In the context of MALFORMATIONS, WP6 aims at identifying and characterising genes playing an important role in cardiac morphogenesis, vasculogenesis and angiogenesis by studying inherited human cardiac and vascular anomalies. The aim of WP7 is the structural and functional genomic analysis of a novel, evolutionary conserved imprinted domain (HSA14q, MMU12q, OAR18q) that is involved in the determination of a complex non-mendelian inheritance pattern described in sheep (polar overdominance), as well as in developmental anomalies associated with uniparental disomies in man and mice.
TUMORIGENESIS is the subject of 2 work packages. WP8, devoted to the molecular aspects of tumorigenesis in neurofibromatosis type 1, focuses on the molecular changes in Schwann cells derived from neurofibromas and malignant peripheral nerve sheath tumors from individuals with neurofibromatosis type 1. WP9 aims at the identification of novel genes involved in leukemogenesis and lymphomagenesis, the analysis of the molecular mechanisms by which these genes participate in tumorigenesis, and the evaluation of the diagnostic and prognostic relevance of the genetic aberrations.
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