SNAI2 mutation causes human piebaldism

Saved in:
Bibliographic Details
Published inAmerican journal of medical genetics. Part A Vol. 164A; no. 3; pp. 855 - 857
Main Authors Yang, Yong-jia, Zhao, Rui, He, Xin-yu, Li, Li-ping, Chen, Weijian, Wang, Ke-wei, Zhao, Liu, Tu, Ming, Tang, Jin-song, Xie, Zhi-guo, Zhu, Yi-min
Format Journal Article
LanguageEnglish
Published United States Blackwell Publishing Ltd 01.03.2014
Wiley Subscription Services, Inc
Subjects
Gene Deletion
Humans
Piebaldism - genetics
Transcription Factors - genetics
Online AccessGet full text

Cover

Author Yang, Yong-jia
Tang, Jin-song
Xie, Zhi-guo
Tu, Ming
Li, Li-ping
Zhao, Liu
Wang, Ke-wei
He, Xin-yu
Zhu, Yi-min
Zhao, Rui
Chen, Weijian
Author_xml – sequence: 1
  givenname: Yong-jia
  surname: Yang
  fullname: Yang, Yong-jia
  organization: The Lab. of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, The Paediatric Academy of University of South China, Changsha, China
– sequence: 2
  givenname: Rui
  surname: Zhao
  fullname: Zhao, Rui
  organization: The Lab. of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, The Paediatric Academy of University of South China, Changsha, China
– sequence: 3
  givenname: Xin-yu
  surname: He
  fullname: He, Xin-yu
  organization: The Lab. of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, The Paediatric Academy of University of South China, Changsha, China
– sequence: 4
  givenname: Li-ping
  surname: Li
  fullname: Li, Li-ping
  organization: The Lab. of Basic Medicine, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, The Paediatric Academy of University of South China, Changsha, China
– sequence: 5
  givenname: Weijian
  surname: Chen
  fullname: Chen, Weijian
  organization: The Lab. of Basic Medicine, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, The Paediatric Academy of University of South China, Changsha, China
– sequence: 6
  givenname: Ke-wei
  surname: Wang
  fullname: Wang, Ke-wei
  organization: The Department of Science and Technology, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, The Paediatric Academy of University of South China, Changsha, China
– sequence: 7
  givenname: Liu
  surname: Zhao
  fullname: Zhao, Liu
  organization: The Lab. of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, The Paediatric Academy of University of South China, Changsha, China
– sequence: 8
  givenname: Ming
  surname: Tu
  fullname: Tu, Ming
  organization: The Lab. of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, The Paediatric Academy of University of South China, Changsha, China
– sequence: 9
  givenname: Jin-song
  surname: Tang
  fullname: Tang, Jin-song
  organization: Institute of Mental Health, Second Xiangya Hospital, Central South University, Changsha, China
– sequence: 10
  givenname: Zhi-guo
  surname: Xie
  fullname: Xie, Zhi-guo
  organization: Institute of Endocrinology Mental Health, Second Xiangya Hospital, Central South University, Changsha, China
– sequence: 11
  givenname: Yi-min
  surname: Zhu
  fullname: Zhu, Yi-min
  email: Correspondence to:Prof. Yi-min Zhu, The Lab. of Genetics and Metabolism, Hunan Children's Research Institute, Hunan Children's Hospital, The Paediatric Academy of University of South China, Changsha, China., xiangeryiym@aliyun.com
  organization: The Lab. of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, The Paediatric Academy of University of South China, Changsha, China
BackLink https://www.ncbi.nlm.nih.gov/pubmed/24443330$$D View this record in MEDLINE/PubMed
BookMark eNp90MtPwkAQBvCNwchDb54NiYnxYHF3Zx_tsSGCKOBBoomXzXbZarEP7NIo_71FkIMHTzOH33yZfG3UyIvcInRKcI9gTK_1Invt6R4IAHqAWoRz6jEfoLHfKW-itnMLjAFzKY5QkzLGAAC30MXjNBzRblat9Cop8q7RlbOu-1ZlOu8uExvpdJ647Bgdxjp19mQ3O2g2uJn1b73xw3DUD8eeYZhSb44FBFoS8Jk_DzgNIl9ioUUUQ2xIbCISC-v7ATXAsJSGM2okiwUVQGxsoYMut7HLsviorFupLHHGpqnObVE5RThmjIOUQU3P_9BFUZV5_dxGYc59ilmtrrbKlIVzpY3VskwyXa4VwWpTn9rUp7T6qa_mZ7vQKsrsfI9_-6oB24LPJLXrf8NUeDcZhr-53vYscSv7tT_T5bsSEiRXz9OhGr9MBk9kSNU9fAO_sIk0
CitedBy_id crossref_primary_10_1111_pde_13713
crossref_primary_10_1002_em_22511
crossref_primary_10_1002_ajmg_a_61887
crossref_primary_10_1016_j_jdcr_2017_10_005
crossref_primary_10_1016_j_clindermatol_2019_07_018
Cites_doi 10.1093/nar/gkm407
10.1093/hmg/11.25.3231
10.1182/blood.V100.4.1274.h81602001274_1274_1286
10.1002/ajmg.a.20345
10.1007/PL00006200
ContentType Journal Article
Copyright 2014 Wiley Periodicals, Inc.
