Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1999-3-31
pubmed:databankReference
pubmed:abstractText
The secreted polypeptide noggin (encoded by the Nog gene) binds and inactivates members of the transforming growth factor beta superfamily of signalling proteins (TGFbeta-FMs), such as BMP4 (ref. 1). By diffusing through extracellular matrices more efficiently than TGFbeta-FMs, noggin may have a principal role in creating morphogenic gradients. During mouse embryogenesis, Nog is expressed at multiple sites, including developing bones. Nog-/- mice die at birth from multiple defects that include bony fusion of the appendicular skeleton. We have identified five dominant human NOG mutations in unrelated families segregating proximal symphalangism (SYM1; OMIM 185800) and a de novo mutation in a patient with unaffected parents. We also found a dominant NOG mutation in a family segregating multiple synostoses syndrome (SYNS1; OMIM 186500); both SYM1 and SYNS1 have multiple joint fusion as their principal feature. All seven NOG mutations alter evolutionarily conserved amino acid residues. The findings reported here confirm that NOG is essential for joint formation and suggest that NOG requirements during skeletogenesis differ between species and between specific skeletal elements within species.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
1061-4036
pubmed:author
pubmed:issnType
Print
pubmed:volume
21
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
302-4
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed-meshheading:10080184-Abnormalities, Multiple, pubmed-meshheading:10080184-Adolescent, pubmed-meshheading:10080184-Animals, pubmed-meshheading:10080184-Carrier Proteins, pubmed-meshheading:10080184-Cats, pubmed-meshheading:10080184-Chickens, pubmed-meshheading:10080184-Chromosome Mapping, pubmed-meshheading:10080184-Female, pubmed-meshheading:10080184-Finger Joint, pubmed-meshheading:10080184-Gene Expression Regulation, Developmental, pubmed-meshheading:10080184-Genetic Markers, pubmed-meshheading:10080184-Gorilla gorilla, pubmed-meshheading:10080184-Heterozygote, pubmed-meshheading:10080184-Humans, pubmed-meshheading:10080184-Joints, pubmed-meshheading:10080184-Male, pubmed-meshheading:10080184-Mice, pubmed-meshheading:10080184-Molecular Sequence Data, pubmed-meshheading:10080184-Morphogenesis, pubmed-meshheading:10080184-Mutation, pubmed-meshheading:10080184-Proteins, pubmed-meshheading:10080184-Sequence Analysis, pubmed-meshheading:10080184-Sequence Homology, Amino Acid, pubmed-meshheading:10080184-Sequence Homology, Nucleic Acid, pubmed-meshheading:10080184-Swine, pubmed-meshheading:10080184-Synostosis, pubmed-meshheading:10080184-Xenopus laevis, pubmed-meshheading:10080184-Zebrafish
pubmed:year
1999
pubmed:articleTitle
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.
pubmed:affiliation
Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Ohio, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't