Cataracts are caused by alterations of a critical N-terminal positive charge in connexin50 - Wikidata - awgldk - TriplyDB

Cataracts are caused by alterations of a critical N-terminal positive charge in connexin50

Cataracts are caused by alterations of a critical N-terminal positive charge in connexin50

http://www.wikidata.org/entity/Q37222714

about

Structural organization of intercellular channels II. Amino terminal domain of the connexins: sequence, functional roles, and structure Articular chondrocyte network mediated by gap junctions: role in metabolic cartilage homeostasis.A novel GJA8 mutation (p.V44A) causing autosomal dominant congenital cataract.Different consequences of cataract-associated mutations at adjacent positions in the first extracellular boundary of connexin50 The connexin46 mutant, Cx46T19M, causes loss of gap junction function and alters hemi-channel gating Connexinopathies: a structural and functional glimpse Connexin mutants and cataracts Properties of two cataract-associated mutations located in the NH2 terminus of connexin 46.Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts.The N terminus of connexin37 contains an alpha-helix that is required for channel function.The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation.An intact connexin N-terminus is required for function but not gap junction formation Connexin hemichannels in the lens.Structure-function correlation analysis of connexin50 missense mutations causing congenital cataract: electrostatic potential alteration could determine intracellular trafficking fate of mutants.A cataract-causing connexin 50 mutant is mislocalized to the ER due to loss of the fourth transmembrane domain and cytoplasmic domain Identification of a novel GJA3 mutation in a large Chinese family with congenital cataract using targeted exome sequencing.A mutant connexin50 with enhanced hemichannel function leads to cell death.Characteristics of ethylnitrosourea-induced cataracts.Cataract-associated D3Y mutation of human connexin46 (hCx46) increases the dye coupling of gap junction channels and suppresses the voltage sensitivity of hemichannels.Delineation of Novel Autosomal Recessive Mutation in GJA3 and Autosomal Dominant Mutations in GJA8 in Pakistani Congenital Cataract Families.

P2860

Q27009167-EE8B0ECB-BAE9-449D-8ACD-4679FAC6B991 Q33880205-41E5E80B-58A6-45AC-A4B2-D7D02FFA297A Q34724585-4F541BD0-B61B-48A9-96AB-D33791715BD0 Q34979286-7F379AED-589B-42CB-B090-A9FE8A4E4288 Q34990414-E86A6C23-1DC6-4167-9A1C-288ACB713DEC Q36031035-AFD7B251-949A-410F-8AE7-C29FD1A74CBB Q36763879-107DF531-6FA4-457A-86AA-CD47C27CA19B Q36836123-57CB4E28-129E-4265-B601-B783467E626B Q36928431-0DA5FFDD-8627-4681-81ED-002FBBC39FD4 Q37339083-2650AA49-24FF-4ED4-9F5B-2EC047D4FD24 Q37346452-3AF58B6E-F080-423E-B512-3A71E93A1B63 Q37363184-8C6442C1-7EA2-4FBC-906F-1678E943EE0B Q38191602-169D957A-B1C8-4458-BAD3-CF551E8BD703 Q40998290-71529E5B-98B3-4C14-853D-A6AC11292F51 Q41262299-4B06831A-AD91-4747-B153-8639627A7763 Q41634572-55531E08-4158-4AAA-A02B-CA7B1AC4BEEF Q42699037-B408A59B-F39F-4836-BB4D-1D7F41D7B4CF Q46032741-1B3C4669-7AD4-49A3-BEAD-56280F8ADF26 Q48643275-5E65F9E8-FD44-48F9-88F1-CB2D3DA0F066 Q52693054-7C5A5E15-810F-49FC-99D6-80FB3C3FC278

P2860

Cataracts are caused by alterations of a critical N-terminal positive charge in connexin50

http://www.wikidata.org/entity/Q37222714

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on 07 March 2008

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Cataracts are caused by altera ...... positive charge in connexin50

@en

Cataracts are caused by altera ...... positive charge in connexin50.

