Molecular Genetic Diagnosis of Omani Patients With Inherited Cystic Kidney Disease

Saved in:
Bibliographic Details
Published inKidney international reports Vol. 4; no. 12; pp. 1751 - 1759
Main Authors Al Alawi, Intisar, Al Salmi, Issa, Al Rahbi, Fatma, Al Riyami, Mohamed, Al Kalbani, Naifain, Al Ghaithi, Badria, Al Mawali, Adhra, Sayer, John A.
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.12.2019
Elsevier
Subjects
Research Letter
Online AccessGet full text

Cover

Author Al Ghaithi, Badria
Al Rahbi, Fatma
Al Alawi, Intisar
Al Kalbani, Naifain
Al Mawali, Adhra
Sayer, John A.
Al Riyami, Mohamed
Al Salmi, Issa
AuthorAffiliation 3 Renal Medicine Department, Ministry of Health, Royal Hospital, Muscat, Oman
1 Institute of Genetic Medicine, International Centre for Life, University of Newcastle, Newcastle upon Tyne, Tyne and Wear, UK
6 Renal Services, Newcastle Upon Tyne Hospitals National Health Service Trust, Newcastle upon Tyne, Tyne and Wear, UK
7 National Institute for Health Research Newcastle Biomedical Research Centre, Newcastle upon Tyne, Tyne and Wear, UK
2 National Genetic Center, Ministry of Health, Muscat, Oman
4 Pediatric Nephrology Unit, Department of Child Health, Ministry of Health, Royal Hospital, Muscat, Oman
5 Center of Studies and Research, Ministry of Health, Muscat, Oman
AuthorAffiliation_xml – name: 6 Renal Services, Newcastle Upon Tyne Hospitals National Health Service Trust, Newcastle upon Tyne, Tyne and Wear, UK
– name: 2 National Genetic Center, Ministry of Health, Muscat, Oman
– name: 4 Pediatric Nephrology Unit, Department of Child Health, Ministry of Health, Royal Hospital, Muscat, Oman
– name: 1 Institute of Genetic Medicine, International Centre for Life, University of Newcastle, Newcastle upon Tyne, Tyne and Wear, UK
– name: 3 Renal Medicine Department, Ministry of Health, Royal Hospital, Muscat, Oman
– name: 5 Center of Studies and Research, Ministry of Health, Muscat, Oman
– name: 7 National Institute for Health Research Newcastle Biomedical Research Centre, Newcastle upon Tyne, Tyne and Wear, UK
Author_xml – sequence: 1
  givenname: Intisar
  surname: Al Alawi
  fullname: Al Alawi, Intisar
  organization: Institute of Genetic Medicine, International Centre for Life, University of Newcastle, Newcastle upon Tyne, Tyne and Wear, UK
– sequence: 2
  givenname: Issa
  surname: Al Salmi
  fullname: Al Salmi, Issa
  organization: Renal Medicine Department, Ministry of Health, Royal Hospital, Muscat, Oman
– sequence: 3
  givenname: Fatma
  surname: Al Rahbi
  fullname: Al Rahbi, Fatma
  organization: Renal Medicine Department, Ministry of Health, Royal Hospital, Muscat, Oman
– sequence: 4
  givenname: Mohamed
  orcidid: 0000-0003-3698-5609
  surname: Al Riyami
  fullname: Al Riyami, Mohamed
  organization: Pediatric Nephrology Unit, Department of Child Health, Ministry of Health, Royal Hospital, Muscat, Oman
– sequence: 5
  givenname: Naifain
  surname: Al Kalbani
  fullname: Al Kalbani, Naifain
  organization: Pediatric Nephrology Unit, Department of Child Health, Ministry of Health, Royal Hospital, Muscat, Oman
– sequence: 6
  givenname: Badria
  surname: Al Ghaithi
  fullname: Al Ghaithi, Badria
  organization: Pediatric Nephrology Unit, Department of Child Health, Ministry of Health, Royal Hospital, Muscat, Oman
– sequence: 7
  givenname: Adhra
  surname: Al Mawali
  fullname: Al Mawali, Adhra
  organization: Center of Studies and Research, Ministry of Health, Muscat, Oman
– sequence: 8
  givenname: John A.
  orcidid: 0000-0003-1881-3782
  surname: Sayer
  fullname: Sayer, John A.
