of constitutional barriers, including regional topological constraints imposed by chromatin architecture and processes such as transcription, catenation of the helical polymer and spontaneously generated DNA lesions, including base modifications and strand breaks. DNA replication is fundamentally important for tissue development and homeostasis; differentiation programmes are intimately linked with stem cell division. Unsurprisingly, impairments of the DNA replication machinery can have catastrophic consequences for genome stability and cell division. Functional impacts on DNA replication and genome stability have long been known to play roles in malignant transformation through a variety of complex mechanisms, and significant further insights have been gained from studying model organisms in this context. Congenital hypomorphic defects in components of the DNA replication machinery have been and continue to be identified in humans. These disorders present with a wide range of clinical features. Indeed, in some instances, different mutations in the same gene underlie different clinical presentations. Understanding the origin and molecular basis of these features opens a window onto the range of developmental impacts of suboptimal DNA replication and genome instability in humans. Here, I will briefly overview the basic steps involved in DNA replication and the key concepts that have emerged from this area of research, before switching emphasis to the pathological consequences of defects within the DNA replication network; the human disorders.
Author O'Driscoll, Mark
Author_xml – sequence: 1
  givenname: Mark
  surname: O'Driscoll
  fullname: O'Driscoll, Mark
  email: m.o-driscoll@sussex.ac.uk
  organization: University of Sussex
BackLink https://www.ncbi.nlm.nih.gov/pubmed/27757957$$D View this record in MEDLINE/PubMed
BookMark eNp1kU1P4zAQQC3ECkrhwB9Alriwh4Dt2IktTlVZYKVql0M5R04yaY0SO9iJUP89DgUOK-1pRpo3T_Nxgg6ts4DQOSXXlBB20-the80lkwdoRonKEiVVdohmscaSlNP8GJ2E8EIIUUqII3TM8lzkSuQz1K-3gKd-17qNqXSLK2cDvI5gKwjYNdh0vTYearwB6zrAxg6w8WbYxQxvx07bcItrE5yvwX90DFF592eBPfRtVA7GWdzpamss-N0p-tHoNsDZZ5yj5_tf6-Vjsvr78Hu5WCUVl7lMMskFk7qRAnKuS0myMq3SlAHJGkXTjJZcsZJrCnEpoVPJgYhGCSZ0AzVV6Rxd7b29d3GbMBSdCRW0rbbgxlBQKRTP00zxiF7-g7640ds43UQRknHGJuHPPVV5F4KHpui96bTfFZQU0xuK6YzF9IbIXnwax7KD-pv8unsEbvbAm2lh939T8bRYP34o3wESxpPi
CitedBy_id crossref_primary_10_1016_j_ajhg_2019_03_006
crossref_primary_10_1002_path_4849
crossref_primary_10_1002_path_5097
crossref_primary_10_1016_j_dnarep_2018_10_001
crossref_primary_10_1093_hmg_ddac082
crossref_primary_10_1101_gad_301325_117
crossref_primary_10_1038_s41467_022_34349_8
crossref_primary_10_7554_eLife_61171
crossref_primary_10_1074_jbc_M117_787473
Cites_doi 10.1002/ajmg.1320120103
10.1101/cshperspect.a019836
10.1007/s00412-005-0024-6
10.1038/ncomms1155
10.1371/journal.pgen.1003034
10.1016/j.blre.2010.03.002
10.1038/ng1129
10.1038/ncomms8744
10.1101/gad.214080.113
10.1083/jcb.200404092
10.1146/annurev-biochem-060713-035428
10.1038/nrg3961
10.1016/j.cell.2011.03.044
10.1021/cb5009684
10.1093/hmg/ddw034
10.1016/j.cell.2005.05.015
10.1002/ajmg.c.31397
10.1101/gad.1839909
10.1016/0140-6736(92)91266-B
10.1038/ejhg.2008.154
10.1146/annurev-biochem-060815-014908
10.1007/978-1-4614-5037-5_8
10.1016/j.cub.2014.04.012
10.1016/j.semcdb.2014.03.008
10.1016/j.ceb.2007.04.007
10.1038/ng.777
10.1038/ng821
10.3109/10409238.2012.655374
10.1093/hmg/dds033
10.1074/jbc.M512705200
10.1371/journal.pgen.1000327
10.1002/ajmg.a.37214
10.1038/nature01747
10.1146/annurev.biochem.66.1.61
10.3109/10409231003786086
10.1016/j.dnarep.2010.09.012
10.18632/oncotarget.9008
10.1101/gr.160572.113
10.1126/science.280.5363.593
10.1126/science.8484122
10.1136/jmedgenet-2012-100803
10.1038/nrm2858
10.1038/nsmb.2543
10.1016/S0022-3476(05)81040-6
10.1172/JCI74593
10.1016/j.ajhg.2015.11.006
10.1101/gad.1860609
10.1136/jmg.2009.076646
10.1016/j.cell.2004.12.010
10.1016/j.ydbio.2007.02.003
10.1016/j.dnarep.2013.04.016
10.1016/0092-8674(95)90105-1
10.1074/jbc.M109.048330
10.1101/sqb.2002.67.327
10.1002/bies.10208
10.1038/nature11676
10.1186/1750-1172-5-2
10.1038/nrm2450
10.1016/j.ajhg.2010.08.004
10.1038/45836
10.1016/0092-8674(92)90450-Q
10.1101/gad.1609107
10.1016/S0955-0674(02)00326-5
10.1146/annurev.genet.41.042007.165900
10.1006/scbi.1996.0003
10.1016/j.ccr.2007.07.013
10.1002/ar.20634
10.1038/nrn2097
10.1016/j.gene.2016.06.031
10.1038/ncomms9548
10.1371/journal.pgen.1002945
10.1371/journal.pgen.1002310
10.1038/ng.2670
10.1038/ncb3378
10.1371/journal.pone.0063149
10.1101/cshperspect.a012583
10.1074/jbc.C300549200
10.1101/cshperspect.a012732
10.1016/j.arr.2016.03.002
10.1038/ncomms10660
10.1016/0092-8674(93)90330-S
10.1074/jbc.M313175200
10.1007/s00412‐016‐0573‐x
10.1016/j.cell.2012.04.030
10.1002/path.4185
10.1101/gad.1836409
10.1016/j.molcel.2015.12.026
10.4161/cc.28212
10.1016/j.molcel.2014.10.020
10.1016/0092-8674(93)90546-3
10.1038/ng.3558
10.1016/j.yexcr.2014.09.019
10.1038/sj.ejhg.5200701
10.1016/j.dnarep.2009.09.001
10.1083/jcb.201507099
10.1038/ng.420
10.7554/eLife.00882
10.1371/journal.pgen.1003360
10.1038/nature09745
10.1016/j.tcb.2015.05.003
10.1002/humu.22833
10.1016/j.cancergen.2015.10.001
10.1038/nrc.2015.12
10.1016/j.molonc.2011.07.002
10.1097/00005792-199311000-00003
10.1073/pnas.0911500106
10.1002/ajmg.1452
10.1186/1747-1028-1-22
10.1073/pnas.0602400103
10.1016/j.cell.2011.03.041
10.1172/JCI58928
10.1016/j.metabol.2014.07.010
10.1038/ng.725
10.1136/jmedgenet-2014-102921
10.1016/j.dnarep.2015.04.016
10.3109/10409230903578593
10.1242/jcs.03031
10.1101/cshperspect.a012708
10.1016/j.molcel.2012.05.047
10.1016/j.tibs.2011.05.002
10.1128/MCB.01503-12
10.1016/j.metabol.2015.07.022
10.1007/s004310050001
10.1101/gad.204750.112
10.1016/j.molcel.2011.05.019
10.1016/j.molcel.2010.07.015
10.1038/ncb1346
10.1136/jmg.38.3.209
10.1002/humu.22858
10.1074/jbc.M110.199521
10.1128/MCB.02267-05
10.1634/stemcells.2007-0483
10.1126/science.1140735
10.1016/j.gde.2013.05.007
10.1002/ajmg.a.35681
10.1016/S1097-2765(02)00467-7
10.1016/S0070-2153(08)00811-9
10.1038/nrc2500
10.1093/emboj/cdg497
10.1093/emboj/20.11.2857
10.1038/ng2084
10.1101/gad.1831509
10.1016/j.gde.2012.01.009
10.1128/MCB.01834-08
10.1210/jc.2010-0419
10.1111/j.1399-0004.2005.00508.x
10.1038/ejhg.2011.269
10.1093/hmg/ddh335
10.1038/ng.776
10.1016/j.cell.2013.10.043
10.1016/j.ccr.2012.05.015
10.1016/j.ceb.2012.01.011
10.1016/j.cell.2007.05.003
10.1016/j.bone.2011.08.025
10.1038/onc.2010.125
10.1016/j.ceb.2015.05.007
10.1038/emboj.2011.493
10.1093/hmg/ddt131
10.1146/annurev-med-100708-204735
10.1038/onc.2012.387
10.1038/ng1936
10.1016/j.ajhg.2014.11.002
10.1371/journal.pgen.1002247
10.1172/JCI61014
10.1016/j.semcdb.2011.07.010
10.1038/nrg2593
10.1242/dev.02732
10.1126/science.8484121
10.1016/j.ajhg.2012.12.014
10.1002/9780470015902.a0024976
10.1101/gad.195248.112
10.1038/ng.775
10.1038/sj.ejhg.5200267
10.1126/science.1073834
10.1016/j.stem.2007.03.002
10.1172/JCI78473
10.1016/j.molcel.2012.05.048
10.1016/j.cell.2014.03.048
10.1016/j.tcb.2008.08.005
10.1093/hmg/ddh062
10.1101/cshperspect.a012799
10.4161/nucl.1.3.11739
10.1016/j.cell.2012.05.021
10.1101/gad.1832309
10.1101/gad.1508907
10.1126/science.1083430
10.1007/978-1-4939-1680-1_10
10.1002/jor.20855
10.1016/j.cell.2009.10.015
10.1016/j.molcel.2015.07.030
10.1006/dbio.2000.9965
10.1038/nature10956
10.1038/nrc2682
10.1016/S0140-6736(71)90400-4
10.1093/emboj/21.9.2168
10.1038/embor.2009.5
10.1002/humu.22245
10.1016/j.ajhg.2016.05.019
10.1172/JCI60224
10.1128/MCB.25.4.1560-1568.2005
10.1101/gad.178459.111
10.1007/s004290100169
10.1146/annurev.genet.41.110306.130308
10.1126/science.8484120
10.1038/ng.2503
10.1146/annurev.biochem.052308.103205
10.1136/jmg.2011.088864
10.1038/sj.emboj.7601396
10.1038/ncomms3065
10.1038/nrc3916
10.3389/fgene.2013.00019
10.1038/nature08467
10.1074/jbc.M113.511337
10.1086/518696
ContentType Journal Article
Copyright Copyright © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
Copyright © 2017 Pathological Society of Great Britain and Ireland
Copyright_xml – notice: Copyright © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
– notice: Copyright © 2017 Pathological Society of Great Britain and Ireland
DBID CGR
CUY
CVF
ECM
EIF
NPM
AAYXX
CITATION
7QP
7QR
7T5
7TK
7TM
7TO
8FD
FR3
H94
K9.