Copyright_xml – notice: 2014 Wiley Periodicals, Inc.
DBID BSCLL
CGR
CUY
CVF
ECM
EIF
NPM
AAYXX
CITATION
7QP
7TK
8FD
FR3
K9.
P64
RC3
7X8
DOI 10.1002/ajmg.a.36332
DatabaseName Istex
Medline
MEDLINE
MEDLINE (Ovid)
MEDLINE
MEDLINE
PubMed
CrossRef
Calcium & Calcified Tissue Abstracts
Neurosciences Abstracts
Technology Research Database
Engineering Research Database
ProQuest Health & Medical Complete (Alumni)
Biotechnology and BioEngineering Abstracts
Genetics Abstracts
MEDLINE - Academic
DatabaseTitle MEDLINE
Medline Complete
MEDLINE with Full Text
PubMed
MEDLINE (Ovid)
CrossRef
Genetics Abstracts
Technology Research Database
ProQuest Health & Medical Complete (Alumni)
Engineering Research Database
Calcium & Calcified Tissue Abstracts
Neurosciences Abstracts
Biotechnology and BioEngineering Abstracts
MEDLINE - Academic
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
Biology
EISSN 1552-4833
EndPage 857
ExternalDocumentID 3224233951
10_1002_ajmg_a_36332
24443330
AJMGA36332
ark_67375_WNG_LZMFV1G2_K
Genre letter
Letter
Comment
Research Support, Non-U.S. Gov't
GrantInformation_xml – fundername: National Science and Technology Support Program
  funderid: 2012BAI04B00
– fundername: National Natural Science Foundation of China
  funderid: 81271946
– fundername: Hunan Nature‐Science Foundation
  funderid: 2012SK3258
GroupedDBID ---
.55
.GA
.Y3
05W
10A
1L6
1OC
23M
31~
33P
3O-
4.4
50Y
51W
51X
52M
52N
52O
52P
52S
52T
52W
52X
53G
5GY
5VS
66C
6P2
702
7PT
8-1
8-4
8-5
8UM
930
A03
AAEVG
AAHHS
AAJUZ
AANLZ
AAONW
AASGY
AAXRX
AAZKR
ABCQN
ABCUV
ABCVL
ABEML
ABHUG
ABIJN
ABWRO
ACAHQ
ACBWZ
ACCFJ
ACCZN
ACFBH
ACGFO
ACGFS
ACPOU
ACPRK
ACSCC
ACXBN
ACXME
ACXQS
ADAWD
ADDAD
ADEOM
ADIZJ
ADKYN
ADMGS
ADOZA
ADXAS
ADZMN
ADZOD
AEEZP
AEIGN
AEIMD
AENEX
AEQDE
AEQTP
AEUQT
AEUYR
AFBPY
AFFPM
AFGKR
AFPWT
AFVGU
AFZJQ
AGJLS
AHBTC
AIURR
AIWBW
AJBDE
ALMA_UNASSIGNED_HOLDINGS
ALUQN
AMBMR
AMYDB
ATUGU
AZBYB
AZFZN
BDRZF
BFHJK
BRXPI
BSCLL
BY8
C45
CO8
CS3
D-F
DCZOG
DPXWK
DR2
DRFUL
DRSTM
EBD
EBS
EJD
EMOBN
F00
F01
F04
F5P
FEDTE
G-S
GNP
GODZA
HBH
HF~
HHY
HHZ
HVGLF
IX1
JPC
KD1
KQQ
L7B
LATKE
LAW
LC2
LC3
LEEKS
LH4
LITHE
LOXES
LP6
LP7
LUTES
LYRES
MK4
MRFUL
MRSTM
MSFUL
MSSTM
MXFUL
MXSTM
OVD
P2W
P4D
QB0
QRW
ROL
RWI
RX1
RYL
SUPJJ
SV3
TEORI
UB1
V2E
WIH
WIK
WJL
WQJ
WRC
X7M
XG1
XV2
AITYG
HGLYW
OIG
CGR
CUY
CVF
ECM
EIF
NPM
AAYXX
CITATION
7QP
7TK
8FD
FR3
K9.
