Associated Papers
A novel frameshift mutation in the DIAPH1 gene causes a Chinese family autosomal dominant nonsyndromic hearing loss: Mutation in DIAPH1 causes hearing loss.
Feng Q et al.
Gene, 2025
Monogenic Causes of Low-Frequency Non-Syndromic Hearing Loss.
Gan NS et al.
Audiology & Neuro-otology, 2023
Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss.
Chiereghin C et al.
Cells, 2022
35681420 (PubMed )
Supplement: cells-11-01726-s001.zip › cells-1661972-supplementary.xlsx › Table_S1_hearing_phenotipes_
Exome sequencing of Japanese schizophrenia multiplex families supports the involvement of calcium ion channels.
Toyama M et al.
Plos One, 2022
35536790 (PubMed )
Supplement: pone.0268321.s003.xlsx › Sheet1
Formins in Human Disease.
Labat-de-Hoz L et al.
Cells, 2021
34685534 (PubMed )
Supplement: cells-10-02554-s001.zip › cells-1303429-supplementary.xlsx › Table_S3_DIAPH1
Variable Autoinhibition among Deafness-Associated Variants of Diaphanous 1 (DIAPH1).
Lakha R et al.
Biochemistry, 2021
DIAPH1 regulates ciliogenesis and trafficking in primary cilia.
Palander O et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020
A novel variant in diaphanous homolog 1 (DIAPH1) as the cause of auditory neuropathy in a Chinese family.
Wu K et al.
International Journal of Pediatric Otorhinolaryngology, 2020
Differential disruption of autoinhibition and defect in assembly of cytoskeleton during cell division decide the fate of human DIAPH1-related cytoskeletopathy.
Kim BJ et al.
Journal of Medical Genetics, 2019
A novel missense variant in the DIAPH1 gene in a Korean family with autosomal dominant nonsyndromic hearing loss.
Kang TH et al.
Genes & Genetic Systems, 2017
[An investigation of SLC26A4 gene mutation in nonsydromic hearing impairment in Hunan province of China].
Jiang L et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2010
Two novel missense mutations in the TECTA gene in Korean families with autosomal dominant nonsyndromic hearing loss.
Sagong B et al.
Annals of Clinical and Laboratory Science, 2010
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