P64
RC3
DOI 10.1002/path.4828
DatabaseName Medline
MEDLINE
MEDLINE (Ovid)
MEDLINE
MEDLINE
PubMed
CrossRef
Calcium & Calcified Tissue Abstracts
Chemoreception Abstracts
Immunology Abstracts
Neurosciences Abstracts
Nucleic Acids Abstracts
Oncogenes and Growth Factors Abstracts
Technology Research Database
Engineering Research Database
AIDS and Cancer Research Abstracts
ProQuest Health & Medical Complete (Alumni)
Biotechnology and BioEngineering Abstracts
Genetics Abstracts
DatabaseTitle MEDLINE
Medline Complete
MEDLINE with Full Text
PubMed
MEDLINE (Ovid)
CrossRef
Genetics Abstracts
Oncogenes and Growth Factors Abstracts
Technology Research Database
Nucleic Acids Abstracts
AIDS and Cancer Research Abstracts
ProQuest Health & Medical Complete (Alumni)
Chemoreception Abstracts
Immunology Abstracts
Engineering Research Database
Calcium & Calcified Tissue Abstracts
Neurosciences Abstracts
Biotechnology and BioEngineering Abstracts
DatabaseTitleList Genetics Abstracts

MEDLINE
Genetics Abstracts
CrossRef
Database_xml – sequence: 1
  dbid: NPM
  name: PubMed
  url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed
  sourceTypes: Index Database
– sequence: 2
  dbid: EIF
  name: MEDLINE
  url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search
  sourceTypes: Index Database
DeliveryMethod fulltext_linktorsrc
Discipline Medicine
EISSN 1096-9896
EndPage 207
ExternalDocumentID 4281610721
10_1002_path_4828
27757957
PATH4828
Genre reviewArticle
Journal Article
Review
GrantInformation_xml – fundername: Cancer Research UK
  funderid: C24110/A15394
– fundername: Cancer Research UK
  grantid: 15394
GroupedDBID ---
-~X
.3N
.55
.GA
.GJ
.Y3
05W
0R~
10A
123
1KJ
1L6
1OB
1OC
1ZS
29L
31~
33P
3O-
3SF
3UE
3WU
4.4
4ZD
50Y
50Z
51W
51X
52M
52N
52O
52P
52R
52S
52T
52U
52V
52W
52X
53G
5RE
5VS
66C
702
7PT
8-0
8-1
8-3
8-4
8-5
8UM
930
A01
A03
AAESR
AAEVG
AAHHS
AANLZ
AAONW
AASGY
AAXRX
AAZKR
ABCQN
ABCUV
ABEML
ABIJN
ABJNI
ABLJU
ABQWH
ABXGK
ACAHQ
ACBWZ
ACCFJ
ACCZN
ACFBH
ACGFS
ACGOF
ACIWK
ACMXC
ACPOU
ACPRK
ACSCC
ACXBN
ACXQS
ADBBV
ADBTR
ADEOM
ADIZJ
ADKYN
ADMGS
ADOZA
ADXAS
ADZMN
AEEZP
AEIGN
AEIMD
AENEX
AEQDE
AEUQT
AEUYR
AFBPY
AFFNX
AFFPM
AFGKR
AFPWT
AFRAH
AFZJQ
AHBTC
AHMBA
AI.
AIACR
AITYG
AIURR
AIWBW
AJBDE
ALAGY
ALMA_UNASSIGNED_HOLDINGS
ALUQN
AMBMR
AMYDB
ASPBG
ATUGU
AVWKF
AZBYB
AZFZN
AZVAB
BAFTC
BDRZF
BFHJK
BHBCM
BMXJE
BROTX
BRXPI
BY8
C45
CS3
D-6
D-7
D-E
D-F
DCZOG
DPXWK
DR2
DRFUL
DRMAN
DRSTM
DU5
EBS
EJD
EMOBN
F00
F01
F04
F5P
FEDTE
FUBAC
G-S
G.N
GNP
GODZA
GSXLS
H.X
HBH
HF~
HGLYW
HHY
HHZ
HVGLF
HZ~
IX1
J0M
J5H
JPC
KBYEO
KQQ
L7B
LATKE
LAW
LC2
LC3
LEEKS
LH4
LITHE
LOXES
LP6
LP7
LUTES
LW6
LYRES
M68
MEWTI
MK4
MRFUL
MRMAN
MRSTM
MSFUL
MSMAN
MSSTM
MVM
MXFUL
MXMAN
MXSTM
N04
N05
N9A
NF~
NNB
O66
O9-
OHT
OIG
OVD
P2P
P2W
P2X
P2Z
P4B
P4D
PALCI
PQQKQ
Q.N
Q11
QB0
QRW
R.K
RIWAO
RJQFR
ROL
RWI
RX1
SAMSI
SUPJJ
SV3
TEORI
UB1
V2E
VH1
W8V
W99
WBKPD
WH7
WHWMO
WIB
WIH
WIJ
WIK
WJL
WOHZO
WQJ
WRC
WUP
WVDHM
WXI
WXSBR
X7M
XG1
XPP
XV2
YQI
YQJ
ZGI
ZXP
ZZTAW
~IA
~KM
~WT
CGR
CUY
CVF
ECM
EIF
NPM
AAMNL
AAYXX
ACRPL
CITATION
7QP
7QR
7T5
7TK
7TM
7TO
8FD
FR3
H94
K9.
P64
RC3
ID FETCH-LOGICAL-c4878-684528af85e74ab806b3c332e06f91361b492b4a1e0095a384e05f9525afed193
IEDL.DBID DR2
ISSN 0022-3417
IngestDate Wed Dec 04 15:01:23 EST 2024
Tue Nov 19 05:04:32 EST 2024
Fri Dec 06 02:37:13 EST 2024
Sat Nov 02 12:23:44 EDT 2024
Sat Aug 24 01:16:09 EDT 2024
IsDoiOpenAccess false
IsOpenAccess true
IsPeerReviewed true
IsScholarly true
Issue 2
Keywords replication stress
pre-replication complex
origins
cancer
growth retardation
R-loops
genomic instability
mutagenesis
Language English
License Copyright © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
LinkModel DirectLink
MergedId FETCHMERGED-LOGICAL-c4878-684528af85e74ab806b3c332e06f91361b492b4a1e0095a384e05f9525afed193
Notes ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
OpenAccessLink https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/path.4828
PMID 27757957
PQID 1850064229
PQPubID 1006392
PageCount 16
ParticipantIDs proquest_miscellaneous_1859473694
proquest_journals_1850064229
crossref_primary_10_1002_path_4828
pubmed_primary_27757957
wiley_primary_10_1002_path_4828_PATH4828
PublicationCentury 2000
PublicationDate January 2017
PublicationDateYYYYMMDD 2017-01-01
PublicationDate_xml – month: 01
  year: 2017
  text: January 2017
PublicationDecade 2010
PublicationPlace Chichester, UK
PublicationPlace_xml – name: Chichester, UK
– name: England
– name: Bognor Regis
PublicationTitle The Journal of pathology
PublicationTitleAlternate J Pathol
PublicationYear 2017
Publisher John Wiley & Sons, Ltd
Wiley Subscription Services, Inc
Publisher_xml – name: John Wiley & Sons, Ltd
– name: Wiley Subscription Services, Inc
References 2010; 11
2004; 165
2002; 14
1998; 280
2012; 484
2012; 122
2013; 4
2013; 2
2014; 24
1975; 11
2011; 470
2013; 8
2013; 5
2005; 68
2013; 9
1991; 119
2009; 10
2010; 1
2010; 24
2010; 29
2006; 25
2006; 26
2007; 8
2014; 13
2006; 281
2013; 230
2012; 26
1971; 2
2012; 24
2007; 1
2014; 95
2010; 5
2012; 22
2016; 48
2012; 21
2012; 20
2010; 9
2014; 124
2015; 59
2007; 19
2006; 119
2011; 2
2002; 9
2015; 125
2010; 39
1995; 57
2005; 114
2015; 52
2013; 92
2002; 4
2012; 158A
2016; 18
2012; 34
2016; 16
2011; 5
2007; 12
2001; 203
2011; 7
2012; 31
2003; 33
2001; 20
2014; 157
2016; 99
2010; 45
2012; 50
2016; 7
2004; 279
2010; 47
2005; 120
2005; 121
2015; 64
2002; 67
2000; 228
1993; 53
2003; 25
2007; 81
2001; 38
2016; 214
2012; 49
2009; 461
2012; 47
2014; 30
2011; 145
2016; 25
2003; 22
2006; 103
2009; 106
2007; 39
1982; 12
2015; 34
2001; 102
2015; 36
2009; 41
2007; 305
2013; 27
2013; 22
2013; 23
2013; 20
2015; 32
2008; 9
2013; 288
2008; 8
2014; 63
1999; 401
2010; 61
2005; 25
2007; 134
2014; 329
1993; 72
2013; 12
1993; 75
2008; 319
2013; 155
2016; 85
2011; 22
2009; 284
2007; 21
2014; 166
2014; 56
2007; 25
2011; 286
1996; 7
2016; 590
2009; 23
2008; 291
2015; 15
2015; 6
2007; 129
2015; 16
2010; 79
1997; 66
2002; 30
2002; 297
2000; 159
2013; 45
2015; 97
2008; 18
2015; 167
2015; 10
2008; 17
1993; 260
2006; 8
2015; 208
2006; 1
2011; 36
1999; 7
2014; 83
2012; 149
2009; 27
2009; 29
2009; 139
2010; 87
2015; 25
1995; 83
2013; 33
2013; 32
2002; 21
2001; 9
2004; 13
2009; 9
2011; 43
2009; 8
1992; 339
2016
2016; 61
2013; 493
1960
1992; 69
2015
2009; 5
2011; 48
2008; 85
2007; 41
2013
2003; 423
2003; 300
2010; 95
2012; 8
e_1_2_12_191_1
e_1_2_12_2_1
e_1_2_12_138_1
e_1_2_12_115_1
e_1_2_12_153_1
e_1_2_12_199_1
e_1_2_12_176_1
e_1_2_12_24_1
e_1_2_12_47_1
e_1_2_12_201_1
e_1_2_12_62_1
e_1_2_12_180_1
e_1_2_12_209_1
e_1_2_12_104_1
e_1_2_12_127_1
e_1_2_12_142_1
e_1_2_12_165_1
e_1_2_12_188_1
e_1_2_12_96_1
e_1_2_12_139_1
e_1_2_12_35_1
e_1_2_12_58_1
e_1_2_12_12_1
e_1_2_12_73_1
e_1_2_12_212_1
e_1_2_12_50_1
e_1_2_12_3_1
e_1_2_12_152_1
e_1_2_12_190_1
e_1_2_12_137_1
e_1_2_12_114_1
e_1_2_12_175_1
e_1_2_12_198_1
e_1_2_12_63_1
e_1_2_12_86_1
e_1_2_12_25_1
e_1_2_12_48_1
e_1_2_12_202_1
e_1_2_12_40_1
e_1_2_12_141_1
e_1_2_12_149_1
e_1_2_12_126_1
e_1_2_12_164_1
e_1_2_12_103_1
e_1_2_12_187_1
e_1_2_12_74_1
e_1_2_12_97_1
e_1_2_12_36_1
e_1_2_12_59_1
e_1_2_12_13_1
Gorlin R (e_1_2_12_85_1) 1975; 11
e_1_2_12_213_1
e_1_2_12_51_1
e_1_2_12_193_1
e_1_2_12_19_1
e_1_2_12_170_1
e_1_2_12_132_1
e_1_2_12_178_1
e_1_2_12_155_1
e_1_2_12_129_1
e_1_2_12_22_1
e_1_2_12_45_1
e_1_2_12_83_1
e_1_2_12_203_1
e_1_2_12_60_1
e_1_2_12_182_1
e_1_2_12_121_1
e_1_2_12_144_1
e_1_2_12_167_1
e_1_2_12_118_1
e_1_2_12_33_1
e_1_2_12_56_1
e_1_2_12_79_1
e_1_2_12_8_1
e_1_2_12_10_1
e_1_2_12_94_1
e_1_2_12_71_1
e_1_2_12_214_1
e_1_2_12_216_1
e_1_2_12_192_1
e_1_2_12_116_1
e_1_2_12_131_1
e_1_2_12_154_1
e_1_2_12_177_1
e_1_2_12_128_1
e_1_2_12_23_1
e_1_2_12_46_1
e_1_2_12_69_1
Verloes A (e_1_2_12_67_1) 2013
Seckel HPG (e_1_2_12_68_1) 1960
e_1_2_12_61_1
e_1_2_12_84_1
e_1_2_12_204_1
e_1_2_12_181_1
e_1_2_12_120_1
e_1_2_12_105_1
e_1_2_12_143_1
e_1_2_12_189_1
e_1_2_12_166_1
e_1_2_12_117_1
e_1_2_12_34_1
e_1_2_12_57_1
e_1_2_12_11_1
e_1_2_12_72_1
e_1_2_12_95_1
e_1_2_12_215_1
e_1_2_12_9_1
e_1_2_12_217_1
e_1_2_12_195_1
e_1_2_12_6_1