P64
RC3
7X8
ID FETCH-LOGICAL-c4022-d0639a713848d9529b8706a6bf3fc1fcb1f6e8892c34077c542c74f62631efe3
IEDL.DBID DR2
ISSN 1552-4825
IngestDate Fri Aug 16 06:04:18 EDT 2024
Thu Oct 10 22:05:06 EDT 2024
Fri Aug 23 01:04:38 EDT 2024
Sat Sep 28 07:58:17 EDT 2024
Sat Aug 24 00:54:14 EDT 2024
Wed Jan 17 05:00:57 EST 2024
IsPeerReviewed true
IsScholarly true
Issue 3
Language English
LinkModel DirectLink
MergedId FETCHMERGED-LOGICAL-c4022-d0639a713848d9529b8706a6bf3fc1fcb1f6e8892c34077c542c74f62631efe3
Notes National Natural Science Foundation of China - No. 81271946
ArticleID:AJMGA36332
Hunan Nature-Science Foundation - No. 2012SK3258
ark:/67375/WNG-LZMFV1G2-K
National Science and Technology Support Program - No. 2012BAI04B00
istex:6F6090770431BE34950E979E9E720F0ED6BE2E4B
SourceType-Other Sources-1
content type line 63
ObjectType-Correspondence-1
ObjectType-Commentary-2
ObjectType-Article-3
PMID 24443330
PQID 1500558204
PQPubID 2028748
PageCount 3
ParticipantIDs proquest_miscellaneous_1504453779
proquest_journals_1500558204
crossref_primary_10_1002_ajmg_a_36332
pubmed_primary_24443330
wiley_primary_10_1002_ajmg_a_36332_AJMGA36332
istex_primary_ark_67375_WNG_LZMFV1G2_K
PublicationCentury 2000
PublicationDate March 2014
PublicationDateYYYYMMDD 2014-03-01
PublicationDate_xml – month: 03
  year: 2014
  text: March 2014
PublicationDecade 2010
PublicationPlace United States
PublicationPlace_xml – name: United States
– name: Hoboken
PublicationTitle American journal of medical genetics. Part A
PublicationTitleAlternate Am. J. Med. Genet
PublicationYear 2014
Publisher Blackwell Publishing Ltd
Wiley Subscription Services, Inc
Publisher_xml – name: Blackwell Publishing Ltd
– name: Wiley Subscription Services, Inc
References Sánchez-Martín M, Pérez-Losada J, Rodríguez-García A, González-Sánchez B, Korf BR, Kuster W, Moss C, Spritz RA, Sánchez-García I. 2003. Deletion of the SLUG (SNAI2) gene results in human piebaldism. Am J Med Genet A 122A:125-132.
Pérez-Losada J, Sánchez-Martín M, Rodríguez-García A, Sánchez ML, Orfao A, Flores T, Sánchez-García I. 2002. Zinc-finger transcription factor Slug contributes to the function of the stem cell factor c-kit signaling pathway. Blood 100:1274-1286.
Rama Devi AR, Reddy EC, Ranjan S, Bashyam MD. 2009. Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes. Br J Dermatol 158:163-167.
Rogozin IB, Milanesi L. 1997. Analysis of donor splice sites in different eukaryotic organisms. J Mol Evol 45:50-59.
Dogan RI, Getoor L, Wilbur WJ, Mount SM. 2007. SplicePort-An interactive splice-site analysis tool. Nucleic Acids Res 35:W285-W291.
Sánchez-Martín M, Rodríguez-García A, Pérez-Losada J, Sagrera A, Read AP, Sánchez-García I. 2002. SLUG (SNAI2) deletions in patients with Waardenburg disease. Hum Mol Genet 11:3231-3236.
