Condition: BARTTER SYNDROME, TYPE 4A


rs74315285 in BSND gene and BARTTER SYNDROME, TYPE 4A PMID 12574213 2003 Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin.

PMID 12761627 2003 Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene.

PMID 12111250 2002 Barttin increases surface expression and changes current properties of ClC-K channels.

PMID 11687798 2001 Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.

PMID 19096086 2009 Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.

PMID 16583241 2006 Type IV Bartter syndrome: report of two new cases.

PMID 24902942 2014 Phosphate homeostasis in Bartter syndrome: a case-control study.

PMID 16328537 2006 A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IV.

PMID 11734858 2001 Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion.

PMID 16572343 2006 Clinical manifestations are moderate in patients with the G47R mutation compared to other published data form patients with BSND.

PMID 16935888 2007 Unusual adult-onset manifestation of an attenuated Bartter's syndrome type IV renal phenotype caused by a mutation in BSND.

PMID 18776122 2009 Disease-causing dysfunctions of barttin in Bartter syndrome type IV.

PMID 26537508 2016 Adult presentation of Bartter syndrome type IV with erythrocytosis.

PMID 21269598 2011 Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family.