Results 121 to 130 of about 1,497 (161)

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

Modeling Dent Disease Type 1 in Flies. [PDF]

Kidney360
Anglani F, Priante G.
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

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

The Apical Endocytic-Lysosomal Apparatus in CLCN5 Mutations with Phenotypic-Genotypic Correlations in Three Cases. [PDF]

Int J Mol Sci
Kalmár T, Jakab D, Maróti Z, Lakatos O, Vas T, Bereczki C, Iványi B.   +6 more
europepmc   +1 more source

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 female patient with Dent disease due to skewed X-chromosome inactivation. [PDF]

Clin Kidney J
D'Ambrosio V, Wan ER, Siew K, Hayes W, Walsh SB.   +4 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

Mutations in the chloride channel gene (CLCN5) are associated with hypercalciuric rickets and nephrolithiasis.

, 2016
Lloyd, SE, Pearce, S, Thomson, A, Bianchi, M, Craig, I, Fisher, S, Scheinman, S, Wrong, O, Thakker, R   +8 more
openaire   +1 more source