  email: john.sayer@newcastle.ac.uk
  organization: Institute of Genetic Medicine, International Centre for Life, University of Newcastle, Newcastle upon Tyne, Tyne and Wear, UK
BackLink https://www.ncbi.nlm.nih.gov/pubmed/31844813$$D View this record in MEDLINE/PubMed
BookMark eNp9UV1LHDEUDWJRa_0DPsg89mWnNx8zk0AplNVaqcVSKj6GTHLHzXY20WRW2H_fLGvFvvTpXrjnnHs45y3ZDzEgIacUagq0_bCs8bdPNQOqapA1ULZHjpho5QyYUPuv9kNykvMSAGjXNgrkATnkVAohKT8iP7_HEe16NKm6xICTt9W5N_chZp-rOFQ3KxN89cNMHsOUqzs_LaqrsMDkJ3TVfJO3jG_eBdwUYkaT8R15M5gx48nzPCa3Xy5-zb_Orm8ur-afr2dWNM0066BnTAnBkXLZ9qCUFAoG58A2jKNTUiJjvVLQqqYX6LpBmaEbLO0G7KXjx-TTTvdh3a_Q2WIwmVE_JL8yaaOj8frfS_ALfR-fdCtV0zaiCLx_FkjxcY150iufLY6jCRjXWTPOOsUl47RA2Q5qU8w54fDyhoLe9qGXetuH3vahQerSRyGdvTb4QvmbfgF83AGwxPTkMelsS84WnU9oJ-2i_5_-H7IUnpk
CitedBy_id crossref_primary_10_1007_s13730_024_00871_5
crossref_primary_10_1002_mgg3_2201
crossref_primary_10_1186_s12882_020_02207_8
crossref_primary_10_1002_ajmg_c_31995
crossref_primary_10_1186_s12882_020_02013_2
crossref_primary_10_1053_j_ajkd_2023_06_006
Cites_doi 10.1007/s00439-013-1297-0
10.1097/01.ASN.0000078805.87038.05
10.7326/0003-4819-140-7-200404060-00009
10.1086/340448
10.1038/ng.662
10.1136/jmg.2005.032854
10.1038/ng1097-149
10.1681/ASN.2011101032
10.1038/ng833
ContentType Journal Article
Copyright 2019 International Society of Nephrology
2019 International Society of Nephrology. Published by Elsevier Inc. 2019 International Society of Nephrology
Copyright_xml – notice: 2019 International Society of Nephrology
– notice: 2019 International Society of Nephrology. Published by Elsevier Inc. 2019 International Society of Nephrology
DBID 6I.
AAFTH
NPM
AAYXX
CITATION
7X8
5PM
DOI 10.1016/j.ekir.2019.08.012
DatabaseName ScienceDirect Open Access Titles
Elsevier:ScienceDirect:Open Access
PubMed
CrossRef
MEDLINE - Academic
PubMed Central (Full Participant titles)
DatabaseTitle PubMed
CrossRef
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
DeliveryMethod fulltext_linktorsrc
Discipline Medicine
EISSN 2468-0249
EndPage 1759
ExternalDocumentID 10_1016_j_ekir_2019_08_012
31844813
S2468024919314688
Genre Journal Article
GroupedDBID 0R~
0SF
53G
5VS
6I.
AACTN
AAEDW
AAFTH
AALRI
AAXUO
ABMAC
ACGFS
ADBBV
AEXQZ
AFTJW
AITUG
ALMA_UNASSIGNED_HOLDINGS
AMRAJ
AOIJS
BCNDV
EBS
EJD
FDB
GROUPED_DOAJ
HYE
IPNFZ
M41
M~E
NCXOZ
O9-
OK1
RIG
ROL
RPM
SSZ
ADVLN
AFJKZ
NPM
AAYXX
CITATION
7X8
5PM
ID FETCH-LOGICAL-c455t-70b229443e1386b0998490fdd0c523ed988e22b990695b4ed7f9af7fc17feb8d3
IEDL.DBID RPM
ISSN 2468-0249
IngestDate Tue Sep 17 21:25:40 EDT 2024
Sat Oct 05 06:18:35 EDT 2024
Thu Sep 26 17:21:01 EDT 2024
Sat Sep 28 08:38:40 EDT 2024
Wed May 17 00:13:22 EDT 2023
IsDoiOpenAccess true
IsOpenAccess true
IsPeerReviewed true
IsScholarly true
Issue 12
Language English
License This is an open access article under the CC BY-NC-ND license.
