Results 31 to 40 of about 6,586 (177)

Cross-modal plasticity in adult single-sided deafness revealed by alpha band resting-state functional connectivity

NeuroImage, 2020
Single-sided deafness (SSD) or profound unilateral hearing loss is the condition where the transfer of acoustic information to the brain is restricted to one ear.
Yingying Shang, Leighton B. Hinkley, Chang Cai, Danielle Mizuiri, Steven W. Cheung, Srikantan S. Nagarajan   +5 more
doaj   +1 more source

CRISPR and Gene Augmentation Rescue Trabecular Meshwork Dysfunction in iPSC Models of Lowe Syndrome

Advanced Science, EarlyView.
By modeling Lowe syndrome using patient‐derived iPSCs, this study establishes a human disease model that faithfully recapitulates OCRL deficiency‐associated ciliary and cytoskeletal defects. The model enables evaluation of both mutation‐agnostic DNA augmentation and CRISPR‐mediated mutation correction strategies, both of which restore OCRL function and
Siyu Chen, Zhiquan Liu, Wenmin Wang, Qing Wang, Tia J. Kowal, Fan Zhang, Grzegorz Walkiewicz, Faruk Hossen, Herbert M. Lachman, Jinqiong Zhou, Yiting Wang, Yang Sun   +11 more
wiley   +1 more source

Single-Sided Deafness: A Narrative Review

Apollo Medicine
Background and Aims: Single-sided deafness (SSD) is a severe type of hearing loss affecting one ear, and it frequently presents social difficulties for those affected. Head shadow effect and sound localisation play an important role in speech perception.
Santosh Kumar Swain
doaj   +1 more source

WFS1 Deficiency Impairs PIAS4‐Associated SUMOylation and Increases Ubiquitin‐Mediated Spermatogenesis‐Related Protein Degradation Leading to Testicular Male Infertility

Advanced Science, EarlyView.
The findings establish a critical role for WFS1 in human male fertility. Mechanistically, WFS1 interacts with PIAS4 to promote the SUMOylation of key spermatogenesis‐associated proteins, which in turn competitively inhibits their K48‐linked ubiquitin‐mediated degradation during spermatogenesis.
Yunchuan Tian, Guicheng Zhao, Xiang Wang, Xinyao Tang, Gan Shen, Tiechao Ruan, Chuan Jiang, Shikun Zhao, Jincheng Zhang, Xinyue Cui, Liangchai Zhuo, Jun Ma, Yihong Yang, Tingting Lin, Ying Shen   +14 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

Effectiveness of contralateral routing of signal device versus other available management options in long-standing single-sided deafness: a patient’s perspective

The Egyptian Journal of Otolaryngology
Background Single-sided deafness is characterized as one ear with severe to profound sensorineural hearing loss or dead and normal or near-normal hearing in the other ear.
Lokanath Sahoo, Rahul Kurkure, Vivek Kumar Singh, Nitu Singh, Kiran Upadhyay, Krushnendu Sundar Sahoo   +5 more
doaj   +1 more source

Early cochlear implantation supports narrative skills of children with prelingual single-sided deafness

Scientific Reports, 2023
Prelingual single-sided deafness (SSD) not only affects children’s hearing skills, but can also lead to speech-language delays and academic underachievement.
Tine Arras, An Boudewyns, Ingeborg Dhooge, Andrzej Zarowski, Birgit Philips, Christian Desloovere, Jan Wouters, Astrid van Wieringen   +7 more
doaj   +1 more source

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

Understanding Sustainable Business Model Barriers: The Interplay of Sustainable Value Dynamics and Organizational Tensions

Business Strategy and the Environment, EarlyView.
ABSTRACT Sustainability‐oriented startups face challenges in implementing sustainable business models due to resource constraints, technological uncertainty and competing economic, social and environmental objectives. Although prior studies have identified numerous sustainable business model barriers, limited attention has been given to the ...
Sandra Naomi Morioka, Andressa Kelly da Silva Nunes, Ivan Bolis   +2 more
wiley   +1 more source

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source