Results 21 to 30 of about 1,850 (127)

Medical sequencing of de novo ectodermal dysplasia in identical twins and evaluation of the potential eligibility for recombinant EDA therapy [PDF]

Journal of Dental Research, Dental Clinics, Dental Prospects, 2017
The purpose of this study was to test two 8-year-old identical twins with ectodermal dysplasia (ED) and their unaffected parents for the presence of mutations in the EDA gene with the hypothesis that they might be carrying a de novo mutation ...
Adriana Modesto, Catherine Ventura, Kathleen Deeley, Deborah Studen-Pavlovich, Alexandre Rezende Vieira   +4 more
doaj   +1 more source

GJB2 Is a Major Cause of Non-Syndromic Hearing Impairment in Senegal

Biology, 2022
This study aimed to investigate GJB2 (MIM: 121011) and GJB6 (MIM: 604418) variants associated with familial non-syndromic hearing impairment (HI) in Senegal.
Yacouba Dia, Samuel Mawuli Adadey, Jean Pascal Demba Diop, Elvis Twumasi Aboagye, Seydi Abdoul Ba, Carmen De Kock, Cheikh Ahmed Tidjane Ly, Oluwafemi Gabriel Oluwale, Andrea Regina Gnilane Sène, Pierre Diaga Sarr, Bay Karim Diallo, Rokhaya Ndiaye Diallo, Ambroise Wonkam   +12 more
doaj   +1 more source

Prevalências das mutações 35delG/GJB2 e del (GJB6-D13S1830) em portadores de surdez não-sindrômica na população do Espírito Santo - Brasil Prevalence of 35delG/GJB2 and del (GJB6-D13S1830) mutations in patients with non-syndromic deafness from a population of Espírito Santo - Brazil

Brazilian Journal of Otorhinolaryngology, 2010
Mutações no gene GJB2 constituem a principal causa de surdez genética de herança autossômica recessiva, sendo a mutação 35delG a mais comum em muitos grupos étnicos.
Melissa de Freitas Cordeiro-Silva, Andressa Barbosa, Marília Santiago, Mariana Provetti, Eliete Rabbi-Bortolini   +4 more
doaj   +1 more source

Mutation–proved Clouston syndrome in a large Indian family with a variant phenotype

Indian Journal of Dermatology, 2019
Hereditary ectodermal dysplasias, a group of disorders affecting skin, hair, nails, and teeth, consist of two main clinical forms – hypohidrotic and hidrotic.
Sangeeta Khatter, Ratna Dua Puri, Sunita Bijarnia Mahay, Pratibha Bhai, Renu Saxena, Ishwar C Verma   +5 more
doaj   +1 more source

Single‐Nucleus Transcriptomic Atlas of Human Vellus Hair Pilosebaceous Units Reveals Age‐Associated Remodeling

Advanced Science, EarlyView.
Human vellus pilosebaceous units (PSUs) remain uncharted. This single‐nucleus atlas reveals coordinated remodeling of the aging PSU niche: reduced bulge stem cell representation with altered regenerative programs, increased representation of a stress‐responsive channel+ epithelial state, enhanced androgen‐responsive sebaceous programs, reduced ...
Ya'nan Li, Zhuoqiong Qiu, Xiaoyu Pan, Geyang Xu, Shanshan Peng, Ronghui Zhu, Qiuyang Luo, Xiaokai Fang, Xu Yao, Wei Li   +9 more
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

Pretreatment of keratinocytes with Galactomyces ferment filtrate (GFF) promotes stress resiliency in an in vitro oxidative stress model

International Journal of Cosmetic Science, EarlyView.
GFF pretreatment enhances keratinocyte protection against oxidative stress by mitigating stress‐induced biomolecular changes and gene expression dysregulation. GFF‐pretreated keratinocytes maintain healthy epidermal biology post‐stress, preserving mitochondrial function and proliferative capacity.
Lisa C. Green, Tim Reichling, Holly A. Rovito, Jodie Reed, Xingtao Wei, John M. Snowball, Tom Cambron, Tomohiro Hakozaki   +7 more
wiley   +1 more source

Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort

BMC Research Notes, 2018
Objective Hereditary hearing loss (HL) is the most common sensorineural disorder in humans. Besides mutations in GJB2 and GJB6 genes, pathogenic variants in the SLC26A4 gene have been reported as a cause of hereditary HL due to its role in the physiology
Simone da Costa e Silva Carvalho, Carlos Henrique Paiva Grangeiro, Clarissa Gondim Picanço-Albuquerque, Thaís Oliveira dos Anjos, Greice Andreotti De Molfetta, Wilson Araujo Silva, Victor Evangelista de Faria Ferraz   +6 more
doaj   +1 more source

Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice. [PDF]

PLoS ONE, 2010
Molecular diagnostic testing of individuals with congenital sensorineural hearing loss typically begins with DNA sequencing of the GJB2 gene. If the cause of the hearing loss is not identified in GJB2, additional testing can be ordered. However, the step-
Juan Rodriguez-Paris, Lynn Pique, Tahl Colen, Joseph Roberson, Phyllis Gardner, Iris Schrijver   +5 more
doaj   +1 more source

Mutant Cx30-A88V mice exhibit hydrocephaly and sex-dependent behavioral abnormalities, implicating a functional role for Cx30 in the brain

Disease Models & Mechanisms, 2021
Connexin 30 (Cx30; also known as Gjb6 when referring to the mouse gene) is expressed in ependymal cells of the brain ventricles, in leptomeningeal cells and in astrocytes rich in connexin 43 (Cx43), leading us to question whether patients harboring GJB6 ...
Nicole M. Novielli-Kuntz, Eric R. Press, Kevin Barr, Marco A. M. Prado, Dale W. Laird   +4 more
doaj   +1 more source