e_1_2_12_172_1
e_1_2_12_17_1
e_1_2_12_111_1
e_1_2_12_157_1
e_1_2_12_134_1
e_1_2_12_108_1
e_1_2_12_20_1
e_1_2_12_66_1
e_1_2_12_43_1
Ellis NA (e_1_2_12_146_1) 1995; 57
e_1_2_12_89_1
e_1_2_12_220_1
e_1_2_12_81_1
e_1_2_12_161_1
e_1_2_12_184_1
Amiel A (e_1_2_12_200_1) 2002; 4
e_1_2_12_205_1
e_1_2_12_100_1
e_1_2_12_123_1
e_1_2_12_169_1
e_1_2_12_28_1
e_1_2_12_31_1
e_1_2_12_77_1
e_1_2_12_54_1
e_1_2_12_92_1
e_1_2_12_171_1
e_1_2_12_194_1
e_1_2_12_218_1
e_1_2_12_18_1
e_1_2_12_110_1
e_1_2_12_179_1
e_1_2_12_133_1
e_1_2_12_156_1
e_1_2_12_21_1
e_1_2_12_44_1
e_1_2_12_107_1
e_1_2_12_221_1
e_1_2_12_82_1
e_1_2_12_206_1
e_1_2_12_160_1
e_1_2_12_183_1
e_1_2_12_122_1
e_1_2_12_168_1
e_1_2_12_29_1
Peltomäki P (e_1_2_12_130_1) 1993; 53
e_1_2_12_145_1
e_1_2_12_119_1
e_1_2_12_32_1
e_1_2_12_55_1
e_1_2_12_78_1
Gao J (e_1_2_12_106_1) 2015; 10
e_1_2_12_7_1
e_1_2_12_70_1
e_1_2_12_93_1
e_1_2_12_4_1
e_1_2_12_174_1
e_1_2_12_219_1
e_1_2_12_151_1
e_1_2_12_38_1
e_1_2_12_136_1
e_1_2_12_159_1
e_1_2_12_113_1
e_1_2_12_197_1
e_1_2_12_41_1
e_1_2_12_87_1
e_1_2_12_64_1
e_1_2_12_26_1
e_1_2_12_222_1
e_1_2_12_140_1
e_1_2_12_163_1
e_1_2_12_207_1
e_1_2_12_49_1
e_1_2_12_148_1
e_1_2_12_102_1
e_1_2_12_125_1
e_1_2_12_186_1
e_1_2_12_52_1
e_1_2_12_98_1
e_1_2_12_75_1
e_1_2_12_37_1
e_1_2_12_14_1
e_1_2_12_90_1
e_1_2_12_210_1
e_1_2_12_150_1
e_1_2_12_173_1
e_1_2_12_196_1
e_1_2_12_5_1
e_1_2_12_16_1
e_1_2_12_112_1
e_1_2_12_135_1
e_1_2_12_158_1
e_1_2_12_39_1
e_1_2_12_42_1
e_1_2_12_65_1
e_1_2_12_88_1
e_1_2_12_109_1
e_1_2_12_80_1
e_1_2_12_185_1
e_1_2_12_208_1
e_1_2_12_162_1
e_1_2_12_27_1
e_1_2_12_101_1
e_1_2_12_147_1
e_1_2_12_124_1
e_1_2_12_30_1
e_1_2_12_53_1
e_1_2_12_76_1
e_1_2_12_99_1
e_1_2_12_15_1
e_1_2_12_91_1
e_1_2_12_211_1
References_xml – volume: 300
  start-page: 1542
  year: 2003
  end-page: 1548
  article-title: Sensing DNA damage through ATRIP recognition of RPA–ssDNA complexes
  publication-title: Science
– volume: 41
  start-page: 169
  year: 2007
  end-page: 192
  article-title: Chromosome fragile sites
  publication-title: Annu Rev Genet
– volume: 5
  start-page: 1
  year: 2010
  end-page: 16
  article-title: Rothmund–Thomson syndrome
  publication-title: Orphanet J Rare Dis
– volume: 63
  start-page: 1385
  year: 2014
  end-page: 1389
  article-title: Identification of a novel mutation in the polymerase delta 1 (POLD1) gene in a lipodystrophic patient affected by mandibular hypoplasia, deafness, progeroid features (MDPL) syndrome
  publication-title: Metabolism
– volume: 203
  start-page: 225
  year: 2001
  end-page: 237
  article-title: Curly tail: a 50 year history of the mouse spina bifida model
  publication-title: Anat Embryol (Berl)
– volume: 9
  start-page: 481
  year: 2002
  end-page: 491
  article-title: Human origin recognition complex large subunit is degraded by ubiquitin‐mediated proteolysis after initiation of DNA replication
  publication-title: Mol Cell
– volume: 33
  start-page: 1632
  year: 2013
  end-page: 1644
  article-title: The MCM8–MCM9 complex promotes RAD51 recruitment at DNA damage sites to facilitate homologous recombination
  publication-title: Mol Cell Biol
– volume: 25
  start-page: 116
  year: 2003
  end-page: 125
  article-title: Paradoxes of eukaryotic DNA replication: MCM proteins and the random completion problem
  publication-title: BioEssays
– volume: 16
  start-page: 71
  year: 2016
  end-page: 81
  article-title: A panoply of errors: polymerase proofreading domain mutations in cancer
  publication-title: Nat Rev Cancer
– volume: 125
  start-page: 258
  year: 2015
  end-page: 262
  article-title: Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability
  publication-title: J Clin Invest
– volume: 8
  start-page: 1333
  year: 2009
  end-page: 1337
  article-title: Mouse models for ATR deficiency
  publication-title: DNA Repair
– volume: 8
  year: 2012
  article-title: Identification of the first ATRIP‐deficient patient and novel mutations in ATR define a clinical spectrum for ATR–ATRIP Seckel syndrome
  publication-title: PLoS Genet
– volume: 291
  start-page: 1049
  year: 2008
  end-page: 1061
  article-title: Role of intraflagellar transport and primary cilia in skeletal development
  publication-title: Anat Rec (Hoboken)
– volume: 4
  start-page: 2065
  year: 2013
  article-title: A spontaneous Cdt1 mutation in 129 mouse strains reveals a regulatory domain restraining replication licensing
  publication-title: Nat Commun
– volume: 16
  start-page: 583
  year: 2015
  end-page: 597
  article-title: R loops: new modulators of genome dynamics and function
  publication-title: Nat Rev Genet
– volume: 22
  start-page: 204
  year: 2012
  end-page: 210
  article-title: Replication stress and mechanisms of CNV formation
  publication-title: Curr Opin Genet Dev
– volume: 279
  start-page: 17283
  year: 2004
  end-page: 17288
  article-title: Cyclin‐dependent kinases phosphorylate human Cdt1 and induce its degradation
  publication-title: J Biol Chem
– volume: 8
  year: 2013
  article-title: Identification and characterization of SMARCAL1 protein complexes
  publication-title: PLoS One
– volume: 26
  start-page: 151
  year: 2012
  end-page: 162
  article-title: SMARCAL1 catalyzes fork regression and Holliday junction migration to maintain genome stability during DNA replication
  publication-title: Genes Dev
– volume: 36
  start-page: 405
  year: 2011
  end-page: 414
  article-title: How dormant origins promote complete genome replication
  publication-title: Trends Biochem Sci
– volume: 260
  start-page: 812
  year: 1993
  end-page: 816
  article-title: Clues to the pathogenesis of familial colorectal cancer
  publication-title: Science
– volume: 9
  start-page: 644
  year: 2009
  end-page: 654
  article-title: RecQ helicases: multifunctional genome caretakers
  publication-title: Nat Rev Cancer
– volume: 23
  start-page: 2400
  year: 2009
  end-page: 2404
  article-title: The annealing helicase HARP is recruited to DNA repair sites via an interaction with RPA
  publication-title: Genes Dev
– volume: 120
  start-page: 315
  year: 2005
  end-page: 328
  article-title: MCM8 as an MCM2‐7‐related protein that functions as a DNA helicase during replication elongation and not initiation
  publication-title: Cell
– volume: 30
  start-page: 215
  year: 2002
  end-page: 220
  article-title: Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno‐osseous dysplasia
  publication-title: Nat Genet
– volume: 6
  start-page: 8548
  year: 2015
  article-title: Replication stress caused by low MCM expression limits fetal erythropoiesis and hematopoietic stem cell functionality
  publication-title: Nat Commun
– volume: 57
  start-page: 1019
  year: 1995
  end-page: 1027
  article-title: Somatic intragenic recombination within the mutated locus BLM can correct the high sister‐chromatid exchange phenotype of Bloom syndrome cells
  publication-title: Am J Hum Genet
– volume: 67
  start-page: 327
  year: 2002
  end-page: 332
  article-title: Genetic dissection of the DiGeorge syndrome phenotype
  publication-title: Cold Spring Harb Symp Quant Biol
– volume: 122
  start-page: 814
  year: 2012
  end-page: 820
  article-title: MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans
  publication-title: J Clin Invest
– volume: 19
  start-page: 337
  year: 2007
  end-page: 343
  article-title: The many faces of the origin recognition complex
  publication-title: Curr Opin Cell Biol
– volume: 159
  start-page: 1
  year: 2000
  end-page: 7
  article-title: Manifestations and treatment of Schimke immuno‐osseous dysplasia: 14 new cases and a review of the literature
  publication-title: Eur J Pediatr
– volume: 493
  start-page: 246
  year: 2013
  end-page: 249
  article-title: Recombination‐restarted replication makes inverted chromosome fusions at inverted repeats
  publication-title: Nature
– volume: 79
  start-page: 89
  year: 2010
  end-page: 130
  article-title: Eukaryotic chromosome DNA replication: where, when, and how?
