Search results for "Connexin 30"

showing 4 items of 4 documents

A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression

2010

Contains fulltext : 87760_1.pdf (author's version ) (Open Access) Contains fulltext : 87760_2.pdf (Publisher’s version ) (Closed access) Eleven affected members of a large German-American family segregating recessively inherited, congenital, non-syndromic sensorineural hearing loss (SNHL) were found to be homozygous for the common 35delG mutation of GJB2, the gene encoding the gap junction protein Connexin 26. Surprisingly, four additional family members with bilateral profound SNHL carried only a single 35delG mutation. Previously, we demonstrated reduced expression of both GJB2 and GJB6 mRNA from the allele carried in trans with that bearing the 35delG mutation in these four persons. Usin…

MaleGenetics and epigenetic pathways of disease [NCMLS 6][SDV]Life Sciences [q-bio]PenetranceMESH: Base SequenceRegulatory Sequences Nucleic Acidsensorineural hearing lossConnexinsMESH: GenotypeMESH: Hearing Loss Sensorineural/diagnosisMESH: PenetranceGenotypeCopy-number variationGenetics (clinical)Sequence DeletionGeneticsComparative Genomic Hybridization0303 health sciencesMESH: Genetic TestingMESH: Gene Expression Regulation*030305 genetics & heredityPenetranceGJB2PedigreeConnexin 26MESH: Sequence Deletion*MESH: Hearing Loss Sensorineural/geneticsFemaleChromosome DeletionFunctional Neurogenomics [DCN 2]GJB6GenotypeMESH: PedigreeMESH: Chromosome DeletionHearing Loss SensorineuralMolecular Sequence Dataconnexin 26connexin 30DFNB1gene expression regulationGJB2GJB6sensorineural hearing losssequence deletionBiologyMESH: Connexin 30MESH: Connexins/genetics*MESH: Sequence Homology Nucleic AcidArticleGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesMonoallelic MutationGJB6MESH: Connexin 26Sequence Homology Nucleic AcidConnexin 30otorhinolaryngologic diseasesGeneticsHumansGenetic TestingAlleleGeneMESH: Regulatory Sequences Nucleic Acid/genetics*AllelesDFNB1030304 developmental biologyFamily HealthMESH: HumansMESH: Molecular Sequence DataBase SequenceChromosomes Human Pair 13MESH: AllelesBreakpointMESH: MaleMESH: Comparative Genomic HybridizationGene Expression RegulationMESH: Family Healthbiology.proteinHuman medicineMESH: Chromosomes Human Pair 13/geneticsMESH: FemaleClinical Genetics
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Hypothalamic Astroglial Connexins are Required for Brain Glucose Sensing-Induced Insulin Secretion

2014

Supplementary Information accompanies the paper on the Journal of Cerebral Blood Flow & Metabolism website; Hypothalamic glucose detection participates in maintaining glycemic balance, food intake, and thermogenesis. Although hypothalamic neurons are the executive cells involved in these responses, there is increasing evidence that astrocytes participate in glucose sensing (GS); however, it is unknown whether astroglial networking is required for glucose sensitivity. Astroglial connexins 30 and 43 (Cx30 and Cx43) form hexameric channels, which are apposed in gap junctions, allowing for the intercellular transfer of small molecules such as glucose throughout the astroglial networks. Here, we…

MaleINVOLVEMENTHOMEOSTASISmedicine.medical_specialtymedicine.medical_treatmentNerve Tissue ProteinsCarbohydrate metabolismBiologyASTROCYTESConnexinsconnexin 43RATSastrocyteInternal medicineInsulin SecretionmedicineAnimalsInsulinTANYCYTESRats WistarhypothalamusIN-VIVOHEMICHANNELSglucose sensingInsulinARCUATE NUCLEUSGap junctionFasting[ SDV.MHEP.EM ] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism[SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolismBARRIERconnexin 30NETWORKSGlucoseEndocrinologymedicine.anatomical_structureNeurologyHypothalamus[ SDV.NEU ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]RNA InterferenceOriginal Article[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]sense organsNeurology (clinical)Cardiology and Cardiovascular MedicineThermogenesisIntracellularHomeostasisAstrocyteJournal of Cerebral Blood Flow & Metabolism
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Regulation of connexin gene expression during skeletal muscle regeneration in the adult rat

2009

In the adult skeletal muscle, various kinds of trauma promote proliferation of satellite cells that differentiate into myoblasts forming new myofibers or to repair the damaged one. The aim of present work was to perform a comparative spatial and temporal analysis of connexin (Cx) 37, Cx39, Cx40, Cx43, and Cx45 expression in the adult regenerating skeletal muscle in response to crush injury. Within 24 h from injury, Cx37 expression was upregulated in the endothelial cells of blood vessels, and, 5 days after injury, Cx37-expressing cells were found inside the area of lesion and formed clusters generating new blood vessels with endothelial cells expressing Cx37. Three days after injury, Cx39 m…

MalePathologymedicine.medical_specialtyTime FactorsPhysiologyMuscle Fibers SkeletalConnexinNeovascularization Physiologicconnexin 45BiologyConnexinsconnexin 43Cell Fusionconnexin 40Muscle regenerationGene expressionmedicineConnexin 30MyocyteAnimalsRegenerationRNA MessengerRats WistarMuscle SkeletalIn Situ HybridizationCell AggregationCell ProliferationMyogenic cellsconnexin 39Regeneration (biology)Skeletal muscleEndothelial CellsCell Biologyconnexin 37biology.organism_classificationConstrictionImmunohistochemistryCell biologyRatsMuscle regenerationmedicine.anatomical_structureGene Expression Regulationmyogenic cellSatellite (biology)Muscle regeneration; Connexins; Myogenic cells
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Oligodendrocytes in mouse corpus callosum are coupled via gap junction channels formed by connexin47 and connexin32.

2010

According to previously published ultrastructural studies, oligodendrocytes in white matter exhibit gap junctions with astrocytes, but not among each other, while in vitro oligodendrocytes form functional gap junctions. We have studied functional coupling among oligodendrocytes in acute slices of postnatal mouse corpus callosum. By whole-cell patch clamp we dialyzed oligodendrocytes with biocytin, a gap junction-permeable tracer. On average 61 cells were positive for biocytin detected by labeling with streptavidin-Cy3. About 77% of the coupled cells stained positively for the oligodendrocyte marker protein CNPase, 9% for the astrocyte marker GFAP and 14% were negative for both CNPase and GF…

PolydendrocytesPatch-Clamp TechniquesPopulationNerve Tissue ProteinsBiologyIn Vitro TechniquesConnexinsCorpus CallosumOLIG2Cellular and Molecular Neurosciencechemistry.chemical_compoundMyelinMiceBiocytinGlial Fibrillary Acidic ProteinmedicineBasic Helix-Loop-Helix Transcription FactorsConnexin 30AnimalsAntigenseducationMice Knockouteducation.field_of_studyLysineStem CellsGap junctionGap JunctionsCarbocyaninesOligodendrocyte Transcription Factor 2OligodendrocyteCell biologyMice Inbred C57BLOligodendrogliamedicine.anatomical_structureNeurologychemistryAstrocytesProteoglycansStreptavidin2'3'-Cyclic-Nucleotide PhosphodiesterasesNeuroscienceAstrocyteGlia
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