Lista de obras - Sabrina Prudente - Dominio Público Uruguay

A functional variant of the adipocyte glycerol channel aquaporin 7 gene is associated with obesity and related metabolic abnormalities

artículo científico publicado en 2007

A genetic marker of hyperuricemia predicts cardiovascular events in a meta-analysis of three cohort studies in high risk patients

artículo científico publicado en 2015

A polymorphism at the IL6ST (gp130) locus is associated with traits of the metabolic syndrome.

artículo científico publicado en 2008

Association between a genetic variant related to glutamic acid metabolism and coronary heart disease in individuals with type 2 diabetes

artículo científico publicado en 2013

Chromosomal sensitivity to clastogenic agents and cell cycle perturbations in Nijmegen breakage syndrome lymphoblastoid cell lines.

artículo científico publicado en 1997

Clinical worthlessness of genetic prediction of common forms of diabetes mellitus and related chronic complications: A position statement of the Italian Society of Diabetology

artículo científico publicado en 2016

ENPP1 affects insulin action and secretion: evidences from in vitro studies.

artículo científico publicado en 2011

ENPP1 gene, insulin resistance and related clinical outcomes

artículo científico publicado en 2007

ENPP1 mRNA levels in white blood cells and prediction of metformin efficacy in type 2 diabetic patients: A preliminary evidence

artículo científico publicado en 2011

Familial diabetes of adulthood: A bin of ignorance that needs to be addressed.

artículo científico publicado en 2017

GALNT2 expression is reduced in patients with Type 2 diabetes: possible role of hyperglycemia.

artículo científico publicado en 2013

Genetic Variant at the GLUL Locus Predicts All-Cause Mortality in Patients With Type 2 Diabetes

artículo científico publicado en 2015

Glutamine to arginine substitution at amino acid 84 of mammalian tribbles homolog TRIB3 and CKD in whites with type 2 diabetes

artículo científico publicado en 2007

Heterogeneous effects of gene polymorphism on type 2 diabetes risk: Lesson from the PPARγ2 Pro12Ala

article

IRS1 G972R missense polymorphism is associated with failure to oral antidiabetes drugs in white patients with type 2 diabetes from Italy.

artículo científico publicado en 2014

IRS1 G972R polymorphism and type 2 diabetes: a paradigm for the difficult ascertainment of the contribution to disease susceptibility of 'low-frequency-low-risk' variants.

artículo científico publicado en 2009

Identification and Clinical Characterization of Adult Patients with Multigenerational Diabetes Mellitus

artículo científico publicado en 2015

Impact of the PPAR-gamma2 Pro12Ala polymorphism and ACE inhibitor therapy on new-onset microalbuminuria in type 2 diabetes: evidence from BENEDICT

scientific article published on 31 August 2009

Infrequent TRIB3 coding variants and coronary artery disease in type 2 diabetes

artículo científico publicado en 2015

Insights From Molecular Characterization of Adult Patients of Families With Multigenerational Diabetes

artículo científico publicado en 2017

Insulin signaling regulating genes: effect on T2DM and cardiovascular risk.

artículo científico publicado en 2009

Interaction between PPARgamma2 variants and gender on the modulation of body weight.

artículo científico publicado en 2008

Interaction of DIO2 T92A and PPARgamma2 P12A polymorphisms in the modulation of metabolic syndrome.

artículo científico publicado en 2007

Joint effect of insulin signaling genes on cardiovascular events and on whole body and endothelial insulin resistance

artículo científico publicado en 2012

Joint effect of insulin signaling genes on insulin secretion and glucose homeostasis.

artículo científico publicado en 2013

Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus

scientific journal article

Molecular prenatal diagnosis of ataxia telangiectasia heterozygosity by direct mutational assays

artículo científico publicado en 1999

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

artículo científico publicado en 2015

PPAR 2 P12A polymorphism and albuminuria in patients with type 2 diabetes: a meta-analysis of case-control studies

article

PPARA Polymorphism Influences the Cardiovascular Benefit of Fenofibrate in Type 2 Diabetes: Findings From ACCORD-Lipid

scientific article published on 23 January 2020

ROCK2 and its alternatively spliced isoform ROCK2m positively control the maturation of the myogenic program

artículo científico publicado en 2007

Role of insulin resistance in kidney dysfunction: insights into the mechanism and epidemiological evidence.

artículo científico publicado en 2012

Role of the ENPP1 K121Q polymorphism in glucose homeostasis.

artículo científico publicado en 2008

Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia.

artículo científico publicado en 2003

Some Doubts About the Mantra on the Deleterious Cardiovascular Effects of Sulfonylureas.

artículo científico publicado en 2017

TRIB3 R84 Variant Is Associated With Impaired Insulin-Mediated Nitric Oxide Production in Human Endothelial Cells

artículo científico publicado en 2008

TRIB3 R84 variant affects glucose homeostasis by altering the interplay between insulin sensitivity and secretion

artículo científico publicado en 2010

The "Sapienza University Mortality and Morbidity Event Rate (SUMMER) study in diabetes": Study protocol

artículo científico publicado en 2015

The 9p21 coronary artery disease locus and kidney dysfunction in patients with Type 2 diabetes mellitus.

