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Journal of the American Society of Nephrology : JASN|April 7, 2017
A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid SignalingAsaf Vivante, Nina Mann, Hagith Yonath, et al.Kidney International Reports|February 22, 2021
Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic SyndromeYouying Mao, Ronen Schneider, Peter F M van der Ven, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2021
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic featuresDiane D Shao, Rachel Straussberg, Hind Ahmed, et al.Journal of the American Society of Nephrology : JASN|November 22, 2022
Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and FrogsVerena Klämbt, Florian Buerger, Chunyan Wang, et al.American Journal of Human Genetics|November 24, 2020
DAAM2 Variants Cause Nephrotic Syndrome via Actin DysregulationRonen Schneider, Konstantin Deutsch, Gregory J Hoeprich, et al.American Journal of Human Genetics|November 12, 2019
CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor MutationsNina Mann, Franziska Kause, Erik K Henze, et al.Kidney International|March 1, 2022
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tractJohannes Münch, Marie Engesser, Ria Schönauer, et al.Pediatric Nephrology (Berlin, Germany)|January 23, 2026
Identification of monogenic variants in steroid-resistant and steroid-sensitive nephrotic syndromeBshara Mansour, Katharina Lemberg, Ronen Schneider, et al.The Journal of Clinical Investigation|October 24, 2017
Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndromeJia Rao, Shazia Ashraf, Weizhen Tan, et al.Science Advances|February 1, 2021
Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and miceAmar J Majmundar, Florian Buerger, Thomas A Forbes, et al.Pageof 10