  publication-title: Annu Rev Biochem
– volume: 10
  year: 2015
  article-title: Whole exome sequencing identified as a novel causative gene for autosomal dominant nonsyndromic deafness in a Chinese family
  publication-title: PLoS One
– volume: 470
  start-page: 120
  year: 2011
  end-page: 123
  article-title: Cell‐type‐specific replication initiation programs set fragility of the FRA3B fragile site
  publication-title: Nature
– volume: 8
  start-page: 438
  year: 2007
  end-page: 450
  article-title: Cell‐cycle control and cortical development
  publication-title: Nat Rev Neurosci
– volume: 38
  start-page: 209
  year: 2001
  end-page: 214
  article-title: The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia‐hypoplasia and nail‐patella syndrome
  publication-title: J Med Genet
– volume: 319
  start-page: 1352
  year: 2008
  end-page: 1355
  article-title: An oncogene‐induced DNA damage model for cancer development
  publication-title: Science
– volume: 5
  start-page: a012732
  year: 2013
  article-title: Advances in understanding the complex mechanisms of DNA interstrand cross‐link repair
  publication-title: Cold Spring Harb Perspect Biol
– volume: 145
  start-page: 529
  year: 2011
  end-page: 542
  article-title: Double‐strand break repair‐independent role for BRCA2 in blocking stalled replication fork degradation by MRE11
  publication-title: Cell
– volume: 13
  start-page: 3127
  year: 2004
  end-page: 3138
  article-title: Seckel syndrome exhibits cellular features demonstrating defects in the ATR signalling pathway
  publication-title: Hum Mol Genet
– volume: 157
  start-page: 1037
  year: 2014
  end-page: 1049
  article-title: RECQL5 controls transcript elongation and suppresses genome instability associated with transcription stress
  publication-title: Cell
– volume: 5
  start-page: a012708
  year: 2013
  article-title: Translesion DNA synthesis and mutagenesis in eukaryotes
  publication-title: Cold Spring Harb Perspect Biol
– volume: 31
  start-page: 1177
  year: 2012
  end-page: 1189
  article-title: ATR maintains select progenitors during nervous system development
  publication-title: EMBO J
– volume: 48
  start-page: 390
  year: 2011
  end-page: 395
  article-title: C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome
  publication-title: J Med Genet
– volume: 228
  start-page: 225
  year: 2000
  end-page: 238
  article-title: DNA replication defects delay cell division and disrupt cell polarity in early Caenorhabditis elegans embryos
  publication-title: Dev Biol
– volume: 43
  start-page: 23
  year: 2011
  end-page: 26
  article-title: CEP152 is a genome maintenance protein disrupted in Seckel syndrome
  publication-title: Nat Genet
– volume: 7
  year: 2011
  publication-title: PLoS Genet
– volume: 281
  start-page: 6246
  year: 2006
  end-page: 6252
  article-title: PCNA is a co‐factor for Cdt1 degradation by CUL4/DDB1 mediated N‐terminal ubiquitination
  publication-title: J Biol Chem
– volume: 24
  start-page: 101
  year: 2010
  end-page: 122
  article-title: Pathophysiology and management of inherited bone marrow failure syndromes
  publication-title: Blood Rev
– volume: 13
  start-page: 651
  year: 2004
  end-page: 658
  article-title: Coordinated replication timing of monoallelically expressed genes along human autosomes
  publication-title: Hum Mol Genet
– volume: 11
  start-page: 39
  year: 1975
  end-page: 50
  article-title: Malformation syndromes. A selected miscellany
  publication-title: Birth Defects Orig Artic Ser
– volume: 8
  start-page: 84
  year: 2006
  end-page: 90
  article-title: PCNA functions as a molecular platform to trigger Cdt1 destruction and prevent re‐replication
  publication-title: Nat Cell Biol
– volume: 36
  start-page: 1070
  year: 2015
  end-page: 1079
  article-title: POLD1 germline mutations in patients initially diagnosed with Werner syndrome
  publication-title: Hum Mutat
– year: 2013
– volume: 286
  start-page: 11855
  year: 2011
  end-page: 11864
  article-title: MCM2–7 form double hexamers at licensed origins in xenopus egg extract
  publication-title: J Biol Chem
– volume: 4
  start-page: 702
  year: 2002
  end-page: 705
  article-title: Asynchronous replication of alleles in genomes carrying a microdeletion
  publication-title: Isr Med Assoc J
– volume: 23
  start-page: 271
  year: 2013
  end-page: 279
  article-title: Break‐induced replication: functions and molecular mechanism
  publication-title: Curr Opin Genet Dev
– volume: 10
  start-page: 1176
  year: 2015
  end-page: 1180
  article-title: A Meier–Gorlin syndrome mutation impairs the ORC1–nucleosome association
  publication-title: ACS Chem Biol
– volume: 7
  start-page: 34956
  year: 2016
  end-page: 34976
  article-title: Identification of genes that are essential to restrict genome duplication to once per cell division
  publication-title: Oncotarget
– volume: 7
  start-page: 15
  year: 1996
  end-page: 24
  article-title: Microsatellite instability and DNA mismatch repair in human cancer
  publication-title: Semin Cancer Biol
– volume: 83
  start-page: 655
  year: 1995
  end-page: 666
  article-title: The Bloom's syndrome gene product is homologous to RecQ helicases
  publication-title: Cell
– volume: 423
  start-page: 885
  year: 2003
  end-page: 889
  article-title: CUL‐4 ubiquitin ligase maintains genome stability by restraining DNA‐replication licensing
  publication-title: Nature
– volume: 9
  start-page: 616
  year: 2008
  end-page: 627
  article-title: ATR: an essential regulator of genome integrity
  publication-title: Nat Rev Mol Cell Biol
– volume: 5
  year: 2009
  article-title: A microhomology‐mediated break‐induced replication model for the origin of human copy number variation
  publication-title: PLoS Genet
– volume: 103
  start-page: 10236
  year: 2006
  end-page: 10241
  article-title: Isolation of the Cdc45/Mcm2–7/GINS(CMG) complex, a candidate for the eukaryotic DNA replication fork helicase
  publication-title: Proc Natl Acad Sci USA
– volume: 20
  start-page: 598
  year: 2012
  end-page: 606
  article-title: Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre‐replication complex gene mutations and 10 without molecular diagnosis
  publication-title: Eur J Hum Genet
– year: 2016
  article-title: Werner syndrome: clinical features, pathogenesis and potential therapeutic interventions
  publication-title: Ageing Res Rev
– volume: 484
  start-page: 115
  year: 2012
  end-page: 119
  article-title: The BAH domain of ORC1 links H4K20me2 to DNA replication licensing and Meier–Gorlin syndrome
  publication-title: Nature
– volume: 24
  start-page: R435
  year: 2014
  end-page: R444
  article-title: DNA replication and oncogene‐induced replicative stress
  publication-title: Curr Biol
– volume: 22
  start-page: 5260
  year: 2003
  end-page: 5272
  article-title: Hypomorphic mutation in an essential cell‐cycle kinase causes growth retardation and impaired spermatogenesis
  publication-title: EMBO J
– volume: 25
  start-page: 3121
  year: 2007
  end-page: 3132
  article-title: Reduced Mcm2 expression results in severe stem/progenitor cell deficiency and cancer
  publication-title: Stem Cells
– volume: 47
  start-page: 511
  year: 2012
  end-page: 522
  article-title: Mcm8 and Mcm9 form a complex that functions in homologous recombination repair induced by DNA interstrand crosslinks
  publication-title: Mol Cell
– volume: 280
  start-page: 593
  year: 1998
  end-page: 596
  article-title: Formation of a preinitiation complex by S‐phase cyclin CDK‐dependent loading of Cdc45p onto chromatin
  publication-title: Science
– volume: 18
  start-page: 521
  year: 2008
  end-page: 527
  article-title: Dividing the workload at a eukaryotic replication fork
  publication-title: Trends Cell Biol
– year: 2016
  article-title: DNA replication stress: from molecular mechanisms to human disease
  publication-title: Chromosoma
– volume: 45
  start-page: 947
  year: 2013
  end-page: 950
  article-title: An in‐frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy
  publication-title: Nat Genet
– volume: 1
  start-page: 245
  year: 2010
  end-page: 248
  article-title: SMARCAL1 and replication stress: an explanation for SIOD?
  publication-title: Nucleus
– volume: 119
  start-page: 3128
  year: 2006
  end-page: 3140
  article-title: Deregulation of Cdt1 induces chromosomal damage without rereplication and leads to chromosomal instability
  publication-title: J Cell Sci
– volume: 12
  start-page: 102
  year: 2007
  end-page: 103
  article-title: New Myc‐anisms for DNA replication and tumorigenesis?
  publication-title: Cancer Cell
– volume: 8
  year: 2012
  article-title: A dominantly acting murine allele of Mcm4 causes chromosomal abnormalities and promotes tumorigenesis
  publication-title: PLoS Genet
– volume: 122
  start-page: 241
  year: 2012
  end-page: 252
  article-title: Oncogenic stress sensitizes murine cancers to hypomorphic suppression of ATR
  publication-title: J Clin Invest
– volume: 7
  year: 2011
  article-title: CtIP mutations cause Seckel and Jawad syndromes
  publication-title: PLoS Genet
– volume: 32
  start-page: 75
  year: 2015
  end-page: 81
  article-title: CtIP: a DNA damage response protein at the intersection of DNA metabolism
  publication-title: DNA Repair
– volume: 134
  start-page: 307
  year: 2007
  end-page: 316
  article-title: Intraflagellar transport is essential for endochondral bone formation
  publication-title: Development
– volume: 87
  start-page: 418
  year: 2010
  end-page: 423
  article-title: Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome
  publication-title: Am J Hum Genet
– volume: 30
  start-page: 104
  year: 2014
  end-page: 109
  article-title: Helicase loading: how to build a MCM2–7 double‐hexamer
  publication-title: Semin Cell Dev Biol
– volume: 66
  start-page: 61
  year: 1997
  end-page: 92
  article-title: Replication protein A: a heterotrimeric, single‐stranded DNA‐binding protein required for eukaryotic DNA metabolism
  publication-title: Annu Rev Biochem
– volume: 45
  start-page: 71
  year: 2010
  end-page: 96
  article-title: Dna2 on the road to Okazaki fragment processing and genome stability in eukaryotes
  publication-title: Crit Rev Biochem Mol Biol
– volume: 41
  start-page: 237
  year: 2007
  end-page: 280
  article-title: Cell cycle regulation of DNA replication
  publication-title: Annu Rev Genet
– volume: 20
  start-page: 2857
  year: 2001
  end-page: 2866
  article-title: A role for DNA polymerase α in epigenetic control of transcriptional silencing in fission yeast
  publication-title: EMBO J
– volume: 279
  start-page: 19691
  year: 2004
  end-page: 19697
  article-title: Cdt1 phosphorylation by cyclin A‐dependent kinases negatively regulates its function without affecting geminin binding
  publication-title: J Biol Chem
– volume: 167
  start-page: 2533
  year: 2015
  end-page: 2540
  article-title: Drosophila model of Meier–Gorlin syndrome based on the mutation in a conserved C‐terminal domain of Orc6
  publication-title: Am J Med Genet A
– volume: 43
  start-page: 350
  year: 2011
  end-page: 355
  article-title: Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meie–Gorlin syndrome
  publication-title: Nat Genet
– volume: 22
  start-page: 875
  year: 2011
  end-page: 885
  article-title: The consequences of structural genomic alterations in humans: genomic disorders, genomic instability and cancer
  publication-title: Semin Cell Dev Biol
– volume: 165
  start-page: 789
  year: 2004
  end-page: 800
  article-title: Deregulation of cyclin E in human cells interferes with prereplication complex assembly
  publication-title: J Cell Biol
– volume: 21
  start-page: 3073
  year: 2007
  end-page: 3084
  article-title: RECQL5/Recql5 helicase regulates homologous recombination and suppresses tumor formation via disruption of Rad51 presynaptic filaments
  publication-title: Genes Dev
– volume: 25
  start-page: 514
  year: 2015
  end-page: 522
  article-title: Breaking bad: R‐loops and genome integrity
  publication-title: Trends Cell Biol
– volume: 75
  start-page: 1027
  year: 1993
  end-page: 1038
  article-title: The human mutator gene homolog and its association with hereditary nonpolyposis colon cancer
  publication-title: Cell
– volume: 2
  start-page: 154
  year: 2011
  article-title: Neural stem and progenitor cells shorten S‐phase on commitment to neuron production
  publication-title: Nat Commun
– volume: 2
  start-page: 1088
  year: 1971
  end-page: 1089
  article-title: Chondroitin‐6‐sulphaturia, defective cellular immunity, and nephrotic syndrome
  publication-title: Lancet
– volume: 25
  start-page: 1574
  year: 2016
  end-page: 1587
  article-title: ATR promotes cilia signalling: links to developmental impacts
  publication-title: Hum Mol Genet
– volume: 99
  start-page: 125
  year: 2016
  end-page: 138
  article-title: Mutations in CDC45, encoding an essential component of the pre‐initiation complex, cause Meier–Gorlin syndrome and craniosynostosis
  publication-title: Am J Hum Genet
– volume: 102
  start-page: 115
  year: 2001
  end-page: 124
  article-title: Meier–Gorlin syndrome: report of eight additional cases and review
  publication-title: Am J Med Genet
– start-page: 161
  year: 2013
  end-page: 184
– volume: 139
  start-page: 719
  year: 2009
  end-page: 730
  article-title: Concerted loading of Mcm2–7 double hexamers around DNA during DNA replication origin licensing
  publication-title: Cell
– volume: 121
  start-page: 887
  year: 2005
  end-page: 898
  article-title: Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund–Thomson syndrome
  publication-title: Cell
– volume: 305
  start-page: 202
  year: 2007
  end-page: 216
  article-title: Development of the post‐natal growth plate requires intraflagellar transport proteins
  publication-title: Dev Biol
– volume: 39
  start-page: 93
  year: 2007
  end-page: 98
  article-title: A viable allele of Mcm4 causes chromosome instability and mammary adenocarcinomas in mice
  publication-title: Nat Genet
– volume: 25
  start-page: 5372
  year: 2006
  end-page: 5382
  article-title: The BAH domain facilitates the ability of human Orc1 protein to activate replication origins in vivo
  publication-title: EMBO J
– volume: 23
  start-page: 2359
  year: 2009
  end-page: 2365
  article-title: HARPing on about the DNA damage response during replication
  publication-title: Genes Dev
– volume: 5
  start-page: 368
  year: 2011
  end-page: 373
  article-title: Targeting ATR and Chk1 kinases for cancer treatment: a new model for new (and old) drugs
  publication-title: Mol Oncol
– volume: 9
  start-page: 753
  year: 2001
  end-page: 757
  article-title: A new locus for Seckel syndrome on chromosome 18p11.31–q11.2
  publication-title: Eur J Hum Genet
– volume: 124
  start-page: 3137
  year: 2014
  end-page: 3146
  article-title: Hypomorphic PCNA mutation underlies a human DNA repair disorder
  publication-title: J Clin Invest
– volume: 22
  start-page: 2820
  year: 2013
  end-page: 2828
  article-title: DNA polymerase ϵ and δ exonuclease domain mutations in endometrial cancer
  publication-title: Hum Mol Genet
– volume: 23
  start-page: 2405
  year: 2009
  end-page: 2414
  article-title: The annealing helicase SMARCAL1 maintains genome integrity at stalled replication forks
  publication-title: Genes Dev
– start-page: 1
  year: 2013
  end-page: 37
– volume: 11
  start-page: 220
  year: 2010
  end-page: 228
  article-title: Genomic instability – an evolving hallmark of cancer
  publication-title: Nat Rev Mol Cell Biol
– volume: 2
  year: 2013
  article-title: A Meier–Gorlin syndrome mutation in a conserved C‐terminal helix of Orc6 impedes origin recognition complex formation
  publication-title: eLife
– volume: 122
  start-page: 821
  year: 2012
  end-page: 832
  article-title: Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency
  publication-title: J Clin Invest
– volume: 129
  start-page: 665
  year: 2007
  end-page: 679
  article-title: PCNA, the maestro of the replication fork
  publication-title: Cell
– volume: 47
  start-page: 523
  year: 2012
  end-page: 534
  article-title: MCM8‐ and MCM9‐deficient mice reveal gametogenesis defects and genome instability due to impaired homologous recombination
  publication-title: Mol Cell
– volume: 75
  start-page: 1215
  year: 1993
  end-page: 1225
  article-title: Mutations of a homolog in hereditary nonpolyposis colorectal cancer
  publication-title: Cell
– volume: 72
  start-page: 393
  year: 1993
  end-page: 406
  article-title: Bloom syndrome: a Mendelian prototype of somatic mutational disease
  publication-title: Medicine
– volume: 45
  start-page: 233
  year: 2010
  end-page: 242
  article-title: RecQ4: the second replicative helicase?