This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
LinkModel DirectLink
MergedId FETCHMERGED-LOGICAL-c455t-70b229443e1386b0998490fdd0c523ed988e22b990695b4ed7f9af7fc17feb8d3
Notes ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ORCID 0000-0003-3698-5609
0000-0003-1881-3782
OpenAccessLink https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6895654/
PMID 31844813
PQID 2327938231
PQPubID 23479
PageCount 9
ParticipantIDs pubmedcentral_primary_oai_pubmedcentral_nih_gov_6895654
proquest_miscellaneous_2327938231
crossref_primary_10_1016_j_ekir_2019_08_012
pubmed_primary_31844813
elsevier_sciencedirect_doi_10_1016_j_ekir_2019_08_012
PublicationCentury 2000
PublicationDate 2019-12-01
PublicationDateYYYYMMDD 2019-12-01
PublicationDate_xml – month: 12
  year: 2019
  text: 2019-12-01
  day: 01
PublicationDecade 2010
PublicationPlace United States
PublicationPlace_xml – name: United States
PublicationTitle Kidney international reports
PublicationTitleAlternate Kidney Int Rep
PublicationYear 2019
Publisher Elsevier Inc
Elsevier
Publisher_xml – name: Elsevier Inc
– name: Elsevier
References Ward, Hogan, Rossetti (bib5) 2002; 30
Edghill, Bingham, Ellard (bib7) 2006; 43
Bellanne-Chantelot, Chauveau, Gautier (bib9) 2004; 140
Rossetti, Hopp, Sikkink (bib1) 2012; 23
Halbritter, Porath, Diaz (bib2) 2013; 132
Otto, Hurd, Airik (bib6) 2010; 42
Hildebrandt, Otto, Rensing (bib8) 1997; 17
Furu, Onuchic, Gharavi (bib4) 2003; 14
Onuchic, Furu, Nagasawa (bib3) 2002; 70
Rossetti (10.1016/j.ekir.2019.08.012_bib1) 2012; 23
Otto (10.1016/j.ekir.2019.08.012_bib6) 2010; 42
Bellanne-Chantelot (10.1016/j.ekir.2019.08.012_bib9) 2004; 140
Onuchic (10.1016/j.ekir.2019.08.012_bib3) 2002; 70
Ward (10.1016/j.ekir.2019.08.012_bib5) 2002; 30
Hildebrandt (10.1016/j.ekir.2019.08.012_bib8) 1997; 17
Furu (10.1016/j.ekir.2019.08.012_bib4) 2003; 14
Halbritter (10.1016/j.ekir.2019.08.012_bib2) 2013; 132
Edghill (10.1016/j.ekir.2019.08.012_bib7) 2006; 43
References_xml – volume: 23
  start-page: 915
  year: 2012
  end-page: 933
  ident: bib1
  article-title: Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing
  publication-title: J Am Soc Nephrol
  contributor:
    fullname: Sikkink
– volume: 17
  start-page: 149
  year: 1997
  end-page: 153
  ident: bib8
  article-title: A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1
  publication-title: Nat Genet
  contributor:
    fullname: Rensing
– volume: 70
  start-page: 1305
  year: 2002
  end-page: 1317
  ident: bib3
  article-title: PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats
  publication-title: Am J Hum Genet
  contributor:
    fullname: Nagasawa
– volume: 132
  start-page: 865
  year: 2013
  end-page: 884
  ident: bib2
  article-title: Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy
  publication-title: Hum Genet
  contributor:
    fullname: Diaz
– volume: 14
  start-page: 2004
  year: 2003
  end-page: 2014
  ident: bib4
  article-title: Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations
  publication-title: J Am Soc Nephrol
  contributor:
    fullname: Gharavi
– volume: 140
  start-page: 510
  year: 2004
  end-page: 517
  ident: bib9
  article-title: Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations
  publication-title: Ann Intern Med
  contributor:
    fullname: Gautier
– volume: 30
