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BARTTER SYNDROME, TYPE 4A

Known as: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS, BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS, BSND 
National Institutes of Health

Related topics

Related topics

15 relations
Autosomal recessive inheritanceBSND geneFailure to ThriveGenetic Heterogeneity

Broader (2)

Bartter DiseaseSensorineural Hearing Loss (disorder)

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome
Significance Our current understanding of genetic disease is often inadequate, largely due to genetic background effects that… 
2017
2017
Reduced Membrane Insertion of CLC-K by V33L Barttin Results in Loss of Hearing, but Leaves Kidney Function Intact
In the mammalian ear, transduction of sound stimuli is initiated by K+ entry through mechano-sensitive channels into inner hair… 
2014
2014
Severe manifestation of Bartter syndrome Type IV caused by a novel insertion mutation in the BSND gene.
Bartter syndrome Type IV is a rare subtype of the Bartter syndromes that leads to both severe renal salt wasting and… 
2013
2013
Treatment with 17-allylamino-17-demethoxygeldanamycin ameliorated symptoms of Bartter syndrome type IV caused by mutated Bsnd in mice.
2012
2012
Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus—update and epidemiology
It is clinically useful to distinguish between two types of hereditary nephrogenic diabetes insipidus (NDI): a ‘pure’ type… 
2011
2011
Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family.
Bartter syndrome (BS) Type IV, associated with a G47R mutation in the BSND gene, is known to result in a mild renal phenotype… 
2009
2009
Deletion of exons 2–4 in the BSND gene causes severe antenatal Bartter syndrome
BSND gene mutations usually cause severe forms of antenatal Bartter syndrome and sensorineural deafness (SND). Chronic renal… 
2006
2006
Unusual adult-onset manifestation of an attenuated Bartter's syndrome type IV renal phenotype caused by a mutation in BSND.
Watkins PJ. Anemia with erythropoietin deficiency occurs early in diabetic nephropathy. Diabetes Care 2001; 24: 495–499 2… 
2006
2006
Influence of gain of function epithelial chloride channel ClC-Kb mutation on hearing thresholds
2004
2004
Mild Nephrogenic Diabetes Insipidus Caused by Foxa1 Deficiency*
Foxa1 is a member of the winged helix family of transcription factors and is expressed in the collecting ducts of the kidney. We… 
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