  publication-title: Crit Rev Biochem Mol Biol
– volume: 22
  start-page: 106
  year: 2012
  end-page: 116
  article-title: A distinct replication fork protection pathway connects Fanconi anemia tumor suppressors to RAD51‐BRCA1/2
  publication-title: Cancer Cell
– volume: 56
  start-page: 777
  year: 2014
  end-page: 785
  article-title: Transcription‐coupled nucleotide excision repair factors promote r‐loop‐induced genome instability
  publication-title: Mol Cell
– volume: 27
  start-page: 313
  year: 2013
  end-page: 321
  article-title: Lagging strand maturation factor Dna2 is a component of the replication checkpoint initiation machinery
  publication-title: Genes Dev
– volume: 25
  start-page: 1560
  year: 2005
  end-page: 1568
  article-title: Involvement of human MCM8 in prereplication complex assembly by recruiting hcdc6 to chromatin
  publication-title: Mol Cell Biol
– volume: 39
  start-page: S43
  year: 2007
  end-page: S47
  article-title: Genomic rearrangements and sporadic disease
  publication-title: Nat Genet
– volume: 81
  start-page: 77
  year: 2007
  end-page: 86
  article-title: Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling
  publication-title: Am J Hum Genet
– volume: 461
  start-page: 1071
  year: 2009
  end-page: 1078
  article-title: The DNA‐damage response in human biology and disease
  publication-title: Nature
– volume: 43
  start-page: 360
  year: 2011
  end-page: 364
  article-title: Mutations in origin recognition complex gene ORC4 cause Meier–Gorlin syndrome
  publication-title: Nat Genet
– volume: 1
  start-page: 1
  year: 2006
  end-page: 9
  article-title: Cdt1 revisited: complex and tight regulation during the cell cycle and consequences of deregulation in mammalian cells
  publication-title: Cell Division
– volume: 34
  start-page: 374
  year: 2012
  end-page: 384
  article-title: Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations
  publication-title: Hum Mutat
– volume: 59
  start-page: 998
  year: 2015
  end-page: 1010
  article-title: The replication checkpoint prevents two types of fork collapse without regulating replisome stability
  publication-title: Mol Cell
– volume: 8
  start-page: 799
  year: 2008
  end-page: 806
  article-title: Replication licensing and cancer – a fatal entanglement?
  publication-title: Nat Rev Cancer
– volume: 288
  start-page: 31458
  year: 2013
  end-page: 31467
  article-title: Identification of proteins at active, stalled, and collapsed replication forks using isolation of proteins on nascent DNA (iPOND) coupled with mass spectrometry
  publication-title: J Biol Chem
– volume: 10
  start-page: 551
  year: 2009
  end-page: 564
  article-title: Mechanisms of change in gene copy number
  publication-title: Nat Rev Genet
– volume: 284
  start-page: 35951
  year: 2009
  end-page: 35961
  article-title: Identification of SMARCAL1 as a component of the DNA damage response
  publication-title: J Biol Chem
– volume: 14
  start-page: 377
  year: 2002
  end-page: 383
  article-title: Replication timing and transcriptional control: beyond cause and effect
  publication-title: Curr Opin Cell Biol
– volume: 47
  start-page: 222
  year: 2012
  end-page: 235
  article-title: Mechanisms of replication fork protection: a safeguard for genome stability
  publication-title: Crit Rev Biochem Mol Biol
– volume: 10
  start-page: 406
  year: 2009
  end-page: 412
  article-title: A model for DNA replication showing how dormant origins safeguard against replication fork failure
  publication-title: EMBO Rep
– volume: 119
  start-page: 64
  year: 1991
  end-page: 72
  article-title: Schimke immuno‐osseous dysplasia: a newly recognized multisystem disease
  publication-title: J Pediatr
– volume: 36
  start-page: 915
  year: 2015
  end-page: 921
  article-title: The Matchmaker Exchange: a platform for rare disease gene discovery
  publication-title: Hum Mutat
– volume: 43
  start-page: 356
  year: 2011
  end-page: 359
  article-title: Mutations in the pre‐replication complex cause Meier–Gorlin syndrome
  publication-title: Nat Genet
– volume: 166
  start-page: 124
  year: 2014
  end-page: 139
  article-title: Congenital microcephaly
  publication-title: Am J Med Genet C Semin Med Genet
– volume: 48
  start-page: 648
  year: 2016
  end-page: 656
  article-title: The ciliopathy‐associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery
  publication-title: Nat Genet
– volume: 339
  start-page: 1508
  year: 1992
  end-page: 1509
  article-title: Growth retardation and immunodeficiency in a patient with mutations in the DNA ligase I gene
  publication-title: Lancet
– volume: 401
  start-page: 297
  year: 1999
  end-page: 300
  article-title: Deregulated cyclin E induces chromosome instability
  publication-title: Nature
– volume: 53
  start-page: 5853
  year: 1993
  end-page: 5855
  article-title: Microsatellite instability is associated with tumors that characterize the hereditary non‐polyposis colorectal carcinoma syndrome
  publication-title: Cancer Res
– volume: 15
  start-page: 276
  year: 2015
  end-page: 289
  article-title: Replication stress and cancer
  publication-title: Nat Rev Cancer
– volume: 52
  start-page: 391
  year: 2015
  end-page: 399
  article-title: Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure
  publication-title: J Med Genet
– volume: 39
  start-page: 346
  year: 2010
  end-page: 359
  article-title: Homologous recombination restarts blocked replication forks at the expense of genome rearrangements by template exchange
  publication-title: Mol Cell
– volume: 64
  start-page: 1530
  year: 2015
  end-page: 1540
  article-title: Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies
  publication-title: Metabolism
– volume: 230
  start-page: 148
  year: 2013
  end-page: 153
  article-title: Germline and somatic polymerase ϵ and δ mutations define a new class of hypermutated colorectal and endometrial cancers
  publication-title: J Pathol
– volume: 260
  start-page: 810
  year: 1993
  end-page: 812
  article-title: Genetic mapping of a locus predisposing to human colorectal cancer
  publication-title: Science
– volume: 95
  start-page: E192
  year: 2010
  end-page: E197
  article-title: A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism
  publication-title: J Clin Endocrinol Metabol
– volume: 9
  start-page: 1249
  year: 2010
  end-page: 1255
  article-title: The ATR barrier to replication‐born DNA damage
  publication-title: DNA Repair
– volume: 9
  year: 2013
  article-title: Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier–Gorlin syndrome
  publication-title: PLoS Genet
– volume: 61
  start-page: 437
  year: 2010
  end-page: 455
  article-title: Structural variation in the human genome and its role in disease
  publication-title: Annu Rev Med
– volume: 6
  start-page: 7744
  year: 2015
  article-title: MCM8–9 complex promotes resection of double‐strand break ends by MRE11–RAD50–NBS1 complex
  publication-title: Nat Commun
– volume: 85
  start-page: 291
  year: 2016
  end-page: 317
  article-title: Transcription as a threat to genome integrity
  publication-title: Annu Rev Biochem
– volume: 21
  start-page: 497
  year: 2007
  end-page: 518
  article-title: Strength in numbers: preventing rereplication via multiple mechanisms in eukaryotic cells
  publication-title: Genes Dev
– volume: 7
  start-page: 223
  year: 1999
  end-page: 230
  article-title: Asynchronous replication of alleles in genomes carrying an extra autosome
  publication-title: Eur J Hum Genet
– volume: 149
  start-page: 1181
  year: 2012
  end-page: 1183
  article-title: Dna2 offers support for stalled forks
  publication-title: Cell
– volume: 145
  start-page: 435
  year: 2011
  end-page: 446
  article-title: Nucleotide deficiency promotes genomic instability in early stages of cancer development
  publication-title: Cell
– volume: 50
  start-page: 28
  year: 2012
  end-page: 41
  article-title: Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial base
  publication-title: Bone
– volume: 20
  start-page: 412
  year: 2013
  end-page: 418
  article-title: Transcription‐replication encounters, consequences and genomic instability
  publication-title: Nat Struct Mol Biol
– volume: 12
  start-page: 637
  year: 2013
  end-page: 644
  article-title: Meier–Gorlin syndrome and Wolf–Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis
  publication-title: DNA Repair
– volume: 24
  start-page: 423
  year: 2012
  end-page: 430
  article-title: Activation of the replicative DNA helicase: breaking up is hard to do
  publication-title: Curr Opin Cell Biol
– volume: 12
  start-page: 7
  year: 1982
  end-page: 21
  article-title: Studies of microcephalic primordial dwarfism I: Approach to a delineation of the Seckel syndrome
