REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.

about

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.Putative functional variants of lncRNA identified by RegulomeDB were associated with knee osteoarthritis susceptibility

P2860

Q55100675-C30F1FA7-8D0F-4323-B857-93363F45C93F Q58797556-0DD0119C-1C03-48DD-8EB3-27A7EF09A2F1

P2860

REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.

Item

http://www.wikidata.org/entity/Q47158974

description

2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年学术文章

@wuu

2017年学术文章

@zh

2017年学术文章

@zh-cn

2017年学术文章

@zh-hans

2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

@yue

2017年學術文章

@zh-hant

name

REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.

@en

REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.

@nl

type

Item

label

REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.

@en

REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.

@nl

prefLabel

REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.

@en

REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.

@nl

P1476

REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis

@en

P2093

Ali Mentes

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

Amber Begtrup

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

Asuman Gedikbasi

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

Baylor-Hopkins Center for Mendelian Genomics

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

Claudia M B Carvalho

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

Davut Pehlivan

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

Donna M Muzny

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

Ender Karaca

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

Ingrid Sophie Paine

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

James R Lupski

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

P2860

The autosomal recessive inheritance of hereditary gingival fibromatosis

REST: a mammalian silencer protein that restricts sodium channel gene expression to neurons

The neuron-restrictive silencer factor (NRSF): a coordinate repressor of multiple neuron-specific genes

Expression and functions of the repressor element 1 (RE-1)-silencing transcription factor (REST) in breast cancer

A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1

Role of NRSF/REST in the regulation of cardiac gene expression and function

Analysis of protein-coding genetic variation in 60,706 humans

Ubiquitination and deubiquitination of REST and its roles in cancers

Gingival fibromatosis: clinical, molecular and therapeutic issues

Huntingtin interacts with REST/NRSF to modulate the transcription of NRSE-controlled neuronal genes

P304

149-156

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

P31

scholarly article

P356

10.1016/J.AJHG.2017.06.006

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

P407

English

P433

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

P478

101

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

P50

Ozgur Kasapcopur

P577

2017-07-01T00:00:00Z

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

P698

28686854

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

P932

5501868

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

REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.

about

P2860

P2860

REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932