Molecular dissection of two human chromatin diseases, Rett syndrome and icf syndrome

Reference: GGP02308 Abstract: Failure of correct gene expression underlies many human genetic disorders. In monogenic disorders, altered expression of a single gene can result from loss of the gene and/or modification of regulative control of gene expression. A class of monogenic disorders presents mutations of factors which mediate gene regulation, that can regulate more target … Read more

Second human pseudoautosomal region: biology, genes and implications for the pathogenesis of Rett syndrome

Reference: E.0869 Abstract: Our interest is to clarify the biology of the second human pseudoautosomal region, located at the end of long arm of the X chromosome and its involvment in genetic pathologies. Genes located in this region show different transcriptional behaviour, escaping or not the X inactivation. Such effects could be likely caused by … Read more

Autism and Rett syndrome complex: molecular bases of complex disorders

Reference: GGP02372 Abstract: Autism (A) and A related disorders (ALD)include an heterogeneous group of conditions of almost unknown etiology. In fact, only in 10-25% of cases it is possible to recognize a specific cause, be it genetic or enviromental. Many different studies have pointed to a genetic component in A, indicating that several genes interact … Read more

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