Results 81 to 90 of about 126,431 (255)

Cross-sectional analysis of hearing loss, age and tinnitus severity in a web-recruited cohort of 610 subjects

Journal of Otology
Tinnitus the hearing of a sound that has not been produced by any external or internal source, is a rather heterogeneous hearing disorder. Background/Objectives Hearing loss has been shown to be the main risk factor for tinnitus while emotional disorders
María Cuesta, Pedro Cobo
doaj   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

PRMT6 drives hearing loss by promoting asymmetric arginine dimethylation-mediated FOXG1 degradation and suppressing mitophagy

Experimental Gerontology
Objective: Age-related hearing loss (ARHL) is a progressive and irreversible sensorineural impairment with incompletely understood mechanisms. This study investigates the role of protein arginine methyltransferase 6 (PRMT6) and its regulatory mechanisms ...
Jin Wu, Zhi Liu
doaj   +1 more source

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source

The genetic landscape of age-related hearing loss

Trends in Genetics
Age-related hearing loss (ARHL) is a prevalent concern in the elderly population. Recent genome-wide and phenome-wide association studies (GWASs and PheWASs) have delved into the identification of causative variants and the understanding of pleiotropy, highlighting the polygenic intricacies of this complex condition. While recent large-scale GWASs have
Yuzuru, Ninoyu, Rick A, Friedman
openaire   +2 more sources

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Age-Related Hearing Loss Associations With Changes in Brain Morphology

Trends in Hearing, 2019
Age-related hearing loss has been associated with varied auditory cortex morphology in human neuroimaging studies. These findings have suggested that peripheral auditory system declines cause changes in brain morphology but could also be due to latent ...
Mark A. Eckert, Kenneth I. Vaden, Judy R. Dubno   +2 more
doaj   +1 more source

Understanding Arthrogryposis Multiplex Congenita (AMC) Across the Lifespan: An Integrative Review of the Adult AMC Registry's Contributions With Lived Experience Partnerships

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This reflective essay explores how collaborative work between researchers and adults living with Arthrogryposis Multiplex Congenita (AMC) has deepened and broadened our understanding of what it means to live with this rare condition. By intentionally integrating the lived experiences of individuals with AMC into research processes, the ...
Bonita J. Sawatzky, Megan K. MacGillivray, Tracey Schalk, William Bennett Mortenson   +3 more
wiley   +1 more source

Intensified Manufactured Non‐Belonging: Working Holiday Makers in Australia During the COVID‐19 Pandemic

Australian Journal of Social Issues, EarlyView.
ABSTRACT Nations manufacture non‐belonging of temporary migrants through policy frameworks that produce exclusion. This precarity maximises the economic benefit of temporary migrant labour by minimising their political, social and legal rights. In this paper, we examine how non‐belonging targeting Working Holiday Makers (WHMs) is manufactured in ...
Donna James, Alanna Kamp
wiley   +1 more source