Results 41 to 50 of about 334 (109)

Molekulargenetische Diagnostik im MYO15A Gen - Phänotyp-Genotyp Korrelation und Ergebnisse nach Cochlea Implantation

, 2016
Einleitung: Bisher wurden 42 Gene mit ursächlichen Mutationen für eine autosomal rezessive nicht-syndromale Schwerhörigkeit beschrieben. Die Ausprägung des Phänotyps autosomal rezessiv vererbter Schwerhörigkeit (Hörvermögen, Beginn, Progredienz ...
Braun, K, Biskup, S, Tropitzsch, A, Friese, N, Dofek, S, Fehr, S   +5 more
core   +1 more source

Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population‐Specific Variants and Clinical Correlations

Clinical Genetics, Volume 110, Issue 2, Page 210-226, August 2026.
The Burden: Hearing loss (HL) is the most prevalent sensory disorder globally, affecting 1.5 million individuals in Brazil. The Gap: While > 150 genes are linked to HL, the genetic architecture in underrepresented populations like Brazil is poorly defined. The Problem: This lack of data limits diagnostic yield and the application of precision medicine.
Stella Diogo‐Cavassana, Danillo Alencar‐Coutinho, Rafaella Abreu‐Oberhuber, Maria Eduarda Paramo‐Neto, Jeanne Oiticica, Ricardo Ferreira Bento, Ana Carla Batissoco, Karina Lezirovitz   +7 more
wiley   +1 more source

Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF

BMC Medical Genetics, 2020
Background Hearing loss (HL) represents the most common congenital sensory impairment with an incidence of 1–5 per 1000 live births. Non-syndromic hearing loss (NSHL) is an isolated finding that is not part of any other disorder accounting for 70% of all
Athar Khalil, Samer Bou Karroum, Rana Barake, Gabriel Dunya, Samer Abou-Rizk, Amina Kamar, Georges Nemer, Marc Bassim   +7 more
doaj   +1 more source

A Brain‐Targeting Curcumin Analog Inhibits Glioblastoma Progression Through THBS1/TGF‐β1/PI3K–AKT Axis Modulation: Evidence From Experimental and Bioinformatic Analyses

Journal of Cellular and Molecular Medicine, Volume 30, Issue 5, March 2026.
ABSTRACT Glioblastoma (GBM) is the most aggressive primary brain tumour, associated with a dismal prognosis and an urgent need for innovative therapeutic strategies. To address this challenge, our group developed DMC‐GF, a novel brain‐targeted curcumin analog engineered to enhance blood–brain barrier permeability by blocking metabolic sites and ...
Zijian Han, Xuetao Li, Yang Zhu, Zhimin Wang, Yingbo Hou, Huiling Tao, Meng Ma, Xiangtong Xie, HaiYang Zhang   +8 more
wiley   +1 more source

Report of a Novel Splicing Mutation in the Gene in a Patient With Sensorineural Hearing Loss and Spectrum of the Mutations

Clinical Medicine Insights: Case Reports, 2019
Introduction: Autosomal recessive non-syndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder with an approximate incidence of 1.4:1000 in neonates. Mutations in more than 60 genes including the MYO15A gene has been reported
Elinaz Akbariazar, Ali Vahabi, Isa Abdi Rad   +2 more
doaj   +1 more source

Myosin 7a is required for maintaining the transducing stereocilia and for force transmission to the MET channel during cochlear hair cell development

The Journal of Physiology, Volume 604, Issue 5, Page 2152-2175, 1 March 2026.
Abstract figure legend Developmental changes in the hair‐bundle structure of outer hair cells (OHCs) and inner hair cells (IHCs) were examined in control and shaker‐1 mutant (Myo7aSh1/Sh1) mice, which carry a spontaneous missense mutation in the Myo7a gene that produces a non‐functional MYO7A protein.
Anna Underhill, Samuel Webb, Fiorella C. Grandi, Adam J. Carlton, Jing‐Yi Jeng, Stuart L. Johnson, Corné J. Kros, Walter Marcotti   +7 more
wiley   +1 more source

The CI patient with MYO15A mutations.

, 2013
A: The patient has compound heterozygous MYO15A mutations (c.[9478C>T]; [1179_1185insC]), and the parents were found to be carriers for these mutations. B: COR audiogram finding (1y 6 m).
Takuo Ikeda (468876), Kunihiro Fukushima (385883), Maiko Miyagawa (311859), Shin-ya Nishio (181068), Shin-ichi Usami (181067)   +4 more
core   +1 more source

Effects of genetic correction on the differentiation of hair cell-like cells from iPSCs with MYO15A mutation [PDF]

, 2016
Deafness or hearing loss is a major issue in human health. Inner ear hair cells are the main sensory receptors responsible for hearing. Defects in hair cells are one of the major causes of deafness.
J-R Chen, J-Z Shao, M-X Guan, X-D Qian, Chen, J-R, Li, L, J-L Chen, Wang, J-F, C-C Wang, J-F Wang, Zheng, J, Chen, J-L, S-K Yin, J-Z Chen, L Li, Huang, T-S, Chen, P, Z-H Tang, P Chen, Guan, M-X, Chen, J-Z, J Ding, Tang, Z-H, Ding, J, Shao, J-Z, H-S Shi, C Zhang, T-S Huang, Shi, H-S, Zhang, C, J Zheng, Yin, S-K, Qian, X-D, Wang, C-C   +33 more
core   +1 more source

Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children

Neural Plasticity, 2021
Genetic testing is the gold standard for exploring the etiology of congenital hearing loss. Here, we enrolled 137 Chinese patients with congenital hearing loss to describe the molecular epidemiology by using 127 gene panel testing or 159 variant testing.
Le Xie, Yue Qiu, Yuan Jin, Kai Xu, Xue Bai, Xiao-Zhou Liu, Xiao-Hui Wang, Sen Chen, Yu Sun   +8 more
doaj   +1 more source

Ethnic‐specific effects of the LILRB2–LILRB5 locus and newly identified risk loci for Alzheimer's disease in the East Asian population

Alzheimer's &Dementia, Volume 22, Issue 2, February 2026.
Abstract INTRODUCTION Genome‐wide association studies have identified numerous Alzheimer's disease (AD) susceptibility loci in European populations. However, the genetic architecture of AD in non‐European populations remains underinvestigated. METHODS We performed a genetic association study in East Asians (N = 8514) to validate known AD loci and ...
Han Cao, Ziyu Zheng, Xiaopu Zhou, Masataka Kikuchi, Hiu Yi Wong, Elaine Y. L. Cheng, Bonnie W. Y. Wong, Ronnie M. N. Lo, Maryam Shoai, Joyce R. Chong, Andrew L. T. Chan, Christopher Chen, Linda C. W. Lam, Vincent C. T. Mok, Timothy C. Y. Kwok, Japanese Alzheimer's Disease Neuroimaging Initiative, Alzheimer's Disease Neuroimaging Initiative, Yu Chen, Fanny C. F. Ip, Kin Y. Mok, Akinori Miyashita, Takeshi Ikeuchi, John Hardy, Amy K. Y. Fu, Nancy Y. Ip   +24 more
wiley   +1 more source