Results 151 to 160 of about 2,467 (196)

PRPF8 Mutation-Induced Defects in Human iPSC-Derived RPE Are Rescued by Adenine Base Editing. [PDF]

Invest Ophthalmol Vis Sci
Sun X, Liang Y, Liang Y, Li W, Chen H, Ding C, Duan C, Zhou Y, Zhang R, Xu H, Chen J.   +10 more
europepmc   +1 more source

In Silico Analysis: Molecular Characterization and Evolutionary Study of CLCN Gene Family in Buffalo. [PDF]

Genes (Basel)
Fu Y, Khan MF, Wang Y, Parveen S, Sultana M, Liu Q, Shafique L.   +6 more
europepmc   +1 more source

Phenotypes and the Importance of Genetic Analysis in Adult Patients with Nephrolithiasis and/or Nephrocalcinosis: A Single-Center Experience. [PDF]

Genes (Basel)
Rusu EE, Sorohan BM, Pandele R, Popescu A, Bobeica R, Balanica S, Zilisteanu DS, Iordache A, Lungu A, Ismail G.   +9 more
europepmc   +1 more source

Modeling Dent Disease Type 1 in Flies. [PDF]

Kidney360
Anglani F, Priante G.
europepmc   +1 more source

The transcription factor HNF1 alpha regulates expression of chloride-proton exchanger ClC-5 in the renal proximal tubule. [PDF]

, 2010
Devuyst, O., Garbay, S., Geffers, L., Pontoglio, M., Tanaka, K., Terryn, S.   +5 more
core  

A Focus on the Proximal Tubule Dysfunction in Dent Disease Type 1. [PDF]

Genes (Basel)
de Combiens E, Sakhi IB, Lourdel S.
europepmc   +1 more source

A Drosophila model for Dent’s disease reveals impaired ER export of Cubilin as pathogenic mechanism

Christer S, Marelja Z, Hauschild H, Berquez M, Dibra I, Gandhi H, Shih Y, Helmstädter M, Devuyst O, Simons M.   +9 more
europepmc   +1 more source

Genetic and Clinical Characterization of a Large Cohort with Suspected Monogenic Stone Disease. [PDF]

Clin J Am Soc Nephrol
Cogal AG, Ali AE, Arnous MG, Alhadi A, Zhou LT, Arroyo J, Seide BM, Rossler KJ, Reynolds LM, Kennedy GN, Elbarougy DE, Goldfarb DS, Milliner DS, Sas DJ, Lieske JC, Harris PC, Investigators of the Rare Kidney Stone Consortium.   +16 more
europepmc   +1 more source

miR-153 promotes neural differentiation by activating the cell adhesion/Ca²⁺ signaling pathway and targeting ion channel activity in HT-22 cells by bioinformatic analysis. [PDF]

Heliyon
Jiao L, Junfang Z, Yanna L, Caixia J, Chen Z, Song J, Jie X, Xiaoli Y, Xin G, Libo X, Feng W, Lixia L, Chunli X, Lei X.   +13 more
europepmc   +1 more source

Elevating microRNA levels by targeting biogenesis with steric-blocking antisense oligonucleotides. [PDF]

RNA
Havens MA, Hinrich AJ, Rigo F, Hastings ML.   +3 more
europepmc   +1 more source