Variants in CUL4B are associated with cerebral malformations - Wikidata - wikimedia - TriplyDB

Variants in CUL4B are associated with cerebral malformations

Variants in CUL4B are associated with cerebral malformations

http://www.wikidata.org/entity/Q28251358

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Distinct and overlapping functions of the cullin E3 ligase scaffolding proteins CUL4A and CUL4B X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes The role of cullin4B in human cancers.Molecular subtyping and improved treatment of neurodevelopmental disease.Proteomic analysis of the cullin 4B interactome using proximity-dependent biotinylation in living cells.Dysregulation of the miR-194-CUL4B negative feedback loop drives tumorigenesis in non-small-cell lung carcinoma.Genome-first approach diagnosed Cabezas syndrome via novel CUL4B mutation detection.A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing.Lack of CUL4B leads to increased abundance of GFAP-positive cells that is mediated by PTGDS in mouse brain.De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

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Variants in CUL4B are associated with cerebral malformations

http://www.wikidata.org/entity/Q28251358

description

2015 nî lūn-bûn

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2015 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2015 թվականի հունվարին հրատարակված գիտական հոդված

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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name

Variants in CUL4B are associated with cerebral malformations

@ast

Variants in CUL4B are associated with cerebral malformations

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Variants in CUL4B are associated with cerebral malformations

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type

label

Variants in CUL4B are associated with cerebral malformations

@ast

Variants in CUL4B are associated with cerebral malformations

@en

Variants in CUL4B are associated with cerebral malformations

@nl

prefLabel

Variants in CUL4B are associated with cerebral malformations

@ast

Variants in CUL4B are associated with cerebral malformations

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Variants in CUL4B are associated with cerebral malformations

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Variants in CUL4B are associated with cerebral malformations

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P2093

A James Barkovich

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

Agnieszka Charzewska

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

Alessandra Baumer

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

Andreas Busche

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

Anju K Philips

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

Anneke T Vulto-van Silfhout

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

Arjan P M de Brouwer

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

Bert B A de Vries

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

Daniel Amram

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

Ewa Obersztyn

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

P2860

ROC1, a homolog of APC11, represents a family of cullin partners with an associated ubiquitin ligase activity

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

WDR62 is associated with the spindle pole and is mutated in human microcephaly

Molecular architecture and assembly of the DDB1-CUL4A ubiquitin ligase machinery

Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation

CRL4B catalyzes H2AK119 monoubiquitination and coordinates with PRC2 to promote tumorigenesis

CUL4-DDB1 ubiquitin ligase interacts with multiple WD40-repeat proteins and regulates histone methylation

WD40 protein FBW5 promotes ubiquitination of tumor suppressor TSC2 by DDB1-CUL4-ROC1 ligase

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106-17

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scholarly article

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10.1002/HUMU.22718

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1

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36

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Hans-Hilger Ropers

Hans van Bokhoven

Tjitske Kleefstra

Andreas Tzschach

Jacqueline Vigneron

Nadia Bahi-Buisson

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2015-01-01T00:00:00Z

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268513728

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25385192

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4608231

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