@nl

type

label

Cataracts are caused by altera ...... positive charge in connexin50

@en

Cataracts are caused by altera ...... positive charge in connexin50.

@nl

prefLabel

Cataracts are caused by altera ...... positive charge in connexin50

@en

Cataracts are caused by altera ...... positive charge in connexin50.

@nl

P1433

Q37222714-9B96A722-2691-4F68-A4BF-3938737FDCD6

P1476

Q37222714-BF50A106-E115-490C-86FD-002F3DF5DD0D

P2093

Q37222714-0047F062-1579-494C-A2A5-EA4460D05799

Q37222714-43522407-FEA0-494C-89FB-DD81552CB184

Q37222714-525A824A-1B1A-4B2C-B25A-ECE842B97E8A

Q37222714-B7708968-1991-46EA-9944-C34C99B54CBB

Q37222714-C2712B6B-3937-4B9B-844A-10682235A7D5

Q37222714-C3CD26EA-9056-409C-A772-44B1DEC7F09D

Q37222714-C5F57621-33DF-4289-A885-9DCCA909E58E

P2860

Q37222714-0527EB58-416C-4E73-A65A-C52528156504

Q37222714-086258CB-7579-422E-A42C-7AF1D934C757

Q37222714-09C1D076-6C54-4E29-9455-D2754217B4E8

Q37222714-0A9E18E6-7813-41AA-90A3-F1B06E85291C

Q37222714-0C59040A-B377-44EF-AC70-8501D22FB2ED

Q37222714-0CE8F32B-3C5E-497E-BBB9-381286BDA8C0

Q37222714-15C6FFFC-0B46-49A8-89CD-ECEFD2822596

Q37222714-16418093-3B49-445C-8DC8-4A7C54A32029

Q37222714-1C322A83-D671-4F13-9A17-9B293AF06A8C

Q37222714-256E3A9F-7137-401D-9CE1-37D1205D8262

P304

Q37222714-FE0C7115-5D6E-4D55-B408-95BCBC9045EE

P31

Q37222714-47B0DD1A-8D9C-4F35-80E5-3FD27DB17A6C

P356

Q37222714-B0F48263-4AF6-4C22-A97D-98D0053B8360

P407

Q37222714-448A674F-04F6-480D-A548-7AE8A31F5B35

P433

Q37222714-AAC1FB50-834D-4ED7-B698-20239C9B2F02

P478

Q37222714-284901E0-FD30-4D6E-9B22-640D938B4265

P577

Q37222714-034A6E71-0D52-42B8-AE0E-4FA3DC344AD7

P5875

Q37222714-88128713-439B-4496-AE44-1F5841244096

P698

Q37222714-8A018211-46AD-4EAF-8FB2-53F7E3F217E1

P932

Q37222714-D0069F66-66BC-4605-B475-B484489E3AA0

P356

P1433

Investigative Ophthalmology & Visual Science

P1476

Cataracts are caused by altera ...... positive charge in connexin50

@en

P2093

Bettina C Thomas

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

Eric C Beyer

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

Giedrius Kanaporis

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

Peter J Minogue

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

Peter R Brink

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

Virginijus Valiunas

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

Viviana M Berthoud

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

P2860

Connexin46 mutations in autosomal dominant congenital cataract.

Disruption of alpha3 connexin gene leads to proteolysis and cataractogenesis in mice

A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia

Global data on visual impairment in the year 2002

Functional role of the carboxyl terminal domain of human connexin 50 in gap junctional channels

A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract

A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance

Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3)

A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract

P304

2549-2556

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

P31

scholarly article

P356

10.1167/IOVS.07-1658

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

P407

P433

6

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

P478

49

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

P577

2008-03-07T00:00:00Z

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

P5875

5524938

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

P698

18326694

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

P932

2694449

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