  publication-title: Am J Med Genet
– volume: 208
  start-page: 621
  year: 2015
  end-page: 624
  article-title: Mutated MCM9 is associated with predisposition to hereditary mixed polyposis and colorectal cancer in addition to primary ovarian failure
  publication-title: Cancer Genet
– volume: 26
  start-page: 4843
  year: 2006
  end-page: 4852
  article-title: The N‐terminal noncatalytic region of Xenopus RecQ4 is required for chromatin binding of DNA polymerase α in the initiation of DNA replication
  publication-title: Mol Cell Biol
– volume: 21
  start-page: 2168
  year: 2002
  end-page: 2179
  article-title: Inactivation of Cdc7 kinase in mouse ES cells results in S‐phase arrest and p53‐dependent cell death
  publication-title: EMBO J
– volume: 155
  start-page: 1088
  year: 2013
  end-page: 1103
  article-title: ATR prohibits replication catastrophe by preventing global exhaustion of RPA
  publication-title: Cell
– volume: 95
  start-page: 754
  year: 2014
  end-page: 762
  article-title: MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability
  publication-title: Am J Hum Genet
– volume: 27
  start-page: 1610
  year: 2013
  end-page: 1623
  article-title: ATR phosphorylates SMARCAL1 to prevent replication fork collapse
  publication-title: Genes Dev
– volume: 158A
  start-page: 2733
  year: 2012
  end-page: 2742
  article-title: Meier–Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder
  publication-title: Am J Med Genet A
– volume: 106
  start-page: 20240
  year: 2009
  end-page: 20245
  article-title: A double‐hexameric MCM2–7 complex is loaded onto origin DNA during licensing of eukaryotic DNA replication
  publication-title: Proc Natl Acad Sci USA
– volume: 26
  start-page: 1393
  year: 2012
  end-page: 1408
  article-title: Regulation of DNA cross‐link repair by the Fanconi anemia/BRCA pathway
  publication-title: Genes Dev
– volume: 5
  start-page: a012583
  year: 2013
  article-title: Base excision repair
  publication-title: Cold Spring Harb Perspect Biol
– volume: 18
  start-page: 777
  year: 2016
  end-page: 789
  article-title: Chronic p53‐independent p21 expression causes genomic instability by deregulating replication licensing
  publication-title: Nat Cell Biol
– volume: 49
  start-page: 242
  year: 2012
  end-page: 245
  article-title: Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair
  publication-title: J Med Genet
– volume: 260
  start-page: 816
  year: 1993
  end-page: 819
  article-title: Microsatellite instability in cancer of the proximal colon
  publication-title: Science
– volume: 5
  start-page: a019836
  year: 2013
  article-title: Replicating damaged DNA in eukaryotes
  publication-title: Cold Spring Harb Perspect Biol
– volume: 85
  start-page: 303
  year: 2008
  end-page: 332
  article-title: Cilia involvement in patterning and maintenance of the skeleton
  publication-title: Curr Top Dev Biol
– volume: 32
  start-page: 3744
  year: 2013
  end-page: 3753
  article-title: Increased replication initiation and conflicts with transcription underlie cyclin E‐induced replication stress
  publication-title: Oncogene
– volume: 5
  year: 2013
  article-title: Replicative DNA polymerases
  publication-title: Cold Spring Harb Perspect Biol
– volume: 29
  start-page: 4274
  year: 2009
  end-page: 4282
  article-title: Human Dna2 is a nuclear and mitochondrial DNA maintenance protein
  publication-title: Mol Cell Biol
– volume: 33
  start-page: 497
  year: 2003
  end-page: 501
  article-title: A splicing mutation affecting expression of ataxia‐telangiectasia and Rad3‐related protein (ATR) results in Seckel syndrome
  publication-title: Nat Genet
– volume: 7
  start-page: 10660
  year: 2016
  article-title: A short G1 phase imposes constitutive replication stress and fork remodelling in mouse embryonic stem cells
  publication-title: Nat Commun
– volume: 34
  start-page: 75
  year: 2015
  end-page: 83
  article-title: DNA repair defects and genome instability in Hutchinson–Gilford progeria syndrome
  publication-title: Curr Opin Cell Biol
– volume: 23
  start-page: 2415
  year: 2009
  end-page: 2425
  article-title: The SIOD disorder protein SMARCAL1 is an RPA‐interacting protein involved in replication fork restart
  publication-title: Genes Dev
– volume: 61
  start-page: 535
  year: 2016
  end-page: 546
  article-title: Non‐catalytic roles for XPG with BRCA1 and BRCA2 in homologous recombination and genome stability
  publication-title: Mol Cell
– year: 1960
– volume: 23
  start-page: 2394
  year: 2009
  end-page: 2399
  article-title: The annealing helicase HARP protects stalled replication forks
  publication-title: Genes Dev
– volume: 92
  start-page: 293
  year: 2013
  end-page: 300
  article-title: Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability
  publication-title: Am J Hum Genet
– volume: 297
  start-page: 606
  year: 2002
  end-page: 609
  article-title: Biallelic inactivation of BRCA2 in Fanconi anemia
  publication-title: Science
– volume: 4
  start-page: 1
  year: 2013
  end-page: 10
  article-title: Genome maintenance and transcription integrity in aging and disease
  publication-title: Front Genet
– volume: 97
  start-page: 904
  year: 2015
  end-page: 913
  article-title: De novo GMNN mutations cause autosomal‐dominant primordial dwarfism associated with Meier–Gorlin syndrome
  publication-title: Am J Hum Genet
– volume: 21
  start-page: 2181
  year: 2012
  end-page: 2193
  article-title: Characterizing the functional consequences of haploinsufficiency of NELF‐A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf–Hirschhorn syndrome
  publication-title: Hum Mol Genet
– start-page: 123
  year: 2015
  end-page: 131
– volume: 69
  start-page: 495
  year: 1992
  end-page: 503
  article-title: Mutations in the DNA ligase 1 gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA damaging agents
  publication-title: Cell
– volume: 43
  start-page: 122
  year: 2011
  end-page: 131
  article-title: Failure of origin activation in response to fork stalling leads to chromosomal instability at fragile sites
  publication-title: Mol Cell
– volume: 24
  start-page: 291
  year: 2014
  end-page: 299
  article-title: Genomic analysis of primordial dwarfism reveals novel disease genes
  publication-title: Genome Res
– volume: 214
  start-page: 401
  year: 2016
  end-page: 415
  article-title: RECQ5 helicase promotes resolution of conflicts between replication and transcription in human cells
  publication-title: J Cell Biol
– volume: 29
  start-page: 3630
  year: 2010
  end-page: 3638
  article-title: DNA damage response and tumorigenesis in Mcm2‐deficient mice
  publication-title: Oncogene
– volume: 45
  start-page: 136
  year: 2013
  end-page: 144
  article-title: Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
  publication-title: Nat Genet
– volume: 27
  start-page: 1093
  year: 2009
  end-page: 1099
  article-title: Cartilage abnormalities associated with defects of chondrocytic primary cilia in Bardet–Biedl syndrome mutant mice
  publication-title: J Orthop Res
– volume: 41
  start-page: 891
  year: 2009
  end-page: 898
  article-title: A mouse model of ATR‐Seckel shows embryonic replicative stress and accelerated aging
  publication-title: Nat Genet
– volume: 329
  start-page: 26
  year: 2014
  end-page: 34
  article-title: Replication stress and cancer: it takes two to tango
  publication-title: Exp Cell Res
– volume: 47
  start-page: 411
  year: 2010
  end-page: 414
  article-title: Novel CENPJ mutation causes Seckel syndrome
  publication-title: J Med Genet
– volume: 68
  start-page: 302
  year: 2005
  end-page: 319
  article-title: Human syndromes with congenital patellar anomalies and the underlying gene defects
  publication-title: Clin Genet
– volume: 149
  start-page: 1221
  year: 2012
  end-page: 1232
  article-title: The intra‐S phase checkpoint targets Dna2 to prevent stalled replication forks from reversing
  publication-title: Cell
– volume: 13
  start-page: 1049
  year: 2014
  end-page: 1050
  article-title: Fork reversal, too much of a good thing
  publication-title: Cell Cycle
– volume: 17
  start-page: 151
  year: 2008
  end-page: 158
  article-title: The mutation spectrum in RECQL4 diseases
  publication-title: Eur J Hum Genet
– volume: 114
  start-page: 389
  year: 2005
  end-page: 402
  article-title: Replication of heterochromatin: insights into mechanisms of epigenetic inheritance
  publication-title: Chromosoma
– volume: 83
  start-page: 519
  year: 2014
  end-page: 552
  article-title: Human RecQ helicases in DNA repair, recombination, and replication
  publication-title: Annu Rev Biochem
– volume: 1
  start-page: 113
  year: 2007
  end-page: 126
