Congenital diseases caused by defective -glycosylation of Notch receptors

about

Congenital diseases caused by defective -glycosylation of Notch receptors

Item

http://www.wikidata.org/entity/Q58804709

description

wetenschappelijk artikel

@nl

наукова стаття, опублікована в серпні 2018

@uk

name

Congenital diseases caused by defective -glycosylation of Notch receptors

@en

Congenital diseases caused by defective -glycosylation of Notch receptors

@nl

type

Item

label

Congenital diseases caused by defective -glycosylation of Notch receptors

@en

Congenital diseases caused by defective -glycosylation of Notch receptors

@nl

prefLabel

Congenital diseases caused by defective -glycosylation of Notch receptors

@en

Congenital diseases caused by defective -glycosylation of Notch receptors

@nl

P1476

Congenital diseases caused by defective -glycosylation of Notch receptors

@en

P2093

Tetsuya Okajima

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

Yuko Tashima

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

P275

Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International

P2860

Modification of epidermal growth factor-like repeats with O-fucose. Molecular cloning and expression of a novel GDP-fucose protein O-fucosyltransferase

NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies

Protein O-fucosyltransferase 1 is an essential component of Notch signaling pathways

The protein O-glucosyltransferase Rumi modifies eyes shut to promote rhabdomere separation in Drosophila

Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome

Autosomal dominant inheritance of scalp defects with ectrodactyly

Mutations in NOTCH1 cause Adams-Oliver syndrome

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies

P304

299-307

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

P31

scholarly article

review article

P356

10.18999/NAGJMS.80.3.299

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

P407

English

P433

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

P478

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

P577

2018-08-01T00:00:00Z

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

P698

30214079

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

P921

cell surface receptor

transcription factor

membrane proteins

glycosylation

P932

6125653

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