Lista de obras - Isabelle Ruel - Dominio Público Uruguay

APOE p.Leu167del mutation in familial hypercholesterolemia.

artículo científico publicado en 2013

Analysis of lipid transfer activity between model nascent HDL particles and plasma lipoproteins: implications for current concepts of nascent HDL maturation and genesis

artículo científico publicado en 2009

Aortic Calcification Progression in Heterozygote Familial Hypercholesterolemia

artículo científico publicado en 2017

Canadian Cardiovascular Society position statement on familial hypercholesterolemia

artículo científico publicado en 2014

Carboxyl-terminal disulfide bond of acid sphingomyelinase is critical for its secretion and enzymatic function.

artículo científico publicado en 2007

Characterization of LDL particle size among carriers of a defective or a null mutation in the lipoprotein lipase gene: the Québec LIPD Study

artículo científico publicado en 2002

Characterization of a novel mutation causing hepatic lipase deficiency among French Canadians

artículo científico publicado en 2003

Cholesterol trapping in Niemann-Pick disease type B fibroblasts can be relieved by expressing the phosphotyrosine binding domain of GULP ⬇️

artículo científico publicado el 22 de febrero de 2012

Comparison of treatment of severe high-density lipoprotein cholesterol deficiency in men with daily atorvastatin (20 mg) versus fenofibrate (200 mg) versus extended-release niacin (2 g).

artículo científico publicado en 2008

Desmocollin 1 is abundantly expressed in atherosclerosis and impairs high-density lipoprotein biogenesis

artículo científico publicado en 2017

Determinants of HDL particle size in patients with the null (P207L) or defective (D9N) mutation in the lipoprotein lipase gene: the Québec LipD Study

artículo científico publicado en 2002

Diabetes is associated with an increased risk of cardiovascular disease in patients with familial hypercholesterolemia

scientific article published in 2018

Disorders of high‐density lipoprotein biogenesis

Effect of ABCA1 mutations on risk for myocardial infarction

scientific article published on October 2008

Effects of fenofibrate on apolipoprotein kinetics in patients with coexisting dysbetalipoproteinemia and heterozygous familial hypercholesterolemia

artículo científico publicado en 2005

Evidence that hepatic lipase deficiency in humans is not associated with proatherogenic changes in HDL composition and metabolism

artículo científico publicado en 2004

Exome sequencing identifies 2 rare variants for low high-density lipoprotein cholesterol in an extended family

artículo científico publicado en 2012

Exome sequencing in suspected monogenic dyslipidemias

artículo científico publicado en 2015

Familial hypercholesterolemia in Canada: Initial results from the FH Canada national registry

article

Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects

artículo científico publicado en 2009

Functional mutations of the ABCA1 gene in subjects of French-Canadian descent with HDL deficiency

artículo científico publicado en 2005

Genetic variation at the proprotein convertase subtilisin/kexin type 5 gene modulates high-density lipoprotein cholesterol levels

artículo científico publicado en 2009

Genetics of cholesterol efflux

artículo científico publicado en 2012

High-density lipoprotein mediated cellular cholesterol efflux in acute coronary syndromes

artículo científico publicado en 2013

Identification of a novel human cellular HDL biosynthesis defect.

artículo científico publicado en 2009

Identification of an ABCA1-dependent phospholipid-rich plasma membrane apolipoprotein A-I binding site for nascent HDL formation: implications for current models of HDL biogenesis

article

Imputation of Baseline LDL Cholesterol Concentration in Patients with Familial Hypercholesterolemia on Statins or Ezetimibe

artículo científico publicado en 2017

Increased production of VLDL apoB-100 in subjects with familial hypercholesterolemia carrying the same null LDL receptor gene mutation

artículo científico publicado en 2004

Lipoprotein-associated phospholipase A(2) (Lp-PLA(2)) in acute coronary syndrome: relationship with low-density lipoprotein cholesterol

artículo científico publicado en 2013

Membrane microdomains modulate oligomeric ABCA1 function: impact on apoAI-mediated lipid removal and phosphatidylcholine biosynthesis ⬇️

artículo científico publicado el 16 de agosto de 2011

Quantitative analysis of ABCA1-dependent compartmentalization and trafficking of apolipoprotein A-I: implications for determining cellular kinetics of nascent high density lipoprotein biogenesis

artículo científico publicado en 2008

Severe xanthomatosis in heterozygous familial hypercholesterolemia

scientific article published in 2018

Simplified Canadian Definition for Familial Hypercholesterolemia

article

Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants do not contribute to low levels of high-density lipoprotein cholesterol

