| pubmed-article:9482898 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:9482898 | lifeskim:mentions | umls-concept:C0017347 | lld:lifeskim |
| pubmed-article:9482898 | lifeskim:mentions | umls-concept:C0018787 | lld:lifeskim |
| pubmed-article:9482898 | lifeskim:mentions | umls-concept:C0596392 | lld:lifeskim |
| pubmed-article:9482898 | lifeskim:mentions | umls-concept:C0006104 | lld:lifeskim |
| pubmed-article:9482898 | lifeskim:mentions | umls-concept:C1517884 | lld:lifeskim |
| pubmed-article:9482898 | lifeskim:mentions | umls-concept:C1420042 | lld:lifeskim |
| pubmed-article:9482898 | lifeskim:mentions | umls-concept:C2699298 | lld:lifeskim |
| pubmed-article:9482898 | pubmed:issue | 5 | lld:pubmed |
| pubmed-article:9482898 | pubmed:dateCreated | 1998-4-9 | lld:pubmed |
| pubmed-article:9482898 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9482898 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9482898 | pubmed:abstractText | Deletion of the SHOX region on the human sex chromosomes has been shown to result in idiopathic short stature and proposed to play a role in the short stature associated with Turner syndrome. We have identified a human paired-related homeobox gene, SHOT, by virtue of its homology to the human SHOX and mouse OG-12 genes. Two different isoforms were isolated, SHOTa and SHOTb, which have identical homeodomains and share a C-terminal 14-amino acid residue motif characteristic for craniofacially expressed homeodomain proteins. Differences between SHOTa and b reside within the N termini and an alternatively spliced exon in the C termini. In situ hybridization of the mouse equivalent, OG-12, on sections from staged mouse embryos detected highly restricted transcripts in the developing sinus venosus (aorta), female genitalia, diencephalon, mes- and myelencephalon, nasal capsula, palate, eyelid, and in the limbs. SHOT was mapped to human chromosome 3q25-q26 and OG-12 within a syntenic region on chromosome 3. Based on the localization and expression pattern of its mouse homologue during embryonic development, SHOT represents a candidate for the Cornelia de Lange syndrome. | lld:pubmed |
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| pubmed-article:9482898 | pubmed:language | eng | lld:pubmed |
| pubmed-article:9482898 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9482898 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:9482898 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
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| pubmed-article:9482898 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:9482898 | pubmed:month | Mar | lld:pubmed |
| pubmed-article:9482898 | pubmed:issn | 0027-8424 | lld:pubmed |
| pubmed-article:9482898 | pubmed:author | pubmed-author:WuW DWD | lld:pubmed |
| pubmed-article:9482898 | pubmed:author | pubmed-author:SchillerSS | lld:pubmed |
| pubmed-article:9482898 | pubmed:author | pubmed-author:RiedTT | lld:pubmed |
| pubmed-article:9482898 | pubmed:author | pubmed-author:RappoldG AGA | lld:pubmed |
| pubmed-article:9482898 | pubmed:author | pubmed-author:MonaghanA PAP | lld:pubmed |
| pubmed-article:9482898 | pubmed:author | pubmed-author:Padilla-NashH... | lld:pubmed |
| pubmed-article:9482898 | pubmed:author | pubmed-author:BlaschkeR JRJ | lld:pubmed |
| pubmed-article:9482898 | pubmed:author | pubmed-author:SchechingerBB | lld:pubmed |
| pubmed-article:9482898 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:9482898 | pubmed:day | 3 | lld:pubmed |
| pubmed-article:9482898 | pubmed:volume | 95 | lld:pubmed |
| pubmed-article:9482898 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:9482898 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:9482898 | pubmed:pagination | 2406-11 | lld:pubmed |
| pubmed-article:9482898 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:9482898 | pubmed:meshHeading | pubmed-meshheading:9482898-... | lld:pubmed |
| pubmed-article:9482898 | pubmed:year | 1998 | lld:pubmed |
| pubmed-article:9482898 | pubmed:articleTitle | SHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb development. | lld:pubmed |
| pubmed-article:9482898 | pubmed:affiliation | Institute of Human Genetics, Heidelberg University, Im Neuenheimer Feld 328, 69120 Heidelberg, Germany. | lld:pubmed |
| pubmed-article:9482898 | pubmed:publicationType | Journal Article | lld:pubmed |
