Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis-Reference-Cited by-同舟云学术

Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis

Published:2017-09-17 Issue:10 Volume:22 Page:818-820
ISSN:1320-5358
Container-title:Nephrology
language:en
Short-container-title:Nephrology

Author:

Abdullah Uzma¹,Farooq Muhammad²³,Fatima Ambrin¹,Tauseef Wasima⁴,Sarwar Yasra¹,Nuri Mmh⁵,Tommerup Niels³,Baig Shahid M.¹^ORCID

Affiliation:

1. Human Molecular Genetics Laboratory, Health Biotechnology Division; National Institute for Biotechnology and Genetic Engineering (NIBGE), PIEAS; Faisalabad Pakistan

2. Department of Bioinformatics and Biotechnology; Government College University; Faisalabad Pakistan

3. Wilhelm Johannsen Centre for Functional Genome Research; University of Copenhagen; Denmark

4. Fazl-e-Omar Hospital; Pakistan

5. Tahir Heart Institute; Pakistan

Publisher

Wiley

Subject

Nephrology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/nep.13097/fullpdf

Reference11 articles.

1. Exploring the genetic basis of early-onset chronic kidney disease;Vivante;Nat. Rev. Nephrol.,2016

2. Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: a multicenter study;Chaumoitre;Ultrasound Obstet. Gynecol.,2006

3. Identification of a Gene for Renal-Hepatic-Pancreatic Dysplasia by Microarray-Based Homozygosity Mapping

4. Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity;Braun;Kidney Int.,2015

5. Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3;Simpson;Am. J. Kidney Dis.,2009

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1. Identification of a Splicing Variant c.3813-3A>G in NPHP3 by Reanalysis of Whole Exome Sequencing in a Chinese Boy with Nephronophthisis;Nephron;2023

2. NPHP3 splice acceptor site variant is associated with infantile nephronophthisis and asphyxiating thoracic dystrophy; A rare combination;European Journal of Medical Genetics;2022-10

3. A prognostic risk model based on DNA methylation levels of genes and lncRNAs in lung squamous cell carcinoma;PeerJ;2022-03-24

4. First reported case of fragile foal syndrome type 1 in the Thoroughbred caused by PLOD1 c.2032G>A;Equine Veterinary Journal;2022-02