The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity
about
Diseases associated with leaky hemichannelsAberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: insights into syndromic hearing lossAltered inhibition of Cx26 hemichannels by pH and Zn2+ in the A40V mutation associated with keratitis-ichthyosis-deafness syndromeExtracellular gentamicin reduces the activity of connexin hemichannels and interferes with purinergic Ca(2+) signaling in HeLa cells.Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26.Cx46 hemichannels contribute to the sodium leak conductance in lens fiber cellsThe connexin46 mutant, Cx46T19M, causes loss of gap junction function and alters hemi-channel gatingConnexin 43 deficiency accelerates skin wound healing and extracellular matrix remodeling in mice.The First Extracellular Domain Plays an Important Role in Unitary Channel Conductance of Cx50 Gap Junction Channels.Connexinopathies: a structural and functional glimpseA novel homozygous mutation in the EC1/EC2 interaction domain of the gap junction complex connexon 26 leads to profound hearing impairmentConnexin and pannexin (hemi)channels in the liver.Connexins: sensors of epidermal integrity that are therapeutic targets.Mechanisms linking connexin mutations to human diseases.Connexins and skin disease: insights into the role of beta connexins in skin homeostasis.Connexin channels in congenital skin disorders.Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasiaA structural and functional comparison of gap junction channels composed of connexins and innexinsHuman diseases associated with connexin mutations.Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO2.Aberrant connexin26 hemichannels underlying keratitis-ichthyosis-deafness syndrome are potently inhibited by mefloquine.Connexin hemichannels influence genetically determined inflammatory and hyperproliferative skin diseases.Design and Characterization of a Human Monoclonal Antibody that Modulates Mutant Connexin 26 Hemichannels Implicated in Deafness and Skin DisordersCharacterization of a novel water pocket inside the human Cx26 hemichannel structure.Altered cellular localization and hemichannel activities of KID syndrome associated connexin26 I30N and D50Y mutations.Altered CO2 sensitivity of connexin26 mutant hemichannels in vitroConnexin26 Mutations Causing Palmoplantar Keratoderma and Deafness Interact with Connexin43, Modifying Gap Junction and Hemichannel Properties.Drowning out communication. Focus on "The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity".A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment.Induction of cell death and gain-of-function properties of connexin26 mutants predict severity of skin disorders and hearing loss.
P2860
Q26797404-B156B3D9-B387-4A26-8CA5-A19CBD07EFA6Q27002992-EA1B2CF7-1F75-4C79-9C03-BAD4C8DE0025Q28391552-D482963B-2A41-4CC5-834E-BF56011F601CQ30430702-EC007781-6243-49B2-9560-82B7E738541EQ30847249-EB7FFF5F-A530-47BE-93FA-23C6217F5E8BQ33702897-3C08E221-92DB-4E15-9925-8D3D08A2D14BQ34990414-6C8A7818-A50E-4B14-B21D-91FA6CE530BDQ35668477-F07783F6-2945-4759-BBAA-C7227E021A33Q35857325-68630AA6-93B9-4BAD-BAB0-D9A9ABF15C2AQ36031035-D2624A01-528D-416B-9749-1ECCFC71A371Q37556411-6DFFE7FD-2CE1-43CD-BFB2-0E04C0E033B7Q38181075-467575CB-4123-4679-BC18-96DB3841F17CQ38194341-4AE02842-2134-48B9-962B-1D4C59D76F51Q38268356-2398F119-5800-4D7C-80B5-AE02EA84072CQ38330396-1AC7F910-58C0-457B-BEFE-993D3DE6A512Q38699139-91BDD290-FD0B-4FB9-8EBE-EA5493DEEB31Q38862310-E7B715FD-C752-4B7B-9E54-FADDFCAAC779Q38942940-2A9B2A12-2528-4617-830C-A65275E86888Q39273628-20813D12-917F-4F9F-B6FE-9D78889BDED8Q41820625-C4809B28-D024-461F-8609-8119467B2D58Q41946636-B8092EC5-F3C3-4132-BF3E-49B259502C9DQ42057370-325C93C8-6080-4F83-A118-6A565B9B3BF9Q42172814-92B6A4F2-8388-4D9D-915E-938599A15D13Q42183057-1991860C-2BC4-4D18-B3A9-0D46B1601E7BQ42205663-B0924365-8783-44FE-AC07-A297DF5922D2Q42315386-D1C1259D-4BD0-4CA2-9556-9278328D42F8Q42951334-629C9061-1CBE-46DA-8B77-9D9DF80C70C5Q42967164-3725D1F0-6F8A-4BF2-8B80-D84E9F033424Q44775711-EB1452E0-3B03-4E2A-AFFE-024BF72126F3Q50347033-DC26E57D-397B-4046-80E7-EDA6FEC5C17A
P2860
The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
The human Cx26-D50A and Cx26-A ...... increased hemichannel activity
@en
type
label
The human Cx26-D50A and Cx26-A ...... increased hemichannel activity
@en
prefLabel
The human Cx26-D50A and Cx26-A ...... increased hemichannel activity
@en
P2093
P2860
P1476
The human Cx26-D50A and Cx26-A ...... increased hemichannel activity
@en
P2093
Hong-Zhan Wang
Jack R Lee
Noah A Levit
Pallavi V Mhaske
Peter R Brink
Zunaira Shuja
P2860
P304
P356
10.1152/AJPCELL.00374.2012
P577
2013-02-27T00:00:00Z