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Clinical Epigenetics|June 16, 2025
Epigenetic silencing and CRISPR-mediated reactivation of tight junction protein claudin10b (CLDN10B) in renal cancerSarah Arroyo Villora, Yufen Zhao, Paula Castellanos Silva, et al.Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 20, 2025
The impact of the new WHO Classification of renal cell carcinoma on the diagnosis of hereditary leiomyomatosis and renal cell carcinomaJan Degenhardt, Yuri Tolkach, Mahul B Amin, et al.Clinical Genetics|October 23, 2022
Biallelic variants in CEP164 cause a motile ciliopathy-like syndromeLaura A Devlin, Janice Coles, Claire L Jackson, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2017
Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndromeSmail Hadj-Rabia, Gaelle Brideau, Yasser Al-Sarraj, et al.Journal of the American Society of Nephrology : JASN|January 15, 2022
Claudin-10a Deficiency Shifts Proximal Tubular Cl- Permeability to Cation Selectivity via Claudin-2 RedistributionTilman Breiderhoff, Nina Himmerkus, Luca Meoli, et al.The Journal of Cell Biology|April 15, 2015
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zoneElle C Roberson, William E Dowdle, Aysegul Ozanturk, et al.Human Mutation|July 2, 2021
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several familiesEric Olinger, Intisar Al Alawi, Mohammed S Al Riyami, et al.Kidney International|October 22, 2015
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicityDaniela A Braun, Markus Schueler, Jan Halbritter, et al.Journal of the American Society of Nephrology : JASN|October 29, 2014
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndromeCarolin E Sadowski, Svjetlana Lovric, Shazia Ashraf, et al.American Journal of Human Genetics|June 3, 2014
Mutations of CEP83 cause infantile nephronophthisis and intellectual disabilityMarion Failler, Heon Yung Gee, Pauline Krug, et al.Pageof 17