Results 31 to 40 of about 2,467 (196)
Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent’sJapan disease [PDF]
Kidney International, 1998 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, and this represents a variant of Dent's disease.
Igarashi, T +11 more
openaire +3 more sources
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
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
Skin Research and Technology, Volume 29, Issue 10, October 2023., 2023 Abstract Background Extramammary Paget's disease (EMPD) is a rare cutaneous malignant tumor with a high recurrence rate after surgery. However, the genetic and epigenetic alterations underlying its pathogenesis remain unknown. DNA methylation is an important epigenetic modification involved in many biological processes. Methods In this study, enzymatic
Ziwei Kang +7 more
wiley +1 more source
A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification [PDF]
Human Mutation, 2018 Dent disease is an X-linked recessive renal tubular disorder characterized by low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. Inactivating mutations of CLCN5, the gene encoding the 2Cl- /H+ exchanger ClC-5, have been reported in patients with Dent disease 1.
Bignon, Yohan +7 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
Prenatal Diagnosis, Volume 43, Issue 10, Page 1320-1332, September 2023., 2023 Abstract Objective Recent studies have integrated copy number variant (CNV) and gene analysis using target enrichment. Here, we transferred this concept to our routine genetics laboratory, which is not linked to centralized non‐invasive prenatal testing (NIPT) facilities.
Lucie Faldynová +6 more
wiley +1 more source
Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1 [PDF]
Clinical and Experimental Nephrology, 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.
Tomohiko Inoue +13 more
openaire +2 more sources
Journal of Bone and Mineral Research, Volume 38, Issue 8, Page 1125-1134, August 2023., 2023 ABSTRACT DNA sequencing is a reliable tool for identifying genetic variants in osteogenesis imperfecta (OI) but cannot always establish pathogenicity, particularly in variants altering splicing. RNA sequencing can provide functional evidence of the effect of a variant on the transcript but requires cells expressing the relevant genes.
Karissa Ludwig +6 more
wiley +1 more source