Pathogenic Cx31 is un/misfolded to cause skin abnormality via a Fos/JunB-mediated mechanism.

about

Erythrokeratodermia variabilis et progressiva.

P2860

Q38761884-2D6B2586-A716-4C14-8DF1-5F7C2B0E3690

P2860

Pathogenic Cx31 is un/misfolded to cause skin abnormality via a Fos/JunB-mediated mechanism.

Item

http://www.wikidata.org/entity/Q52662567

description

2015 nî lūn-bûn

@nan

2015年の論文

@ja

2015年学术文章

@wuu

2015年学术文章

@zh

2015年学术文章

@zh-cn

2015年学术文章

@zh-hans

2015年学术文章

@zh-my

2015年学术文章

@zh-sg

2015年學術文章

@yue

2015年學術文章

@zh-hant

name

Pathogenic Cx31 is un/misfolde ...... a Fos/JunB-mediated mechanism.

@en

Pathogenic Cx31 is un/misfolde ...... a Fos/JunB-mediated mechanism.

@nl

type

Item

label

Pathogenic Cx31 is un/misfolde ...... a Fos/JunB-mediated mechanism.

@en

Pathogenic Cx31 is un/misfolde ...... a Fos/JunB-mediated mechanism.

@nl

prefLabel

Pathogenic Cx31 is un/misfolde ...... a Fos/JunB-mediated mechanism.

@en

Pathogenic Cx31 is un/misfolde ...... a Fos/JunB-mediated mechanism.

@nl

P1476

Pathogenic Cx31 is un/misfolde ...... a Fos/JunB-mediated mechanism.

@en

P2093

Chengyuan Tang

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

Danling Wang

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

Dawei Yang

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

Jianbing Fan

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

Jingwei Chi

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

Mujun Liu

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

Qian Pan

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

Shu Liu

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

Xiang Chen

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

Zhuohua Zhang

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

P2860

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation

Connexin 26 regulates epidermal barrier and wound remodeling and promotes psoriasiform response.

Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis

The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment

Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations

Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells

A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein

Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment

P304

6054-6065

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

P31

scholarly article

P356

10.1093/HMG/DDV317

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

P433

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

P478

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

P577

2015-08-06T00:00:00Z

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

P5875

280843861

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

P698

26251042

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

Pathogenic Cx31 is un/misfolded to cause skin abnormality via a Fos/JunB-mediated mechanism.

about

P2860

P2860

Pathogenic Cx31 is un/misfolded to cause skin abnormality via a Fos/JunB-mediated mechanism.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P5875

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P5875

P698