Associated Papers
Expanding Genotype-Phenotype Correlation of CLCNKA and CLCNKB Variants Linked to Hearing Loss.
Yun Y et al.
International Journal of Molecular Sciences, 2023
Molecular genetic landscape of hereditary hearing loss in Pakistan.
Naz S
Human Genetics, 2022
Spectrum of genetic variants in moderate to severe sporadic hearing loss in Pakistan.
Ramzan M et al.
Scientific Reports, 2020
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Richard EM et al.
Human Mutation, 2019
Genetic causes of moderate to severe hearing loss point to modifiers.
Naz S et al.
Clinical Genetics, 2017
Reduced Membrane Insertion of CLC-K by V33L Barttin Results in Loss of Hearing, but Leaves Kidney Function Intact.
Tan H et al.
Frontiers in Physiology, 2017
Regulatory-auxiliary subunits of CLC chloride channel-transport proteins.
Barrallo-Gimeno A et al.
The Journal of Physiology, 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
Autosomal recessive nonsyndromic deafness genes: a review.
Duman D et al.
Frontiers in Bioscience (landmark Edition), 2012
Loop disorders: insights derived from defined genotypes.
Jeck N et al.
Nephron. Physiology, 2011
Identification of missense mutation (I12T) in the BSND gene and bioinformatics analysis.
Iqbal H et al.
Journal of Biomedicine & Biotechnology, 2011
Physiology and pathophysiology of ClC-K/barttin channels.
Fahlke C et al.
Frontiers in Physiology, 2010
Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.
Riazuddin S et al.
American Journal of Human Genetics, 2009
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