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Nature Genetics|January 19, 2010
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisisCarrie M Louie, Gianluca Caridi, Vanda S Lopes, et al.Plos Genetics|January 24, 2009
A systematic approach to mapping recessive disease genes in individuals from outbred populationsFriedhelm Hildebrandt, Saskia F Heeringa, Franz Rüschendorf, et al.Nature Reviews. Nephrology|September 17, 2020
Modelling kidney disease using ontology: insights from the Kidney Precision Medicine ProjectEdison Ong, Lucy L Wang, Jennifer Schaub, et al.Nature Genetics|February 22, 2005
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulinEdgar A Otto, Bart Loeys, Hemant Khanna, et al.Diabetes Care|April 4, 2022
Urinary Proteomics Identifies Cathepsin D as a Biomarker of Rapid eGFR Decline in Type 1 DiabetesChristine P Limonte, Erkka Valo, Viktor Drel, et al.Cell|May 14, 2011
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathwaysLiyun Sang, Julie J Miller, Kevin C Corbit, et al.Nature Genetics|May 10, 2006
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4John A Sayer, Edgar A Otto, John F O'Toole, et al.Kidney International|November 22, 2013
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathiesHeon Yung Gee, Edgar A Otto, Toby W Hurd, et al.Nature Genetics|November 7, 2006
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversibleBernward Hinkes, Roger C Wiggins, Rasheed Gbadegesin, et al.Medrxiv : the Preprint Server for Health Sciences|March 13, 2026
Shared multicellular injury programs of acute and chronic kidney disease enable mechanistic patient stratificationRobin Fallegger, Sergio A Gomez-Ochoa, Charlotte Boys, et al.Pageof 13