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American Journal of Human Genetics|March 29, 2008
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasiaCarsten Bergmann, Manfred Fliegauf, Nadina Ortiz Brüchle, 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.Nature Genetics|January 19, 2010
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisisCarrie M Louie, Gianluca Caridi, Vanda S Lopes, et al.Biorxiv : the Preprint Server for Biology|August 8, 2025
CAKUT variants in <i>PRPF8, DYRK2</i>, and <i>CEP78</i>: implications for splicing and ciliogenesisLea M Merz, Shirlee Shril, Tucker J Carrocci, et al.Stem Cell Research|October 4, 2021
Generation of hiPSC-derived low threshold mechanoreceptors containing axonal termini resembling bulbous sensory nerve endings and expressing Piezo1 and Piezo2Shuyong Zhu, Nancy Stanslowsky, Jorge Fernández-Trillo, et al.Nature Genetics|February 22, 2005
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulinEdgar A Otto, Bart Loeys, Hemant Khanna, et al.Journal of the American Society of Nephrology : JASN|April 7, 2017
A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations <i>via</i> Dysregulation of Retinoic Acid SignalingAsaf Vivante, Nina Mann, Hagith Yonath, 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|August 4, 2015
Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter DevelopmentAsaf Vivante, Marc-Jens Kleppa, Julian Schulz, et al.Nature Genetics|December 7, 2010
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogsAnne-Christine Merveille, Erica E Davis, Anita Becker-Heck, et al.Pageof 16