About: Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela

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About: Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela Goto Sponge NotDistinct Permalink

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scientific article (publication date: October 2001)

Attributes	Values
rdf:type	Item
description	articolo scientifico (it) artículu científicu espublizáu en 2001 (ast) vědecký článek publikovaný v roce 2001 (cs) 2001 թվականի հոտեմբերին հրատարակված գիտական հոդված (hy) 2001 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած (hyw) vedecký článok (publikovaný 2001-10) (sk) wetenschappelijk artikel (gepubliceerd in 2001-10) (nl) наукова стаття, опублікована в жовтні 2001 (uk) مقالة علمية (نشرت في أكتوبر 2001) (ar) scientific article (publication date: October 2001) (en) im Oktober 2001 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q28216427-C60B11A1-A4B9-4B52-82DD-CCAAC7841A7F
publication date	2001-10-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q28216427-3DA31BD2-0901-43CF-896D-AC95C795E026
language of work or name	English
cites work	wds:Q28216427-42888BD7-33A5-436F-A239-25DDBAF18114 wds:Q28216427-50EBCB9D-D6F5-4197-8F28-3EB11F81CEFC wds:Q28216427-83830B18-B476-4FC6-86DA-6949AB9A0EDF wds:Q28216427-8D702C73-CD0A-4501-945F-E27232EF47AE wds:Q28216427-92214396-E8BD-4D67-9FD5-1659603A2FAA wds:Q28216427-928F41FA-1812-4B4E-83ED-5ABAACEC68C9 wds:Q28216427-B40A04EE-15E0-4321-8904-9D4CE18E51A8 wds:Q28216427-B5EBE27B-4A08-4A88-811B-EBBEAA4ACD17 wds:Q28216427-BF51C7E3-B654-40E7-B23F-79E69447F46B wds:Q28216427-DB4017F9-A9BA-4092-A7B1-F087C2589798
cites work	Unravelling the complex genetics of cleft lip in the mouse model Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia The many faces and factors of orofacial clefts The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia. Genetic and teratogenic approaches to craniofacial development Cleft lip+/-cleft palate: an overview of the literature and an analysis of Danish cases born between 1941 and 1968. Orofacial clefts in Czechoslovakia. Incidence, genetics and prevention of cleft lip and palate over a 19-year period Linkage disequilibrium mapping of the gene for Margarita Island ectodermal dysplasia (ED4) to 11q23. Genetic epidemiology of birth defects: nonsyndromic cleft lip and neural tube defects Autosomal recessive ectodermal dysplasia: I. An undescribed dysplasia/malformation syndrome
author name string	wds:Q28216427-27166D62-29E2-46E1-A1EC-81BBE83F098F wds:Q28216427-978ABB47-2594-405E-ACCB-483A134CB76F wds:Q28216427-9AC01F5A-6C32-4411-9381-E788A160008B wds:Q28216427-A652940A-6BB8-4BA3-AFAD-A03509F8D8E3 wds:Q28216427-ABAC8B6A-AC9D-428E-835F-1FA410C2D413
OpenCitations bibliographic resource ID	wds:Q28216427-D9E78B3C-3034-44F1-ADD0-312BCC112F44
OpenCitations bibliographic resource ID	https://w3id.org/oc/corpus/br/1420917
author name string	K Suzuki M A Sözen T Bustos J E Fernández Iglesias M M Tolarova
OpenCitations bibliographic resource ID	1420917
rdfs:label	Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela (en) Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela (nl) Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela (ast)
skos:prefLabel	Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela (en) Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela (nl) Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela (ast)
name	Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela (en) Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela (nl) Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela (ast)
author	wds:Q28216427-F51C9BE5-DF3D-4A66-9F2F-54FFDAE8A138
author	Richard A Spritz
title	wds:Q28216427-AE1CC71E-362A-415B-90F5-DEF5FE1F3388
title	Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela (en)
page(s)	wds:Q28216427-26E5C8DB-8E35-4BB4-95BB-5334E7A8E3B1
page(s)	141-2
instance of	wds:Q28216427-682D9541-525D-403F-A0DD-A8DB9D3C660F
instance of	scholarly article
main subject	wds:Q28216427-A6E6467B-E39A-4E0A-8BB9-309B688517E5
main subject	Venezuela
PubMed ID	wds:Q28216427-5D11AE47-5BC7-4E40-9079-2B01D71348A6
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/11559849
PubMed ID	11559849
published in	wds:Q28216427-6C5AD3FC-44B8-4053-BDC3-0D1D28022884
published in	Nature Genetics
issue	wds:Q28216427-B58A2463-C4B1-4123-80BA-419CDD2E65B6
volume	wds:Q28216427-A5E43071-8FEA-4747-8B57-6FA13C068C1F
issue	2
volume	29
DOI	wds:Q28216427-F431D61D-8619-4B60-90F4-A1E6BB2C0487
DOI	http://dx.doi.org/10.1038/NG740
DOI	10.1038/NG740
ResearchGate publication ID	wds:Q28216427-7A2AD9AC-2060-4470-97D0-3A625F0FF98F
ResearchGate publication ID	11787817
Springer Nature article ID	wds:Q28216427-D69F0BA1-CAF3-4488-A5AF-661AD412E002
Springer Nature article ID	10.1038/ng740
is owl:sameAs of	Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q28216427
is cites work of	Gene/environment causes of cleft lip and/or palate Comparative usage of herpesvirus entry mediator A and nectin-1 by laboratory strains and clinical isolates of herpes simplex virus Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome The etiopathogenesis of cleft lip and cleft palate: usefulness and caveats of mouse models Cleft lip and palate Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35. Phenotypic variability and craniofacial dysmorphology: increased shape variance in a mouse model for cleft lip. Cleft lip and palate: understanding genetic and environmental influences Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6 The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia. Ectodomain shedding of nectin-1 regulates the maintenance of dendritic spine density. Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice. Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.

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