Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKB
Variant:p.T481S
Back to variants list

CLCNKB

NM_000085.5:p.T481S

Associated Papers

Intercalated Cell ClC-K2 Channel Contributes to Systemic Cl- Balance and Acid-Base Homeostasis.

Atamanchuk A et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025

Regulation of ClC-K/barttin by endocytosis influences distal convoluted tubule hyperplasia.

Mayayo-Vallverdú C et al.

The Journal of Physiology, 2024

ClC-K Kidney Chloride Channels: From Structure to Pathology.

Andrini O et al.

Handbook of Experimental Pharmacology, 2024

Somatic mutations reveal hyperactive Notch signaling and racial disparities in prurigo nodularis.

Rajeh A et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808834 (PubMed )
Supplement: media-2.xlsx › pnSomatic_supplement_tableS2

Small Molecules Targeting Kidney ClC-K Chloride Channels: Applications in Rare Tubulopathies and Common Cardiovascular Diseases.

Coppola MA et al.

Biomolecules, 2023

Modus operandi of ClC-K2 Cl- Channel in the Collecting Duct Intercalated Cells.

Stavniichuk A et al.

Biomolecules, 2023

Kidney ion handling genes and their interaction in blood pressure control.

An C et al.

Bioscience Reports, 2022

Genetic factors contributing to hypertension in African-based populations: A systematic review and meta-analysis.

Yako YY et al.

Journal of Clinical Hypertension (greenwich, Conn.), 2018

Future considerations based on the information from Barrter's and Gitelman's syndromes.

Alfandary H et al.

Current Opinion in Nephrology and Hypertension, 2017

ClC Channels and Transporters: Structure, Physiological Functions, and Implications in Human Chloride Channelopathies.

Poroca DR et al.

Frontiers in Pharmacology, 2017

New perspective of ClC-Kb/2 Cl- channel physiology in the distal renal tubule.

Zaika O et al.

American Journal of Physiology. Renal Physiology, 2016

ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3.

Andrini O et al.

American Journal of Physiology. Renal Physiology, 2015

CLC channel function and dysfunction in health and disease.

Stölting G et al.

Frontiers in Physiology, 2014

Cell biology and physiology of CLC chloride channels and transporters.

Stauber T et al.

Comprehensive Physiology, 2012

A predictive model of the association between gene polymorphism and the risk of noise-induced hearing loss caused by gunfire noise.

Yuan BC et al.

Journal of the Chinese Medical Association : Jcma, 2012

Lack of association of variants of the renal salt reabsorption-related genes SLC12A3 and ClC-Kb and hypertension in Mongolian and Han populations in Inner Mongolia.

Chang PY et al.

Genetics and Molecular Research : Gmr, 2011

Loss-of-function DNA sequence variant in the CLCNKA chloride channel implicates the cardio-renal axis in interindividual heart failure risk variation.

Cappola TP et al.

Proceedings of the National Academy of Sciences of the United States of America, 2011

Physiology and pathophysiology of ClC-K/barttin channels.

Fahlke C et al.

Frontiers in Physiology, 2010

Chloride channelopathies.

Planells-Cases R et al.

Biochimica Et Biophysica Acta, 2009

Chloride channels as drug targets.

Verkman AS et al.

Nature Reviews. Drug Discovery, 2009

CLCNKB-T481S and essential hypertension in a Ghanaian population.

Sile S et al.

Journal of Hypertension, 2009

Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance.

Krämer BK et al.

Nature Clinical Practice. Nephrology, 2008

Haplotype diversity in four genes (CLCNKA, CLCNKB, BSND, NEDD4L) involved in renal salt reabsorption.

Sile S et al.

Human Heredity, 2008

Common genetic variants and haplotypes in renal CLCNKA gene are associated to salt-sensitive hypertension.

Barlassina C et al.

Human Molecular Genetics, 2007

The functional variant of the CLC-Kb channel T481S is not associated with blood pressure or hypertension in Swedes.

Fava C et al.

Journal of Hypertension, 2007

Inherited renal tubulopathies associated with metabolic alkalosis: effects on blood pressure.

Ariceta G et al.

Seminars in Nephrology, 2006

Molecular physiology of renal ClC chloride channels/transporters.

Sile S et al.

Current Opinion in Nephrology and Hypertension, 2006

Influence of gain of function epithelial chloride channel ClC-Kb mutation on hearing thresholds.

Frey A et al.

Hearing Research, 2006

Activating mutation of the renal epithelial chloride channel ClC-Kb predisposing to hypertension.

Milton AG et al.

Hypertension (dallas, Tex. : 1979), 2006

How Bartter's and Gitelman's syndromes, and Dent's disease have provided important insights into the function of three renal chloride channels: ClC-Ka/b and ClC-5.

Briet M et al.

Nephron. Physiology, 2006

No association with hypertension of CLCNKB and TNFRSF1B polymorphisms at a hypertension locus on chromosome 1p36.

Speirs HJ et al.

Journal of Hypertension, 2005

Chloride channel diseases resulting from impaired transepithelial transport or vesicular function.

Jentsch TJ et al.

The Journal of Clinical Investigation, 2005

Chloride transport in the kidney: lessons from human disease and knockout mice.

Jentsch TJ

Journal of the American Society of Nephrology : Jasn, 2005

Renal tubular transport and the genetic basis of hypertensive disease.

Lang F et al.

Clinical and Experimental Nephrology, 2005

Salt handling in the distal nephron: lessons learned from inherited human disorders.

Jeck N et al.

American Journal of Physiology. Regulatory, Integrative and Comparative Physiology, 2005

Association analysis between hypertension and CYBA, CLCNKB, and KCNMB1 functional polymorphisms in the Japanese population--the Suita Study.

Kokubo Y et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2005

Activating mutation of the renal epithelial chloride channel ClC-Kb predisposing to hypertension.

Jeck N et al.

Hypertension (dallas, Tex. : 1979), 2004

A common sequence variation of the CLCNKB gene strongly activates ClC-Kb chloride channel activity.

Jeck N et al.

Kidney International, 2004

Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.

Konrad M et al.

Journal of the American Society of Nephrology : Jasn, 2000

CLC chloride channels and transporters: from genes to protein structure, pathology and physiology.

Jentsch TJ

Critical Reviews in Biochemistry and Molecular Biology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."