Linked Life Data

15824861

Source:http://linkedlifedata.com/resource/pubmed/id/15824861

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2005-4-12
pubmed:abstractText
Gain-of-function mutation in the gene encoding LRP5 causes high bone mass. A 59-year-old woman carrying a novel LRP5 missense mutation, Arg154Met, manifested skeletal disease affecting her oropharynx as well as dense bones, showing that exuberant LRP5 effects are not always benign.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0884-0431
pubmed:author
pubmed:issnType
Print
pubmed:volume
20
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
878-85
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed-meshheading:15824861-Alleles, pubmed-meshheading:15824861-Base Sequence, pubmed-meshheading:15824861-Bone Density, pubmed-meshheading:15824861-Bone Diseases, pubmed-meshheading:15824861-Bone and Bones, pubmed-meshheading:15824861-Exons, pubmed-meshheading:15824861-Female, pubmed-meshheading:15824861-Heterozygote, pubmed-meshheading:15824861-Humans, pubmed-meshheading:15824861-Intercellular Signaling Peptides and Proteins, pubmed-meshheading:15824861-LDL-Receptor Related Proteins, pubmed-meshheading:15824861-Low Density Lipoprotein Receptor-Related Protein-5, pubmed-meshheading:15824861-Male, pubmed-meshheading:15824861-Mandible, pubmed-meshheading:15824861-Middle Aged, pubmed-meshheading:15824861-Models, Genetic, pubmed-meshheading:15824861-Molecular Sequence Data, pubmed-meshheading:15824861-Mutation, pubmed-meshheading:15824861-Mutation, Missense, pubmed-meshheading:15824861-Osteogenesis, pubmed-meshheading:15824861-Palate, pubmed-meshheading:15824861-Pedigree, pubmed-meshheading:15824861-Phenotype, pubmed-meshheading:15824861-Signal Transduction, pubmed-meshheading:15824861-Skull, pubmed-meshheading:15824861-Syndrome, pubmed-meshheading:15824861-Wnt Proteins
pubmed:year
2005
pubmed:articleTitle
Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation.
pubmed:affiliation
Division of Endocrinology, Diabetes and Metabolism, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports, Research Support, Non-U.S. Gov't, Research Support, N.I.H., Extramural