Results 41 to 50 of about 5,521 (170)

Triggered Calcium Lightning Programs Cochlear Development

Exploration, EarlyView.
Summary: Before the onset of hearing, the developing inner ear generates spontaneous calcium signals that are thought to guide maturation. In this study, we discovered a rapid and widespread calcium flash—dubbed “Ca2+ lightning”—originating from supporting cells beneath the sensory hair cells, which triggers coordinated calcium waves across the entire ...
Qiang Ma, Hai‐Peng Wang, Yu‐Meng Jiang, Ke Lai, Ming‐Xian Li, Zhen Zhang, Li‐Na Gong, Jing‐Wei Lai, Kai‐Ming Su, Lu‐Yang Wang, Hui Wang, Shan‐Kai Yin, Hao He, Hai‐Bo Shi   +13 more
wiley   +1 more source

Restoration, Not Bypass: Otoferlin Gene Therapy and a New Era in Hearing Loss Treatment

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract The FDA approval of Otarmeni, an AAV‐based gene therapy for biallelic OTOF‐associated sensorineural hearing loss, represents a conceptual shift in otology: from bypassing defective auditory physiology to restoring it. Unlike cochlear implantation, which circumvents damaged sensory structures, OTOF gene replacement targets a synaptic deficit in
Jazlyn A. Selvasingh, Justin R. Shinn
wiley   +1 more source

Generation of hiPSC line UMi030-A from an individual with the hearing loss-related GJB2 mutation c.109G > A

Stem Cell Research, 2022
Genetic variants in the GJB2 gene which encodes for the Connexin 26 protein account for ∼ 60% of cases of genetic hearing loss. A novel hiPSC line was generated from an individual with the hearing loss-related variant c.109G > A in GJB2 leading to the p ...
Brett M. Colbert, Nicholas C. Gosstola, Derek M. Dykxhoorn, Xue Zhong Liu   +3 more
doaj   +1 more source

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border

Clinical Genetics, EarlyView.
Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart, Michelle Gray, Roberta Sierra, Camille Maldonado, Daniel Brooks, Hongzheng Dai, Aaly Rahimtoola, Sandy Magallan, Sarah Rodriguez, Jose Gamez, Pattie Rosenlund, Surya N. Mulukutla, Alberto Allegre, Lori Berry, Brendan Lee, Daryl A. Scott, Blake Vuocolo, Seema R. Lalani   +17 more
wiley   +1 more source

Mutations in the gjb2 gene in children with bilateral hearing loss in Kyrgyzstan [PDF]

Russian Otorhinolaryngology, 2020
The purpose of this work was to identify and study the prevalence of mutations in the GJB2 gene encoding the connexin 26 protein in the Kyrgyz Republic. Hearing loss is currently the most widespread disease. This paper presents a study of 89 patients with persistent bilateral sensorineural hearing loss and deafness of unknown etiology.
V. V. Khalfina, A. A. Stepanova, T. G. Markova, A. V. Polyakov, G. A. Tavartkiladze, V. A. Nasyrov   +5 more
openaire   +1 more source

Cutaneous lymphomas – an update

Histopathology, EarlyView.
Primary cutaneous lymphomas and lymphoproliferative disorders are defined by integrated clinical, histopathological, immunophenotypic and genetic features as diagnostic criteria also in the 5th edition of the WHO classification of haematolymphoid tumors.
Werner Kempf, Christina Mitteldorf
wiley   +1 more source

Hearing Function in Heterozygous Carriers of a Pathogenic GJB2 Gene Mutation

Physiological Research, 2013
The most frequent hereditary hearing loss is caused by mutations in the GJB2 gene coding for the gap junction beta 2 protein Connexin 26 (Cx26). In contrast to many studies performed in patients with bi-allelic mutations, audiometric studies on heterozygotes are sparse and often contradictory.
D, Groh, P, Seeman, M, Jilek, J, Popelář, Z, Kabelka, J, Syka   +5 more
openaire   +2 more sources

Viral‐Mediated Connexin 26 Expression Combined with Dexamethasone Rescues Hearing in a Conditional Gjb2 Null Mice Model

Advanced Science
GJB2 encodes connexin 26 (Cx26), the most commonly mutated gene causing hereditary non‐syndromic hearing loss. Cx26 is mainly expressed in supporting cells (SCs) and fibrocytes in the mammalian cochlea.
Xiaohui Wang, Li Zhang, Sen Chen, Le Xie, Yue Qiu, Chenyang Kong, Ge Yin, Weijia Kong, Yu Sun   +8 more
doaj   +1 more source

DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes

Frontiers in Molecular Neuroscience, 2017
The inner ear is a very complex sensory organ whose development and function depend on finely balanced interactions among diverse cell types. The many different kinds of inner ear supporting cells play the essential roles of providing physical and ...
Francisco J. del Castillo, Francisco J. del Castillo, Ignacio del Castillo, Ignacio del Castillo   +3 more
doaj   +1 more source

Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854). [PDF]

PLoS ONE, 2011
Mutations in the GJB2 gene, which encodes connexin 26, are a frequent cause of congenital non-syndromic sensorineural hearing loss. Two large deletions, del(GJB6-D13S1830) and del(GJB6-D13S1854), which truncate GJB6 (connexin 30), cause hearing loss in ...
Juan Rodriguez-Paris, Marta L Tamayo, Nancy Gelvez, Iris Schrijver   +3 more
doaj   +1 more source