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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
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pubmed:dateCreated |
1994-3-10
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pubmed:abstractText |
The X-lined gene for Norrie disease, which is characterized by blindness, deafness and mental retardation has been cloned recently. This gene has been thought to code for a putative extracellular factor; its predicted amino acid sequence is homologous to the C-terminal domain of diverse extracellular proteins. Sequence pattern searches and three-dimensional modelling now suggest that the Norrie disease protein (NDP) has a tertiary structure similar to that of transforming growth factor beta (TGF beta). Our model identifies NDP as a member of an emerging family of growth factors containing a cystine knot motif, with direct implications for the physiological role of NDP. The model also sheds light on sequence related domains such as the C-terminal domain of mucins and of von Willebrand factor.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Dec
|
pubmed:issn |
1061-4036
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
5
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
376-80
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:8298646-Amino Acid Sequence,
pubmed-meshheading:8298646-Blindness,
pubmed-meshheading:8298646-Deafness,
pubmed-meshheading:8298646-Humans,
pubmed-meshheading:8298646-Intellectual Disability,
pubmed-meshheading:8298646-Models, Molecular,
pubmed-meshheading:8298646-Molecular Sequence Data,
pubmed-meshheading:8298646-Protein Structure, Tertiary,
pubmed-meshheading:8298646-Sex Chromosome Aberrations,
pubmed-meshheading:8298646-X Chromosome,
pubmed-meshheading:8298646-von Willebrand Factor
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pubmed:year |
1993
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pubmed:articleTitle |
Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure.
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pubmed:affiliation |
Abteilung für Pädiatrische Genetik, Ludwig-Maximilians-Universität, München, Germany.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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