Linked Life Data

21514272

Source:http://linkedlifedata.com/resource/pubmed/id/21514272

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2011-6-6
pubmed:abstractText
Objective: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by a predisposition to neoplasms and developmental abnormalities. Mutation of the PTCH1 gene, which is considered to be responsible for NBCCS, was investigated in a Chinese NBCCS family in this study. Methods: Genomic DNA was isolated from blood samples of all eight living individuals in this family. Mutation analysis of PTCH1 was done by amplified polymerase chain reaction and direct sequencing. Biophysical predictions of the altered protein were made using various bioinformatics tools. To determine the action of the mutated protein, the expression of Gli1 and Gli2 was investigated by immunohistochemistry. Results: A novel PTCH1 mutation at 897G?A in exon4 was identified in all four affected members. This mutation was not found in any unaffected members of this family or in 100 unrelated healthy Chinese people. The mutation causes amino acid replacement 237E?K in the first large extracellular loop of the PTCH1 protein which is required for Sonic Hedgehog (Shh) binding. This mutation changes the protein's biochemical properties and protein activity, resulting in subsequent activation of transcription factors, Gli1 and Gli2, in the Shh/Gli signaling pathway. Immunohistochemistry showed overexpression of Gli1 and Gli2 in the keratocystic odontogenic tumor (KCOT) tissues.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1090-2104
pubmed:author
pubmed:copyrightInfo
Copyright © 2011. Published by Elsevier Inc.
pubmed:issnType
Electronic
pubmed:day
3
pubmed:volume
409
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
166-70
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
A novel mutation of the PTCH1 gene activates the Shh/Gli signaling pathway in a Chinese family with nevoid basal cell carcinoma syndrome.
pubmed:affiliation
Department of Oral and Maxillofacial Surgery, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't