  article-title: Deletion of the developmentally essential gene ATR in adult mice leads to age‐related phenotypes and stem cell loss
  publication-title: Cell Stem Cell
– volume: 590
  start-page: 128
  year: 2016
  end-page: 141
  article-title: POLD1: central mediator of DNA replication and repair, and implication in cancer and other pathologies
  publication-title: Gene
– ident: e_1_2_12_69_1
  doi: 10.1002/ajmg.1320120103
– ident: e_1_2_12_159_1
  doi: 10.1101/cshperspect.a019836
– ident: e_1_2_12_209_1
  doi: 10.1007/s00412-005-0024-6
– ident: e_1_2_12_62_1
  doi: 10.1038/ncomms1155
– ident: e_1_2_12_42_1
  doi: 10.1371/journal.pgen.1003034
– ident: e_1_2_12_148_1
  doi: 10.1016/j.blre.2010.03.002
– ident: e_1_2_12_70_1
  doi: 10.1038/ng1129
– ident: e_1_2_12_112_1
  doi: 10.1038/ncomms8744
– ident: e_1_2_12_84_1
  doi: 10.1101/gad.214080.113
– ident: e_1_2_12_35_1
  doi: 10.1083/jcb.200404092
– ident: e_1_2_12_142_1
  doi: 10.1146/annurev-biochem-060713-035428
– ident: e_1_2_12_54_1
  doi: 10.1038/nrg3961
– ident: e_1_2_12_46_1
  doi: 10.1016/j.cell.2011.03.044
– ident: e_1_2_12_99_1
  doi: 10.1021/cb5009684
– ident: e_1_2_12_211_1
  doi: 10.1093/hmg/ddw034
– ident: e_1_2_12_154_1
  doi: 10.1016/j.cell.2005.05.015
– ident: e_1_2_12_66_1
  doi: 10.1002/ajmg.c.31397
– ident: e_1_2_12_172_1
  doi: 10.1101/gad.1839909
– ident: e_1_2_12_150_1
  doi: 10.1016/0140-6736(92)91266-B
– ident: e_1_2_12_152_1
  doi: 10.1038/ejhg.2008.154
– ident: e_1_2_12_2_1
  doi: 10.1146/annurev-biochem-060815-014908
– ident: e_1_2_12_143_1
  doi: 10.1007/978-1-4614-5037-5_8
– ident: e_1_2_12_6_1
  doi: 10.1016/j.cub.2014.04.012
– ident: e_1_2_12_10_1
  doi: 10.1016/j.semcdb.2014.03.008
– ident: e_1_2_12_208_1
  doi: 10.1016/j.ceb.2007.04.007
– ident: e_1_2_12_93_1
  doi: 10.1038/ng.777
– ident: e_1_2_12_171_1
  doi: 10.1038/ng821
– ident: e_1_2_12_5_1
  doi: 10.3109/10409238.2012.655374
– ident: e_1_2_12_205_1
  doi: 10.1093/hmg/dds033
– ident: e_1_2_12_24_1
  doi: 10.1074/jbc.M512705200
– ident: e_1_2_12_194_1
  doi: 10.1371/journal.pgen.1000327
– ident: e_1_2_12_96_1
  doi: 10.1002/ajmg.a.37214
– ident: e_1_2_12_25_1
  doi: 10.1038/nature01747
– ident: e_1_2_12_47_1
  doi: 10.1146/annurev.biochem.66.1.61
– ident: e_1_2_12_156_1
  doi: 10.3109/10409231003786086
– ident: e_1_2_12_30_1
  doi: 10.1016/j.dnarep.2010.09.012
– ident: e_1_2_12_51_1
  doi: 10.18632/oncotarget.9008
– ident: e_1_2_12_74_1
  doi: 10.1101/gr.160572.113
– volume: 11
  start-page: 39
  year: 1975
  ident: e_1_2_12_85_1
  article-title: Malformation syndromes. A selected miscellany
  publication-title: Birth Defects Orig Artic Ser
  contributor:
    fullname: Gorlin R
– ident: e_1_2_12_102_1
  doi: 10.1126/science.280.5363.593
– ident: e_1_2_12_127_1
  doi: 10.1126/science.8484122
– ident: e_1_2_12_109_1
  doi: 10.1136/jmedgenet-2012-100803
– ident: e_1_2_12_31_1
  doi: 10.1038/nrm2858
– ident: e_1_2_12_53_1
  doi: 10.1038/nsmb.2543
– ident: e_1_2_12_169_1
  doi: 10.1016/S0022-3476(05)81040-6
– ident: e_1_2_12_121_1
  doi: 10.1172/JCI74593
– ident: e_1_2_12_104_1
  doi: 10.1016/j.ajhg.2015.11.006
– ident: e_1_2_12_177_1
  doi: 10.1101/gad.1860609
– ident: e_1_2_12_72_1
  doi: 10.1136/jmg.2009.076646
– ident: e_1_2_12_111_1
  doi: 10.1016/j.cell.2004.12.010
– ident: e_1_2_12_217_1
  doi: 10.1016/j.ydbio.2007.02.003
– ident: e_1_2_12_95_1
  doi: 10.1016/j.dnarep.2013.04.016
– ident: e_1_2_12_145_1
  doi: 10.1016/0092-8674(95)90105-1
– ident: e_1_2_12_174_1
  doi: 10.1074/jbc.M109.048330
– ident: e_1_2_12_202_1
  doi: 10.1101/sqb.2002.67.327
– ident: e_1_2_12_15_1
  doi: 10.1002/bies.10208
– ident: e_1_2_12_197_1
  doi: 10.1038/nature11676
– ident: e_1_2_12_153_1
  doi: 10.1186/1750-1172-5-2
– ident: e_1_2_12_29_1
  doi: 10.1038/nrm2450
– ident: e_1_2_12_213_1
  doi: 10.1016/j.ajhg.2010.08.004
– ident: e_1_2_12_34_1
  doi: 10.1038/45836
– ident: e_1_2_12_151_1
  doi: 10.1016/0092-8674(92)90450-Q
– ident: e_1_2_12_157_1
  doi: 10.1101/gad.1609107
– ident: e_1_2_12_207_1
  doi: 10.1016/S0955-0674(02)00326-5
– ident: e_1_2_12_36_1
  doi: 10.1146/annurev.genet.41.042007.165900
– ident: e_1_2_12_126_1
  doi: 10.1006/scbi.1996.0003
– ident: e_1_2_12_45_1
  doi: 10.1016/j.ccr.2007.07.013
– ident: e_1_2_12_215_1
  doi: 10.1002/ar.20634
– ident: e_1_2_12_63_1
  doi: 10.1038/nrn2097
– ident: e_1_2_12_140_1
  doi: 10.1016/j.gene.2016.06.031
– ident: e_1_2_12_105_1
  doi: 10.1038/ncomms9548
– start-page: 1
  volume-title: GeneReviews
  year: 2013
  ident: e_1_2_12_67_1
  contributor:
    fullname: Verloes A
– ident: e_1_2_12_71_1
  doi: 10.1371/journal.pgen.1002945
– ident: e_1_2_12_75_1
  doi: 10.1371/journal.pgen.1002310
– ident: e_1_2_12_135_1
  doi: 10.1038/ng.2670
– ident: e_1_2_12_50_1
  doi: 10.1038/ncb3378
– ident: e_1_2_12_178_1
  doi: 10.1371/journal.pone.0063149
– ident: e_1_2_12_182_1
  doi: 10.1101/cshperspect.a012583
– ident: e_1_2_12_21_1
  doi: 10.1074/jbc.C300549200
– ident: e_1_2_12_149_1
  doi: 10.1101/cshperspect.a012732
– ident: e_1_2_12_147_1
  doi: 10.1016/j.arr.2016.03.002
– ident: e_1_2_12_65_1
  doi: 10.1038/ncomms10660
– ident: e_1_2_12_125_1
  doi: 10.1016/0092-8674(93)90330-S
– ident: e_1_2_12_20_1
  doi: 10.1074/jbc.M313175200
– ident: e_1_2_12_4_1
  doi: 10.1007/s00412‐016‐0573‐x
– ident: e_1_2_12_186_1
  doi: 10.1016/j.cell.2012.04.030
– volume: 10
  year: 2015
  ident: e_1_2_12_106_1
  article-title: Whole exome sequencing identified MCM2 as a novel causative gene for autosomal dominant nonsyndromic deafness in a Chinese family
  publication-title: PLoS One
  contributor:
    fullname: Gao J
– ident: e_1_2_12_134_1
  doi: 10.1002/path.4185
– ident: e_1_2_12_176_1
  doi: 10.1101/gad.1836409
– ident: e_1_2_12_165_1
  doi: 10.1016/j.molcel.2015.12.026
– ident: e_1_2_12_181_1
  doi: 10.4161/cc.28212
– ident: e_1_2_12_58_1
  doi: 10.1016/j.molcel.2014.10.020
– ident: e_1_2_12_124_1
  doi: 10.1016/0092-8674(93)90546-3
– volume: 57
  start-page: 1019
  year: 1995
  ident: e_1_2_12_146_1
  article-title: Somatic intragenic recombination within the mutated locus BLM can correct the high sister‐chromatid exchange phenotype of Bloom syndrome cells
  publication-title: Am J Hum Genet
  contributor:
    fullname: Ellis NA
– ident: e_1_2_12_220_1
  doi: 10.1038/ng.3558
– ident: e_1_2_12_7_1
  doi: 10.1016/j.yexcr.2014.09.019
– ident: e_1_2_12_190_1
  doi: 10.1038/sj.ejhg.5200701
– ident: e_1_2_12_77_1
  doi: 10.1016/j.dnarep.2009.09.001
– ident: e_1_2_12_57_1
  doi: 10.1083/jcb.201507099
– ident: e_1_2_12_76_1
  doi: 10.1038/ng.420
– ident: e_1_2_12_100_1
  doi: 10.7554/eLife.00882
– ident: e_1_2_12_94_1
  doi: 10.1371/journal.pgen.1003360
– ident: e_1_2_12_38_1
  doi: 10.1038/nature09745
– volume-title: Bird‐headed Dwarfs: Studies in Developmental Anthropology Including Human Proportions
  year: 1960
  ident: e_1_2_12_68_1
  contributor:
    fullname: Seckel HPG
– ident: e_1_2_12_55_1
  doi: 10.1016/j.tcb.2015.05.003
– ident: e_1_2_12_139_1
  doi: 10.1002/humu.22833
– ident: e_1_2_12_119_1
  doi: 10.1016/j.cancergen.2015.10.001
– ident: e_1_2_12_131_1
  doi: 10.1038/nrc.2015.12
– ident: e_1_2_12_33_1
  doi: 10.1016/j.molonc.2011.07.002
– ident: e_1_2_12_144_1
  doi: 10.1097/00005792-199311000-00003
– ident: e_1_2_12_8_1
  doi: 10.1073/pnas.0911500106
– ident: e_1_2_12_87_1
  doi: 10.1002/ajmg.1452
– ident: e_1_2_12_26_1
  doi: 10.1186/1747-1028-1-22
– ident: e_1_2_12_103_1
  doi: 10.1073/pnas.0602400103
– ident: e_1_2_12_163_1
  doi: 10.1016/j.cell.2011.03.041
– ident: e_1_2_12_80_1
  doi: 10.1172/JCI58928
– ident: e_1_2_12_138_1
  doi: 10.1016/j.metabol.2014.07.010
– ident: e_1_2_12_73_1
  doi: 10.1038/ng.725
– ident: e_1_2_12_118_1
  doi: 10.1136/jmedgenet-2014-102921
– ident: e_1_2_12_189_1
  doi: 10.1016/j.dnarep.2015.04.016
– ident: e_1_2_12_183_1
  doi: 10.3109/10409230903578593
– ident: e_1_2_12_22_1
  doi: 10.1242/jcs.03031
– ident: e_1_2_12_158_1
  doi: 10.1101/cshperspect.a012708
– ident: e_1_2_12_114_1
  doi: 10.1016/j.molcel.2012.05.047
– ident: e_1_2_12_17_1
  doi: 10.1016/j.tibs.2011.05.002
– ident: e_1_2_12_113_1
  doi: 10.1128/MCB.01503-12
– ident: e_1_2_12_137_1
  doi: 10.1016/j.metabol.2015.07.022
– ident: e_1_2_12_168_1
  doi: 10.1007/s004310050001
– ident: e_1_2_12_184_1
  doi: 10.1101/gad.204750.112
– ident: e_1_2_12_37_1
  doi: 10.1016/j.molcel.2011.05.019
– ident: e_1_2_12_198_1
  doi: 10.1016/j.molcel.2010.07.015
– ident: e_1_2_12_23_1
  doi: 10.1038/ncb1346
– ident: e_1_2_12_88_1
  doi: 10.1136/jmg.38.3.209
– ident: e_1_2_12_222_1
  doi: 10.1002/humu.22858
– ident: e_1_2_12_11_1
  doi: 10.1074/jbc.M110.199521
– ident: e_1_2_12_155_1
  doi: 10.1128/MCB.02267-05
– volume: 4
  start-page: 702
  year: 2002
  ident: e_1_2_12_200_1
  article-title: Asynchronous replication of alleles in genomes carrying a microdeletion
