Genetica Medica

Responsabile

Prof. Antonio Pizzuti

Componenti

Ricercatori:Viviana Caputo

Assistente di ricerca:Francesca Megiorni

Specializzandi: Enrica Marchionni, Lucia Menale

Attività di Ricerca (Abstract)

L’attività di ricerca si focalizza  sullo studio genetico clinico delle malformazioni del SNC, nonché della regolazione genica post trascrizionale e la ricerca di geni malattia di patologie monogeniche in particolare mediante tecniche di sequenziamento di ultima generazione

Pubblicazioni (max 10)

1.      Prudente S. et al.  Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus. Am J Hum Genet. 2015 Jul 2;97(1):177-85.

2.      Kortüm F et al. Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. Nat Genet. 2015 Jun;47(6):661-7

3.      Kaurah P, et al. Founder and recurrent CDH1mutations in families with hereditary diffuse gastric cancer. JAMA. 2007 Jun 6;297(21):2360-72

4.      De Luca A et al.  NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. Am J Hum Genet. 2005 Dec;77(6):1092-101

5.      Di Paola R et al,  A variation in 3' UTR of hPTP1B increases specific gene expression and associates with insulin resistance. Am J Hum Genet. 2002 Mar;70(3):806-12.

6.      Pizzuti A et  al cDNA characterization and chromosomal mapping of two human homologues of the Drosophila dishevelled polarity gene. Hum Mol Genet. 1996 Jul;5(7):953-8

7.      Fu YH et al Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy. Science. 1993 Apr 9;260(5105):235-8

8.      Fu YH et al An unstable triplet repeat in a generelated to myotonic muscular dystrophy. Science. 1992 Mar 6;255(5049):1256-8

9.      Fu YH et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.Cell. 1991 Dec 20;67(6):1047-58.

10.   Verkerk AJ et al Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell. 1991 May 31;65(5):905-14

Grants

 

 

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