Associated Papers
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
Clinical Course and Prognosis of Tubulopathies Characterized by Metabolic Alkalosis in Children.
Huseynli B et al.
Turkish Archives of Pediatrics, 2022
Molecular Genetic Analysis of Newborns with Congenital Microcephaly.
Ye C et al.
Neonatology, 2022
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
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
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 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
Bartter syndrome: causes, diagnosis, and treatment.
Cunha TDS et al.
International Journal of Nephrology and Renovascular Disease, 2018
Mutation spectrum of Chinese patients with Bartter syndrome.
Han Y et al.
Oncotarget, 2017
Digenic mutations involving both the BSND and GJB2 genes detected in Bartter syndrome type IV.
Wang HH et al.
International Journal of Pediatric Otorhinolaryngology, 2017
Regulatory-auxiliary subunits of CLC chloride channel-transport proteins.
Barrallo-Gimeno A et al.
The Journal of Physiology, 2015
Human CLC-K Channels Require Palmitoylation of Their Accessory Subunit Barttin to Be Functional.
Steinke KV et al.
The Journal of Biological Chemistry, 2015
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
Deletion of exons 2-4 in the BSND gene causes severe antenatal Bartter syndrome.
Bircan Z et al.
Pediatric Nephrology (berlin, Germany), 2009
Disease-causing dysfunctions of barttin in Bartter syndrome type IV.
Janssen AG et al.
Journal of the American Society of Nephrology : Jasn, 2009
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