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Human Mutation|July 13, 2019
The novel p.Ser263Phe mutation in the human high-affinity choline transporter 1 (CHT1/SLC5A7) causes a lethal form of fetal akinesia syndromeMayukh Banerjee, Denis Arutyunov, Daniel Brandwein, et al.Disease Models & Mechanisms|April 28, 2025
Urinary sodium wasting and disrupted collecting duct function in mice with distal renal tubular acidosis mutationsPriyanka Mungara, Kristina MacNaughton, A K M Shahid Ullah, et al.Elife|March 4, 2026
SLC4A1 mutations that cause distal renal tubular acidosis alter cytoplasmic pH and cellular autophagyGrace Essuman, Midhat Rizvi, Ensaf Almomani, et al.Human Mutation|February 24, 2017
A variant in a cis-regulatory element enhances claudin-14 expression and is associated with pediatric-onset hypercalciuria and kidney stonesMegan E Ure, Emma Heydari, Wanling Pan, et al.Scientific Reports|October 3, 2020
Characterization of five novel vasopressin V2 receptor mutants causing nephrogenic diabetes insipidus reveals a role of tolvaptan for M272R-V2R mutationFederica Prosperi, Yoko Suzumoto, Pierluigi Marzuillo, et al.Journal of the American Society of Nephrology : JASN|February 4, 2016
Far Upstream Element-Binding Protein 1 Binds the 3' Untranslated Region of PKD2 and Suppresses Its TranslationWang Zheng, Fan Shen, Ruikun Hu, et al.Biochemical Pharmacology|July 12, 2020
Human red blood cell uptake and sequestration of arsenite and selenite: Evidence of seleno-bis(S-glutathionyl) arsinium ion formation in human cellsGurnit Kaur, Warda Javed, Olena Ponomarenko, et al.Journal of the American Society of Nephrology : JASN|December 10, 2016
Intercalated Cell Depletion and Vacuolar H+-ATPase Mistargeting in an Ae1 R607H Knockin ModelRizwan Mumtaz, Francesco Trepiccione, J Christopher Hennings, et al.Pageof 5