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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2002-1-10
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pubmed:abstractText |
Progressive osseous heteroplasia (POH), an autosomal dominant disorder, is characterized by extensive dermal ossification during childhood, followed by disabling and widespread heterotopic ossification of skeletal muscle and deep connective tissue. Occasional reports of mild heterotopic ossification in Albright's hereditary osteodystrophy (AHO) and a recent report of two patients with AHO who had atypically extensive heterotopic ossification suggested a common genetic basis for the two disorders. AHO is caused by heterozygous inactivating mutations in the GNAS1 gene that result in decreased expression or function of the alpha subunit of the stimulatory G protein (Gsalpha) of adenylyl cyclase.
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pubmed:grant |
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
1533-4406
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:day |
10
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pubmed:volume |
346
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
99-106
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:11784876-Base Sequence,
pubmed-meshheading:11784876-Child,
pubmed-meshheading:11784876-Child, Preschool,
pubmed-meshheading:11784876-DNA Mutational Analysis,
pubmed-meshheading:11784876-Fathers,
pubmed-meshheading:11784876-Female,
pubmed-meshheading:11784876-GTP-Binding Protein alpha Subunits, Gs,
pubmed-meshheading:11784876-Gene Expression,
pubmed-meshheading:11784876-Heterozygote,
pubmed-meshheading:11784876-Humans,
pubmed-meshheading:11784876-Male,
pubmed-meshheading:11784876-Molecular Sequence Data,
pubmed-meshheading:11784876-Mutation,
pubmed-meshheading:11784876-Ossification, Heterotopic,
pubmed-meshheading:11784876-Pedigree,
pubmed-meshheading:11784876-Penetrance,
pubmed-meshheading:11784876-Phenotype,
pubmed-meshheading:11784876-Polymerase Chain Reaction,
pubmed-meshheading:11784876-RNA, Messenger
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pubmed:year |
2002
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pubmed:articleTitle |
Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia.
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pubmed:affiliation |
Department of Orthopaedic Surgery, University of Pennsylvania School of Medicine, Philadelphia 19104-6018, USA. shore@mail.med.upenn.edu
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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