artículo científico publicado en 2007

The Essential Role of Primary Caregiver in Early Detection of Familial Hypercholesterolemia and Cardiovascular Prevention

artículo científico publicado en 2017

The Genetics of Dilated Cardiomyopathy: A Prioritized Candidate Gene Study of LMNA, TNNT2, TCAP, and PLN ⬇️

artículo científico publicado el 27 de agosto de 2013

The HDL proteome in acute coronary syndromes shifts to an inflammatory profile ⬇️

artículo científico publicado el 23 de julio de 2011

The WWOX gene modulates high-density lipoprotein and lipid metabolism

artículo científico publicado en 2014

Lista de obras de Isabelle Ruel

APOE p.Leu167del mutation in familial hypercholesterolemia.

Analysis of lipid transfer activity between model nascent HDL particles and plasma lipoproteins: implications for current concepts of nascent HDL maturation and genesis

Aortic Calcification Progression in Heterozygote Familial Hypercholesterolemia

Canadian Cardiovascular Society position statement on familial hypercholesterolemia

Carboxyl-terminal disulfide bond of acid sphingomyelinase is critical for its secretion and enzymatic function.

Characterization of LDL particle size among carriers of a defective or a null mutation in the lipoprotein lipase gene: the Québec LIPD Study

Characterization of a novel mutation causing hepatic lipase deficiency among French Canadians

Cholesterol trapping in Niemann-Pick disease type B fibroblasts can be relieved by expressing the phosphotyrosine binding domain of GULP ⬇️

Comparison of treatment of severe high-density lipoprotein cholesterol deficiency in men with daily atorvastatin (20 mg) versus fenofibrate (200 mg) versus extended-release niacin (2 g).

Desmocollin 1 is abundantly expressed in atherosclerosis and impairs high-density lipoprotein biogenesis

Determinants of HDL particle size in patients with the null (P207L) or defective (D9N) mutation in the lipoprotein lipase gene: the Québec LipD Study

Diabetes is associated with an increased risk of cardiovascular disease in patients with familial hypercholesterolemia

Disorders of high‐density lipoprotein biogenesis

Effect of ABCA1 mutations on risk for myocardial infarction

Effects of fenofibrate on apolipoprotein kinetics in patients with coexisting dysbetalipoproteinemia and heterozygous familial hypercholesterolemia

Evidence that hepatic lipase deficiency in humans is not associated with proatherogenic changes in HDL composition and metabolism

Exome sequencing identifies 2 rare variants for low high-density lipoprotein cholesterol in an extended family

Exome sequencing in suspected monogenic dyslipidemias

Familial hypercholesterolemia in Canada: Initial results from the FH Canada national registry

Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects

Functional mutations of the ABCA1 gene in subjects of French-Canadian descent with HDL deficiency

Genetic variation at the proprotein convertase subtilisin/kexin type 5 gene modulates high-density lipoprotein cholesterol levels

Genetics of cholesterol efflux

High-density lipoprotein mediated cellular cholesterol efflux in acute coronary syndromes

Identification of a novel human cellular HDL biosynthesis defect.

Identification of an ABCA1-dependent phospholipid-rich plasma membrane apolipoprotein A-I binding site for nascent HDL formation: implications for current models of HDL biogenesis

Imputation of Baseline LDL Cholesterol Concentration in Patients with Familial Hypercholesterolemia on Statins or Ezetimibe

Increased production of VLDL apoB-100 in subjects with familial hypercholesterolemia carrying the same null LDL receptor gene mutation

Lipoprotein-associated phospholipase A(2) (Lp-PLA(2)) in acute coronary syndrome: relationship with low-density lipoprotein cholesterol

Membrane microdomains modulate oligomeric ABCA1 function: impact on apoAI-mediated lipid removal and phosphatidylcholine biosynthesis ⬇️

Quantitative analysis of ABCA1-dependent compartmentalization and trafficking of apolipoprotein A-I: implications for determining cellular kinetics of nascent high density lipoprotein biogenesis

Severe xanthomatosis in heterozygous familial hypercholesterolemia

Simplified Canadian Definition for Familial Hypercholesterolemia

Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants do not contribute to low levels of high-density lipoprotein cholesterol

The Essential Role of Primary Caregiver in Early Detection of Familial Hypercholesterolemia and Cardiovascular Prevention

The Genetics of Dilated Cardiomyopathy: A Prioritized Candidate Gene Study of LMNA, TNNT2, TCAP, and PLN ⬇️

The HDL proteome in acute coronary syndromes shifts to an inflammatory profile ⬇️

The WWOX gene modulates high-density lipoprotein and lipid metabolism