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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
TFAP2B
gene.
Entrez
Gene
Hilger-Eversheim K, Moser M, Schorle H, Buettner R. Regulatory roles of AP-2 transcription factors in vertebrate development, apoptosis and cell-cycle control. Gene. 2000 Dec 30;260(1-2):1-12. Review.
PubMed citation
Maeda S, Tsukada S, Kanazawa A, Sekine A, Tsunoda T, Koya D, Maegawa H, Kashiwagi A, Babazono T, Matsuda M, Tanaka Y, Fujioka T, Hirose H, Eguchi T, Ohno Y, Groves CJ, Hattersley AT, Hitman GA, Walker M, Kaku K, Iwamoto Y, Kawamori R, Kikkawa R, Kamatani N, McCarthy MI, Nakamura Y. Genetic variations in the gene encoding TFAP2B are associated with type 2 diabetes mellitus. J Hum Genet. 2005;50(6):283-92. Epub 2005 Jun 7.
PubMed citation
Mani A, Radhakrishnan J, Farhi A, Carew KS, Warnes CA, Nelson-Williams C, Day RW, Pober B, State MW, Lifton RP. Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder. Proc Natl Acad Sci U S A. 2005 Feb 22;102(8):2975-9. Epub 2005 Jan 31.
PubMed citation
Satoda M, Zhao F, Diaz GA, Burn J, Goodship J, Davidson HR, Pierpont ME, Gelb BD. Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus. Nat Genet. 2000 May;25(1):42-6.
PubMed citation
Tsukada S, Tanaka Y, Maegawa H, Kashiwagi A, Kawamori R, Maeda S. Intronic polymorphisms within TFAP2B regulate transcriptional activity and affect adipocytokine gene expression in differentiated adipocytes. Mol Endocrinol. 2006 May;20(5):1104-11. Epub 2005 Dec 22.
PubMed citation
Zhao F, Weismann CG, Satoda M, Pierpont ME, Sweeney E, Thompson EM, Gelb BD. Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation. Am J Hum Genet. 2001 Oct;69(4):695-703. Epub 2001 Aug 14.
PubMed citation
Reviewed: June 2008
Published: May 20, 2013