Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential
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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 deafnessCellular 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 diseasesNovel 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.Gap 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.Hypothesis of K+-Recycling Defect Is Not a Primary Deafness Mechanism for Cx26 (GJB2) DeficiencyMouse Panx1 Is Dispensable for Hearing Acquisition and Auditory Function.
P2860
Q21092155-E6D27595-C162-458B-9365-4704E604AECDQ21245510-F888ABBA-3835-4255-8284-0244E1DD5234Q24529109-F33DFD11-A0B7-48C9-B6E6-FC9FBC4A0B2AQ24652355-77DD3D20-DD86-4A78-BB47-0065C8466B5DQ26827294-92A53C40-C208-469D-BEC4-33E97FFF9345Q26829380-EB521F5C-8285-478A-879A-A40AA5521F60Q26865293-677659C7-ABA3-4D19-9F1B-6A6754A2BE76Q27009501-9F19FFF6-A766-43DD-A339-887771B3AC44Q27012316-3BA6883F-3EE1-4B6F-8867-9433815567D1Q27333508-64CD0174-B71C-4187-B5A8-CF8C80E43317Q27349033-5559E4DE-E58B-4E1D-B0CA-DCB834524048Q28076301-75F8FAD2-D63E-4DA6-A01F-3AD3C1C69218Q28245955-1BE6283C-086F-4766-A4CC-4C61B41916B0Q28254582-903A73B1-546C-4407-A257-DB21F7F9A2FAQ28302365-07CBF87A-2FBC-4473-AAD2-447DF65D899AQ28507060-E9DFC90E-F248-40F3-9889-243BCC9426DAQ28728028-6D69BBB9-6BB6-4BAC-B9CC-0463EAFBC4ADQ28748215-379CC875-078C-4E87-86D7-E58129F0AD13Q30354613-26ADBFE5-9819-498F-BF68-949C5E80148DQ47101172-A58B0493-6C5D-4CF3-98B9-FBC451C286C3
P2860
Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential
description
2003 nî lūn-bûn
@nan
2003 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Connexin30 (Gjb6)-deficiency c ...... lack of endocochlear potential
@ast
Connexin30 (Gjb6)-deficiency c ...... lack of endocochlear potential
@en
Connexin30 (Gjb6)-deficiency c ...... lack of endocochlear potential
@nl
type
label
Connexin30 (Gjb6)-deficiency c ...... lack of endocochlear potential
@ast
Connexin30 (Gjb6)-deficiency c ...... lack of endocochlear potential
@en
Connexin30 (Gjb6)-deficiency c ...... lack of endocochlear potential
@nl
prefLabel
Connexin30 (Gjb6)-deficiency c ...... lack of endocochlear potential
@ast
Connexin30 (Gjb6)-deficiency c ...... lack of endocochlear potential
@en
Connexin30 (Gjb6)-deficiency c ...... lack of endocochlear potential
@nl
P2093
P356
P1476
Connexin30 (Gjb6)-deficiency c ...... lack of endocochlear potential
@en
P2093
Barbara Teubner
Claus Herberhold
Elke Winterhager
Goran Söhl
Jörg Pesch
Jürgen Lautermann
Klaus Jahnke
Klaus Willecke
Martine Cohen-Salmon
Vincent Michel
P356
10.1093/HMG/12.1.13
P407
P577
2003-01-01T00:00:00Z