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Antioxidants (Basel, Switzerland)|April 28, 2023
Mitochondrial ROS Triggers KIN Pathogenesis in FAN1-Deficient KidneysMerlin Airik, Haley Arbore, Elizabeth Childs, et al.Journal of the American Society of Nephrology : JASN|April 12, 2014
Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signalingRannar Airik, Gisela G Slaats, Zhi Guo, et al.Cell Reports|July 23, 2023
Premature aging and reduced cancer incidence associated with near-complete body-wide Myc inactivationHuabo Wang, Jie Lu, Taylor Stevens, et al.Journal of Medical Genetics|November 12, 2010
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategyEdgar A Otto, Gokul Ramaswami, Sabine Janssen, 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.Science Translational Medicine|February 28, 2024
Endothelial cells drive organ fibrosis in mice by inducing expression of the transcription factor SOX9Felix A Trogisch, Aya Abouissa, Merve Keles, et al.American Journal of Human Genetics|January 6, 2015
DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signalingMarkus Schueler, Daniela A Braun, Gayathri Chandrasekar, et al.Nature Genetics|July 10, 2012
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repairWeibin Zhou, Edgar A Otto, Andrew Cluckey, et al.Kidney International|November 22, 2013
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathiesHeon Yung Gee, Edgar A Otto, Toby W Hurd, et al.The Journal of Clinical Investigation|November 26, 2013
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruptionShazia Ashraf, Heon Yung Gee, Stephanie Woerner, et al.Pageof 5