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| http://purl.uniprot.org/citations/17300748 | http://www.w3.org/2000/01/rdf-schema#comment | "Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a type of human hand-foot malformation. In this study, we collected data from a Chinese family with TPT-PS and mapped the disease region to chromosome 7q36. By using a fine mapping study and a haplotype analysis, we narrowed the affected region to 1.7cM between markers D7S2465 and D7S2423, which contains four candidate genes: HLXB9, LMBR1, NOM1, and RNF32. By sequence analysis, we found no sequence alterations, which are specific to the patients in the transcribed regions and in the intron-exon boundaries among the four genes. After closely examining intron 5 of the LMBR1 gene, we discovered a single C to T transition in the affected TPT-PS individuals of the Chinese subject family. The position of this C to T transition is located close to other sequence alterations involved in several preaxial polydactyly (PPD) families, supporting the notion that intron 5 of LMBR1 contains a cis-acting regulator of limb-specific Sonic Hedgehog (SHH). We postulate that the disruption of this cis-regulator via a single C to T transition results in the dysregulation of SHH, which leads to the TPT-PS found in this case."xsd:string |
| http://purl.uniprot.org/citations/17300748 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.bbrc.2007.01.129"xsd:string |
| http://purl.uniprot.org/citations/17300748 | http://purl.uniprot.org/core/author | "Wang Z.Y."xsd:string |
| http://purl.uniprot.org/citations/17300748 | http://purl.uniprot.org/core/author | "Hu L."xsd:string |
| http://purl.uniprot.org/citations/17300748 | http://purl.uniprot.org/core/author | "Kong X."xsd:string |
| http://purl.uniprot.org/citations/17300748 | http://purl.uniprot.org/core/author | "Shi Y.Z."xsd:string |
| http://purl.uniprot.org/citations/17300748 | http://purl.uniprot.org/core/author | "Wang Z.Q."xsd:string |
| http://purl.uniprot.org/citations/17300748 | http://purl.uniprot.org/core/author | "Tian S.H."xsd:string |
| http://purl.uniprot.org/citations/17300748 | http://purl.uniprot.org/core/author | "Shu R.Z."xsd:string |
| http://purl.uniprot.org/citations/17300748 | http://purl.uniprot.org/core/author | "Zhou P.T."xsd:string |
| http://purl.uniprot.org/citations/17300748 | http://purl.uniprot.org/core/date | "2007"xsd:gYear |
| http://purl.uniprot.org/citations/17300748 | http://purl.uniprot.org/core/name | "Biochem Biophys Res Commun"xsd:string |
| http://purl.uniprot.org/citations/17300748 | http://purl.uniprot.org/core/pages | "312-317"xsd:string |
| http://purl.uniprot.org/citations/17300748 | http://purl.uniprot.org/core/title | "A single C to T transition in intron 5 of LMBR1 gene is associated with triphalangeal thumb-polysyndactyly syndrome in a Chinese family."xsd:string |
| http://purl.uniprot.org/citations/17300748 | http://purl.uniprot.org/core/volume | "355"xsd:string |
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