Results 31 to 40 of about 334 (109)

Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss

Scientific Reports, 2021
The genetic heterogeneity of sensorineural hearing loss (SNHL) is a major hurdle to the detection of disease-causing variants. We aimed to identify underlying causal genes associated with mid-frequency hearing loss (HL), which contributes to less than ...
Zuzana Pavlenkova, Lukas Varga, Silvia Borecka, Miloslav Karhanek, Miloslava Huckova, Martina Skopkova, Milan Profant, Daniela Gasperikova   +7 more
doaj   +1 more source

Recurrent and Private MYO15A Mutations Are Associated with Deafness in the Turkish Population

, 2010
The identities and frequencies of MYO15A mutations associated with hearing loss in different populations remained largely unknown. We screened the MYO15A gene for mutations in 104 unrelated multiplex and consanguineous Turkish families with autosomal ...
Yvonne J.K. Edwards, Duman, Duygu, Liu, Xue Z, Hilal Özdaḡ, Erbek, Seyra, Tokgöz-Yilmaz, Suna, Sırmacı, Aslı, Suna Tokgöz-Yilmaz, İncesulu, Armaḡan, OZTUKMEN-AKAY, Hatice, Cengiz, F. Basak, Edwards, Yvonne J. K., Edwards, Yvonne J.K, Armaḡan İncesulu, Özdaḡ, Hilal, Tekin, Mustafa, Sirmaci, Asli, Seyra Erbek, Xue Z. Liu, F. Basak Cengiz, Duygu Duman, Öztürkmen-Akay, Hatice, Liu, Xue Z., Aslı Sırmacı, Hatice Öztürkmen-Akay, Mustafa Tekin   +25 more
core   +1 more source

Molecular etiology study of hearing loss in 13 Chinese Han families

Frontiers in Neurology, 2022
Hearing loss affecting about 2/1000 newborns is the most common congenital disease. Genetic defects caused approximately 70% of patients who have non-syndromic hearing loss.
Lianhua Sun, Lianhua Sun, Lianhua Sun, Zhengyu Lin, Zhengyu Lin, Zhengyu Lin, Xiaowen Wang, Xiaowen Wang, Xiaowen Wang, Jiali Shen, Jiali Shen, Jiali Shen, Yue Li, Yue Li, Yue Li, Yuyu Huang, Yuyu Huang, Yuyu Huang, Jun Yang, Jun Yang, Jun Yang   +20 more
doaj   +1 more source

Targeted next-generation sequencing in Uyghur families with non-syndromic sensorineural hearing loss. [PDF]

PLoS ONE, 2015
The mutation spectrum of deafness genes may vary in different ethnical groups. In this study, we investigated the genetic etiology of nonsyndromic deafness in four consanguineous and two multiplex Uyghur families in which mutations in common deafness ...
Ying Chen, Zhentao Wang, Zhaoyan Wang, Dongye Chen, Yongchuan Chai, Xiuhong Pang, Lianhua Sun, Xiaowen Wang, Tao Yang, Hao Wu   +9 more
doaj   +1 more source

Identification and Clinical Implications of a Novel MYO15A Variant in a Consanguineous Iranian Family by Targeted Exome Sequencing [PDF]

, 2019
BACKGROUND AND OBJECTIVES: Hereditary hearing loss (HL) is known by a very high genetic heterogeneity, which makes a molecular diagnosis problematic. Next-generation sequencing (NGS) is a new strategy that can overcome this problem.
Saki, N, Nemati-Zargaran, F, Hashemzadeh-Chaleshtori, M, Mohammadi-Asl, J, Taghipour-Sheshdeh, A, Zarepour, N, Koohiyan, M, Tabatabaiefar, M   +7 more
core   +4 more sources

Selective binding and transport of protocadherin 15 isoforms by stereocilia unconventional myosins in a heterologous expression system

Scientific Reports, 2022
During hair cell development, the mechanoelectrical transduction (MET) apparatus is assembled at the stereocilia tips, where it coexists with the stereocilia actin regulatory machinery.
Angela Ballesteros, Manoj Yadav, Runjia Cui, Kiyoto Kurima, Bechara Kachar   +4 more
doaj   +1 more source

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border

Clinical Genetics, EarlyView.
Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart, Michelle Gray, Roberta Sierra, Camille Maldonado, Daniel Brooks, Hongzheng Dai, Aaly Rahimtoola, Sandy Magallan, Sarah Rodriguez, Jose Gamez, Pattie Rosenlund, Surya N. Mulukutla, Alberto Allegre, Lori Berry, Brendan Lee, Daryl A. Scott, Blake Vuocolo, Seema R. Lalani   +17 more
wiley   +1 more source

The effect of the Arg1956Trp mutation in the IQ3 domain of MYO15A on stereocilia formation and hearing loss

, 2022
By 2030, it is predicted that 2.5 billion people around the world will live with hearing loss. One of the primary causes of hearing loss and deafness is irregular stereocilia formation within the hair cells of the inner ear.
Krupp, Lilly
core   +1 more source

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss. [PDF]

PLoS ONE, 2015
Comprehensive genetic testing has the potential to become the standard of care for individuals with hearing loss. In this study, we investigated the genetic etiology of autosomal recessive nonsyndromic hearing loss (ARNSHL) in a Turkish cohort including ...
Tahir Atik, Huseyin Onay, Ayca Aykut, Guney Bademci, Tayfun Kirazli, Mustafa Tekin, Ferda Ozkinay   +6 more
doaj   +1 more source

Whole Exome Sequencing Identified a Novel Mutation in the LOXHD1 Gene in Consanguineous Iranian Families With Hearing Loss

Journal of Clinical Laboratory Analysis, Volume 40, Issue 18, September 2026.
Whole exome sequencing in a consanguineous Iranian family with autosomal recessive non‐syndromic hearing loss revealed a novel homozygous frameshift mutation, c.3713dupA (p.Asp1238Glufs*10), in the LOXHD1 gene. This mutation, located in exon 24, results in a premature stop codon and a truncated protein. Sanger sequencing confirmed co‐segregation of the
Solmaz Hassani Fard Katiraei, Milad Gholami, Mohsen Soosanabadi, Mona Entezam, Seyed Alireza Dastgheib   +4 more
wiley   +1 more source