The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome. - Wikidata - thesis-toulmin - TriplyDB

The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome.

The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome.

http://www.wikidata.org/entity/Q30428153

about

Diseases associated with leaky hemichannels Connexin hemichannel and pannexin channel electrophysiology: how do they differ?The role of connexins in ear and skin physiology - functional insights from disease-associated mutations Genetics of hearing and deafness Aberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: insights into syndromic hearing loss Altered inhibition of Cx26 hemichannels by pH and Zn2+ in the A40V mutation associated with keratitis-ichthyosis-deafness syndrome Gating of Connexin Channels by transjunctional-voltage: Conformations and models of open and closed states.Cx46 hemichannels contribute to the sodium leak conductance in lens fiber cells Pathogenic connexin-31 forms constitutively active hemichannels to promote necrotic cell death Connexin46fs380 causes progressive cataracts.Carbon monoxide (CO) is a novel inhibitor of connexin hemichannels.Revertant mutation releases confined lethal mutation, opening Pandora's box: a novel genetic pathogenesis Connexin 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 glimpse Altered epidermal lipid processing and calcium distribution in the KID syndrome mouse model Cx26S17F.Cx26 knockout predisposes the mammary gland to primary mammary tumors in a DMBA-induced mouse model of breast cancer The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity Connexin channel modulators and their mechanisms of action.Connexins: sensors of epidermal integrity that are therapeutic targets.Mechanisms linking connexin mutations to human diseases.Connexins: junctional and non-junctional modulators of proliferation.Connexins and skin disease: insights into the role of beta connexins in skin homeostasis.Connexin channels in congenital skin disorders.Somatic Mosaicism for a "Lethal" GJB2 Mutation Results in a Patterned Form of Spiny Hyperkeratosis without Eccrine Involvement.Genetically modified laboratory mice with sebaceous glands abnormalities.Charge at the 46th residue of connexin 50 is crucial for the gap-junctional unitary conductance and transjunctional voltage-dependent gating.Human diseases associated with connexin mutations.Differential susceptibility of Cx26 mutations associated with epidermal dysplasias to peptidoglycan derived from Staphylococcus aureus and Staphylococcus epidermidis.Disease-linked connexin26 S17F promotes volar skin abnormalities and mild wound healing defects in mice Possible role of hemichannels in cancer.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 Disorders Altered cellular localization and hemichannel activities of KID syndrome associated connexin26 I30N and D50Y mutations.A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment.Pathogenic Cx31 is un/misfolded to cause skin abnormality via a Fos/JunB-mediated mechanism.Functional Characterization of Novel Atrial Fibrillation-Linked GJA5 (Cx40) Mutants.Roles of aberrant hemichannel activities due to mutant connexin26 in the pathogenesis of KID syndrome Concatenation of Human Connexin26 (hCx26) and Human Connexin46 (hCx46) for the Analysis of Heteromeric Gap Junction Hemichannels and Heterotypic Gap Junction Channels

