Results 61 to 70 of about 334 (109)

Additional file 3: of Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss

, 2019
Table S2. Variants of MYO15A detected in this study.
Dayong Wang (139014), Hongyang Wang (18388), Linwei Yin (6201410), Lidong Zhao (580657), Qiuju Wang (7400), Jing Zhang (23775), Jing Guan (335452), Huifang Zhou (5799005)   +7 more
core   +1 more source

Multi‐ancestry meta‐analysis identifies genetic modifiers of age‐at‐onset of Alzheimer's disease at known and novel loci

Alzheimer's &Dementia, Volume 21, Issue 9, September 2025.
Abstract INTRODUCTION Much of Alzheimer's disease (AD) risk is explained by age, apolipoprotein E (APOE) genotype, and sex. We sought to identify genetic modifiers of age at onset (AAO) of AD while probing the influence of sex and APOE among those with diverse ancestry.
Elizabeth E. Blue, Jai Broome, Diane Xue, Hanley Kingston, Nicola H. Chapman, Stephanie Gogarten, Alzheimer's Disease Genetics Consortium (ADGC), Adam C. Naj, Ellen M. Wijsman   +8 more
wiley   +1 more source

Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil

, 2016
Summary Identifying the genetic etiology in a person with hearing loss (HL) is challenging due to the extreme genetic heterogeneity in HL and the population‐specific variability.
Tekin, Mustafa, Sanchez‐Pena, Isalis, Blanton, Susan H., Acosta, Angelina X., Menendez, Ibis, Abe‐Sandes, Kiyoko, Da Silva, Danniel S. Dias, Bademci, Guney, Acosta, Angelina X, Blanton, Susan H, Sanchez-Pena, Isalis, Abe-Sandes, Kiyoko, Cengiz, FİLİZ BAŞAK, Felix, Temis M., Manzoli, Gabrielle N, Cengiz, F.Basak, Liu, Xue Zhong, Tekin, Demet, Foster, Joseph, Félix, Têmis M, Manzoli, Gabrielle N.   +20 more
core   +1 more source

Ancestral genomic functional differences in oligodendroglia: implications for Alzheimer's disease

Alzheimer's &Dementia, Volume 21, Issue 9, September 2025.
Abstract INTRODUCTION This study investigates ancestry‐specific changes in induced pluripotent stem cell (iPSC)‐derived oligodendroglia genomic regulation in Alzheimer's disease (AD), addressing diversity gaps by including African, Amerindian, and European ancestries in the analysis. METHODS We generated 12 iPSC lines from AD patients and controls with
Aura M. Ramirez, Luciana Bertholim Nasciben, Sofia Moura, Lauren Coombs, Farid Rajabli, Brooke A. DeRosa, Patrice L. Whitehead, Larry D. Adams, Takiyah D. Starks, Pedro R. Mena, Maryenela Illanes‐Manrique, Sergio Tejada, Goldie S. Byrd, Allison Caban‐Holt, Michael L Cuccaro, Katalina McInerney, Mario R. Cornejo‐Olivas, Briseida E. Feliciano‐Astacio, Liyong Wang, Maria C. Robayo, Wanying Xu, Fulai Jin, Margaret A. Pericak‐Vance, Anthony J. Griswold, Juan I. Young, Derek M. Dykxhoorn, Jeffery M. Vance   +26 more
wiley   +1 more source

REGULATION OF HAIR BUNDLE ARCHITECTURE THROUGH MYO15A-DEPENDENT STEREOCILIA REMODELING AND TIP LINK PLASTICITY

Auditory hair cells detect sound through highly organized, staircase-shaped bundles of actin protrusions known as stereocilia. The mechanical deflection of the hair bundle increases the tension in extracellular connectors known as tip links.
Lopez-Porras, Ana I.
core   +1 more source

Additional file 2: of Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss

, 2019
Figure S1. Pedigrees of the families carried MYO15A variants.
Dayong Wang (139014), Hongyang Wang (18388), Linwei Yin (6201410), Lidong Zhao (580657), Qiuju Wang (7400), Jing Zhang (23775), Jing Guan (335452), Huifang Zhou (5799005)   +7 more
core   +1 more source

Mutation screening in non-syndromic hearing loss patients with cochlear implantation by massive parallel sequencing in Taiwan.

PLoS ONE, 2019
OBJECTIVES:To explore the molecular epidemiology of rare deafness genes in Taiwanese sensorineural hearing impairment (SNHI) patients with cochlear implantation (CI) by performing massive parallel sequencing (MPS) and correlating genetic factors and CI ...
Wei-Hsiu Liu, Pi-Yueh Chang, Shih-Cheng Chang, Jang-Jih Lu, Che-Ming Wu   +4 more
doaj   +1 more source

Is CABP2‐Associated Hearing Loss (DFNB93) a Gene Therapy Target? Preclinical Progress and Patient Registry

MedComm, Volume 6, Issue 9, September 2025.
The intended aims and benefits of the CABP2 Patient Registry. ABSTRACT CABP2 modulates presynaptic CaV1.3 Ca2+ channel function in inner hair cells (IHCs) and is required for indefatigable synaptic sound encoding. Biallelic variants in CABP2 are associated with non‐syndromic hearing loss (DFNB93).
Barbara Vona, Bernd Wollnik, Nicola Strenzke, Tina Pangršič, Tobias Moser   +4 more
wiley   +1 more source

A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman

, 2017
The increased risk for autosomal recessive disorders is one of the most well-known medical implications of consanguinity. In the Sultanate of Oman, a country characterized by one of the highest rates of consanguineous marriages worldwide, prevalence of ...
Cucca, Francesco, Kindi, Mohammed Nasser Al, Oppo, Manuela, Benelli, Matteo, Al Khabori, Mazin, Romeo, G., Magi, Alberto, Al Wardy, N, GIANGREGORIO, TANIA, GNECCHI RUSCONE, GUIDO ALBERTO, Giangregorio, T, Palombo, Flavia, Girotto, G, Sazzini, M, Magi, A, Benelli, M, Gasparini, P, Palombo, F, Al Lamki, Khalsa, Seri, Marco, GIROTTO, GIORGIA, GASPARINI, PAOLO, Pippucci, T, Seri, M, Pippucci, Tommaso, Kindi, M. N. A, Ruscone, Guido Alberto Gnecchi, Angius, Andrea, Sazzini, Marco, Ruscone, G. A. G, Al Lamki, K, Al Khabori, M, ROMEO, GIOVANNI, Al Wardy, Nadia   +33 more
core   +1 more source

Advances in Microfluidic Cochlea‐On‐A‐Chip

Advanced Science, Volume 12, Issue 29, August 7, 2025.
This review systematically examines diverse cell sources for inner ear organoids and outlines stepwise induction protocols. Furthermore, it discusses current applications and prospective developments of cochlea‐on‐a‐chip technologies in areas such as deafness modeling, mechanistic studies, and drug evaluation, with particular focus on gene‐therapy drug
Tian Shen, Shanying Han, Weiwei He, Wen Yang, Xinghua Tang, Xiaolong Zhao, Xinghong Liu, Zhenhua Shao, Lin Cheng, Yu Zhao, Jiangang Fan   +10 more
wiley   +1 more source