Monoallelic Loss-of-Function IFT140 Pathogenic Variants Cause Autosomal Dominant Polycystic Kidney Disease: A Confirmatory Study With Suspicion of an Additional Cardiac Phenotype-Reference-Cited by-同舟云学术

Monoallelic Loss-of-Function IFT140 Pathogenic Variants Cause Autosomal Dominant Polycystic Kidney Disease: A Confirmatory Study With Suspicion of an Additional Cardiac Phenotype

Published:2023-10 Issue: Volume: Page:
ISSN:0272-6386
Container-title:American Journal of Kidney Diseases
language:en
Short-container-title:American Journal of Kidney Diseases

Author:

Salhi Sofiane^ORCID,Doreille Alice,Dancer Marine Serveaux,Boueilh Anna,Filipozzi Pierre,El Karoui Khalil,Ponce Fanny,Lebre Anne-Sophie,Raymond Laure,Mesnard Laurent^ORCID

Publisher

Elsevier BV

Subject

Nephrology

Reference10 articles.

1. Autosomal dominant polycystic kidney disease: the changing face of clinical management;Ong;Lancet,2015

2. Genetic complexity of autosomal dominant polycystic kidney and liver diseases;Cornec-Le Gall;J Am Soc Nephrol,2018

3. Mutations in GANAB, encoding the glucosidase IIα subunit, cause autosomal-dominant polycystic kidney and liver disease;Porath;Am J Hum Genet,2016

4. Monoallelic mutations to DNAJB11 cause atypical autosomal-dominant polycystic kidney disease;Cornec-Le Gall;Am J Hum Genet,2018

5. Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis;Lemoine;Am J Hum Genet,2022

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Sporadic ADPKD-IFT140: Absence of Family History as an Indicator of Clinical Mildness;Kidney International Reports;2024-09

2. The First Pediatric Case of an IFT140 Heterozygous Deletion Causing Autosomal Dominant Polycystic Kidney Disease: Case Report;Case Reports in Nephrology and Dialysis;2024-07-01

3. Monoallelic pathogenic IFT140 variants are a common cause of autosomal dominant polycystic kidney disease–spectrum phenotype;Clinical Kidney Journal;2024-02-01