MAFA missense mutation causes familial insulinomatosis and diabetes mellitus.

about

MAFA missense mutation causes familial insulinomatosis and diabetes mellitus.

Item

http://www.wikidata.org/entity/Q48232244

description

2018 nî lūn-bûn

@nan

2018年の論文

@ja

2018年学术文章

@wuu

2018年学术文章

@zh

2018年学术文章

@zh-cn

2018年学术文章

@zh-hans

2018年学术文章

@zh-my

2018年学术文章

@zh-sg

2018年學術文章

@yue

2018年學術文章

@zh-hant

name

MAFA missense mutation causes familial insulinomatosis and diabetes mellitus.

@en

MAFA missense mutation causes familial insulinomatosis and diabetes mellitus.

@nl

type

Item

label

MAFA missense mutation causes familial insulinomatosis and diabetes mellitus.

@en

MAFA missense mutation causes familial insulinomatosis and diabetes mellitus.

@nl

prefLabel

MAFA missense mutation causes familial insulinomatosis and diabetes mellitus.

@en

MAFA missense mutation causes familial insulinomatosis and diabetes mellitus.

@nl

P1476

MAFA missense mutation causes familial insulinomatosis and diabetes mellitus.

@en

P2093

Andrea Frilling

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

Bence Sipos

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

Björn Konukiewitz

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

Bruno Niederle

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

Donato Iacovazzo

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

Emanuel Christ

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

Emily Walker

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

Fernando Antonio de Sousa Barros

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

Günter Klöppel

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

Ketan Dhatariya

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

P2860

MafA is a glucose-regulated and pancreatic beta-cell-specific transcriptional activator for the insulin gene

Frequent dysregulation of the c-maf proto-oncogene at 16q23 by translocation to an Ig locus in multiple myeloma

Phosphorylation of MafA is essential for its transcriptional and biological properties

v-maf, a viral oncogene that encodes a "leucine zipper" motif

The MafA transcription factor appears to be responsible for tissue-specific expression of insulin

Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma

Overexpression of c-maf is a frequent oncogenic event in multiple myeloma that promotes proliferation and pathological interactions with bone marrow stroma

Overexpression of c-Maf contributes to T-cell lymphoma in both mice and human

Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene

GSK-3-mediated phosphorylation enhances Maf-transforming activity

P304

1027-1032

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

P31

scholarly article

P356

10.1073/PNAS.1712262115

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

P407

English

P433

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

P478

115

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

P50

P577

2018-01-16T00:00:00Z

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

P698

29339498

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

P932

5798333

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