Results 41 to 50 of about 1,850 (127)

Role of DFNB1 mutations in hereditary hearing loss among assortative mating hearing impaired families from South India

BMC Medical Genetics, 2018
Background DFNB1, the first locus to have been associated with deafness, has two major genes GJB2 & GJB6, whose mutations have played vital role in hearing impairment across many ethnicities in the world.
Pavithra Amritkumar, Justin Margret Jeffrey, Jayasankaran Chandru, Paridhy Vanniya S, M. Kalaimathi, Rajagopalan Ramakrishnan, N. P. Karthikeyen, C. R. Srikumari Srisailapathy   +7 more
doaj   +1 more source

Rapid Human Skin Barrier Disruption by Sodium Dodecyl Sulfate and Associated Molecular Mechanisms

Allergy, Volume 81, Issue 7, Page 2478-2489, July 2026.
Short‐term exposure to SDS rapidly disrupts human skin barrier integrity within minutes, as detected by real‐time electrical impedance spectroscopy. SDS‐induced barrier dysfunction is driven by oxidative stress, leading to suppression of immune/barrier mediators and activation of stress, lipid remodeling, and epidermal differentiation pathways ...
Manru Li, Huseyn Babayev, Paolo D'Avino, Can Zeyneloğlu, Ceren Bicer, Duygu Yazici, Yagiz Pat, Per Svedenhag, Nicolas Gaudenzio, Cezmi A. Akdis, Yasutaka Mitamura   +10 more
wiley   +1 more source

Two‐Year Follow‐Up of Ectodermal Dysplasia‐Syndactyly Syndrome 1 in a Palestinian Child Successfully Treated With Topical Minoxidil and Tretinoin: A Case Report

Clinical Case Reports, Volume 14, Issue 6, June 2026.
Clinical timeline of the reported EDSS1 case, illustrating disease onset, diagnostic milestones, treatment initiation, treatment modifications, and longitudinal response to combined topical minoxidil and tretinoin therapy from infancy through the last follow‐up.
Bana O. Aburajab, Hamza M. A. Ghaith, Nada Ishti, Muawia O. Aburajab   +3 more
wiley   +1 more source

Frecuencia de mutaciones en el gen GJB2, GJB6, OTOF Y 12SrRNA asociadas con sordera no-sindromica autosomica recesiva en una población colombiana

Iatreia, 2010
La sordera es uno de los defectos más comunes de nacimiento, uno de cada 1000 recién nacidos presenta sordera neurosensorial. En 50-60% de los casos, es debida a causas genéticas.
Margarita Olarte, Nancy Gelvez, Silvia Flórez, Ignacio Castillo, Marta Lucía Tamayo   +4 more
doaj  

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Mechanistic effect of the human GJB6 gene and its mutations in HaCaT cell proliferation and apoptosis

Brazilian Journal of Medical and Biological Research, 2018
We constructed lentiviral vectors containing the human wild-type GJB6 gene and the mutant variants A88V and G11R. The three proteins were stably expressed by the Tet-on system in the HaCaT cell line and used to study the functional effect of the variants.
Yuting Lu, Ruili Zhang, Zhenying Wang, Shuhua Zhou, Yali Song, Lamei Chen, Nan Chen, Wenmin Liu, Canan Ji, Wangli Wu, Li Zhang   +10 more
doaj   +1 more source

Common molecular etiologies are rare in nonsyndromic Tibetan Chinese patients with hearing impairment. [PDF]

PLoS ONE, 2012
Thirty thousand infants are born every year with congenital hearing impairment in mainland China. Racial and regional factors are important in clinical diagnosis of genetic deafness.
Yongyi Yuan, Xun Zhang, Shasha Huang, Lujie Zuo, Guozheng Zhang, Yueshuai Song, Guojian Wang, Hongtian Wang, Deliang Huang, Dongyi Han, Pu Dai   +10 more
doaj   +1 more source

Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)

The Scientific World Journal, 2019
In silico predictive software allows assessing the effect of amino acid substitutions on the structure or function of a protein without conducting functional studies.
Vera G. Pshennikova, Nikolay A. Barashkov, Georgii P. Romanov, Fedor M. Teryutin, Aisen V. Solov’ev, Nyurgun N. Gotovtsev, Alena A. Nikanorova, Sergey S. Nakhodkin, Nikolay N. Sazonov, Igor V. Morozov, Alexander A. Bondar, Lilya U. Dzhemileva, Elza K. Khusnutdinova, Olga L. Posukh, Sardana A. Fedorova   +14 more
doaj   +1 more source

Targeting the SIRT1‐NAT10‐GABABR1 Axis: A Novel Epitranscriptomic Approach to Mitigate Sevoflurane‐Induced Cognitive Impairment in Aging

CNS Neuroscience &Therapeutics, Volume 32, Issue 2, February 2026.
The study reveals that NAT10 enhances GABABR1 mRNA stability via ac4A modification, leading to excessive inhibitory synaptic activation. In aged rats, sevoflurane contributes to cognitive impairment by inhibiting Sirt1 and neuronal autophagy, which subsequently disrupts energy metabolism.
Xin Xie, Wei Du, Yanmei Zhang, Xiaomin Zhang   +3 more
wiley   +1 more source

Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach.

PLoS ONE, 2017
The unparalleled heterogeneity in genetic causes of hearing loss along with remarkable differences in prevalence of causative variants among ethnic groups makes single gene tests technically inefficient.
Denise Yan, Guangxin Xiang, Xingping Chai, Jie Qing, Haiqiong Shang, Bing Zou, Rahul Mittal, Jun Shen, Richard J H Smith, Yao-Shan Fan, Susan H Blanton, Mustafa Tekin, Cynthia Morton, Wanli Xing, Jing Cheng, Xue Zhong Liu   +15 more
doaj   +1 more source