نتایج جستجو برای: gjb6
تعداد نتایج: 238 فیلتر نتایج به سال:
In the brain, astrocytes represent the cellular population that expresses the highest amount of connexins (Cxs). This family of membrane proteins is the molecular constituent of gap junction channels and hemichannels that provide pathways for direct cytoplasm-to-cytoplasm and inside-out exchange, respectively. Both types of Cx channels are permeable to ions and small signaling molecules allowin...
OBJECTIVES/HYPOTHESIS The aim of this study was to 1) determine the prevalence of DFNB1 in a cohort of children with prelingual nonsyndromic sensorineural hearing loss (HL), 2) study phenotype/genotype correlations, and 3) establish guidelines for genetic counseling of DFNB1. STUDY DESIGN Prospective cohort study. METHODS A total of 119 unrelated children (107 sporadic and 12 familial cases...
Abstract Background Autosomal recessive non-syndromic hearing loss (ARNSHL) is genetically and phenotypically heterogeneous with over 110 genes causally implicated in syndromic loss. Here, we investigate the genetic etiology of deafness two GJB2 GJB6 negative patients presenting pre-lingual, progressive, severe Methods Targeted exome sequencing (TES) using Next Generation Illumina Sequencing wa...
Background: Psoriasis, a chronic inflammatory disease affecting 2–3% of the population, is characterised by epidermal hyperplasia, sustained pro-inflammatory immune response and primarily T-cell driven disease. Previous work determined that Connexin26 upregulated in psoriatic tissue. This study extends these findings. Methods: Biopsies spanning plaque (PP) non-involved tissue (PN) were compared...
H earing impairment is a common and highly heterogeneous sensory disorder. Genetic causes are thought to be responsible for more than 60% of the cases in developed countries. In the majority of cases, non-syndromic hearing impairment is inherited in an autosomal recessive pattern. Thirty eight different loci and 20 genes for autosomal recessive non-syndromic hearing impairment (ARNSHI) have bee...
The gap junction protein connexin30 (Cx30) is expressed in a variety of tissues that include epithelial and mesenchymal structures of the inner ear. We generated Cx30 (Gjb6) deficient mice by deletion of the Cx30 coding region. Homozygous mutants (Cx30((-/-))) were born at the expected Mendelian frequency, developed normally and were fertile. However, they exhibit a severe constitutive hearing ...
Introduction: Traditionally, the diogenite meteorites have been viewed as orthopyroxenite cumulates with small amounts of olivine [1]. Several olivine-rich, harzburgite diogenites have recently been recognized and may provide insight into the occurrence of olivine on Vesta and in the HED meteorite suite [2,3]. In both the harzburgite and orthopyroxenite diogenites, olivine has been interpreted ...
The exploitation of heterosis is one of the most outstanding advancements in plant breeding, although its genetic basis is not well understood yet. This research was conducted on the materials arising from the maize single cross B73 x H99 to study heterosis by procedures of classical genetic and quantitative trait loci (QTL) analyses. Materials were the basic generations, the derived 142 recomb...
OBJECTIVE The purpose of this three-wave longitudinal study was twofold. First, prevalence data on alcohol characteristics (e.g., drinks per day, heavy episodic drinking [HED]) were provided for a community sample of middle-aged adults. Aggregate (or group) and individual levels of stability of these characteristics across a 10-year interval were a major focus. Second, an actor-partner interdep...
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