Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss-Reference-Cited by-同舟云学术

Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss

Published:2020-11-18 Issue:12 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol. Genet. Genomic Med.

Author:

Zardadi Safoura¹,Razmara Ehsan²^ORCID,Asgaritarghi Golareh³,Jafarinia Ehsan²^ORCID,Bitarafan Fatemeh⁴^ORCID,Rayat Sima¹,Almadani Navid⁵,Morovvati Saeid⁶,Garshasbi Masoud²^ORCID

Affiliation:

1. Department of Biology School of Basic Sciences, Science and Research Branch Islamic Azad University Tehran Iran

2. Department of Medical Genetics Faculty of Medical Sciences Tarbiat Modares University Tehran Iran

3. Department of Genetics Faculty of Biological Sciences Tarbiat Modares University Tehran Iran

4. Department of Cellular and Molecular Biology North Tehran Branch Islamic Azad University Tehran Iran

5. Department of Genetics Reproductive Biomedicine Research Center Royan Institute for Reproductive BiomedicineACECR Tehran Iran

6. Department of Genetics Faculty of Advanced Sciences and Technology Tehran Medical SciencesIslamic Azad University Tehran Iran

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1550

Reference81 articles.

1. Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2

2. Genomic Landscape and Mutational Signatures of Deafness-Associated Genes

3. Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

4. A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family.

5. Structural relationship between the putative hair cell mechanotransduction channel TMC1 and TMEM16 proteins

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3. High-Frequency Hearing Is Required to Compute a Topographic Map of Auditory Space in the Mouse Superior Colliculus;eneuro;2022-04-26

4. Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss;Human Genetics;2022-01-12

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