0000000000952636

AUTHOR

Chiara Scrimali

showing 5 related works from this author

Diagnosis of familial hypercholesterolemia in a large cohort of Italian genotyped hypercholesterolemic patients

2022

Background and aims: Familial hypercholesterolemia (FH) is the most relevant genetic cause of early cardiovascular disease (CVD). FH is suspected when low density lipoprotein cholesterol (LDL-C) levels exceed the 95th percentile of the population distribution. Different diagnostic scoring systems have been developed, as the Dutch Lipid Clinic Network (DLCN) score, used worldwide. The aim of the study is to describe the characteristics of FH patients of a large cohort of more than eight hundred genotyped subjects enrolled in an Italian Lipid Clinic, and evaluate the DLCN score performance applied retrospectively to the case study. Methods: 836 hypercholesterolemic patients with LDL-C > 4.…

Cohort StudiesHyperlipoproteinemia Type IIHeterozygoteSettore MED/09 - Medicina InternaSettore BIO/12 - Biochimica Clinica E Biologia Molecolare ClinicaGeneticPredictive scoresFamilial hypercholesterolemiaHumansCholesterol LDLLipidCardiology and Cardiovascular MedicineRetrospective StudiesAtherosclerosis
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TGF-β/VEGF-A Genetic Variants Interplay in Genetic Susceptibility to Non-Melanocytic Skin Cancer

2022

Differential genetically determined expression of transforming growth factor-β (TGF-β pathway and of vascular endothelial growth factor-A (VEGF-A) might modulate the molecular “milieu” involved in the etio-pathogenesis of non-melanoma skin cancer (NMSC). We have evaluated the frequency of some functionally relevant SNPs of TGF-β and VEGF-A genes in 70 NMSC patients and 161 healthy controls, typed for TGF-β1 rs1800471, TGF-β2 rs900, TGF-βR1 rs334348 and rs334349, TGF-βR2 rs4522809 and VEGF-A rs3025039 SNPs. TGF-βR2 rs1800629G allele and related genotypes were found to be associated with a possible protective role against NMSC, whereas VEGF-…

Settore MED/04 - Patologia GeneraleVEGF-A geners1800629<i>TGF-β receptor genes</i>; <i>rs1800629</i>; <i>VEGF-A gene</i>; <i>rs3025039</i>; non melanocytic skin cancer; skin basal cell carcinoma; skin squamous cell carcinoma; genetic susceptibilityTGF-β receptor geneGeneticsskin basal cell carcinomaskin squamous cell carcinomaSettore MED/05 - Patologia Clinicanon melanocytic skin cancerGenetics (clinical)genetic susceptibilityrs3025039Genes; Volume 13; Issue 7; Pages: 1235
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NEXT GENERATION SEQUENCIN: A NEW METHODOLOGICAL APPROACH FOR THE MOLECULAR DIAGNOSIS OF GENETIC DYSLIPIDEMIAS

2014

Settore MED/09 - Medicina InternaNGS DYSLIPIDEMIAS
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A novel therapeutic strategy to cure the Homozygous Familial Hypercholesterolemia with residual LDL receptor activity

2020

Settore MED/09 - Medicina InternaLDLR Homozygous Familial Hypercholesterolemia PCSK9 IDOL
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DETECTION OF NEW GENES RESPONSIBLE OF FAMILIAL RECESSIVE HYPERCHOLESTEROLEMIA: PRELIMINARY DATA FROM AN EXOME SEQUENCING APPROACH

2014

Settore MED/09 - Medicina InternaHypercholesterolemia Exome sequencing
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