Results 1 to 10 of about 2,184 (189)

IL-4 Up-Regulates MiR-21 and the MiRNAs Hosted in the CLCN5 Gene in Chronic Lymphocytic Leukemia. [PDF]

PLoS ONE, 2015
Interleukin 4 (IL-4) induces B-cell differentiation and survival of chronic lymphocytic leukemia (CLL) cells. MicroRNAs (miRNAs) regulate mRNA and protein expression, and several miRNAs, deregulated in CLL, might play roles as oncogenes or tumor ...
Natalia Ruiz-Lafuente, María-José Alcaraz-García, Silvia Sebastián-Ruiz, Azahara-María García-Serna, Joaquín Gómez-Espuch, José-María Moraleda, Alfredo Minguela, Ana-María García-Alonso, Antonio Parrado   +8 more
doaj   +7 more sources

Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1. [PDF]

Clin Exp Nephrol, 2020
Abstract Background In recent years, the elucidation of splicing abnormalities as a cause of hereditary diseases has progressed. However, there are no comprehensive reports of suspected splicing variants in the CLCN5 gene in Dent disease cases.
Inoue T, Nagano C, Matsuo M, Yamamura T, Sakakibara N, Horinouchi T, Shibagaki Y, Ichikawa D, Aoto Y, Ishiko S, Ishimori S, Rossanti R, Iijima K, Nozu K.   +13 more
europepmc   +6 more sources

Case report: a Chinese girl with dent disease 1 and turner syndrome due to a hemizygous CLCN5 gene mutation and Isochromosome (Xq) [PDF]

BMC Nephrology, 2020
Background Female Dent disease 1 patients with low-molecular-weight proteinuria (LMWP) due to CLCN5 gene mutation were rarely reported, and these cases that the people were also with Turner syndrome (TS) were even hardly documented before.
Yuhong Ye, Jingjing Wang, Xiaofang Quan, Ke Xu, Haidong Fu, Weiyue Gu, Jianhua Mao   +6 more
doaj   +5 more sources

Three intronic variants altering RNA splicing were identified in the CLCN5 gene by minigene assay [PDF]

BMC Medical Genomics
Background The Dent disease 1 is a rarely inherited renal tubular disease caused by variants in the CLCN5 gene. Increasing evidence suggests that many intronic variants can affect the normal splicing of pre-mRNA by altering various splicing regulatory ...
Dan Qiao, Xuyan Liu, Irene Bottillo, Ran Zhang, Leping Shao   +4 more
doaj   +4 more sources

The first Sri Lankan family with Dent disease-1 due to a pathogenic variant in the CLCN5 gene: a case report [PDF]

BMC Research Notes, 2017
Background Dent disease-1 is a rare X-linked recessive renal tubular disorder caused by pathogenic variants in the chloride voltage-gated channel 5 (CLCN5) gene.
Randula Ranawaka, Nirmala Dushyanthi Sirisena, Kavinda Chandimal Dayasiri, Andrea G. Cogal, John C. Lieske, Manoji Prabashini Gamage, Vajira H. W. Dissanayake   +6 more
doaj   +5 more sources

From protein uptake to Dent disease: An overview of the CLCN5 gene. [PDF]

Gene, 2020
Proteinuria is a well-known risk factor, not only for renal disorders, but also for several other problems such as cardiovascular diseases and overall mortality. In the kidney, the chloride channel Cl-/H+ exchanger ClC-5 encoded by the CLCN5 gene is actively involved in preventing protein loss. This action becomes evident in patients suffering from the
Gianesello L, Del Prete D, Ceol M, Priante G, Calò LA, Anglani F.   +5 more
europepmc   +4 more sources

Correction to: Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1. [PDF]

Clin Exp Nephrol, 2021
A correction to this paper has been published: https://doi.org/10.1007/s10157-021-02041 ...
Inoue T, Nagano C, Matsuo M, Yamamura T, Sakakibara N, Horinouchi T, Shibagaki Y, Ichikawa D, Aoto Y, Ishiko S, Ishimori S, Rossanti R, Iijima K, Nozu K.   +13 more
europepmc   +3 more sources

Albumin uptake in human podocytes: a possible role for the cubilin-amnionless (CUBAM) complex [PDF]

Scientific Reports, 2017
Albumin re-uptake is a receptor-mediated pathway located in renal proximal tubuli. There is increasing evidence of glomerular protein handling by podocytes, but little is known about the mechanism behind this process.
Lisa Gianesello, Giovanna Priante, Monica Ceol, Claudia M. Radu, Moin A. Saleem, Paolo Simioni, Liliana Terrin, Franca Anglani, Dorella Del Prete   +8 more
doaj   +2 more sources

Two brothers with identical variants of the CLCN5 gene-one developing Dent's disease. [PDF]

Clin Kidney J, 2018
Dent's disease is characterized by manifestations of proximal tubule dysfunction including hypercalciuria, kidney stones, proteinuria, rickets and progressively declining kidney function. The diagnosis is based on the presence of low-molecular-weight proteinuria, hypercalciuria and at least one of the following: nephrocalcinosis, kidney stones ...
Fischer AS, Marcussen N, Rasmussen M, Randers E.   +3 more
europepmc   +6 more sources

Severe Osteomalacia with Dent Disease Caused by a Novel Intronic Mutation of the CLCN5 gene. [PDF]

Intern Med, 2018
We present a case of Dent disease caused by a novel intronic mutation, 1348-1G>A, of the chloride voltage-gated channel 5 (CLCN5) gene. Cultured proximal tubule cells obtained from the patient showed impaired acidification of the endosome and/or lysosome, indicating that the 1348-1G>A mutation was indeed the cause of Dent disease.
Matsumoto A, Matsui I, Mori T, Sakaguchi Y, Mizui M, Ueda Y, Takahashi A, Doi Y, Shimada K, Yamaguchi S, Kubota K, Hashimoto N, Oka T, Takabatake Y, Sohara E, Hamano T, Uchida S, Isaka Y.   +17 more
europepmc   +3 more sources