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An Extended Iranian Family with Autosomal Dominant Non-syndromic Hearing Loss Associated with A Nonsense Mutation in the DIAPH1 Gene.
Arch Iran Med. 2023 Mar 1;26(3):176-180. doi: 10.34172/aim.2023.27.
Arch Iran Med. 2023.
PMID: 37543941
Free PMC article.
Using this method, we identified a known heterozygous nonsense variant in exon 26 of the DIAPH1 gene (MIM: 602121), which led to "Deafness, autosomal dominant 1, with or without thrombocytopenia; DFNA1" (MIM: 124900) in this large family in the absence …
Using this method, we identified a known heterozygous nonsense variant in exon 26 of the DIAPH1 gene (MIM: 602121), which led to "Deafnes …
Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1).
Neuhaus C, Lang-Roth R, Zimmermann U, Heller R, Eisenberger T, Weikert M, Markus S, Knipper M, Bolz HJ.
Neuhaus C, et al.
Clin Genet. 2017 Jun;91(6):892-901. doi: 10.1111/cge.12915. Epub 2016 Dec 16.
Clin Genet. 2017.
PMID: 27808407
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The integrity of cochlear hair cells is established and maintained through the localization of Dia1 at apical junctional complexes and stereocilia.
Ninoyu Y, Sakaguchi H, Lin C, Suzuki T, Hirano S, Hisa Y, Saito N, Ueyama T.
Ninoyu Y, et al.
Cell Death Dis. 2020 Jul 16;11(7):536. doi: 10.1038/s41419-020-02743-z.
Cell Death Dis. 2020.
PMID: 32678080
Free PMC article.
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A novel missense variant in the DIAPH1 gene in a Korean family with autosomal dominant nonsyndromic hearing loss.
Kang TH, Baek JI, Sagong B, Park HJ, Park CI, Lee KY, Kim UK.
Kang TH, et al.
Genes Genet Syst. 2017 Apr 4;91(5):289-292. doi: 10.1266/ggs.16-00041. Epub 2016 Dec 21.
Genes Genet Syst. 2017.
PMID: 28003573
Free article.
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