Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss.
about
Gap junctions and cochlear homeostasisConnexin 26 mutations in autosomal recessive deafness disorders: a reviewThe Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome.Etiology and audiological outcomes at 3 years for 364 children in Australia.Gap-junction channels dysfunction in deafness and hearing loss.A Mayan founder mutation is a common cause of deafness in Guatemala.Gap junction-mediated intercellular biochemical coupling in cochlear supporting cells is required for normal cochlear functions.Zebrafish cx30.3: identification and characterization of a gap junction gene highly expressed in the skinConnexin26 is responsible for anionic molecule permeability in the cochlea for intercellular signalling and metabolic communicationsSpectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients.Mechanism for modulation of gating of connexin26-containing channels by taurine.Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population.Epidemiology and molecular genetics of congenital cataractsConnexinopathies: a structural and functional glimpseGap junction channels exhibit connexin-specific permeability to cyclic nucleotides.Projection structure of a N-terminal deletion mutant of connexin 26 channel with decreased central pore density.The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activityThe D50N mutation and syndromic deafness: altered Cx26 hemichannel properties caused by effects on the pore and intersubunit interactions.Connexin26 deafness associated mutations show altered permeability to large cationic moleculesDigenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.Connexins in respiratory and gastrointestinal mucosal immunity.Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataract.Secondary structural analysis of the carboxyl-terminal domain from different connexin isoforms.A deafness-associated mutant human connexin 26 improves the epithelial barrier in vitro.Role of the cytoplasmic loop domain of Cx43 in its intracellular localization and function: possible interaction with cadherin.Genetics of non syndromic hearing loss in the republic of macedonia.Research of genetic bases of hereditary non-syndromic hearing loss.Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness.Compound heterozygous GJB2 mutations associated to a consanguineous Han family with autosomal recessive non-syndromic hearing loss.Spectrum of GJB2 mutations in Cypriot nonsyndromic hearing loss subjects.The Structural Context of Disease-causing Mutations in Gap JunctionsExpert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
P2860
Q28245955-81CBEA3A-6543-4716-A09D-B322FAD2E673Q28293305-BF3A057A-1D98-48D0-BA63-2294715EC53FQ30428153-31B1CE2E-B031-4633-956D-A97829E7980BQ30455691-8ABA5654-A2D0-485A-8B2A-4C3422128773Q30490087-5E8D5BAF-390E-4B55-93BA-4693D0B0C1BCQ33835353-59F75F8D-DD34-42D3-91D5-FB59B401AB16Q34084948-CCD42D88-42B5-4A77-AADC-B6C663612B8BQ34258992-523C4EF6-0E3C-42D3-9E54-17E3FDFEA312Q34415753-A6A578A8-954A-4314-997A-90B436007BD3Q34718949-654A783E-53FC-43DC-8408-45ECD3303F79Q35208333-00979FEE-5293-420A-B62F-BB350E544BB4Q35659718-83DA53E9-EBCC-4EDA-A9D2-1A3B2583F448Q35924280-A1A20168-350A-4464-B186-363C5FFB57CBQ36031035-97EB3663-DD31-4650-B1FB-6128D6F7D97AQ36517757-9E1A0856-1073-49D5-9FE6-9B43104718B1Q36857040-1AD003A3-B7BA-4248-9AB0-077A975838CEQ36923559-46F413B9-9E44-4593-93C7-4DCB5C114924Q36951959-213487F3-BA72-40E0-8B04-A25DAB72A5C2Q36955841-66F5B51C-8512-41C1-AA7E-C7E69F3C13D9Q37332766-5997353E-7F61-4634-96AB-F60002D00197Q37397290-0FB7914F-F24B-4542-BCC5-272CB57DDAAEQ38196155-7D89B74F-90D6-4838-AD7F-35718F4B4A03Q38615181-9C2C0382-5169-47E3-AADC-A057AB557265Q39707325-0D260EE7-A17A-4D5D-8E06-404346FA917DQ39807645-419CC4A8-B915-437F-BE54-A20DA266AE88Q40107825-57233E30-D121-4F67-B201-C2B555292E25Q41926500-DED017AC-B705-4F37-87F0-7195A9E06AC2Q47135798-EB761CE5-EA15-4CBA-B878-10F415AB9216Q48795296-4A5CB293-A5CF-4D1F-B8A5-445986D991A7Q50316779-442AC6EE-DDCE-4A9B-9718-83C541CDF248Q50354388-A56768CB-2E55-4A04-9809-3CBE1414BF80Q57207105-12EBC035-C4B7-4D72-9EB1-00C4B615408DQ57455558-F3B2321F-63A0-42A8-AA9A-72AC1680368B
P2860
Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年学术文章
@wuu
2004年学术文章
@zh
2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
@zh-my
2004年学术文章
@zh-sg
2004年學術文章
@yue
2004年學術文章
@zh-hant
name
Altered gating properties of f ...... ve non-syndromic hearing loss.
@en
Altered gating properties of f ...... ve non-syndromic hearing loss.
@nl
type
label
Altered gating properties of f ...... ve non-syndromic hearing loss.
@en
Altered gating properties of f ...... ve non-syndromic hearing loss.
@nl
prefLabel
Altered gating properties of f ...... ve non-syndromic hearing loss.
@en
Altered gating properties of f ...... ve non-syndromic hearing loss.
@nl
P2093
P2860
P1433
P1476
Altered gating properties of f ...... ive non-syndromic hearing loss
@en
P2093
Gülistan Meşe
Peter R Brink
Rickie Mui
Thomas W White
P2860
P2888
P304
P356
10.1007/S00439-004-1142-6
P50
P577
2004-07-07T00:00:00Z