12838549

Source:http://linkedlifedata.com/resource/pubmed/id/12838549

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0008633, umls-concept:C0017337, umls-concept:C0018847, umls-concept:C0175702, umls-concept:C0439849, umls-concept:C0450429, umls-concept:C1521991
pubmed:issue	3
pubmed:dateCreated	2003-7-2
pubmed:abstractText	Heat shock protein 27 (HSP27) is one of a number of actin-binding proteins that regulate actin polymerization. Three related HSP27 sequences had previously been mapped to chromosomes 3, 9, and X. We have used fluorescent in-situ hybridization (FISH) to correct and refine the map position of the transcribed HSP27 gene (locus HSPB1) to chromosome 7q11.23. This band also contains the site of the deletion associated with Williams syndrome (WS). To define the relationship between HSP27 and the WS deletion, we used two-color FISH on previously G-banded and photographed metaphase chromosomes from WS cell-lines and peripheral blood. Six WS patients with longer deletions that extend telomeric to the classical WS deletion region were analyzed for deletion length using HSP27, cosmids generated from P193O22 (cos11) and B350L10 (cos64 and 82), B350L10, B161A02, and B363M4. The BAC 363M4 was selected from the Washington University database and contains HSP27. Our results indicated that HSP27 was deleted in three patients and that HSP27 is telomeric to cos11, cos64, cos82, and B350L10. B363M4 was demonstrated to overlap the telomeric end of B161A02 and HSP27 may be contained partially within the telomeric end of B161A02. The possible role of HSP27 in the cognitive features of WS is discussed.
pubmed:grant	http://linkedlifedata.com/resource/pubmed/grant/R01-NS35102
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/101235741
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Heat-Shock Proteins
pubmed:status	MEDLINE
pubmed:month	Jul
pubmed:issn	1552-4825
pubmed:author	pubmed-author:DennisThomas RTR, pubmed-author:HobartHolly HHH, pubmed-author:MervisCarolyn BCB, pubmed-author:MorrisColleen ACA, pubmed-author:NetskiDaleD, pubmed-author:SpallonePatricia APA, pubmed-author:StockA DeanAD
pubmed:copyrightInfo	Copyright 2003 Wiley-Liss, Inc.
pubmed:issnType	Print
pubmed:day	30
pubmed:volume	120A
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	320-5
pubmed:dateRevised	2008-5-21
pubmed:meshHeading	pubmed-meshheading:12838549-Chromosome Mapping, pubmed-meshheading:12838549-Heat-Shock Proteins, pubmed-meshheading:12838549-Humans, pubmed-meshheading:12838549-In Situ Hybridization, Fluorescence, pubmed-meshheading:12838549-Sequence Deletion, pubmed-meshheading:12838549-Williams Syndrome
pubmed:year	2003
pubmed:articleTitle	Heat shock protein 27 gene: chromosomal and molecular location and relationship to Williams syndrome.
pubmed:affiliation	Department of Pediatrics, Division of Genetics, Laboratory of Molecular Cytogenetics, University of Nevada School of Medicine, Las Vegas 89102, USA.
pubmed:publicationType	Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't