Results 51 to 60 of about 93,897 (194)

Dent disease: A window into calcium and phosphate transport. [PDF]

J Cell Mol Med, 2019
This review examines calcium and phosphate transport in the kidney through the lens of the rare X‐linked genetic disorder Dent disease. Dent disease type 1 (DD1) is caused by mutations in the CLCN5 gene encoding ClC‐5, a Cl−/H+ antiporter localized to ...
Anglani F, Gianesello L, Beara-Lasic L, Lieske J.   +3 more
europepmc   +2 more sources

The phosphoinositide 3-kinase inhibitor alpelisib restores actin organization and improves proximal tubule dysfunction in vitro and in a mouse model of Lowe syndrome and Dent disease. [PDF]

Kidney Int, 2020
Loss-of-function mutations in the OCRL gene, which encodes the phosphatidylinositol [PI] 4,5-bisphosphate [PI(4,5)P2] 5-phosphatase OCRL, cause defective endocytosis and proximal tubule dysfunction in Lowe syndrome and Dent disease 2.
Berquez M, Gadsby JR, Festa BP, Butler R, Jackson SP, Berno V, Luciani A, Devuyst O, Gallop JL.   +8 more
europepmc   +2 more sources

Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome.

Nephrology, Dialysis and Transplantation, 2021
BACKGROUND Although Lowe syndrome and Dent disease-2 are both caused by OCRL mutations, their clinical severities differ substantially, and their molecular mechanisms remain unclear.
Nana Sakakibara, T. Ijuin, T. Horinouchi, Tomohiko Yamamura, C. Nagano, Eri Okada, Shinya Ishiko, Y. Aoto, Rini Rossanti, T. Ninchoji, H. Awano, H. Nagase, Shogo Minamikawa, R. Tanaka, T. Matsuyama, Koji Nagatani, K. Kamei, K. Jinnouchi, Y. Ohtsuka, Masafumi Oka, Yoshinori Araki, Toju Tanaka, M. Harada, T. Igarashi, H. Kitahara, N. Morisada, Shun-ichi Nakamura, T. Okada, K. Iijima, K. Nozu   +29 more
semanticscholar   +1 more source

A retrospective case-control analysis of the outpatient expenditures for western medicine and dental treatment modalities in CKD patients in Taiwan. [PDF]

PLoS ONE, 2014
BACKGROUND: To determine if expenditures for dentistry (DENT) correlate with severity of chronic kidney disease (CKD). METHODS: A total of 10,457 subjects were enrolled from January 2008 to December 2010, divided into three groups: healthy control (HC ...
Ren-Yeong Huang, Yuh-Feng Lin, Sen-Yeong Kao, Yi-Shing Shieh, Jin-Shuen Chen   +4 more
doaj   +1 more source

Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study

Orphanet Journal of Rare Diseases, 2022
Background Individuals with glycogen storage disease IIIa (GSD IIIa) (OMIM #232400) experience muscle weakness and exercise limitation that worsen through adulthood.
Philip J. Hennis, Elaine Murphy, Rick I. Meijer, Robin H. Lachmann, Radha Ramachandran, Claire Bordoli, Gurinder Rayat, David J. Tomlinson   +7 more
doaj   +1 more source

Recurring renal lithiasis due to Dent’s disease

Urology Case Reports, 2023
Dent's disease is a rare cause of hypercalciuria and recurring urolithiasis. Patients with this disease have elevated bone resorption due to the presence of parathormone (PTH) in the urine. We describe the case of a 21-year-old male with hypercalciuria, elevated bone resorption and recurring bilateral urolithiasis that achieves radiological and ...
Miquel Amer-Mestre, Jordi Guimerà-García, Ricardo Guldris-García, Miquel Àngel Escribano-Pons, Andrés Podadera-Soriano, Marina Buenechea-García, José Luis Bauzà-Quetglas, Ana Martínez-Moreno, Antonio Tienza-Fernández, Enrique Pieras-Ayala   +9 more
openaire   +4 more sources

Dent Disease with Mutations in OCRL1 [PDF]

The American Journal of Human Genetics, 2005
Dent disease is an X-linked renal proximal tubulopathy associated with mutations in the chloride channel gene CLCN5. Lowe syndrome, a multisystem disease characterized by renal tubulopathy, congenital cataracts, and mental retardation, is associated with mutations in the gene OCRL1, which encodes a phosphatidylinositol 4,5-bisphosphate (PIP(2)) 5 ...
Hoopes, Richard R., Shrimpton, Antony E., Knohl, Stephen J., Hueber, Paul, Hoppe, Bernd, Matyus, Janos, Simckes, Ari, Tasic, Velibor, Toenshoff, Burkhard, Suchy, Sharon F., Nussbaum, Robert L., Scheinman, Steven J.   +11 more
openaire   +2 more sources

First reported case of Dent Disease Type 2 in a Trisomy 21 child

Rare
Dent disease is an X-linked recessive proximal tubulopathy predominantly affecting male children with a classic triad of low molecular weight proteinuria, hypercalciuria and nephrocalcinosis.
Hasani Hewavitharana, Randula Ranawaka, Vajira H.W. Dissanayake   +2 more
doaj   +1 more source

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

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   +1 more source

Establishment of an induced pluripotent stem cell line (NCKDi003-A) from a patient with X-linked Dent disease (X-Dent) carrying the hemizygote mutation p. T277P (c. 829A > C) in the CLCN5 gene

Stem Cell Research, 2021
Dent disease (DD) is a rare X-linked proximal tubulopathy associated with low molecular weight proteinuria (LMWP), hypercalciuria, nephrolithiasis and phosphoruria, which may progress to chronic kidney disease (CKD).
Lidan Hu, Gang Wang, Hangdi Wu, Haidong Fu, Yan Wang, Fan Yu, Zhihong Liu, Jianhua Mao   +7 more
doaj   +1 more source