P2860

Q26797404-A028B1E5-D81B-493A-A7FF-3A6C83299EE7 Q26824824-EC5040D7-24AF-4EDD-989E-44C5F664452F Q26827294-A87961F1-3CC9-4DF7-9991-83F0048C9B83 Q26865293-6F090C88-B6A8-4AD3-B03F-ADF8BA903A2F Q27002992-681D910E-90CB-4789-B912-218101A4B1B5 Q28391552-13BBEB24-0684-4230-8AE8-C3A24BB940FE Q30401716-8354D45B-9B16-45D8-B999-822964F2671E Q33702897-0827D03A-B0DA-4707-8B42-C09357B103C6 Q34185915-32F02F00-0AB9-49F5-8D7D-C5D14C2D4A98 Q34391848-982D7CC8-69D8-49C8-A266-E3C5F13492CF Q34774559-A6E704CA-F6D6-4700-8D9A-2C1CC870765B Q35160732-76BA0A9C-89BE-43A7-B9D4-E203E06C9F64 Q35668477-EA64F5D2-2E95-4538-8432-74353563AC8E Q35857325-D1DBCD8D-B705-4815-8254-9FFA13119944 Q36031035-7100376F-D1F1-4CBB-B757-EB2D0288F044 Q36543660-6BF4B629-5A32-40DF-B3C1-28F0E6C52F51 Q36545695-28DD158E-4DF5-4709-A513-1A593D3889DF Q36923559-4AE7167C-4579-4CF7-B12E-D1A48D99B486 Q38099907-17C35A13-C3DC-4077-A143-571B628E5E4E Q38194341-8A3DF1AB-F9B4-4910-A875-3BA08CA1A896 Q38268356-71A6F436-54A8-45FA-96A7-B6F60F178326 Q38303074-954ADB70-2963-47BE-BD8A-84CDCB56EA08 Q38330396-46EC73B2-0310-44BB-B05D-AC6F75258FB9 Q38699139-884CBEE4-BB05-49E0-8CDE-872C5A861F64 Q38810653-AC384D35-4162-4AC8-AFA9-FB98BCD55B37 Q38908417-A7505F11-DE4B-41CE-9E2D-EBFF7B0750E3 Q38952999-D74EEEA0-CE99-403E-8994-C8F90D54986C Q39273628-1D7D415F-715D-480C-9D30-4576062DB75D Q39340613-A0DE13B0-9AE8-4D4B-B1AD-FD81777E6169 Q41084037-C47C57E4-CA0E-47C7-8297-56C7CA5A9CA2 Q41362182-CEFA709E-BD39-4FBE-919D-CEC4DD3F7B0D Q41946636-BD448C0A-EE17-4853-914D-6B1FE622DDE2 Q42057370-E4755BE5-10AB-4BE2-83CB-2D392DCD33A1 Q42172814-74415C36-5FFC-4737-8965-1E9FB09C01F5 Q42205663-54156E6C-7042-4B48-B520-D672523BF2BF Q44775711-7A52B735-5415-4E92-8340-3B633B998CB7 Q52662567-0C7272B6-31D1-424A-B34B-25DCEE981221 Q54982339-452FEFA9-0E0F-43E9-9A2A-2954A268AB4B Q58701520-36615D8B-43CD-4E43-BA63-164C0CE44427 Q58742492-8ED1FC6B-4016-4A54-B296-A097D741BF3F

P2860

The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome.

http://www.wikidata.org/entity/Q30428153

description

2011 nî lūn-bûn

@nan

2011 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2011年の論文

@ja

2011年論文

@yue

2011年論文

@zh-hant

2011年論文

@zh-hk

2011年論文

@zh-mo

2011年論文

@zh-tw

2011年论文

@wuu

name

The Cx26-G45E mutation display ...... -ichthyosis-deafness syndrome.

@ast

The Cx26-G45E mutation display ...... -ichthyosis-deafness syndrome.

@en

type

label

The Cx26-G45E mutation display ...... -ichthyosis-deafness syndrome.

@ast

The Cx26-G45E mutation display ...... -ichthyosis-deafness syndrome.

@en

prefLabel

The Cx26-G45E mutation display ...... -ichthyosis-deafness syndrome.

@ast

The Cx26-G45E mutation display ...... -ichthyosis-deafness syndrome.

