Associated Papers
Impact of Missense Variants on the Structure and Function of Polycystic Ovary Syndrome-Associated HSD17B1 Gene.
Bhandary P et al.
Biochemical Genetics, 2025
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
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
Accentuated hyperparathyroidism in type II Bartter syndrome.
Landau D et al.
Pediatric Nephrology (berlin, Germany), 2016
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
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
Loop disorders: insights derived from defined genotypes.
Jeck N et al.
Nephron. 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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Disease-causing dysfunctions of barttin in Bartter syndrome type IV.
Janssen AG et al.
Journal of the American Society of Nephrology : Jasn, 2009
A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IV.
Kitanaka S et al.
Pediatric Nephrology (berlin, Germany), 2006
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