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rdf:type |
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lifeskim:mentions |
umls-concept:C0008059,
umls-concept:C0017262,
umls-concept:C0026882,
umls-concept:C0150312,
umls-concept:C0185117,
umls-concept:C0205217,
umls-concept:C0225369,
umls-concept:C0249197,
umls-concept:C0288472,
umls-concept:C1333543,
umls-concept:C1420626,
umls-concept:C2911684
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pubmed:issue |
5
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pubmed:dateCreated |
2009-10-5
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pubmed:abstractText |
Achondroplasia (ACH) represents the major cause of dwarfism and is due to mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. The cellular mechanisms involved in the reduced growth have been mainly described for in vitro or in vivo models, but few data have been obtained for humans.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/CCND1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/CDKN1A protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Cyclin D1,
http://linkedlifedata.com/resource/pubmed/chemical/Cyclin-Dependent Kinase Inhibitor...,
http://linkedlifedata.com/resource/pubmed/chemical/Receptor, Fibroblast Growth...,
http://linkedlifedata.com/resource/pubmed/chemical/STAT1 Transcription Factor,
http://linkedlifedata.com/resource/pubmed/chemical/STAT1 protein, human
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
1436-2023
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
14
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
623-30
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pubmed:meshHeading |
pubmed-meshheading:19802676-Achondroplasia,
pubmed-meshheading:19802676-Case-Control Studies,
pubmed-meshheading:19802676-Child,
pubmed-meshheading:19802676-Chondrocytes,
pubmed-meshheading:19802676-Cyclin D1,
pubmed-meshheading:19802676-Cyclin-Dependent Kinase Inhibitor p21,
pubmed-meshheading:19802676-Female,
pubmed-meshheading:19802676-Humans,
pubmed-meshheading:19802676-Male,
pubmed-meshheading:19802676-Mutation,
pubmed-meshheading:19802676-Receptor, Fibroblast Growth Factor, Type 3,
pubmed-meshheading:19802676-STAT1 Transcription Factor,
pubmed-meshheading:19802676-Signal Transduction
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pubmed:year |
2009
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pubmed:articleTitle |
Increased p21 expression in chondrocytes of achondroplasic children independently from the presence of the G380R FGFR3 mutation.
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pubmed:affiliation |
Pathology Department, Orthopaedic Institute Gaetano Pini, Milan, Italy.
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pubmed:publicationType |
Journal Article
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