About: Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia

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About: Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia Goto Sponge NotDistinct Permalink

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scientific article published on 01 January 2010

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) article scientifique (publié 2010) (fr) наукова стаття, опублікована в січні 2010 (uk) im Januar 2010 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en xineru de 2010 (ast) articolo scientifico (pubblicato il 2010) (it) artikull shkencor i botuar më 01 janar 2010 (sq) scientific article published on 01 January 2010 (en)
publication date	wds:Q82258329-4830488D-3417-4036-A7C0-AE246D008AC3
publication date	2010-01-01 00:00:00Z (xsd:dateTime)
author name string	wds:Q82258329-1C462627-860D-410C-B29C-3009312A437A wds:Q82258329-22A8853B-BB88-45C9-9350-CF2BC93F72E5 wds:Q82258329-6AE31BDB-AF9D-4FF8-99A6-D9910567598F wds:Q82258329-C179ABBA-1F60-4B4A-A76D-97B4A17413C9 wds:Q82258329-D1C4DA65-8EC8-4750-97B1-12C217B5B1D5
author name string	Albert David Cédric Le Caignec Bertrand Isidor Olivier Pichon Sabine Baron
rdfs:label	Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia (en) Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia (nl) Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia (sq)
skos:prefLabel	Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia (en) Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia (nl) Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia (sq)
name	Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia (en) Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia (nl) Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia (sq)
title	wds:Q82258329-A71FD7A9-8AAF-41A6-A0D4-F6A07412F7FF
title	Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia (en)
page(s)	wds:Q82258329-643ADB47-3449-4CB5-B577-B91C27E203D0
page(s)	175-180
instance of	wds:Q82258329-673BCAE0-48BC-43F6-8B47-0C300A223299
instance of	scholarly article
main subject	wds:Q82258329-A714A7BD-436B-4A6B-8B42-5CE128772005
main subject	hypogonadism
PubMed ID	wds:Q82258329-FF6F8B17-CED6-4498-BCD8-54E44EA011D7
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/20014135
PubMed ID	20014135
published in	wds:Q82258329-64F12FC1-7F6C-4320-854D-A8EBC62F955F
published in	American Journal of Medical Genetics
issue	wds:Q82258329-1C9385C6-F64E-41BE-B384-4A3286FE2D92
volume	wds:Q82258329-48D3FFDF-075C-47CF-9611-4CB242A36CE0
issue	1
volume	152A
DOI	wds:Q82258329-F4828D2C-641F-4938-8D51-EFFE7E39B004
DOI	http://dx.doi.org/10.1002/AJMG.A.33152
DOI	10.1002/AJMG.A.33152
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q82258329
is cites work of	Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness Lack of Cul4b, an E3 ubiquitin ligase component, leads to embryonic lethality and abnormal placental development X-linked mental retardation gene CUL4B targets ubiquitylation of H3K4 methyltransferase component WDR5 and regulates neuronal gene expression Pathogenic Role of the CRL4 Ubiquitin Ligase in Human Disease Regulation of histone H3K4 methylation in brain development and disease Essential role of the CUL4B ubiquitin ligase in extra-embryonic tissue development during mouse embryogenesis DNA damage-induced activation of CUL4B targets HUWE1 for proteasomal degradation Variants in CUL4B are associated with cerebral malformations Genome-first approach diagnosed Cabezas syndrome via novel CUL4B mutation detection A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders Human X-linked Intellectual Disability Factor CUL4B Is Required for Post-meiotic Sperm Development and Male Fertility Distinct and overlapping functions of the cullin E3 ligase scaffolding proteins CUL4A and CUL4B Functional significance of the sex chromosomes during spermatogenesis. CUL4B negatively regulates Toll-like receptor-triggered proinflammatory responses by repressing Pten transcription Genomic imbalances defining novel intellectual disability associated loci Cullin4A and cullin4B are interchangeable for HIV Vpr and Vpx action through the CRL4 ubiquitin ligase complex RNF8 and SCML2 cooperate to regulate ubiquitination and H3K27 acetylation for escape gene activation on the sex chromosomes. A novel CUL4B splice site variant in a young male exhibiting less pronounced features
is cites work of	wds:Q21131974-EA25E35C-8380-4DE2-A959-A61F96509B5C wds:Q41960499-D883C18E-3DC3-43AE-A89B-67DC3E1F98CF wds:Q91292188-EA8153D5-C2C7-4293-87A5-E1C00207B9BB wds:Q91660811-5CE34565-7355-4B04-B345-DBB3F104D244 wds:Q34079415-E38C3045-4B35-4B2B-8D6C-C3C626702A6B wds:Q28578733-B7AEC66A-B617-43C1-AAD1-7AC651822DA8 wds:Q28237912-90A4A9BC-2183-434D-A54A-826841DA37F5 wds:Q28262931-F4E0CF37-6080-45EA-98EC-AA3FD53194B2 wds:Q35971298-66EEED55-A301-4A92-8A9E-9C07AE04DBCE wds:Q50422500-577941F6-643D-4E4F-BE79-ABB9F2F6E5F4 wds:Q28086765-9D471CDC-973E-43E9-9F72-0642AF5B723B wds:Q27355584-12705D8A-F416-4064-B7EE-B593BE2A2DAD wds:Q35878326-C261768F-DFB9-4907-867C-8AB200648B4F wds:Q34273850-4B8254A9-B548-48B7-A74C-E5888760807B wds:Q35786131-522008A6-914F-48FC-A649-77A1F24A8A5A wds:Q90912868-815FB853-269D-43B2-A622-ADE8DB90D4A9 wds:Q28383337-18D2E239-AE4E-43A8-BEDD-DDDF69F74C03 wds:Q28251358-479A066B-5CFD-4BFD-B6A7-F8F84CFC7681 wds:Q28241396-C3E5253B-4C68-43A7-92B6-FC215729D2A2

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