Results 161 to 170 of about 2,184 (189)

Molecular analysis of the CLCN5 gene in Dent’s disease: first mutation identified in a patient from South America

Clinical Nephrology, 2007
Dent's disease is a rare renal tubular disorder characterized by low-molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets and eventual renal failure. The selective loss of low-molecular weight proteins points to a defect of the proximal tubule, where filtered proteins are normally reabsorbed by endocytosis.
E, Ramos-Trujillo, V, Garcia-Nieto, H, Gonzalez-Acosta, J, Vara, V, Pérez-Diaz, I, Nadal, R, Oliveros, F, Claverie-Martin   +7 more
openaire   +2 more sources

Identification of a novel mutation in the CLCN5 gene in a Chinese family with Dent‐1 disease

Nephrology, 2014
AbstractDent disease comprises a group of X‐linked recessive inherited renal tubular disorders, the symptoms of which include low‐molecular‐weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis, and progressive renal failure. We sought to characterize the clinical manifestations and to identify the mutations associated with this disease in ...
Hao, Zhang, Chun, Wang, Hua, Yue, Wei-Wei, Hu, Jie-Mei, Gu, Jin-Wei, He, Wen-Zhen, Fu, Yu-Juan, Liu, Zeng, Zhang, Zhen-Lin, Zhang   +9 more
openaire   +2 more sources

Identification of Two Novel Mutations in the CLCN5 Gene in Japanese Patients With Familial Idiopathic Low Molecular Weight Proteinuria (Japanese Dent's Disease)

American Journal of Kidney Diseases, 2001
Two Japanese patients, belonging to unrelated families, with idiopathic low-molecular-weight proteinuria (LMWP; Japanese Dent's disease) showed novel mutations of the gene encoding renal-specific chloride channel 5 (CLC-5). Proteinuria was first noticed at the ages of 2 and 3 years in patients 1 and 2, respectively.
T, Takemura, S, Hino, M, Ikeda, M, Okada, T, Igarashi, J, Inatomi, K, Yoshioka   +6 more
openaire   +2 more sources

Mutational analysis of the PHEX, FGF23, DMP1, SLC34A3, and CLCN5 genes in patients with Hypophosphatemic Rickets

2011
The aim of this study was to identify the underlying genetic mutation in patients with hypophosphatemic rickets (HR). The HR patients studied were recruited from a cross-sectional study of 59 HR patients living in Denmark. Genomic DNA was analysed for mutations in PHEX, FGF23, DMP1, SCL34A3 and CLCN5 by polymerase chain reaction (PCR) followed by ...
Beck-Nielsen, Signe, Brixen, Kim, Gram, Jeppe, Brusgaard, Klaus   +3 more
openaire   +3 more sources

Analisi di mutazione del gene CLCN5 in soggetti con caratteristiche cliniche della malattia di Dent.

2002
Congresso Nazionale di Nefrologia Pediatrica, Cagliari, Bingia Pernis, 10-12 ottobre ...
M. FORINO, L. ARTIFONI, R. GRAZIOTTO, G. VEZZOLI, L. MURER, G. GAMBARO, R. ZAGATTI, D'ANGELO, ANGELA, ANGLANI, FRANCA   +8 more
openaire   +1 more source

Genetic Analyses in Dent Disease and Characterization of CLCN5 Mutations in Kidney Biopsies

International Journal of Molecular Sciences, 2020
Lisa Gianesello, Monica Ceol, Loris Bertoldi   +2 more
exaly  

Mutation Update of the Clcn5 Gene Responsible for Dent Disease 1

2015
Mansour-Hendili, Lamisse, et al
openaire   +1 more source

Novel mutations of the CLCN5 gene including a complex allele and A 5′ UTR mutation in Dent disease 1

Clinical Genetics, 2009
TOSETTO, ENRICA, CEOL, MONICA, MEZZABOTTA F, AMMENTI A, PERUZZI L, CARUSO MR, BARBANO G, VEZZOLI G, COLUSSI G, VERGINE G, GIORDANO M, GLORIOSO N, DEGORTES S, SOLDATI L, SAYER J, D'ANGELO, ANGELA, ANGLANI, FRANCA   +16 more
openaire   +3 more sources

A Novel CLCN5 Mutation Associated With Focal Segmental Glomerulosclerosis and Podocyte Injury

Kidney International Reports, 2018
Ashish Kumar Solanki, Ehtesham Arif, Gary Hardiman   +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, Angela D'Angelo   +2 more
exaly