Results 31 to 40 of about 1,497 (161)
From protein uptake to Dent disease: An overview of the CLCN5 gene
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
Lisa Gianesello +5 more
openaire +3 more sources
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 +5 more
doaj +1 more source
The Concise Guide to PHARMACOLOGY 2023/24: Ion channels
British Journal of Pharmacology, Volume 180, Issue S2, Page S145-S222, October 2023., 2023 The Concise Guide to PHARMACOLOGY 2023/24 is the sixth in this series of biennial publications. The Concise Guide provides concise overviews, mostly in tabular format, of the key properties of approximately 1800 drug targets, and over 6000 interactions with about 3900 ligands. There is an emphasis on selective pharmacology (where available), plus links
Stephen P. H. Alexander +72 more
wiley +1 more source
Journal of Neurochemistry, Volume 167, Issue 1, Page 52-75, October 2023., 2023 Astrocytes interact with neighboring cells, including neurons and endothelia. Neurons induce maturation of the astrocyte transcriptome and endothelia induce expression of a few markers of mature astrocytes. However, it is not known if and how neurons and endothelia interact to regulate the astrocyte transcriptome.
Zila Martinez‐Lozada +5 more
wiley +1 more source
Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease [PDF]
Kidney International, 2000 Dent's disease is an X-linked renal tubular disorder that is characterized by low molecular weight proteinuria, hypercalciuria, nephrolithiasis, and renal failure. The disease is caused by inactivation of a renal chloride channel gene, CLCN5, that encodes a 746-amino acid protein with 12 to 13 transmembrane domains.
Igarashi, T +5 more
openaire +2 more sources
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 +8 more
doaj +1 more source
Nefrología, 2023 Resumen: Antecedentes y objetivo: La enfermedad de Dent tipo 1 (DD1) es una enfermedad hereditaria rara ligada al cromosoma X causada por mutaciones en el CLCN5 que se caracteriza principalmente por una disfunción del túbulo proximal, hipercalciuria ...
Carla Burballa +5 more
doaj +1 more source
BMC Nephrology, 2021 Background Dent disease is an X-linked form of progressive renal disease. This rare disorder was characterized by hypercalciuria, low molecular weight (LMW) proteinuria and proximal tubular dysfunction, caused by pathogenic variants in CLCN5 (Dent ...
Nan Duan +5 more
doaj +1 more source
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 +6 more
doaj +1 more source
Tubular proteinuria defined by a study of Dent's (CLCN5 mutation) and other tubular diseases [PDF]
Kidney International, 2000 Tubular proteinuria defined by a study of Dent's ( CLCN5 mutation) and other tubular diseases.The term "tubular proteinuria" is often used interchangeably with "low molecular weight proteinuria" (LMWP), although the former implies a definite etiology. A specific quantitative definition of tubular proteinuria is needed, and we address this by studying ...
Norden, Anthony G. W. +7 more
openaire +3 more sources