2007; 35
2009; 158
2003; 122A
2002; 100
1997; 45
2002; 11
12955764 - Am J Med Genet A. 2003 Oct 1;122A(2):125-32
e_1_2_3_2_1
e_1_2_3_7_1
e_1_2_3_6_1
e_1_2_3_5_1
Rama Devi AR (e_1_2_3_4_1) 2009; 158
e_1_2_3_3_1
References_xml – volume: 122A
  start-page: 125
  year: 2003
  end-page: 132
  article-title: Deletion of the SLUG (SNAI2) gene results in human piebaldism
  publication-title: Am J Med Genet A
– volume: 45
  start-page: 50
  year: 1997
  end-page: 59
  article-title: Analysis of donor splice sites in different eukaryotic organisms
  publication-title: J Mol Evol
– volume: 11
  start-page: 3231
  year: 2002
  end-page: 3236
  article-title: SLUG (SNAI2) deletions in patients with Waardenburg disease
  publication-title: Hum Mol Genet
– volume: 35
  start-page: W285–
  year: 2007
  end-page: W291
  article-title: SplicePort—An interactive splice‐site analysis tool
  publication-title: Nucleic Acids Res
– volume: 158
  start-page: 163
  year: 2009
  end-page: 167
  article-title: Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes
  publication-title: Br J Dermatol
– volume: 100
  start-page: 1274
  year: 2002
  end-page: 1286
  article-title: Zinc‐finger transcription factor Slug contributes to the function of the stem cell factor c‐kit signaling pathway
  publication-title: Blood
– ident: e_1_2_3_2_1
  doi: 10.1093/nar/gkm407
– ident: e_1_2_3_7_1
  doi: 10.1093/hmg/11.25.3231
– ident: e_1_2_3_3_1
  doi: 10.1182/blood.V100.4.1274.h81602001274_1274_1286
– ident: e_1_2_3_6_1
  doi: 10.1002/ajmg.a.20345
– volume: 158
  start-page: 163
  year: 2009
  ident: e_1_2_3_4_1
  article-title: Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes
  publication-title: Br J Dermatol
  contributor:
    fullname: Rama Devi AR
– ident: e_1_2_3_5_1
  doi: 10.1007/PL00006200
SSID ssj0030576
Score 2.1097004
SourceID proquest
crossref
pubmed
wiley
istex
SourceType Aggregation Database
Index Database
Publisher
StartPage 855
SubjectTerms Gene Deletion
Humans
Piebaldism - genetics
Transcription Factors - genetics
Title SNAI2 mutation causes human piebaldism
URI https://api.istex.fr/ark:/67375/WNG-LZMFV1G2-K/fulltext.pdf
https://onlinelibrary.wiley.com/doi/abs/10.1002%2Fajmg.a.36332
https://www.ncbi.nlm.nih.gov/pubmed/24443330
https://www.proquest.com/docview/1500558204
https://search.proquest.com/docview/1504453779
Volume 164A
hasFullText 1
inHoldings 1
isFullTextHit
isPrint
