Associated Papers
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS04_het
Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1-Deficient Mice.
Faridi R et al.
Genes, 2024
39062623 (PubMed )
Supplement: genes-15-00845-s001.zip › genes-3045527-Table_S4.xlsx › PKDF1419_SumandMuh_121423_Genet
Lack of association between AQP4 polymorphisms and risk of inflammatory demyelinating disease in a Korean population.
Park TJ et al.
Gene, 2014
D184E mutation in aquaporin-4 gene impairs water permeability and links to deafness.
Nicchia GP et al.
Neuroscience, 2011
Genetic variation in human aquaporins and effects on phenotypes of water homeostasis.
Sorani MD et al.
Human Mutation, 2008
Novel variants in human Aquaporin-4 reduce cellular water permeability.
Sorani MD et al.
Human Molecular Genetics, 2008
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