artículo científico publicado en 2012

The ENPP1 K121Q polymorphism is associated with type 2 diabetes in European populations: evidence from an updated meta-analysis in 42,042 subjects

artículo científico publicado en 2007

The ENPP1 Q121 variant predicts major cardiovascular events in high-risk individuals: evidence for interaction with obesity in diabetic patients

artículo científico publicado en 2011

The IRS1 G972R polymorphism and glomerular filtration rate in patients with type 2 diabetes of European ancestry.

artículo científico publicado en 2013

The K121Q Polymorphism of the ENPP1/PC-1 Gene Is Associated With Insulin Resistance/Atherogenic Phenotypes, Including Earlier Onset of Type 2 Diabetes and Myocardial Infarction

article

The PPARγ2 P12A polymorphism is not associated with all-cause mortality in patients with type 2 diabetes mellitus

artículo científico publicado en 2016

The Pleiotropic Effect of theENPP1(PC-1) Gene on Insulin Resistance, Obesity, and Type 2 Diabetes

article

The SH2B1 obesity locus and abnormal glucose homeostasis: lack of evidence for association from a meta-analysis in individuals of European ancestry.

artículo científico publicado en 2013

The SH2B1 obesity locus is associated with myocardial infarction in diabetic patients and with NO synthase activity in endothelial cells

artículo científico publicado en 2011

The TRIB3 Q84R polymorphism and risk of early-onset type 2 diabetes

artículo científico publicado en 2008

The TRIB3 Q84R polymorphism, insulin resistance and related metabolic alterations.

artículo científico publicado en 2015

The TRIB3 R84 variant is associated with increased carotid intima-media thickness in vivo and with enhanced MAPK signalling in human endothelial cells

artículo científico publicado en 2010

The common -866G/A polymorphism in the promoter region of the UCP-2 gene is associated with reduced risk of type 2 diabetes in Caucasians from Italy

artículo científico publicado en 2004

The ectonucleotide pyrophosphatase phosphodiesterase 1 (ENPP1) K121Q polymorphism modulates the beneficial effect of weight loss on fasting glucose in non-diabetic individuals.

artículo científico publicado en 2012

The emerging role of TRIB3 as a gene affecting human insulin resistance and related clinical outcomes.

artículo científico publicado en 2009

The functional Q84R polymorphism of mammalian Tribbles homolog TRB3 is associated with insulin resistance and related cardiovascular risk in Caucasians from Italy

artículo científico publicado en 2005

The novel loss of function Ile354Val mutation in PPARG causes familial partial lipodystrophy

scientific article published on 20 December 2019

The rs12917707 polymorphism at theUMODlocus and glomerular filtration rate in individuals with type 2 diabetes: evidence of heterogeneity across two different European populations

artículo científico publicado en 2017

The type 2 diabetes and insulin-resistance locus near IRS1 is a determinant of HDL cholesterol and triglycerides levels among diabetic subjects

artículo científico publicado en 2011

Two New Severe Mutations Causing Guanidinoacetate Methyltransferase Deficiency

artículo científico publicado en 2000

Unusual association of SCN2A epileptic encephalopathy with severe cortical dysplasia detected by prenatal MRI.

artículo científico publicado en 2017

Lista de obras de Sabrina Prudente

A functional variant of the adipocyte glycerol channel aquaporin 7 gene is associated with obesity and related metabolic abnormalities

A genetic marker of hyperuricemia predicts cardiovascular events in a meta-analysis of three cohort studies in high risk patients

A polymorphism at the IL6ST (gp130) locus is associated with traits of the metabolic syndrome.

Association between a genetic variant related to glutamic acid metabolism and coronary heart disease in individuals with type 2 diabetes

Chromosomal sensitivity to clastogenic agents and cell cycle perturbations in Nijmegen breakage syndrome lymphoblastoid cell lines.

Clinical worthlessness of genetic prediction of common forms of diabetes mellitus and related chronic complications: A position statement of the Italian Society of Diabetology

ENPP1 affects insulin action and secretion: evidences from in vitro studies.

ENPP1 gene, insulin resistance and related clinical outcomes

ENPP1 mRNA levels in white blood cells and prediction of metformin efficacy in type 2 diabetic patients: A preliminary evidence

Familial diabetes of adulthood: A bin of ignorance that needs to be addressed.

GALNT2 expression is reduced in patients with Type 2 diabetes: possible role of hyperglycemia.

Genetic Variant at the GLUL Locus Predicts All-Cause Mortality in Patients With Type 2 Diabetes

Glutamine to arginine substitution at amino acid 84 of mammalian tribbles homolog TRIB3 and CKD in whites with type 2 diabetes

Heterogeneous effects of gene polymorphism on type 2 diabetes risk: Lesson from the PPARγ2 Pro12Ala

IRS1 G972R missense polymorphism is associated with failure to oral antidiabetes drugs in white patients with type 2 diabetes from Italy.

