A novel missense variant in the <i>DIAPH1</i> gene in a Korean family with autosomal dominant nonsyndromic hearing loss-Reference-Cited by-同舟云学术

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A novel missense variant in the DIAPH1 gene in a Korean family with autosomal dominant nonsyndromic hearing loss

Published:2016 Issue:5 Volume:91 Page:289-292
ISSN:1341-7568
Container-title:Genes & Genetic Systems
language:en
Short-container-title:Genes Genet. Syst.

Author:

Kang Tae-Hun¹²,Baek Jeong-In³,Sagong Borum¹,Park Hong-Joon⁴,Park Chan Ik³,Lee Kyu-Yup⁵,Kim Un-Kyung¹²

Affiliation:

1. Department of Biology, College of Natural Sciences, Kyungpook National University

2. School of Life Sciences, BK21 Plus KNU Creative BioResearch Group, Kyungpook National University

3. Department of Aroma Applied Industry, College of Herbal Bio-industry, Daegu Haany University

4. Soree Ear Clinics

5. Department of Otorhinolaryngology–Head and Neck Surgery, School of Medicine, Kyungpook National University

Publisher

Genetics Society of Japan

Subject

Genetics,Molecular Biology,General Medicine

Link

https://www.jstage.jst.go.jp/article/ggs/91/5/91_16-00041/_pdf

Reference19 articles.

1. Baek, J. I., Oh, S. K., Kim, D. B., Choi, S. Y., Kim, U. K., Lee, K. Y., and Lee, S. H. (2012) Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families. Orphanet J. Rare Dis. 7, 60.

2. Breneman, K. D., Brownell, W. E., and Rabbitt, R. D. (2009) Hair cell bundles: flexoelectric motors of the inner ear. PLoS One 4, e5201.

3. Evangelista, M., Zigmond, S., and Boone, C. (2003) Formins: signaling effectors for assembly and polarization of actin filaments. J. Cell Sci. 116, 2603–2611.

4. Frolenkov, G. I., Belyantseva, I. A., Friedman, T. B., and Griffith, A. J. (2004) Genetic insights into the morphogenesis of inner ear hair cells. Nat. Rev. Genet. 5, 489–498.

5. Harbury, P. B., Zhang, T., Kim, P. S., and Alber, T. (1993) A switch between two-, three-, and four-stranded coiled coils in GCN4 leucine zipper mutants. Science 262, 1401–1407.

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1. DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans;Journal of Clinical Immunology;2024-08-09

2. Monogenic Causes of Low-Frequency Non-Syndromic Hearing Loss;Audiology and Neurotology;2023

3. Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss;Cells;2022-05-24

4. Late‐onset hearing loss case associated with a heterozygous truncating variant of DIAPH1 ;Clinical Genetics;2022-02-02

5. Formins in Human Disease;Cells;2021-09-27

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