Results 81 to 90 of about 1,497 (161)

Mutations associated with Dent’s disease affect gating and voltage dependence of the human anion/proton exchanger ClC-5

Frontiers in Physiology, 2015
Dent’s disease is associated with impaired renal endocytosis and endosomal acidification. It is linked to mutations in the membrane chloride/proton exchanger ClC-5, however, a direct link between localization in the protein and functional phenotype of ...
Alexi eAlekov
doaj   +1 more source

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

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   +1 more source

Functional and transport analyses of CLCN5 genetic changes identified in Dent disease patients

Physiological Reports, 2016
Dent disease type 1, an X-linked inherited kidney disease is caused by mutations in electrogenic Cl(-)/H(+) exchanger, ClC-5. We functionally studied the most frequent mutation (S244L) and two mutations recently identified in RKSC patients, Q629X and R345W.
Tang, Xiaojing, Brown, Matthew R., Cogal, Andrea G., Gauvin, Daniel, Harris, Peter C., Lieske, John C., Romero, Michael F., Chang, Min‐Hwang   +7 more
openaire   +2 more sources

Nephrocalcinosis – latest reports on risk factors

Pediatria Polska
This review synthesises recent discoveries in the risk factors of nephrocalcinosis, with a particular focus on novel findings. Nephrocalcinosis, characterised by the deposition of calcium salts in the renal parenchyma, is linked to a variety of genetic ...
Tomasz Dudzik, Łucja Dudzik, Igor Domański, Aleksandra Kozieł, Paulina Wójcik, Natalia Kuderska   +5 more
doaj   +1 more source

Mutations in the CLCN5 gene in Japanese patients with familial idiopathic low-molecular-weight proteinuria

Kidney International, 1997
Familial idiopathic low-molecular-weight proteinuria (FILMWP) is a renal proximal tubulopathy that occurs predominantly in males. FILMWP is characterized by mild proteinuria consisting of low-molecular-weight proteinuria, aminoaciduria and relatively conserved renal function, but without rickets. To determine whether FILMWP is related to the CLCN5 gene,
Nakazato, Hitoshi, Hattori, Shinzaburo, Furuse, Akio, Kawano, Tomoyasu, Karashima, Shinnyo, Tsuruta, Motoko, Yoshimuta, Junichiro, Endo, Fumio, Matsuda, Ichiro   +8 more
openaire   +2 more sources

Nephrocalcinosis: the latest reports on risk factors – a review

Pediatria Polska
This review synthesizes recent discoveries in the risk factors of nephrocalcinosis, with a particular focus on novel findings. Nephrocalcinosis, characterized by the deposition of calcium salts in the renal parenchyma, is linked to a variety of genetic ...
Tomasz Dudzik, Łucja Dudzik, Igor Domański, Aleksandra Kozieł, Paulina Wójcik, Natalia Kuderska   +5 more
doaj   +1 more source

Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome

Molecular Genetics & Genomic Medicine, 2019
Background Alport syndrome (AS) is a hereditary disease caused by mutations in COL4A3‐5 genes. Recently, comprehensive genetic analysis has become the first‐line diagnostic tool for AS.
Tomohiko Yamamura, Kandai Nozu, Shogo Minamikawa, Tomoko Horinouchi, Nana Sakakibara, China Nagano, Yuya Aoto, Shinya Ishiko, Koichi Nakanishi, Yuko Shima, Hiroaki Nagase, Rini Rossanti, Ming J. Ye, Yoshimi Nozu, Shingo Ishimori, Naoya Morisada, Hiroshi Kaito, Kazumoto Iijima   +17 more
doaj   +1 more source

Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis

Kidney International, 1997
The annual urinary screening of Japanese children above three years of age has identified a progressive renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria and nephrocalcinosis. The disorder has been observed in over 60 patients and has a familial predisposition.
Akuta, N, Lloyd, SE, Igarashi, T, Shiraga, H, Matsuyama, T, Yokoro, S, Cox, J, Thakker, R   +7 more
openaire   +3 more sources

Effect of growth hormone replacement therapy in a boy with Dent's disease: a case report

Journal of Medical Case Reports, 2011
Introduction Dent's disease is an X-linked recessive proximal tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and progressive renal failure.
Ludwig Michael, Pavicevic Snezana, Samardzic Mira, Bogdanovic Radovan   +3 more
doaj   +1 more source

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

Internal medicine (Tokyo, Japan), 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, Ayumi, Matsui, Isao, Mori, Takayasu, Sakaguchi, Yusuke, Mizui, Masayuki, Ueda, Yoshiyasu, Takahashi, Atsushi, Doi, Yohei, Shimada, Karin, Yamaguchi, Satoshi, Kubota, Keiichi, Hashimoto, Nobuhiro, Oka, Tatsufumi, Takabatake, Yoshitsugu, Sohara, Eisei, Hamano, Takayuki, Uchida, Shinichi, Isaka, Yoshitaka   +17 more
openaire   +2 more sources