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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2006-3-23
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pubmed:abstractText |
Mutations in the PITX2 homeobox gene are known to contribute to Axenfeld-Rieger syndrome (ARS), an autosomal-dominant developmental disorder. Although most mutations are in the homeodomain and result in a loss of function, there is a growing subset in the C-terminal domain that has not yet been characterized. These mutations are of particular interest because the C-terminus has both inhibitory and stimulatory activities.
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pubmed:grant |
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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 |
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
1542-0752
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pubmed:author |
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pubmed:copyrightInfo |
Copyright 2006 Wiley-Liss, Inc.
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pubmed:issnType |
Print
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pubmed:volume |
76
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
175-81
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:16498627-Abnormalities, Multiple,
pubmed-meshheading:16498627-Animals,
pubmed-meshheading:16498627-Anterior Eye Segment,
pubmed-meshheading:16498627-CHO Cells,
pubmed-meshheading:16498627-Child, Preschool,
pubmed-meshheading:16498627-Cricetinae,
pubmed-meshheading:16498627-Cricetulus,
pubmed-meshheading:16498627-DNA Mutational Analysis,
pubmed-meshheading:16498627-DNA-Binding Proteins,
pubmed-meshheading:16498627-Dimerization,
pubmed-meshheading:16498627-Female,
pubmed-meshheading:16498627-Homeodomain Proteins,
pubmed-meshheading:16498627-Humans,
pubmed-meshheading:16498627-Male,
pubmed-meshheading:16498627-Mice,
pubmed-meshheading:16498627-Mutation,
pubmed-meshheading:16498627-Syndrome,
pubmed-meshheading:16498627-Tooth Abnormalities,
pubmed-meshheading:16498627-Transcription Factors,
pubmed-meshheading:16498627-Transcriptional Activation,
pubmed-meshheading:16498627-Umbilical Cord
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pubmed:year |
2006
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pubmed:articleTitle |
An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome.
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pubmed:affiliation |
Genetics Program, University of Iowa, Iowa City, Iowa 52242-1109, USA.
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pubmed:publicationType |
Journal Article,
Research Support, N.I.H., Extramural
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