Source:http://linkedlifedata.com/resource/pubmed/id/12438708
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:dateCreated |
2002-11-19
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| pubmed:abstractText |
We have characterised a 2.4-Mb genomic sequence of a smallest region of overlap (SRO) deleted in the human microdeletion syndrome 7p21 by in silico analysis. Patients harbouring this minimal deletion present in addition to the clinical features of Saethre-Chotzen syndrome (MIM 101400) a distinct learning disability. This genomic region shows a very low gene content. Besides the transcription factor gene TWIST, the Histone Deacetylase 9 (HDAC9), Sorting Nexin 13 (SNX13) and an evolutionarily conserved bHLH transcription factor gene Nephew of Atonal 3 (HNATO3) have been detected previously. Here we describe the localisation and characterisation of the TWIST NEIGHBOR (TWISTNB) gene. Comparison of the predicted proteins of human TWISTNB and mouse Twistnb shows a high degree of conservation. Northern blot analysis of human fetal and adult tissues shows ubiquitous expression in all tissues tested.
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| pubmed:language |
eng
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| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:author | |
| pubmed:copyrightInfo |
Copyright 2002 S. Karger AG, Basel
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
167-70
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| pubmed:dateRevised |
2007-12-8
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| pubmed:articleTitle |
Identification and characterisation of the gene TWIST NEIGHBOR (TWISTNB) located in the microdeletion syndrome 7p21 region.
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| pubmed:affiliation |
Institut für Allgemeine Humangenetik, Philipps-Universität Marburg, Marburg, Germany.
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