Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease-Reference-Cited by-同舟云学术

Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease

Published:2023-11 Issue:5 Volume:104 Page:995-1007
ISSN:0085-2538
Container-title:Kidney International
language:en
Short-container-title:Kidney International

Author:

Claus Laura R.,Chen Chuan,Stallworth Jennifer,Turner Joshua L.,Slaats Gisela G.,Hawks Alexandra L.,Mabillard Holly,Senum Sarah R.^ORCID,Srikanth Sujata,Flanagan-Steet Heather,Louie Raymond J.,Silver Josh,Lerner-Ellis Jordan,Morel Chantal,Mighton Chloe,Sleutels Frank,van Slegtenhorst Marjon,van Ham Tjakko,Brooks Alice S.,Dorresteijn Eiske M.,Barakat Tahsin Stefan,Dahan Karin,Demoulin Nathalie^ORCID,Goffin Eric Jean^ORCID,Olinger Eric,Larsen Martin,Hertz Jens Michael,Lilien Marc R.,Obeidová Lena,Seeman Tomas,Stone Hillarey K.,Kerecuk Larissa,Gurgu Mihai,Yousef Yengej Fjodor A.,Ammerlaan Carola M.E.,Rookmaaker Maarten B.,Hanna Christian^ORCID,Rogers R. Curtis,Duran Karen,Peters Edith,Sayer John A.^ORCID,van Haaften Gijs,Harris Peter C.^ORCID,Ling Kun,Mason Jennifer M.,van Eerde Albertien M.,Steet Richard,Ambrose John C.,Arumugam Prabhu,Bevers Roel,Bleda Marta,Boardman-Pretty Freya,Boustred Christopher R.,Brittain Helen,Caulfield Mark J.,Chan Georgia C.,Elgar Greg,Fowler Tom,Giess Adam,Hamblin Angela,Henderson Shirley,Hubbard Tim J.P.,Jackson Rob,Jones Louise J.,Kasperaviciute Dalia,Kayikci Melis,Kousathanas Athanasios,Lahnstein Lea,Leigh Sarah E.A.,Leong Ivonne U.S.,Lopez Javier F.,Maleady-Crowe Fiona,McEntagart Meriel,Minneci Federico,Moutsianas Loukas,Mueller Michael,Murugaesu Nirupa,Need Anna C.,O’Donovan Peter,Odhams Chris A.,Patch Christine,Pereira Mariana Buongermino,Perez-Gil Daniel,Pullinger John,Rahim Tahrima,Rendon Augusto,Rogers Tim,Savage Kevin,Sawant Kushmita,Scott Richard H.,Siddiq Afshan,Sieghart Alexander,Smith Samuel C.,Sosinsky Alona,Stuckey Alexander,Tanguy Mélanie,Taylor Tavares Ana Lisa,Thomas Ellen R.A.,Thompson Simon R.,Tucci Arianna,Welland Matthew J.,Williams Eleanor,Witkowska Katarzyna,Wood Suzanne M.

Publisher

Elsevier BV

Subject

Nephrology

Reference47 articles.

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5. Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype;Senum;Am J Hum Genet,2022

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