Varaico: Literature-Extracted Genetic Variants

Gene:BSND
Variant:p.R8L
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BSND

NM_057176.3:p.R8L

Associated Papers

DHHC7-mediated palmitoylation of the accessory protein barttin critically regulates the functions of ClC-K chloride channels.

Gorinski N et al.

The Journal of Biological Chemistry, 2020

Clinical importance of potassium intake and molecular mechanism of potassium regulation.

Nomura N et al.

Clinical and Experimental Nephrology, 2019

Learning Physiology From Inherited Kidney Disorders.

van der Wijst J et al.

Physiological Reviews, 2019

Activation of renal ClC-K chloride channels depends on an intact N terminus of their accessory subunit barttin.

Wojciechowski D et al.

The Journal of Biological Chemistry, 2018

Role of ClC-K and barttin in low potassium-induced sodium chloride cotransporter activation and hypertension in mouse kidney.

Nomura N et al.

Bioscience Reports, 2018

Barttin Regulates the Subcellular Localization and Posttranslational Modification of Human Cl-/H+ Antiporter ClC-5.

Wojciechowski D et al.

Frontiers in Physiology, 2018

Bartter syndrome: causes, diagnosis, and treatment.

Cunha TDS et al.

International Journal of Nephrology and Renovascular Disease, 2018

Regulatory-auxiliary subunits of CLC chloride channel-transport proteins.

Barrallo-Gimeno A et al.

The Journal of Physiology, 2015

Treatment with 17-allylamino-17-demethoxygeldanamycin ameliorated symptoms of Bartter syndrome type IV caused by mutated Bsnd in mice.

Nomura N et al.

Biochemical and Biophysical Research Communications, 2013

Generation and analyses of R8L barttin knockin mouse.

Nomura N et al.

American Journal of Physiology. Renal Physiology, 2011

A case of antenatal Bartter syndrome with sensorineural deafness.

Lee HS et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2010

Physiology and pathophysiology of ClC-K/barttin channels.

Fahlke C et al.

Frontiers in Physiology, 2010

Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.

Brochard K et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2009

Deletion of exons 2-4 in the BSND gene causes severe antenatal Bartter syndrome.

Bircan Z et al.

Pediatric Nephrology (berlin, Germany), 2009

Prediction of disease-related mutations affecting protein localization.

Laurila K et al.

Bmc Genomics, 2009

Disease-causing dysfunctions of barttin in Bartter syndrome type IV.

Janssen AG et al.

Journal of the American Society of Nephrology : Jasn, 2009

Barttin binds to the outer lateral surface of the ClC-K2 chloride channel.

Tajima M et al.

Biochemical and Biophysical Research Communications, 2007

Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene.

Hayama A et al.

Histochemistry and Cell Biology, 2003

Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin.

Miyamura N et al.

The Journal of Clinical Endocrinology and Metabolism, 2003

Barttin increases surface expression and changes current properties of ClC-K channels.

Waldegger S et al.

Pflugers Archiv : European Journal of Physiology, 2002

Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion.

Estévez R et al.

Nature, 2001

Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.

Birkenhäger R et al.

Nature Genetics, 2001

Cochlear implantation in children with Bartter syndrome: A case report.

Badr KM et al.

Science Progress, 0

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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."