Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential
about
Gap junction mediated intercellular metabolite transfer in the cochlea is compromised in connexin30 null miceConnexins: a myriad of functions extending beyond assembly of gap junction channelsA missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) miceThe endocochlear potential depends on two K+ diffusion potentials and an electrical barrier in the stria vascularis of the inner earThe role of connexins in ear and skin physiology - functional insights from disease-associated mutationsFunctional analysis and regulation of purified connexin hemichannelsGenetics of hearing and deafnessGap junction connexins in female reproductive organs: implications for women's reproductive healthCellular and Deafness Mechanisms Underlying Connexin Mutation-Induced Hearing Loss - A Common Hereditary Deafness.Gap junctions and hemichannels composed of connexins: potential therapeutic targets for neurodegenerative diseasesConservation of hearing and protection of hair cells in cochlear implant patients' with residual hearingNovel gene function revealed by mouse mutagenesis screens for models of age-related disease.Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange SyndromeThe unique electrical properties in an extracellular fluid of the mammalian cochlea; their functional roles, homeostatic processes, and pathological significance.Human connexin26 and connexin30 form functional heteromeric and heterotypic channelsGap junctions and cochlear homeostasisConnexin30 null and conditional connexin26 null mice display distinct pattern and time course of cellular degeneration in the cochleaCoordinated control of connexin 26 and connexin 30 at the regulatory and functional level in the inner earA pair of co-opted retroviral envelope syncytin genes is required for formation of the two-layered murine placental syncytiotrophoblastReduced phosphatidylinositol 4,5-bisphosphate synthesis impairs inner ear Ca2+ signaling and high-frequency hearing acquisitionThe human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice.Ganglionic GFAP + glial Gq-GPCR signaling enhances heart functions in vivoHypothesis of K+-Recycling Defect Is Not a Primary Deafness Mechanism for Cx26 (GJB2) DeficiencyA connexin30 mutation rescues hearing and reveals roles for gap junctions in cochlear amplification and micromechanicsGene expression underlying enhanced, steroid-dependent auditory sensitivity of hair cell epithelium in a vocal fish.Pannexin1 channels dominate ATP release in the cochlea ensuring endocochlear potential and auditory receptor potential generation and hearing.Potassium ion movement in the inner ear: insights from genetic disease and mouse modelsGenetics of auditory mechano-electrical transduction.Heptanol application to the mouse round window: a model for studying cochlear lateral wall regeneration.Inner ear gene transfection in neonatal mice using adeno-associated viral vector: a comparison of two approaches.Calcium signaling in the cochlea - Molecular mechanisms and physiopathological implications.Viral vector tropism for supporting cells in the developing murine cochlea.Defining the cellular environment in the organ of Corti following extensive hair cell loss: a basis for future sensory cell replacement in the Cochlea.Reduced electromotility of outer hair cells associated with connexin-related forms of deafness: an in silico study of a cochlear network mechanism.The Membrane Properties of Cochlear Root Cells are Consistent with Roles in Potassium Recirculation and Spatial Buffering.BAAV mediated GJB2 gene transfer restores gap junction coupling in cochlear organotypic cultures from deaf Cx26Sox10Cre mice.Restoration of connexin26 protein level in the cochlea completely rescues hearing in a mouse model of human connexin30-linked deafness.Connexin30 deficiency causes instrastrial fluid-blood barrier disruption within the cochlear stria vascularis.Mice lacking ganglioside GM3 synthase exhibit complete hearing loss due to selective degeneration of the organ of Corti.Gap-junction channels dysfunction in deafness and hearing loss.