@en

P1433

Q30428153-B4CEF3BB-59B1-46B6-A68D-BA67100600B2

P1476

Q30428153-065717AC-578C-4CB4-8961-37BA18818459

P2093

Q30428153-2232FAF4-4F08-4DBA-B845-FA46AC0316DB

Q30428153-512D856A-89A7-4AB3-B4B0-87C673A08968

Q30428153-7407BD5E-5720-40BC-A35B-46FBC18589C5

Q30428153-AD6F71C5-DACD-47B9-B5F6-3E0E3F3A6FA7

Q30428153-BE5FEDF5-12DF-45E2-A8C0-60E9D6DF8CBF

Q30428153-C77A07AC-241A-428B-AE61-B50E7B21985D

Q30428153-DC130C44-D36F-4B8C-83BB-77295AB3C095

Q30428153-E86E01E9-4BFF-480E-88AD-37B8D997DADF

P2860

Q30428153-072D4D25-B36F-4798-A593-B655A646F3A5

Q30428153-07C8553B-D29A-45A9-B2D2-5163AA53A1EA

Q30428153-0FD2B78C-813F-47E0-A7F1-D260E240B844

Q30428153-1002A3A7-4C98-4B94-9DAF-A9CE9F4E1AD9

Q30428153-11F231D8-C136-446C-91F7-A7519C2921F7

Q30428153-12EBD9DE-8835-49D2-B4FC-FD87CFE26804

Q30428153-136EF684-0DD3-473D-9DDB-B4C9816544FC

Q30428153-145E4376-3BF2-4D7C-8665-1150D2D25821

Q30428153-17FC9A53-8451-4F82-95C3-58CCBEE3A8AE

Q30428153-1ACDBA05-6432-4BC3-AC12-410B83F7626E

P304

Q30428153-E555973C-6A0D-4534-832F-E32FDB3A0ACA

P31

Q30428153-33E9E5D0-5626-4518-8A2B-F3CA05D565E2

P356

Q30428153-5B8B920A-E112-45EB-85DE-51AE2771106F

P433

Q30428153-8FD5929F-98ED-4E51-950C-BACBB62453C0

P478

Q30428153-61E52C0D-E2F9-4AE8-A281-0A897BD97ADB

P577

Q30428153-BF32496F-06B3-4F73-97DC-3499BE59D052

P5875

Q30428153-60883E8D-B4BA-4364-92A9-5BDD6D2E23A2

P698

Q30428153-94CC6E4C-1A1D-4BA9-95E0-655210455321

P932

Q30428153-BA041B39-9DE0-4EEC-BE89-0B45DD45C28B

P356

MBC.E11-09-0778

P1433

Molecular Biology of the Cell

P1476

The Cx26-G45E mutation display ...... -ichthyosis-deafness syndrome.

@en

P2093

Caterina Sellitto

http://www.w3.org/2001/XMLSchema#string

Gabriele Richard

http://www.w3.org/2001/XMLSchema#string

Gulistan Mese

http://www.w3.org/2001/XMLSchema#string

Hong-Zhan Wang

http://www.w3.org/2001/XMLSchema#string

Leping Li

http://www.w3.org/2001/XMLSchema#string

Peter R Brink

http://www.w3.org/2001/XMLSchema#string

Thomas W White

http://www.w3.org/2001/XMLSchema#string

Virginijus Valiunas

http://www.w3.org/2001/XMLSchema#string

P2860

Epidermal homeostasis: a balancing act of stem cells in the skin

Bulk isolation of mouse hepatocyte gap junctions. Characterization of the principal protein, connexin

Hexagonal array of subunits in intercellular junctions of the mouse heart and liver

THE OCCURRENCE OF A SUBUNIT PATTERN IN THE UNIT MEMBRANES OF CLUB ENDINGS IN MAUTHNER CELL SYNAPSES IN GOLDFISH BRAINS

New roles for astrocytes: gap junction hemichannels have something to communicate

Expression of gap junction proteins Cx26, Cx31.1, Cx37, and Cx43 in developing and mature rat epidermis

Emerging issues of connexin channels: biophysics fills the gap.

Beyond the gap: functions of unpaired connexon channels.

Genetic diseases and gene knockouts reveal diverse connexin functions.

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.

P304

4776-4786

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1091/MBC.E11-09-0778

http://www.w3.org/2001/XMLSchema#string

P433

24

http://www.w3.org/2001/XMLSchema#string

P478

22

http://www.w3.org/2001/XMLSchema#string

P577

2011-10-26T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

51749077

http://www.w3.org/2001/XMLSchema#string

P698

22031297

http://www.w3.org/2001/XMLSchema#string

P932

3237621

http://www.w3.org/2001/XMLSchema#string