Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Molecular and Clinical Characterization of a Cohort of Autosomal Recessive Sensorineural Hearing Loss in Egyptian Patients.
Sayed-Ahmed MM et al.
Journal of Molecular Neuroscience : Mn, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
Bartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts.
Vaisbich MH et al.
Nephron, 2023
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.
Liu F et al.
Signal Transduction and Targeted Therapy, 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
Hypokalemia and hearing loss in a 3-year-old boy: Questions.
Aksoy OY et al.
Pediatric Nephrology (berlin, Germany), 2020
Inherited salt-losing tubulopathy: An old condition but a new category of tubulopathy.
Nozu K et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Clinical and diagnostic features of Bartter and Gitelman syndromes.
Walsh PR et al.
Clinical Kidney Journal, 2018
Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.
Ashton EJ et al.
Kidney International, 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
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
Cell biology and physiology of CLC chloride channels and transporters.
Stauber T et al.
Comprehensive Physiology, 2012
Type IV neonatal Bartter syndrome complicated with congenital chloride diarrhea.
Sakallı H et al.
The American Journal of Case Reports, 2012
Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family.
Park CW et al.
Clinical Nephrology, 2011
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
Disease-causing dysfunctions of barttin in Bartter syndrome type IV.
Janssen AG et al.
Journal of the American Society of Nephrology : Jasn, 2009
Endocochlear potential depends on Cl- channels: mechanism underlying deafness in Bartter syndrome IV.
Rickheit G et al.
The Embo Journal, 2008
Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness.
Nozu K et al.
Journal of Medical Genetics, 2008
Unusual adult-onset manifestation of an attenuated Bartter's syndrome type IV renal phenotype caused by a mutation in BSND.
Brum S et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2007
Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families.
García-Nieto V et al.
Pediatric Nephrology (berlin, Germany), 2006
A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IV.
Kitanaka S et al.
Pediatric Nephrology (berlin, Germany), 2006
Inherited Na transport disorders: the taming of the syndromes.
Vehaskari VM
Current Opinion in Pediatrics, 2004
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 is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion.
Estévez R et al.
Nature, 2001
Deafness genes and their diagnostic applications.
Cryns K et al.
Audiology & Neuro-otology, 0
Adult presentation of Bartter syndrome type IV with erythrocytosis.
Heilberg IP et al.
Einstein (sao Paulo, Brazil), 0
Cochlear implantation in children with Bartter syndrome: A case report.
Badr KM et al.
Science Progress, 0
Congenital Nephrogenic Diabetes Insipidus Secondary to Antenatal Type IVa Bartter Syndrome.
Oweidat M et al.
Sage Open Pediatrics, 0