Results 51 to 60 of about 334 (109)

Mutation in second exon of myo15a gene cause of nonsyndromic hearing loss and its association in the Arab population in Iran [PDF]

, 2016
Hearing loss is a genetically and clinically heterogeneous defect and more than 140 loci and 65 genes have been identified to cause autosomal recessive non-syndromic hearing loss (ARNSHL).
Asgharzadeh, Samira., Tabatabaiefar, Mohammad Amin., Reisi, Somayeh, Modarressi, Mohammad Hossein., Hashemzadeh-Chaleshtori, Morteza.   +4 more
core   +2 more sources

Variant analysis of 92 Chinese Han families with hearing loss

BMC Medical Genomics, 2022
Background Hearing loss (HL) is the most frequent sensory deficit in humans, HL has strong genetic heterogeneity. The genetic diagnosis of HL is very important to aid treatment decisions and to provide prognostic information and genetic counseling for ...
Xiaohua Jin, Shasha Huang, Lisha An, Chuan Zhang, Pu Dai, Huafang Gao, Xu Ma   +6 more
doaj   +1 more source

Treating Hearing Loss: From Cochlear Implantation to Gene Therapy

Advanced Science, Volume 12, Issue 41, November 6, 2025.
Cochlear implantation is the primary treatment for deafness, restoring functional hearing in over a million people. Recently, gene therapy has enabled biological hearing restoration in a small number of patients with OTOF‐related mutations. This perspective evaluates both approaches, concluding that cochlear implants will remain the standard for most ...
Fan‐Gang Zeng, Jieyu Qi, Chen‐Chi Wu, Yilai Shu, Renjie Chai   +4 more
wiley   +1 more source

Shared genes and pathways in dementia: Insights from genome‐wide association studies

Alzheimer's &Dementia, Volume 21, Issue 11, November 2025.
Abstract Dementia, a collective term for neurodegenerative disorders marked by cognitive decline, affects millions worldwide, and is expected to rise significantly in prevalence. Genome‐wide association studies (GWASs), as highlighted in this review, have revolutionized our understanding of dementia by identifying contributing genetic loci and pathways,
Kyle J. Loi, Noah Radtke, Chloe Kiriluk, Mohamed H. Noureldein, Eva L. Feldman, Kelly M. Bakulski, Kevin S. Chen   +6 more
wiley   +1 more source

MtDNA‐depleted neuronal cell transcriptomes reveal Alzheimer's disease‐related changes

Alzheimer's &Dementia, Volume 21, Issue 11, November 2025.
Abstract INTRODUCTION We determined whether mitochondrial DNA (mtDNA) depletion induced Alzheimer's disease (AD)‐relevant transcription changes. METHODS Following RNA sequencing (RNA‐seq), we identified differentially expressed genes (DEGs) between SH‐SY5Y or NT2 mtDNA‐depleted (ρ0) and intact (ρ+) cell lines and quantified concordant DEG changes. Gene
Blaise W. Menta, Emily Schueddig, Amol Ranjan, Yanming Li, Shea J. Andrews, Heather M. Wilkins, Dong Pei, Russell H. Swerdlow   +7 more
wiley   +1 more source

The Diverse Genetic Landscape of Hearing Impairment in South African Families

Clinical Genetics, Volume 108, Issue 5, Page 511-520, November 2025.
South African Families with Nonsyndromic (N = 24) and Syndromic Hearing Impairment (N = 21) with ≥ 2 affected members were analyzed. The underlying etiology was uncovered using exome and Sanger sequencing for 31 of these families. ABSTRACT To elucidate the genetic etiology of hearing impairment (HI) in South Africa, 45 nonsyndromic HI (NSHI) and ...
Thashi Bharadwaj, Anushree Acharya, Noluthando Rearabetswe Manyisa, Elvis Twumasi Aboagye, Ramses Peigou Wonkam, Lettilia Xhakaza, Kalinka Popel, Carmen de Kock, Isabelle Schrauwen, Ambroise Wonkam, Suzanne M. Leal   +10 more
wiley   +1 more source

Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes

Orphanet Journal of Rare Diseases, 2022
Background Heterogeneous genetic loci contribute to hereditary hearing loss; more than 100 deafness genes have been identified, and the number is increasing.
Hideki Mutai, Yukihide Momozawa, Yoichiro Kamatani, Atsuko Nakano, Hirokazu Sakamoto, Tetsuya Takiguchi, Kiyomitsu Nara, Michiaki Kubo, Tatsuo Matsunaga   +8 more
doaj   +1 more source

Adeno‐associated virus‐based rescue of Myo7a expression restores hair‐cell function and improves hearing thresholds in a USH1B mouse strain

The Journal of Physiology, Volume 603, Issue 22, Page 7171-7188, November 15, 2025.
Abstract figure legend Shaker‐1 mice, a murine model of Usher 1B syndrome, carry a mutation in the unconventional myosin MYO7A. This results in the progressive loss of the two shortest rows of stereocilia that house the mechanoelectrical transducer (MET) channels in hair cells, leading to deafness shortly after hearing onset.
Ana E. Amariutei, Samuel Webb, Adam J. Carlton, Andrew O'Connor, Anna Underhill, Jing‐Yi Jeng, Sarah A. Hool, Alice Zanella, Matthew Hool, Marie‐José Lecomte, Stuart L. Johnson, Saaid Safieddine, Walter Marcotti   +12 more
wiley   +1 more source

Different Contribution of Missense and Loss‐of‐Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease

MedComm, Volume 6, Issue 10, October 2025.
This study examines the genetic basis of sporadic (SMD) and familial Meniere disease (FMD) by comparing rare protein‐coding variants using exome sequencing and gene burden analysis. FMD patients had a higher accumulation of missense and LoF variants, especially in genes linked to auditory and vestibular function.
Alberto M. Parra‐Perez, Alvaro Gallego‐Martinez, Alba Escalera‐Balsera, Paula Robles‐Bolivar, Patricia Perez‐Carpena, Jose A. Lopez‐Escamez   +5 more
wiley   +1 more source

Limited Utility of Existing Hearing Loss Panels in the Assessment of Early‐Onset, Bilateral Meniere's Disease

OTO Open, Volume 9, Issue 4, October-December 2025.
Abstract Objective While the etiology of Meniere's disease (MD) is likely multifactorial, genetics are thought to play a role. Several previous studies have yielded inconclusive results, potentially due to phenotypic uncertainty and variable diagnostic criteria.
Keshav V. Shah, Christian Jung, Daniel Talian, Sherrie Davis, Douglas J. Epstein, Michael J. Ruckenstein, Tiffany P. Hwa   +6 more
wiley   +1 more source