Results 41 to 50 of about 2,184 (189)

Screening for CLCN5 mutation in renal calcium stone formers patients

Anais da Academia Brasileira de Ciências, 2005
Thirty-five patients (23 males and 12 females), age 35 ± 13 years old, presenting either idiopathic calcium nephrolithiasis, nephrocalcinosis or mild renal failure with idiopathic calcium nephrolithiasis were selected for the analysis of low ...
Maria Alice P. Rebelo, Vera Tostes, Nordeval C. Araújo, Sabrina V. Martini, Bruno F. Botelho, William B. Guggino, Marcelo M. Morales   +6 more
doaj   +1 more source

Dent disease presenting with nyctalopia and electroretinographic correlates of vitamin A deficiency

American Journal of Ophthalmology Case Reports, 2023
Purpose: To report a unique case of Dent Disease presenting with nyctalopia associated with vitamin A deficiency and abnormal electroretinogram findings without prior systemic symptomatology.
Justin J. Arnett, Alexa Li, Shaden H. Yassin, Robin Miller, Lori Taylor, Caitlin E. Carter, Katayoon Shayan-Tabrizi, Shyamanga Borooah   +7 more
doaj   +1 more source

Inference of gene-phenotype associations via protein-protein interaction and orthology [PDF]

, 2013
published_or_final_versio
Lai, WF, Li, J, Lovell-Badge, R, Wang, JJ, Wang, P, Xu, F, Yalamanchili, HK   +6 more
core   +3 more sources

Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report

BMC Medical Genomics, 2019
Background Two interstitial microdeletions Xp11.22 including the CLCN5 and SHROOM4 genes were recently reported in a male individual affected with Dent disease, short stature, psychomotor delay and minor facial anomalies. Dent disease, characterized by a
Magdalena Danyel, Eun Kyung Suk, Vera Raile, Jutta Gellermann, Alexej Knaus, Denise Horn   +5 more
doaj   +1 more source

A role for OCRL in glomerular function and disease [PDF]

, 2019
Background: Lowe syndrome and Dent-2 disease are caused by mutations in the OCRL gene, which encodes for an inositol 5-phosphatase. The renal phenotype associated with OCRL mutations typically comprises a selective proximal tubulopathy, which can ...
Bierzynska, Agnieszka, Lennon, Rachel, Lowe, Martin, Naylor, Richard W., Preston, Rebecca, Saleem, Moin A., Stewart, Graham   +6 more
core   +4 more sources

The CLC-5 2Cl-/H+ exchange transporter in endosomal function and Dent's disease [PDF]

, 2012
CLC-5 plays a critical role in the process of endocytosis in the proximal tubule of the kidney and mutations that alter protein function are the cause of Dent's I disease.
Lippiat, JD, Smith, AJ
core   +2 more sources

Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene

BMC Nephrology, 2022
Background Dent disease is an X-linked disorder characterized by low molecular weight proteinuria (LMWP), hypercalciuria, nephrolithiasis and chronic kidney disease (CKD).
Eleni Drosataki, Sevasti Maragkou, Kleio Dermitzaki, Ioanna Stavrakaki, Dimitra Lygerou, Helen Latsoudis, Christos Pleros, Ioannis Petrakis, Ioannis Zaganas, Kostas Stylianou   +9 more
doaj   +1 more source

Genetic diagnosis of fetal microcephaly at a single tertiary center in China

Frontiers in Genetics, 2023
Background: Microcephaly is common in patients with neuropsychiatric problems, and it is usually closely related to genetic causes. However, studies on chromosomal abnormalities and single-gene disorders associated with fetal microcephaly are limited ...
You Wang, You Wang, Fang Fu, Tingying Lei, Li Zhen, Qiong Deng, Hang Zhou, Chunling Ma, Ken Cheng, Ken Cheng, Ruibin Huang, Ru Li, Qiuxia Yu, Lushan Li, Jin Han, Xin Yang, Dongzhi Li, Can Liao, Can Liao   +18 more
doaj   +1 more source

Genetic, Pathophysiological and Clinical Aspects of Nephrocalcinosis [PDF]

, 2016
Nephrocalcinosis describes the ectopic deposition of calcium salts in the kidney parenchyma. Nephrocalcinosis can result from a number of acquired causes, but also an even greater number of genetic diseases, predominantly renal, but also extra-renal ...
Ben Oliveira, Detlef Bockenhauer, Ekengren K, Em W, Gonlusen G, Hou J, Hufnagle KG, Ichiyama A, Lenarduzzi G, LiPuma J, Nishiyama S, Pahari A, Robert Kleta, Stephen B. Walsh, Wrong O, Wrong OM, Wrong OM, Wrong OM   +17 more
core   +1 more source

Identification of Chloride Channels CLCN3 and CLCN5 Mediating the Excitatory Cl− Currents Activated by Sphingosine-1-Phosphate in Sensory Neurons

Frontiers in Molecular Neuroscience, 2018
Sphingosine-1-phosphate (S1P) is a bioactive sphingolipid involved in numerous physiological and pathophysiological processes. We have previously reported a S1P-induced nocifensive response in mice by excitation of sensory neurons via activation of an ...
Yanmei Qi, Norbert Mair, Kai K. Kummer, Michael G. Leitner, María Camprubí-Robles, Michiel Langeslag, Michaela Kress   +6 more
doaj   +1 more source