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Evidence of an involvement of TFAP2A gene in non-syndromic cleft lip with or without cleft palate: an Italian study.
Martinelli, M; Masiero, E; Carinci, F; Morselli, P G; Palmieri, A; Girardi, A; Baciliero, U; Scapoli, L.
Affiliation
  • Martinelli M; Department of Histology, Embryology and Applied Biology, Centre of Molecular Genetics, University of Bologna, Bologna, Italy.
Int J Immunopathol Pharmacol ; 24(2 Suppl): 7-10, 2011.
Article in En | MEDLINE | ID: mdl-21781438
ABSTRACT
Unraveling of factors involved in multifactorial diseases is a great challenge. Different approaches can be contemplate and applied to a variety of congenital malformations. In the present investigation TFAP2A has been considered a good candidate gene for nonsyndromic cleft lip with or without cleft palate (NSCLP) aetiology, basing on a sum of considerations. TFAP2A has been seen involved in orofacial development in mice; it is located in the NSCLP candidate region 6p24; it codes for a transcription factor which regulates expression of IRF6, a gene implied in NSCLP; finally, it is embroiled in the branchiooculofacial syndrome, that includes clefting as feature. A family based association analysis was performed with a sample study of 405 NSCLP triads. Evidence of association was obtained with both single marker and haplotype analyses, thus providing a support for TFAP2A in NSCLP aetiology.
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Collection: 01-internacional Database: MEDLINE Main subject: Cleft Lip / Cleft Palate / Transcription Factor AP-2 Limits: Female / Humans / Male Country/Region as subject: Europa Language: En Journal: Int J Immunopathol Pharmacol Journal subject: ALERGIA E IMUNOLOGIA / FARMACOLOGIA / PATOLOGIA Year: 2011 Document type: Article Affiliation country:
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Collection: 01-internacional Database: MEDLINE Main subject: Cleft Lip / Cleft Palate / Transcription Factor AP-2 Limits: Female / Humans / Male Country/Region as subject: Europa Language: En Journal: Int J Immunopathol Pharmacol Journal subject: ALERGIA E IMUNOLOGIA / FARMACOLOGIA / PATOLOGIA Year: 2011 Document type: Article Affiliation country: