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Diagnostics (Basel, Switzerland)|May 21, 2020
Performance of Radiomics Features in the Quantification of Idiopathic Pulmonary Fibrosis from HRCTAlessandro Stefano, Mauro Gioè, Giorgio Russo, et al.
Kidney International|October 9, 2003
Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domainsMatthias T F Wolf, Bettina E Mucha, Massimo Attanasio, et al.
Journal of the American Society of Nephrology : JASN|March 11, 2014
Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRDEkim Z Taskiran, Emine Korkmaz, Safak Gucer, et al.
The American Journal of Pathology|November 3, 2019
Innate Immune Signaling Contributes to Tubular Cell Senescence in the Glis2 Knockout Mouse Model of NephronophthisisHeng Jin, Yan Zhang, Dingxiao Liu, et al.
JCI Insight|January 25, 2019
Epithelial innate immunity mediates tubular cell senescence after kidney injuryHeng Jin, Yan Zhang, Qiong Ding, et al.
Nature Genetics|July 10, 2007
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosisMassimo Attanasio, N Henriette Uhlenhaut, Vitor H Sousa, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|March 3, 2005
Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkageMatthias T F Wolf, Isabella Zalewski, Félix Claverie Martin, et al.
Human Molecular Genetics|February 23, 2010
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expressionFrank Zaucke, Joana M Boehnlein, Sarah Steffens, et al.
Clinical Genetics|December 29, 2021
A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndromeNur Canpolat, Dingxiao Liu, Emine Atayar, et al.
Human Molecular Genetics|April 25, 2006
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouseBo Chang, Hemant Khanna, Norman Hawes, et al.
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