  start-page: 259
  year: 2002
  end-page: 269
  ident: bib5
  article-title: The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein
  publication-title: Nat Genet
  contributor:
    fullname: Rossetti
– volume: 42
  start-page: 840
  year: 2010
  end-page: 850
  ident: bib6
  article-title: Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
  publication-title: Nat Genet
  contributor:
    fullname: Airik
– volume: 43
  start-page: 84
  year: 2006
  end-page: 90
  ident: bib7
  article-title: Mutations in hepatocyte nuclear factor-1beta and their related phenotypes
  publication-title: J Med Genet
  contributor:
    fullname: Ellard
– volume: 132
  start-page: 865
  year: 2013
  ident: 10.1016/j.ekir.2019.08.012_bib2
  article-title: Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy
  publication-title: Hum Genet
  doi: 10.1007/s00439-013-1297-0
  contributor:
    fullname: Halbritter
– volume: 14
  start-page: 2004
  year: 2003
  ident: 10.1016/j.ekir.2019.08.012_bib4
  article-title: Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations
  publication-title: J Am Soc Nephrol
  doi: 10.1097/01.ASN.0000078805.87038.05
  contributor:
    fullname: Furu
– volume: 140
  start-page: 510
  year: 2004
  ident: 10.1016/j.ekir.2019.08.012_bib9
  article-title: Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations
  publication-title: Ann Intern Med
  doi: 10.7326/0003-4819-140-7-200404060-00009
  contributor:
    fullname: Bellanne-Chantelot
– volume: 70
  start-page: 1305
  year: 2002
  ident: 10.1016/j.ekir.2019.08.012_bib3
  article-title: PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats
  publication-title: Am J Hum Genet
  doi: 10.1086/340448
  contributor:
    fullname: Onuchic
– volume: 42
  start-page: 840
  year: 2010
  ident: 10.1016/j.ekir.2019.08.012_bib6
  article-title: Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
  publication-title: Nat Genet
  doi: 10.1038/ng.662
  contributor:
    fullname: Otto
– volume: 43
  start-page: 84
  year: 2006
  ident: 10.1016/j.ekir.2019.08.012_bib7
  article-title: Mutations in hepatocyte nuclear factor-1beta and their related phenotypes
  publication-title: J Med Genet
  doi: 10.1136/jmg.2005.032854
  contributor:
    fullname: Edghill
– volume: 17
  start-page: 149
  year: 1997
  ident: 10.1016/j.ekir.2019.08.012_bib8
  article-title: A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1
  publication-title: Nat Genet
  doi: 10.1038/ng1097-149
  contributor:
    fullname: Hildebrandt
– volume: 23
  start-page: 915
  year: 2012
  ident: 10.1016/j.ekir.2019.08.012_bib1
  article-title: Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing
  publication-title: J Am Soc Nephrol
  doi: 10.1681/ASN.2011101032
  contributor:
    fullname: Rossetti
– volume: 30
  start-page: 259
  year: 2002
  ident: 10.1016/j.ekir.2019.08.012_bib5
  article-title: The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein
  publication-title: Nat Genet
  doi: 10.1038/ng833
  contributor:
    fullname: Ward
SSID ssj0001765908
Score 2.1830206
SourceID pubmedcentral
proquest
crossref
pubmed
elsevier
SourceType Open Access Repository
Aggregation Database
Index Database
Publisher
StartPage 1751
SubjectTerms Research Letter
Title Molecular Genetic Diagnosis of Omani Patients With Inherited Cystic Kidney Disease