IRS1 G972R polymorphism and type 2 diabetes: a paradigm for the difficult ascertainment of the contribution to disease susceptibility of 'low-frequency-low-risk' variants.

Identification and Clinical Characterization of Adult Patients with Multigenerational Diabetes Mellitus

Impact of the PPAR-gamma2 Pro12Ala polymorphism and ACE inhibitor therapy on new-onset microalbuminuria in type 2 diabetes: evidence from BENEDICT

Infrequent TRIB3 coding variants and coronary artery disease in type 2 diabetes

Insights From Molecular Characterization of Adult Patients of Families With Multigenerational Diabetes

Insulin signaling regulating genes: effect on T2DM and cardiovascular risk.

Interaction between PPARgamma2 variants and gender on the modulation of body weight.

Interaction of DIO2 T92A and PPARgamma2 P12A polymorphisms in the modulation of metabolic syndrome.

Joint effect of insulin signaling genes on cardiovascular events and on whole body and endothelial insulin resistance

Joint effect of insulin signaling genes on insulin secretion and glucose homeostasis.

Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus

Molecular prenatal diagnosis of ataxia telangiectasia heterozygosity by direct mutational assays

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

PPAR 2 P12A polymorphism and albuminuria in patients with type 2 diabetes: a meta-analysis of case-control studies

PPARA Polymorphism Influences the Cardiovascular Benefit of Fenofibrate in Type 2 Diabetes: Findings From ACCORD-Lipid

ROCK2 and its alternatively spliced isoform ROCK2m positively control the maturation of the myogenic program

Role of insulin resistance in kidney dysfunction: insights into the mechanism and epidemiological evidence.

Role of the ENPP1 K121Q polymorphism in glucose homeostasis.

Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia.

Some Doubts About the Mantra on the Deleterious Cardiovascular Effects of Sulfonylureas.

TRIB3 R84 Variant Is Associated With Impaired Insulin-Mediated Nitric Oxide Production in Human Endothelial Cells

TRIB3 R84 variant affects glucose homeostasis by altering the interplay between insulin sensitivity and secretion

The "Sapienza University Mortality and Morbidity Event Rate (SUMMER) study in diabetes": Study protocol

The 9p21 coronary artery disease locus and kidney dysfunction in patients with Type 2 diabetes mellitus.

The ENPP1 K121Q polymorphism is associated with type 2 diabetes in European populations: evidence from an updated meta-analysis in 42,042 subjects

The ENPP1 Q121 variant predicts major cardiovascular events in high-risk individuals: evidence for interaction with obesity in diabetic patients

The IRS1 G972R polymorphism and glomerular filtration rate in patients with type 2 diabetes of European ancestry.

The K121Q Polymorphism of the ENPP1/PC-1 Gene Is Associated With Insulin Resistance/Atherogenic Phenotypes, Including Earlier Onset of Type 2 Diabetes and Myocardial Infarction

The PPARγ2 P12A polymorphism is not associated with all-cause mortality in patients with type 2 diabetes mellitus

The Pleiotropic Effect of theENPP1(PC-1) Gene on Insulin Resistance, Obesity, and Type 2 Diabetes

The SH2B1 obesity locus and abnormal glucose homeostasis: lack of evidence for association from a meta-analysis in individuals of European ancestry.

The SH2B1 obesity locus is associated with myocardial infarction in diabetic patients and with NO synthase activity in endothelial cells

The TRIB3 Q84R polymorphism and risk of early-onset type 2 diabetes

The TRIB3 Q84R polymorphism, insulin resistance and related metabolic alterations.

The TRIB3 R84 variant is associated with increased carotid intima-media thickness in vivo and with enhanced MAPK signalling in human endothelial cells

The common -866G/A polymorphism in the promoter region of the UCP-2 gene is associated with reduced risk of type 2 diabetes in Caucasians from Italy

The ectonucleotide pyrophosphatase phosphodiesterase 1 (ENPP1) K121Q polymorphism modulates the beneficial effect of weight loss on fasting glucose in non-diabetic individuals.

The emerging role of TRIB3 as a gene affecting human insulin resistance and related clinical outcomes.

The functional Q84R polymorphism of mammalian Tribbles homolog TRB3 is associated with insulin resistance and related cardiovascular risk in Caucasians from Italy

The novel loss of function Ile354Val mutation in PPARG causes familial partial lipodystrophy

The rs12917707 polymorphism at theUMODlocus and glomerular filtration rate in individuals with type 2 diabetes: evidence of heterogeneity across two different European populations

The type 2 diabetes and insulin-resistance locus near IRS1 is a determinant of HDL cholesterol and triglycerides levels among diabetic subjects

Two New Severe Mutations Causing Guanidinoacetate Methyltransferase Deficiency

Unusual association of SCN2A epileptic encephalopathy with severe cortical dysplasia detected by prenatal MRI.