Linked Life Data

21549343

Source:http://linkedlifedata.com/resource/pubmed/id/21549343

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2011-5-13
pubmed:abstractText
Amelogenesis imperfecta (AI) describes a clinically and genetically heterogeneous group of disorders of biomineralization resulting from failure of normal enamel formation. AI is found as an isolated entity or as part of a syndrome, and an autosomal-recessive syndrome associating AI and gingival hyperplasia was recently reported. Using whole-exome sequencing, we identified a homozygous nonsense mutation in exon 2 of FAM20A that was not present in the Single Nucleotide Polymorphism database (dbSNP), the 1000 Genomes database, or the Centre d'Etude du Polymorphisme Humain (CEPH) Diversity Panel. Expression analyses indicated that Fam20a is expressed in ameloblasts and gingivae, providing biological plausibility for mutations in FAM20A underlying the pathogenesis of this syndrome.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1537-6605
pubmed:author
pubmed:copyrightInfo
Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
pubmed:issnType
Electronic
pubmed:day
13
pubmed:volume
88
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
616-20
pubmed:dateRevised
2011-11-14
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome.
pubmed:affiliation
Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Oxford Road, Manchester, UK.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't