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.

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 PG;Palmieri A;Girardi A;Baciliero U;Scapoli L. - In: INTERNATIONAL JOURNAL OF IMMUNOPATHOLOGY AND PHARMACOLOGY. - ISSN 0394-6320. - STAMPA. - 24:(2011), pp. 7-10.

Evidence of an involvement of TFAP2A gene in non-syndromic cleft lip with or without cleft palate: an Italian study.

MARTINELLI, MARCELLA;MASIERO, ELENA;MORSELLI, PAOLO;PALMIERI, ANNALISA;GIRARDI, AMBRA;SCAPOLI, LUCA
2011

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.
2011
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 PG;Palmieri A;Girardi A;Baciliero U;Scapoli L. - In: INTERNATIONAL JOURNAL OF IMMUNOPATHOLOGY AND PHARMACOLOGY. - ISSN 0394-6320. - STAMPA. - 24:(2011), pp. 7-10.
Martinelli M;Masiero E;Carinci F;Morselli PG;Palmieri A;Girardi A;Baciliero U;Scapoli L
File in questo prodotto:
Eventuali allegati, non sono esposti

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/139000
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo

Citazioni
  • ???jsp.display-item.citation.pmc??? 8
  • Scopus 11
  • ???jsp.display-item.citation.isi??? 7
social impact