Results 71 to 80 of about 2,702,233 (230)

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

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

Connexin hemichannel inhibition ameliorates epidermal pathology in a mouse model of keratitis ichthyosis deafness syndrome

Scientific Reports, 2021
Mutations in five different genes encoding connexin channels cause eleven clinically defined human skin diseases. Keratitis ichthyosis deafness (KID) syndrome is caused by point mutations in the GJB2 gene encoding Connexin 26 (Cx26) which result in ...
Caterina Sellitto, Leping Li, Thomas W. White   +2 more
doaj   +1 more source

A genotype-phenotype correlation for GJB2 (connexin 26) deafness [PDF]

Journal of Medical Genetics, 2004
Introduction: Mutations in GJB2 are the most common cause of non-syndromic autosomal recessive hearing impairment, ranging from mild to profound. Mutation analysis of this gene is widely available as a genetic diagnostic test. Objective: To assess a possible genotype-phenotype correlation for GJB2.
Cryns, K., Orzan, E., Murgia, A., Huygen, P.L., Moreno, F., del Castillo, I., Chamberlin, G. Parker, Azaiez, H., Prasad, S., Cucci, R.A., Leonardi, E., Snoeckx, R.L., Govaerts, P.J., Van de Heyning, P.H., Van De Heyning, C.M., Smith, R.J., Van Camp, G.   +16 more
openaire   +5 more sources

Air Pollution Quinones Impair Intestinal Barrier Integrity and Endoplasmic Reticulum in Differentiated Caco‐2 Cells

Journal of Applied Toxicology, EarlyView.
ABSTRACT Particulate matter (PM) is a major global health threat, linked to millions of deaths annually. Beyond inhalation, PM components reach the gastrointestinal tract through the mucociliary escalator or contaminated food and water. Among PM's organic fraction, redox‐active quinones such as 1,2‐naphthoquinone (NQ) and 9,10‐phenanthrenequinone (PQ ...
Franco Cervellati, Giulia Trinchera, Alice Casoni, Alessandra Pecorelli, Mascia Benedusi, Maria Chiara Pietrogrande, Giuseppe Valacchi   +6 more
wiley   +1 more source

Effects of D-methionine in mice with noise-induced hearing loss mice

Journal of International Medical Research, 2019
Objective To study the effects of D-methionine in a mouse model of noise-induced hearing loss (NIHL). Methods We investigated changes in auditory function and microscopic cochlear structure in a mouse model of NIHL, and carried out 4-hydroxynonenal (4 ...
Yanru Wang, Yan Qu, Xuzhen Chen, Pu Zhang, Dan Su, Li Wang, Feifei Yang, Jiangdong Yang   +7 more
doaj   +1 more source

Speech Perception Outcomes after Cochlear Implantation in Children with GJB2/DFNB1 associated Deafness

Balkan Medical Journal, 2014
Background: Cochlear implants (CI) for the rehabilitation of patients with profound or total bilateral sensorineural hypoacusis represent the initial use of electrical fields to provide audibility in cases where the use of sound amplifiers does not ...
Marina Davcheva-Chakar, Valentina Ivanovska, Emilija Sukarova-Stefanovska, Vesna Lazarevska, Ilija Filipche, Beti Zafirovska   +5 more
doaj   +1 more source

Permeation Pathway of Homomeric Connexin 26 and Connexin 30 Channels Investigated by Molecular Dynamics [PDF]

Journal of Biomolecular Structure and Dynamics, 2012
Mutations in the genes GJB2 and GJB6 encoding human connnexin26 (hCx26) and connexin30 (hCx30), respectively, are the leading cause of non-syndromic prelingual deafness in several human populations. In this work, we exploited the high degree (77%) of sequence similarity shared by hCx26 and hCx30 to create atomistic models of homomeric hCx26 and hCx30 ...
ZONTA, FRANCESCO, POLLES G, ZANOTTI, GIUSEPPE, MAMMANO, FABIO   +3 more
openaire   +4 more sources

Mutation Spectrum of the Connexin 26 (Gjb2) Gene in Taiwanese Patients with Prelingual Deafness

, 2009
PURPOSE: To determine the mutation spectrum of the connexin 26 gene among 324 Taiwanese patients with prelingual deafness and the carrier rate of gene mutation in another 432 unrelated control subjects.
Hwa, Hsiao-Lin; Ko, Tsang-Ming; Hsu, Chuan-Jen; Huang, Chien-Hao; Chiang, Yu-Ling; Oong, Jene-Lien; Chen, Chun-Chen; Hsu, and Chia-Kai, 華筱玲;柯滄銘;許權振   +1 more
core   +1 more source

Deficiency of Mitochondrial Fatty Acid Enzyme, CPT1A, Underlies Airway Epithelial Barrier Dysfunction in Severe Asthma

Allergy, EarlyView.
Mitochondrial fatty acid enzyme, CPT1A, is deficient in the airway epithelium of severe asthma patients. Restoration of CPT1A expression improved epithelial barrier integrity via increasing mitochondrial respiration and ATP production in airway epithelial cells. Restoration of deficient epithelial CPT1A may represent a new treatment approach for severe
Muyun Wang, Haiyang Hu, Kun Wang, Di Wu, Ximing Liao, Jing Gao, Tian Li, Wujian Xu, Shaoyong Gao, Qiang Li, Pankaj Kumar Bhavsar, Wei Gao, Kian Fan Chung   +12 more
wiley   +1 more source