  publication-title: Isr Med Assoc J
  contributor:
    fullname: Amiel A
– ident: e_1_2_12_40_1
  doi: 10.1634/stemcells.2007-0483
– ident: e_1_2_12_32_1
  doi: 10.1126/science.1140735
– ident: e_1_2_12_44_1
  doi: 10.1016/j.gde.2013.05.007
– ident: e_1_2_12_90_1
  doi: 10.1002/ajmg.a.35681
– ident: e_1_2_12_19_1
  doi: 10.1016/S1097-2765(02)00467-7
– ident: e_1_2_12_214_1
  doi: 10.1016/S0070-2153(08)00811-9
– ident: e_1_2_12_49_1
  doi: 10.1038/nrc2500
– ident: e_1_2_12_59_1
  doi: 10.1093/emboj/cdg497
– ident: e_1_2_12_210_1
  doi: 10.1093/emboj/20.11.2857
– ident: e_1_2_12_192_1
  doi: 10.1038/ng2084
– ident: e_1_2_12_175_1
  doi: 10.1101/gad.1831509
– ident: e_1_2_12_43_1
  doi: 10.1016/j.gde.2012.01.009
– ident: e_1_2_12_187_1
  doi: 10.1128/MCB.01834-08
– ident: e_1_2_12_136_1
  doi: 10.1210/jc.2010-0419
– ident: e_1_2_12_86_1
  doi: 10.1111/j.1399-0004.2005.00508.x
– ident: e_1_2_12_89_1
  doi: 10.1038/ejhg.2011.269
– ident: e_1_2_12_191_1
  doi: 10.1093/hmg/ddh335
– ident: e_1_2_12_92_1
  doi: 10.1038/ng.776
– ident: e_1_2_12_48_1
  doi: 10.1016/j.cell.2013.10.043
– ident: e_1_2_12_164_1
  doi: 10.1016/j.ccr.2012.05.015
– ident: e_1_2_12_12_1
  doi: 10.1016/j.ceb.2012.01.011
– ident: e_1_2_12_120_1
  doi: 10.1016/j.cell.2007.05.003
– ident: e_1_2_12_219_1
  doi: 10.1016/j.bone.2011.08.025
– ident: e_1_2_12_39_1
  doi: 10.1038/onc.2010.125
– ident: e_1_2_12_82_1
  doi: 10.1016/j.ceb.2015.05.007
– ident: e_1_2_12_78_1
  doi: 10.1038/emboj.2011.493
– ident: e_1_2_12_133_1
  doi: 10.1093/hmg/ddt131
– ident: e_1_2_12_193_1
  doi: 10.1146/annurev-med-100708-204735
– ident: e_1_2_12_52_1
  doi: 10.1038/onc.2012.387
– ident: e_1_2_12_41_1
  doi: 10.1038/ng1936
– ident: e_1_2_12_116_1
  doi: 10.1016/j.ajhg.2014.11.002
– ident: e_1_2_12_204_1
  doi: 10.1371/journal.pgen.1002247
– ident: e_1_2_12_108_1
  doi: 10.1172/JCI61014
– ident: e_1_2_12_201_1
  doi: 10.1016/j.semcdb.2011.07.010
– ident: e_1_2_12_195_1
  doi: 10.1038/nrg2593
– volume: 53
  start-page: 5853
  year: 1993
  ident: e_1_2_12_130_1
  article-title: Microsatellite instability is associated with tumors that characterize the hereditary non‐polyposis colorectal carcinoma syndrome
  publication-title: Cancer Res
  contributor:
    fullname: Peltomäki P
– ident: e_1_2_12_216_1
  doi: 10.1242/dev.02732
– ident: e_1_2_12_128_1
  doi: 10.1126/science.8484121
– ident: e_1_2_12_188_1
  doi: 10.1016/j.ajhg.2012.12.014
– ident: e_1_2_12_196_1
  doi: 10.1002/9780470015902.a0024976
– ident: e_1_2_12_167_1
  doi: 10.1101/gad.195248.112
– ident: e_1_2_12_91_1
  doi: 10.1038/ng.775
– ident: e_1_2_12_199_1
  doi: 10.1038/sj.ejhg.5200267
– ident: e_1_2_12_166_1
  doi: 10.1126/science.1073834
– ident: e_1_2_12_79_1
  doi: 10.1016/j.stem.2007.03.002
– ident: e_1_2_12_117_1
  doi: 10.1172/JCI78473
– ident: e_1_2_12_115_1
  doi: 10.1016/j.molcel.2012.05.048
– ident: e_1_2_12_56_1
  doi: 10.1016/j.cell.2014.03.048
– ident: e_1_2_12_122_1
  doi: 10.1016/j.tcb.2008.08.005
– ident: e_1_2_12_206_1
  doi: 10.1093/hmg/ddh062
– ident: e_1_2_12_123_1
  doi: 10.1101/cshperspect.a012799
– ident: e_1_2_12_179_1
  doi: 10.4161/nucl.1.3.11739
– ident: e_1_2_12_185_1
  doi: 10.1016/j.cell.2012.05.021
– ident: e_1_2_12_173_1
  doi: 10.1101/gad.1832309
– ident: e_1_2_12_18_1
  doi: 10.1101/gad.1508907
– ident: e_1_2_12_27_1
  doi: 10.1126/science.1083430
– ident: e_1_2_12_161_1
  doi: 10.1007/978-1-4939-1680-1_10
– ident: e_1_2_12_218_1
  doi: 10.1002/jor.20855
– ident: e_1_2_12_9_1
  doi: 10.1016/j.cell.2009.10.015
– ident: e_1_2_12_162_1
  doi: 10.1016/j.molcel.2015.07.030
– ident: e_1_2_12_64_1
  doi: 10.1006/dbio.2000.9965
– ident: e_1_2_12_97_1
  doi: 10.1038/nature10956
– ident: e_1_2_12_141_1
  doi: 10.1038/nrc2682
– ident: e_1_2_12_170_1
  doi: 10.1016/S0140-6736(71)90400-4
– ident: e_1_2_12_60_1
  doi: 10.1093/emboj/21.9.2168
– ident: e_1_2_12_16_1
  doi: 10.1038/embor.2009.5
– ident: e_1_2_12_81_1
  doi: 10.1002/humu.22245
– ident: e_1_2_12_101_1
  doi: 10.1016/j.ajhg.2016.05.019
– ident: e_1_2_12_107_1
  doi: 10.1172/JCI60224
– ident: e_1_2_12_110_1
  doi: 10.1128/MCB.25.4.1560-1568.2005
– ident: e_1_2_12_180_1
  doi: 10.1101/gad.178459.111
– ident: e_1_2_12_61_1
  doi: 10.1007/s004290100169
– ident: e_1_2_12_13_1
  doi: 10.1146/annurev.genet.41.110306.130308
– ident: e_1_2_12_129_1
  doi: 10.1126/science.8484120
– ident: e_1_2_12_132_1
  doi: 10.1038/ng.2503
– ident: e_1_2_12_14_1
  doi: 10.1146/annurev.biochem.052308.103205
– ident: e_1_2_12_212_1
  doi: 10.1136/jmg.2011.088864
– ident: e_1_2_12_98_1
  doi: 10.1038/sj.emboj.7601396
– ident: e_1_2_12_221_1
  doi: 10.1038/ncomms3065
– ident: e_1_2_12_3_1
  doi: 10.1038/nrc3916
– ident: e_1_2_12_83_1
  doi: 10.3389/fgene.2013.00019
– ident: e_1_2_12_28_1
  doi: 10.1038/nature08467
– ident: e_1_2_12_160_1
  doi: 10.1074/jbc.M113.511337
– ident: e_1_2_12_203_1
  doi: 10.1086/518696
SSID ssj0009955
Score 2.3050945
SecondaryResourceType review_article
Snippet Accurate and efficient replication of the human genome occurs in the context of an array of constitutional barriers, including regional topological constraints...
SourceID proquest
crossref
pubmed
wiley
SourceType Aggregation Database
Index Database
Publisher
StartPage 192
SubjectTerms Animals
cancer
Cell Transformation, Neoplastic
Chromatin - genetics
DNA Repair
DNA Replication
genomic instability
Genomic Instability - genetics
growth retardation
Humans
mutagenesis
Mutation - genetics
origins
pre‐replication complex
replication stress
R‐loops
Title The pathological consequences of impaired genome integrity in humans; disorders of the DNA replication machinery
URI https://onlinelibrary.wiley.com/doi/abs/10.1002%2Fpath.4828
https://www.ncbi.nlm.nih.gov/pubmed/27757957
https://www.proquest.com/docview/1850064229
https://search.proquest.com/docview/1859473694
Volume 241
hasFullText 1
inHoldings 1
isFullTextHit
isPrint
link http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1LSwMxEB6kB_Hi-7G-iOLBy7a72WSzwVOxShFaRCz0ICxJmlzEVvo46K83yT7qA0G8BZKQ3Uxm5ktm8gXgQsjYWEemwzghJCTUpKHVojQ0ShpBeBYJT9fU66fdAbkb0uEKXFV3YQp-iPrAzWmGt9dOwYWctZakoe7F3iaxGwZrf-OEuXS-zsOSOopzSmumcBKzilUowq2651df9ANgfsWr3uHcbsBT9alFnslzczGXTfX-jcXxn_-yCeslEEXtYuVswYoeb8Nqrwy178CrXUDI9aisI1KfEq_RxCB3wdIazBFyPK8vGhXMExbV2xLyb__NrtCoZPf0PSzYRJ1-G011HTVHLz6bU0_fdmFwe_N43Q3L5xlCZXc5WZhmhOJMmIxqRoTMolQmKkmwjlLD4ySNJeFYEhFrh-NEkhEdUcMppsLokQWOe9AYT8b6AJDmUaQUE9ZRaqLsDk3KiDGpmBopIbAJ4LwSVP5asHDkBd8yzt1M5G7uAjiuRJiXijjLLRxxqAtjHsBZXW1VyMVFxFhPFr4NJyxJOQlgvxB9PQpmjDJOWQCXXoC_D5_ftx-7rnD496ZHsIYdTPBHOsfQmE8X-sSCnLk89av5A8ur-fU
link.rule.ids 314,780,784,1375,27924,27925,46294,46718
linkProvider Wiley-Blackwell
linkToHtml http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1LTyQhEK64mrheXF-r7fpA48FLj900NE3cy0SdjI-ZGDMmXkwHGLhsnDHzOOivF-iHusbEeCMBQjdFVX1QxQfAgZCxsY5Mh3FCSEioSUOrRWlolDSC8CwSnq6p003bt-Tijt7NwN_qLkzBD1EfuDnN8PbaKbg7kD56ZQ11T_Y2iN0x_IA5q-6xS-g6vXklj-Kc0pornMSs4hWK8FHd9b03-gAx3yNW73Jav-C--tgi0-RfYzqRDfX8H4_jd_9mCRZLLIqaxeJZhhk9WIH5ThltX4VHu4aQ61EZSKTe5F6joUHujqW1mX3kqF4fNCrIJyywtyXkn_8bH6N-SfDpe1i8iU67TTTSdeAcPfiETj16WoPb1lnvpB2WLzSEym50sjDNCMWZMBnVjAiZRalMVJJgHaWGx0kaS8KxJCLWDsqJJCM6ooZTTIXRfYsdf8PsYDjQG4A0jyKlmLBy1ETZTZqUEWNSMdVXQmATwH4lqfyxIOLIC8plnLuZyN3cBbBVyTAvdXGcW0TigBfGPIC9utpqkQuNiIEeTn0bTliSchLAeiH7ehTMGGWcsgAOvQQ_Hz6_bvbarrD59aa78LPd61zlV-fdyz-wgB1q8Cc8WzA7GU31tsU8E7njl_YLbof-Fg
linkToPdf http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnZ3JT-MwFIefGJDQXNhmIayeEYe5pCSOl1icKkpVtgqNQOIwUmQ79mVEW5X2AH89trOwjJBG3CwllhM_P7-ft88AB1Kl1gUyE6cZITGhlsXOi1hstbKSiDyRAdd0OWSDG3J2S28X4Kg5C1PxIdoJN-8Zob_2Dj4p7eEzNNTf2NshbsDwCZYIw8KD83u_n9lRQlDaosJJyhusUIIP26yvg9E_CvO1YA0Rp78Kf5pvrTaa_O3MZ6qjH99gHD_4M2uwUitR1K2azjosmNEGLF_Wa-1fYOJaEPI5mu4R6Rc7r9HYIn_C0vWYJfKg1zuDKvSEk_UuhcLlf_dHqKzxniGHU5uoN-yiqWmXzdFd2M5ppg9f4aZ_cn08iOv7GWLthjl5zHJCcS5tTg0nUuUJU5nOMmwSZkWasVQRgRWRqfFCTmY5MQm1gmIqrSmdcvwGi6PxyGwCMiJJtObSRUpDtBuiKZVwrjTXpZYS2wh-NoYqJhWGo6iAy7jwNVH4uotgpzFhUXvifeH0iJddGIsIfrSPnQ_5hRE5MuN5eEcQnjFBIvhemb4tBXNOuaA8gl_BgO8XX1x1rwc-sfX_r-7D8lWvX1ycDs-34TP2kiFM7-zA4mw6N7tO8MzUXmjYT4Cm_MU
openUrl ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=The+pathological+consequences+of+impaired+genome+integrity+in+humans%3B+disorders+of+the+DNA+replication+machinery&rft.jtitle=The+Journal+of+pathology&rft.au=O%27Driscoll%2C+Mark&rft.date=2017-01-01&rft.issn=0022-3417&rft.eissn=1096-9896&rft.volume=241&rft.issue=2&rft.spage=192&rft.epage=207&rft_id=info:doi/10.1002%2Fpath.4828&rft.externalDBID=NO_FULL_TEXT
thumbnail_l http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0022-3417&client=summon
thumbnail_m http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0022-3417&client=summon
thumbnail_s http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0022-3417&client=summon