link http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV3dTxQxEJ8QDMYXRPxaQbMkyNse9GP3dh8vxDtA7h4QlfjS9NMg3EHY20T86-20e6sYQ6Jvm2ybfkyn_U1n-huAbUKcF2ulvJHj1Y077bKKVSbThBlFCyuJwYfC40lx8JEfneVn7YUbvoWJ_BDdhRtqRtivUcGlqnd_kYbKb9OvPdljBWO4BSOXHmKik449yq_kkFsOScYy7i2hNu7dV9_9vfKdE-kBTu73v8HNu-g1HD_DxyAWHY9RJxe9Zq56-scfnI7_P7I1WG2RaTqIS-kJLNnZOqzEXJW36_Bw3Hrhn8LOh8ngkKbTJrrxUy2b2tZpSPeXXp9bJS_NeT19BqfDd6f7B1mbbyHTHIP6DcIV6a3Wkpemymml0AkqC-WY08RpRVxhy7KimnkzsK9zTnWfO-SzIdZZ9hyWZ1cz-xJSv1EUiOWoooQbaj3MM5IQ7apSGlfuJfB2MeXiOrJqiMifTAWOXkgRRp_ATpBHV0jeXGAkWj8XnycjcfxlPPxERlS8T2BzITDRKmEtPNbdy3MPcXgCW91vrz7oE5Eze9WEMpznyLqYwIso6K4xj3w4Y8z3NgviurerYnA0Hg3C56t_LL8BjzwM4zGybROW5zeNfe2hzly9CQv6J7029C8
link.rule.ids 315,786,790,1382,27955,27956,46327,46751
linkProvider Wiley-Blackwell
linkToHtml http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwpV1ZbxMxEB6hVhwvHOVaKLBI0LdN62M3u48RkKRtNg8QoOLF-ESlJK2arAT8esb2ZqEIISHeVlpbPsZjf-MZfwPwjBCHYq0UGjmobtxpl1WsMpkmzChaWEmMfyhcT4vxW35wlB-1eU79W5jID9FduHnNCPu1V3B_Ib37kzVUfp5_6skeKxjDPXgTNT73mvnydccfhWs5ZJfzNGMZR1uojXzH-ru_1r5wJm366f36J8B5Eb-GA2h4Az6uux7jTk56zUr19PffWB3_Y2w34XoLTtNBXE234JJdbMHlmK7y2xZcqVtH_G3YeTMd7NN03kRPfqpls7TLNGT8S8-OrZJfzPFyfgdmw1ezF-OsTbmQae7j-o1HLBIN15KXpspppbwfVBbKMaeJ04q4wpZlRTVDS7Cvc051nztPaUOss-wubCxOF_Y-pLhXFB7OUUUJN9Qi0jOSEO2qUhpX7iXwfD3n4iwSa4hIoUyFH72QIow-gZ0gkK6QPD_xwWj9XLyfjsTkQz18R0ZUHCawvZaYaPVwKRDu7uU5ohyewNPuN2qQd4vIhT1tQhnOc0-8mMC9KOmuMQQ_nDGGvc2CvP7aVTE4qEeD8PngH8s_gavjWT0Rk_3p4UO4hqiMx0C3bdhYnTf2ESKflXocVvcPG3_4Tw
linkToPdf http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1ZbxMxEB6hVlS80FKuLQUWCfq2aX3sZvcxoiS9EiEoUPXF8ol6JI2arAT8-o7tzUIRQoK3ldaWj_HY33jG3wC8JsShWCuFRg6qG3faZRWrTKYJM4oWVhLjHwoPR8XeJ35wkp80F27-LUzkh2gv3LxmhP3aK_jUuO2fpKHyfPy1IzusYAy34GVeMOqNr90PLX0ULuWQXM6zjGUcTaEm8B3rb_9a-9aRtOxn99uf8OZt-BrOn_4qiEXPY9jJRaeeq47-8Rup4_8PbQ3uN9A07cW19ADu2Mk63I3JKr-vw8qwccM_hK2Po94-Tcd19OOnWtYzO0tDvr90emaVvDRns_EjOO6_O367lzUJFzLNfVS_8XhFotla8tJUOa2U94LKQjnmNHFaEVfYsqyoZmgHdnXOqe5y5wltiHWWPYalydXEPoUUd4rCgzmqKOGGWsR5RhKiXVVK48qdBN4splxMI62GiATKVPjRCynC6BPYCvJoC8nrCx-K1s3Fl9FAHJ0O-5_JgIrDBDYXAhONFs4Egt2dPEeMwxN41f5G_fFOETmxV3Uow3nuaRcTeBIF3TaG0IczxrC3WRDXX7sqegfDQS98bvxj-Zew8n63L472R4fP4B5CMh6j3DZhaX5d2-cIe-bqRVjbNzD89v4
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=SNAI2+mutation+causes+human+piebaldism&rft.jtitle=American+journal+of+medical+genetics.+Part+A&rft.au=Yang%2C+Yong-jia&rft.au=Zhao%2C+Rui&rft.au=He%2C+Xin-yu&rft.au=Li%2C+Li-ping&rft.date=2014-03-01&rft.eissn=1552-4833&rft.volume=164A&rft.issue=3&rft.spage=855&rft.epage=857&rft_id=info:doi/10.1002%2Fajmg.a.36332&rft.externalDBID=NO_FULL_TEXT
thumbnail_l http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=1552-4825&client=summon
thumbnail_m http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=1552-4825&client=summon
thumbnail_s http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=1552-4825&client=summon