Results 91 to 100 of about 334 (109)

Diagnostic yield of whole exome sequencing with targeted gene analysis in prelingual sensorineural hearing loss in Thailand

Scientific Reports
Prelingual sensorineural hearing loss (SNHL) represents about 80% of genetic SNHL, with at least 90 causative genes identified. In order to identify the genetic diagnosis of prelingual SNHL, we performed a prospective study by systematic history-taking ...
Tasyakorn Damrongchietanon, Duangrurdee Wattanasirichaigoon, Arthaporn Khongkraparn, Saisuda Noojarern, Rattinan Tiravanitchakul, Nittaya Kasemkosin, Sivaporn Kiatthanabumrung, Thipwimol Tim-Aroon, Parith Wongkittichote   +8 more
doaj   +1 more source

A Myosin Nanomotor Essential for Stereocilia Maintenance Exp 1 ands the Etiology of 2 Hereditary Hearing Loss DFNB3

Cochlear hair cells transduce sound using stereocilia, and disruption to these delicate mechanosensors is a significant cause of hearing loss. Stereocilia architecture is dependent upon the nanomotor myosin 15.
Bird, Jonathan E., Kim, Mi-Jung, Hadi, Shadan, Perrin, Benjamin, Someya, Shinichi, Behnammanesh, Ghazaleh, Liao, Xiayi, Dragich, Abigail K., Frolenkov, Gregory I.   +8 more
core   +1 more source

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss

Scientific Reports
Hearing loss affects around 5% of the global population. Two preliminary studies have described genetic variants in sporadic individuals with hearing loss from Pakistan.
Hina Khan, Fariha Muzaffar, Midhat Salman, Rasheeda Bashir, Go Hun Seo, Sadaf Naz   +5 more
doaj   +1 more source

MYO15A Gene

, 2020

core   +1 more source

Mutational spectrum ofMYO15A: the large N-terminal extension of myosin XVA is required for hearing

Human Mutation, 2007
Human MYO15A is located on chromosome 17p11.2, has 66 exons and encodes unconventional myosin XVA. Recessive mutations of MYO15A are associated with profound, nonsyndromic hearing loss DFNB3 in humans, and deafness and circling behavior in shaker 2 mice.
Ali Muhammad Waryah, Özgül Alper, Robert J Morell   +2 more
exaly   +2 more sources

MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation [PDF]

American Journal of Medical Genetics, Part A, 2007
Contains fulltext : 34519.pdf (Publisher’s version ) (Closed access)Myosin XVA is an unconventional myosin which has been implicated in autosomal recessive nonsyndromic hearing impairment (ARNSHI) in humans.
Hans C Hennies, Hannie Kremer, Ersan Kalay   +2 more
exaly   +3 more sources

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Investigation of MYO15A and MYO7A Mutations in Iranian Patients with Nonsyndromic Hearing Loss

Fetal and Pediatric Pathology, 2021
Majid Mojarrad, Mohsen Rajati, Mahsa Farjami   +2 more
exaly  

Identification of novel compound heterozygous mutations of the MYO15A gene with autosomal recessive non‐syndromic hearing loss

Journal of Clinical Laboratory Analysis, 2022
Luming Wang
exaly  

PNPT1 , MYO15A , PTPRQ , and SLC12A2 ‐associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India

Annals of Human Genetics, 2022
Jeffrey Justin Margrét, Zippora Brownstein, Noam Shomron   +2 more
exaly  

Whole-Exome Sequencing Identifies a Recurrent Small In-Frame Deletion in MYO15A Causing Autosomal Recessive Nonsyndromic Hearing Loss in 3 Iranian Pedigrees

Laboratory Medicine, 2022
Hamidreza Abtahi, Mohammad Amin Tabatabaiefar   +1 more
exaly