DESCRIBE <http://purl.uniprot.org/citations/20500075>

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http://purl.uniprot.org/citations/20500075	http://www.w3.org/1999/02/22-rdf-syntax-ns#type	http://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/20500075	http://www.w3.org/2000/01/rdf-schema#comment	" Objective The aim of this study is to identify gene targets of TFII-I transcription factors involved in craniofacial development. Design Recent findings in individuals with Williams-Beuren syndrome who show facial dysmorphism and cognitive defects have pointed to TFII-I genes (GTF2I and GTF2IRD1) as the prime candidates responsible for these clinical features. However, TFII-I proteins are multifunctional transcriptional factors regulating a number of genes during development, and how their haploinsufficiency leads to the Williams-Beuren syndrome phenotype is currently unknown. Results Here we report the identification of three genes with a well-established relevance to craniofacial development as direct TFII-I targets. These genes, craniofacial development protein 1 (Cfdp1), Sec23 homolog A (Sec23a), and nuclear receptor binding SET domain protein 1 (Nsd1), contain consensus TFII-I binding sites in their proximal promoters; the chromatin immunoprecipitation analysis showed that TFII-I transcription factors are recruited to these sites in vivo. Conclusions The results suggest that transcriptional regulation of these genes by TFII-I proteins could provide a possible genotype-phenotype link in Williams-Beuren syndrome."xsd:string
http://purl.uniprot.org/citations/20500075	http://purl.org/dc/terms/identifier	"doi:10.1597/09-093"xsd:string
http://purl.uniprot.org/citations/20500075	http://purl.uniprot.org/core/author	"Bayarsaihan D."xsd:string
http://purl.uniprot.org/citations/20500075	http://purl.uniprot.org/core/author	"Makeyev A.V."xsd:string
http://purl.uniprot.org/citations/20500075	http://purl.uniprot.org/core/date	"2011"xsd:gYear
http://purl.uniprot.org/citations/20500075	http://purl.uniprot.org/core/name	"Cleft Palate Craniofac J"xsd:string
http://purl.uniprot.org/citations/20500075	http://purl.uniprot.org/core/pages	"109-116"xsd:string
http://purl.uniprot.org/citations/20500075	http://purl.uniprot.org/core/title	"Molecular basis of Williams-Beuren syndrome: TFII-I regulated targets involved in craniofacial development."xsd:string
http://purl.uniprot.org/citations/20500075	http://purl.uniprot.org/core/volume	"48"xsd:string
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http://purl.uniprot.org/uniprot/#_O88271-mappedCitation-20500075	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/20500075
http://purl.uniprot.org/uniprot/#_O88491-mappedCitation-20500075	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/20500075
http://purl.uniprot.org/uniprot/#_Q3UL03-mappedCitation-20500075	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/20500075
http://purl.uniprot.org/uniprot/#_Q01405-mappedCitation-20500075	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/20500075
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http://purl.uniprot.org/uniprot/#_Q8C1E4-mappedCitation-20500075	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/20500075
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http://purl.uniprot.org/uniprot/O88491	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/20500075
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