|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0019904,
umls-concept:C0026882,
umls-concept:C0030705,
umls-concept:C0175630,
umls-concept:C0205653,
umls-concept:C0441889,
umls-concept:C0538161,
umls-concept:C0684224,
umls-concept:C0700287,
umls-concept:C1336645,
umls-concept:C1368019
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|
pubmed:issue |
6
|
|
pubmed:dateCreated |
2007-5-16
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|
pubmed:abstractText |
The oldest person (60 yr) with juvenile Paget's disease is homozygous for the TNFRSF11B mutation 966_969delTGACinsCTT. Elevated circulating levels of immunoreactive OPG and soluble RANKL accompany this genetic defect that truncates the OPG monomer, preventing formation of OPG homodimers.
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pubmed:language |
eng
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pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Jun
|
|
pubmed:issn |
0884-0431
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
22
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
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pubmed:pagination |
938-46
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|
pubmed:meshHeading |
pubmed-meshheading:17352649-Alkaline Phosphatase,
pubmed-meshheading:17352649-Calcitonin,
pubmed-meshheading:17352649-DNA Mutational Analysis,
pubmed-meshheading:17352649-Diphosphonates,
pubmed-meshheading:17352649-Frameshift Mutation,
pubmed-meshheading:17352649-Homozygote,
pubmed-meshheading:17352649-Humans,
pubmed-meshheading:17352649-Male,
pubmed-meshheading:17352649-Middle Aged,
pubmed-meshheading:17352649-Osteitis Deformans,
pubmed-meshheading:17352649-Osteoprotegerin,
pubmed-meshheading:17352649-RANK Ligand
|
|
pubmed:year |
2007
|
|
pubmed:articleTitle |
Juvenile Paget's disease: the second reported, oldest patient is homozygous for the TNFRSF11B "Balkan" mutation (966_969delTGACinsCTT), which elevates circulating immunoreactive osteoprotegerin levels.
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|
pubmed:affiliation |
Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St Louis, Missouri 63131, USA. mwhyte@shrinenet.org
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|
