Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.
Verena Klämbt,Florian Buerger,Chunyan Wang,Thomas Naert,Karin Richter,Theresa Nauth,Anna-Carina Weiss,Tobias Sieckmann,Ethan Lai,Dervla M Connaughton,Steve Seltzsam,Nina Mann,Amar J Majmundar,Chen-Han W Wu,Ana C Onuchic-Whitford,Shirlee Shril,Sophia Schneider,Luca Schierbaum,Rufeng Dai,Mir Reza Bekheirnia,Marieke Joosten,Omer Shlomovitz,Asaf Vivante,Ehud Banne,Shrikant Mane,Richard P Lifton,Karin M Kirschner,Andreas Kispert,Georg Rosenberger,Klaus-Dieter Fischer,Soeren S Lienkamp,Mirjam M P Zegers,Friedhelm Hildebrandt Journal of the American Society of Nephrology : JASN（2023）
摘要
Deleterious variants in ARHGEF6 may cause dysregulation of integrin-parvin-RAC1/CDC42 signaling, thereby leading to X-linked CAKUT.
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CAKUT,monogenic kidney disease,development,pediatric
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