http://purl.uniprot.org/cit... | rdf:type | uniprot:Journal_Citation | lld:uniprot |
http://purl.uniprot.org/cit... | rdfs:comment | 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. | lld:uniprot |
http://purl.uniprot.org/cit... | skos:exactMatch | http://purl.uniprot.org/med... | lld:uniprot |
http://purl.uniprot.org/cit... | skos:exactMatch | http://purl.uniprot.org/pub... | lld:uniprot |
http://purl.uniprot.org/cit... | uniprot:name | Cytogenet. Genome Res. | lld:uniprot |
http://purl.uniprot.org/cit... | uniprot:author | Kunz J. | lld:uniprot |
http://purl.uniprot.org/cit... | uniprot:author | Kosan C. | lld:uniprot |
http://purl.uniprot.org/cit... | uniprot:date | 2002 | lld:uniprot |
http://purl.uniprot.org/cit... | uniprot:pages | 167-170 | lld:uniprot |
http://purl.uniprot.org/cit... | uniprot:title | Identification and characterisation of the gene TWIST NEIGHBOR (TWISTNB) located in the microdeletion syndrome 7p21 region. | lld:uniprot |
http://purl.uniprot.org/cit... | uniprot:volume | 97 | lld:uniprot |
http://purl.uniprot.org/cit... | dc-term:identifier | doi:10.1159/000066618 | lld:uniprot |
uniprot-protein:Q3B726 | uniprot:citation | http://purl.uniprot.org/cit... | lld:uniprot |
uniprot-protein:Q78WZ7 | uniprot:citation | http://purl.uniprot.org/cit... | lld:uniprot |
http://linkedlifedata.com/r... | uniprot:source | http://purl.uniprot.org/cit... | lld:uniprot |
http://linkedlifedata.com/r... | uniprot:source | http://purl.uniprot.org/cit... | lld:uniprot |
http://linkedlifedata.com/r... | rdf:object | http://purl.uniprot.org/cit... | lld:uniprot |
http://linkedlifedata.com/r... | rdf:object | http://purl.uniprot.org/cit... | lld:uniprot |