Many Genes—One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders-Reference-Cited by-同舟云学术

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Many Genes—One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders

Published:2018-01-05 Issue: Volume:5 Page:
ISSN:2296-2360
Container-title:Frontiers in Pediatrics
language:
Short-container-title:Front. Pediatr.

Author:

Srivastava Shalabh,Molinari Elisa,Raman Shreya,Sayer John A.

Funder

Kidney Research UK

Kids Kidney Research

Northern Counties Kidney Research Fund

Publisher

Frontiers Media SA

Subject

Pediatrics, Perinatology and Child Health

Reference162 articles.

1. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome;Delous;Nat Genet,2007

2. Nephronophthisis: disease mechanisms of a ciliopathy;Hildebrandt;J Am Soc Nephrol,2009

3. Nephronophthisis;Simms;Eur J Hum Genet,2008

4. Urinary concentration defects and mechanisms underlying nephronophthisis;Krishnan;Kidney Blood Press Res,2008

5. Molecular genetic identification of families with juvenile nephronophthisis type 1: rate of progression to renal failure. APN Study Group. Arbeitsgemeinschaft fur Padiatrische Nephrologie;Hildebrandt;Kidney Int,1997

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1. Next generation sequencing identifies WNT signalling as a significant pathway in Autosomal Recessive Polycystic Kidney Disease (ARPKD) manifestation and may be linked to disease severity;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2024-10

2. Immunofluorescence analyses of respiratory epithelial cells aid the diagnosis of nephronophthisis;Pediatric Nephrology;2024-08-05

3. Identification of a Novel Deletion Variant (c.2999_3005delTGTGTGT/p.Asn1000SerfsTer4) in NPHP4 Associated With Nephronophthisis‐4;Journal of Clinical Laboratory Analysis;2024-06

4. Ultrastructure expansion microscopy (U‐ExM) of mouse and human kidneys for analysis of subcellular structures;Cytoskeleton;2024-05-07

5. The ANKS3/BICC1 protein complex is a master post-transcriptional regulator ofNPHP1ciliopathy-gene transcripts;2024-04-22

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