URI https://dx.doi.org/10.1016/j.ekir.2019.08.012
https://www.ncbi.nlm.nih.gov/pubmed/31844813
https://search.proquest.com/docview/2327938231
https://pubmed.ncbi.nlm.nih.gov/PMC6895654
Volume 4
hasFullText 1
inHoldings 1
isFullTextHit
isPrint
link http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1Nb9QwEB31Q0JcEC2FLtCVkbhV6SaOndhHtLRqQdtWVStWXKy1Y6sBmq3Y7aH_npk4qfohOHCOLVkzI8-bzPMbgI9pEIhibZFo5bBAUYVMbKZ9EnTpVZpXVIMQ2-K4OLwQX6ZyugKyfwvTkvadrfeaX1d7TX3Zciuvr9yo54mNTifjQiGql2K0CqsYoPdK9PbHSlnQHO_ugUzkcvmfNWl_ZrqV68xohA3GMlYmWf63fPQUbz6mTd7LQwcv4UUHINmneNANWPHNJjybdC3yV3A26QfeMpKUxlXsc6TT1Qs2D-yEBC_YaZRTXbBv9fKSHTX0ChCxJxvfkm4z-1pXjb_FjW33ZgsuDvbPx4dJNzghcULKZVKmlnMtRO6zXBUWQaASOg1VlTqsO32llfKcW0xEhZZW-KoMehbK4LIyeKuq_DWsNfPGbwPTQVvHeZAlCe3xmeXSZVFVJjiViwHs9uYz11Efw_TEsR-G7G7I7oZmXWZ8ALK3sOkyfMzcBi_wf-770LvDYPhTT2PW-PnNwiAgxBuGepkDeBPdc3eO3sUDKB847m4BSWs__IIR10psdxH29r93voPndP5IfHkPa8vfN34H4cvSDtuyfwjrx-PpyfdhG7x_AG8F8hA
link.rule.ids 230,315,730,783,787,867,888,27936,27937,53804,53806
linkProvider National Library of Medicine
linkToHtml http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1Nb9QwEB2VIgEXyneXFjASN5TdxLET-4i2VFvaLRVqoTdr7dhqaJut2Oyh_HrGcVy1RSDBObYU69mZN5nnNwDvUseQxeoikcJggiIKnuhM2sTJ0oo0r3wO4tUW-8XkiH065scrwONdmE60b3Q9bM7Oh0190mkrL87NKOrERgfTcSGQ1XM2ugN38bym7FqS3v1aKQvfybu_IhPUXPa09u6fmewMOzPfxAZ3M-YmWf6niPQ747wtnLwWibbX4GtcQxCgnA6XrR6an7fsHf95kY_gYc9NyYfw-DGs2OYJ3Jv21fen8GUae-kS71aNo8hWUOrVCzJ35LP30iAHwal1Qb7V7QnZafwFQ6S1ZHzpLaHJbl019hIndoWhZ3C0_fFwPEn6ngyJYZy3SZlqSiVjuc1yUWjkl4LJ1FVVajCltZUUwlKqMcYVkmtmq9LJmSudyUpntajy57DazBu7DkQ6qQ2ljpfew4_ONOUmC4Y1zoicDeB9xEVdBOsNFTVp35UHVHlAlW-jmdEB8Aid6slDIAUKY8Nf572NOCs8Wb5cMmvsfLlQyDXx4-XLpAN4EXC_eo-4dwZQ3tgRVwO8a_fNJ4hz597d4_ryv2e-gfuTw-me2tvZ392AB34tQV-zCavtj6V9hSyp1a-7M_ELBy4Rdg
linkToPdf http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1NT9wwEB1RkFAvbenn9tNIvVXZTRw7sY9o6QpKF1ZVUVEv1tqxRQpkV2z2QH894zhBC1U5cI4txXp25k3m-Q3A59gxZLE6i6QwmKCIjEc6kTZyMrciTgufg3i1xWG2d8y-nfCTlVZfjWjf6LJfnV_0q_K00VbOL8yg04kNJuNhJpDVczaYF27wCDbwzMbZSqLe_F7JM9_Nu70mExRd9qz0DqCJbEw7E9_IBnc05idJ-r-o9C_rvCueXIlGo6fwu1tHEKGc9Ze17pu_dyweH7TQZ_Ck5ahkJwzZgjVbPYfNcVuFfwE_xl1PXeJdq3EU2Q2KvXJBZo4ceU8NMgmOrQvyq6xPyX7lLxoivSXDK28NTQ7KorJXOLEpEL2E49HXn8O9qO3NEBnGeR3lsaZUMpbaJBWZRp4pmIxdUcQGU1tbSCEspRpjXSa5ZrbInZy63Jkkd1aLIn0F69Wssm-ASCe1odTx3Hv50amm3CTBuMYZkbIefOmwUfNgwaE6bdof5UFVHlTl22kmtAe8g0-1JCKQA4Ux4t552x3WCk-YL5tMKztbLhRyTvyI-XJpD14H7G_eo9s_Pchv7YqbAd69-_YTxLpx8W6xffvgmZ9gc7I7Ut_3Dw_ewWO_lCCzeQ_r9eXSfkCyVOuPzbG4BppaE_Y
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=Molecular+Genetic+Diagnosis+of+Omani+Patients+With+Inherited+Cystic+Kidney+Disease&rft.jtitle=Kidney+international+reports&rft.au=Al+Alawi%2C+Intisar&rft.au=Al+Salmi%2C+Issa&rft.au=Al+Rahbi%2C+Fatma&rft.au=Al+Riyami%2C+Mohamed&rft.date=2019-12-01&rft.issn=2468-0249&rft.eissn=2468-0249&rft.volume=4&rft.issue=12&rft.spage=1751&rft.epage=1759&rft_id=info:doi/10.1016%2Fj.ekir.2019.08.012&rft.externalDBID=n%2Fa&rft.externalDocID=10_1016_j_ekir_2019_08_012
thumbnail_l http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=2468-0249&client=summon
thumbnail_m http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=2468-0249&client=summon
thumbnail_s http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=2468-0249&client=summon