Results 151 to 160 of about 1,497 (161)

Bioinformatics analysis of a CLCN5 geneframeshift mutation in a patient with Dent disease.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences
Dent disease is a rare X-linked recessive inherited renal tubular disorder characterized by low molecular weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis, and other clinical features, and can lead to progressive renal failure. It is primarily caused by mutations in the CLCN5 gene.
Yingying, Zhang, Nannan, Li, Liangliang, Fan, Jishi, Liu   +3 more
openaire   +1 more source

Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease

Biomedicines, 2023
Ana Perdomo-Ramirez, Elena Ramos Trujillo, Felix Claverie-Martin   +2 more
exaly  

Chloride channel CLCN5 mutations in Japanese children with familial idiopathic low molecular weight proteinuria

Kidney International, 1999
Hitoshi Nakazato, F Endo
exaly  

Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets

Clinical Endocrinology, 2017
Namik Kaya, Brian Meyer, Ayla Güven
exaly  

Heterogeneity in the processing of CLCN5 mutants related to Dent disease

Human Mutation, 2011
Kamel Laghmani, Stéphane Lourdel, Mathieu Genete   +2 more
exaly  

Prevalence of low molecular weight proteinuria and Dent disease 1 CLCN5 mutations in proteinuric cohorts

Pediatric Nephrology, 2019
Howard Trachtman, Lada Beara Lasic, John Lieske   +2 more
exaly  

De novo insertion of an Alu sequence in the coding region of the CLCN5 gene results in Dent's disease

Human Genetics, 2003
CARLOS Flores, Montserrat Antón-Gamero, Felix Claverie-Martin   +2 more
exaly  

A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent’s disease

Journal of Human Genetics, 2007
CARLOS Flores, Laura Espinosa, Elena Ramos Trujillo   +2 more
exaly  

Severe Osteomalacia with Dent Disease Caused by a Novel Intronic Mutation of the <i>CLCN5</i> gene

Internal Medicine, 2018
Isao Matsui, Nobuhiro Hashimoto, Takayuki Hamano   +2 more
exaly  

Identification of a novel splice site mutation of CLCN5 gene and characterization of a new alternative 5’ UTR end of ClC-5 mRNA in human renal tissue and leukocytes

Journal of Human Genetics, 2004
Giovanni Gambaro, Franca Anglani, Enrica Tosetto   +2 more
exaly