Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
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
Hearing loss occurs prior to thrombocytopenia in both mice and humans with DFNA1.
Kurasawa S et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025
Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria.
Frohne A et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2024
Disruption of the productive encounter complex results in dysregulation of DIAPH1 activity.
Theophall GG et al.
The Journal of Biological Chemistry, 2023
Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes.
Carlson RJ et al.
Jama Otolaryngology-- Head & Neck Surgery, 2023
An Extended Iranian Family with Autosomal Dominant Non-syndromic Hearing Loss Associated with A Nonsense Mutation in the DIAPH1 Gene.
Mohseni M et al.
Archives of Iranian Medicine, 2023
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
Building platelet phenotypes: Diaphanous-related formin 1 (DIAPH1)-related disorder.
Rabbolini D et al.
Platelets, 2022
Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores.
Miyoshi T et al.
Human Genetics, 2022
Late-onset hearing loss case associated with a heterozygous truncating variant of DIAPH1.
Kim BJ et al.
Clinical Genetics, 2022
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Tran Mau-Them F et al.
Molecular Genetics & Genomic Medicine, 2021
Variable Autoinhibition among Deafness-Associated Variants of Diaphanous 1 (DIAPH1).
Lakha R et al.
Biochemistry, 2021
DIAPH1 Mutation as a Novel Cause of Autosomal Dominant Macrothrombocytopenia and Hearing Loss.
Karki NR et al.
Acta Haematologica, 2021
The integrity of cochlear hair cells is established and maintained through the localization of Dia1 at apical junctional complexes and stereocilia.
Ninoyu Y et al.
Cell Death & Disease, 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
New insights into cytoskeletal remodeling during platelet production.
Ghalloussi D et al.
Journal of Thrombosis and Haemostasis : Jth, 2019
Management of pregnancy for a patient with the new syndromic macrothrombocytopenia, DIAPH1-related disease.
Nurden P et al.
Platelets, 2018
Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder.
Westbury SK et al.
Blood Advances, 2018
Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.
Bastida JM et al.
Haematologica, 2018
Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease.
Ganaha A et al.
American Journal of Medical Genetics. Part A, 2017
Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1).
Neuhaus C et al.
Clinical Genetics, 2017
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
Stritt S et al.
Blood, 2016
Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients.
Iwasa YI et al.
Plos One, 2016
[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
Exploring DIAPH1 gene mutations in patients with sensorineural hearing loss of unknown etiology in Northern Spain.
González-Aguado R et al.
Acta Otorrinolaringologica Espanola, 0