Article
Contribution of the TTC21B gene to glomerular and cystic kidney diseases.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Jan 2017
Bullich Gemma, Vargas Iván, Trujillano Daniel, Mendizábal Santiago, Piñero-Fernández Juan Alberto, Fraga Gloria, García-Solano José, Ballarín José, Estivill Xavier, Torra Roser, Ars Elisabet
Abstract excerpt
Background: The TTC21B gene was initially described as causative of nephronophthisis (NPHP). Recently, the homozygous TTC21B p.P209L mutation has been identified in families with focal segmental glomerulosclerosis (FSGS) and tubulointerstitial lesions. Heterozygous TTC21B variants have been proposed as genetic modifiers in ciliopathies. We aimed to study the causative and modifying role of the TTC21B gene in...
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