about
A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP familyLoss of STK11 expression is an early event in prostate carcinogenesis and predicts therapeutic response to targeted therapy against MAPK/p38.Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variantsIn silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients.A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency.Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.Establishment and characterization of a highly immunogenic human renal carcinoma cell linePapillary thyroid carcinoma in Peutz-Jeghers syndrome.APC is essential for targeting phosphorylated beta-catenin to the SCFbeta-TrCP ubiquitin ligase.Novel splice isoforms of STRADalpha differentially affect LKB1 activity, complex assembly and subcellular localization.Functional analysis of LKB1/STK11 mutants and two aberrant isoforms found in Peutz-Jeghers Syndrome patients.Cancer family syndrome: cytogenetic investigations, in vitro tetraploidy, and biomarker studies in a large family.Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.Survey of KRAS, BRAF and PIK3CA mutational status in 209 consecutive Italian colorectal cancer patients.Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.Comparison of clinical and demographic features between affected pairs of Italian multiple sclerosis multiplex families; relation to tumour necrosis factor genomic polymorphisms.Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects.Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study.Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC.Linkage studies in Italian families with familial adenomatous polyposis.A rare MSH2 mutation causes defective binding to hMSH6, normal hMSH2 staining, and loss of hMSH6 at advanced cancer stageIdentification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutationAnalysis of telomere dynamics in peripheral blood cells from patients with Lynch syndromeThe familial adenomatous polyposis region exhibits many different haplotypesFamilial adenomatous polyposis: identification of a new frameshift mutation of the APC gene in an Italian familyDepressed level of natural killer cells in cancer family syndromeInfertility in carriers of two bisatellited marker chromosomesAn LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sitesNeurofibromatosis type 1 and melanoma of the iris arising from a dysplastic nevus: A rare yet casual association?Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3'-endComment on: Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever: replyThe grandfather's feverImprovement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean feverIn-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and ClassificationFamilial Mediterranean fever: breaking all the (genetic) rules
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հետազոտող
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A Stella
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P106
P31
P496
0000-0002-9035-6267