P2860
Q21092155-9B595C21-0E75-45C6-A42D-CC0DF176F740Q21245510-812ACA81-6361-4992-ADE1-817C1E57FF53Q24529109-DD009581-8A5C-404B-9E36-3D5BEE5CD978Q24652355-6342361A-828B-4F81-B067-88AB82C38F5EQ26827294-E5A36344-2ED9-4C55-879B-7BE50ED12CB5Q26829380-9605FD4B-6763-43FE-BB73-DBF9790AB7A7Q26865293-15503BC1-B175-4460-B0DB-A2BBC85DFC9FQ27002892-BBBAEE44-82FF-45A1-A609-E85B3BD743C7Q27009501-E9249020-92C4-4DB7-BAA9-F34B6F0D4B2EQ27012316-43E554BA-8223-4ED8-8470-C586D829AF68Q27014934-1E7E14D2-C203-4631-85B5-5D9054F214C2Q27333508-79BC42F8-7CD9-4C5E-89EC-0EBDCF9D6651Q27349033-0E31B7BE-DAB0-4929-8263-170322101A2BQ28076301-E220BDFD-C839-4CC4-B372-516A57FD404CQ28235511-4E07A9EE-2B52-4751-9F1C-C160B9C5D289Q28245955-6B843D96-D0C0-4E08-9306-76B534969E51Q28254582-39E2E9AD-AB4C-4FE3-BE0B-665D7B34819DQ28302365-3C37D245-3C43-4348-A1CE-8CD618B5F19AQ28507060-4CB5BF51-6923-4B8B-B216-B95C3091691DQ28728028-A37AA1A4-10F4-4353-AD12-7B2FB1898005Q28748215-FAF37231-DDA5-4C89-B420-CF93AD57852BQ30354373-0DA9A35B-E0F9-4C66-8276-2C2274777F96Q30354613-C6782AE1-CB22-4C13-9413-BBDEC82BB20BQ30362375-7202C46F-6D3B-43AE-9864-0F42C3B2107EQ30401037-C2FC20FF-7BD0-435B-863B-C30D9F463F23Q30409754-BD05AEE1-8C13-4E6D-9F97-E68F0303A861Q30413390-85453E9F-3A3E-4EBF-B9B7-55D22178B2F8Q30421422-80F679B8-A9A6-4A91-98C9-F9E8724BD049Q30435159-10FBD1F2-CAD2-41C3-A2ED-6809914ECAF2Q30464591-6AAA5EDA-C252-49D8-8412-B46E01DF2549Q30465350-5642B258-B1C5-4FC0-8FC8-AF740FC17913Q30466103-A86F5955-168C-4300-BF8B-D9D5F2DDEC59Q30471081-2362B85A-AEB8-4522-8C67-D9E8399641D9Q30472584-029918DE-C123-48CC-BBCE-04CC3AD52B0EQ30474322-6F66814E-F52B-4EE8-8468-96349F700B0BQ30474429-33115615-ACA0-4E4B-BAFB-BAECBFA05900Q30478884-B3F4A9B2-7FF4-405A-B9B4-02A685F9245DQ30479250-47666DFD-FC4B-4360-AF55-63061F31A7ECQ30484717-9A480E3E-75BD-4DB1-B11E-605C93CFB6EFQ30490087-9710884B-943F-4DF2-A05D-3C50F7F253E8
P2860
Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential
description
2003 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հունվարին հրատարակված գիտական հոդված
@hy
article
@en
im Januar 2003 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel (gepubliceerd op 2003/01/01)
@nl
наукова стаття, опублікована в січні 2003
@uk
مقالة علمية (نشرت عام 2003)
@ar
ലേഖനം
@ml
name
Connexin30 (Gjb6)-deficiency c ...... lack of endocochlear potential
@ast
Connexin30 (Gjb6)-deficiency c ...... lack of endocochlear potential
@en
type
label
Connexin30 (Gjb6)-deficiency c ...... lack of endocochlear potential
@ast
Connexin30 (Gjb6)-deficiency c ...... lack of endocochlear potential
@en
prefLabel
Connexin30 (Gjb6)-deficiency c ...... lack of endocochlear potential
@ast
Connexin30 (Gjb6)-deficiency c ...... lack of endocochlear potential
@en
P3181
P356
P1476
Connexin30 (Gjb6)-deficiency c ...... lack of endocochlear potential
@en
P2093
B. Teubner
P3181
P356
10.1093/HMG/DDG001
P577
2003-01-01T00:00:00Z