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Molecular and functional analysis of p63 and DLX genes involved in the etiopathogenesis of split hand-foot malformation : dottorato di ricerca in scienze genetiche e biomolecolari : tesi di dottorato

Lo Iacono, Nadia <1978- >

Tesi o dissertazioni - 2009

Dott. Nadia Lo Iacono Matr. Nr. R06374 Molecular and functional analysis of p63 and Dlx genes involved in the etiopathogenesis of Split Hand-Foot Malformation The Split Hand-Foot Malformation (SHFM, or ectrodactyly) is characterized by a medial cleft of hands and feet. Five genetically distinct forms are known in humans; the most common (type-I) is linked to deletions of DSS1 and the distalless-related homeogenes DLX5 and DLX6. As Dlx5;Dlx6 double-knockout mice show a SHFM-like phenotype, the human orthologs are believed to be the disease genes. SHFM-IV and Ectrodactyly-Ectodermal dysplasia-Cleft lip (EEC) are caused by mutations in p63. The similarity in the limb phenotype of different forms of SHFM may underlie the existence of a regulatory cascade involving the disease genes. I demonstrated that p63 and Dlx proteins colocalize in the nuclei of the apical ectodermal ridge (AER). In homozygous p63–(null) and p63EEC(R279H) mutant limbs, the AER fails to stratify and the expression of four [...]
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