List of works - Mathilde Varret

A PCSK9 variant and familial combined hyperlipidaemia.

scientific article published on 15 August 2008

A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1.

scientific article

A novel splice site mutation of the LDL receptor gene in a Tunisian hypercholesterolemic family.

scientific article published on 4 March 2008

A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32

scientific article

After the LDL receptor and apolipoprotein B, autosomal dominant hypercholesterolemia reveals its third protagonist: PCSK9

scientific article

Angiotensin-converting enzyme gene does not contribute to genetic susceptibility to systemic sclerosis in European Caucasians

scientific article published on February 2009

Apolipoprotein B100 metabolism in autosomal-dominant hypercholesterolemia related to mutations in PCSK9.

scientific article

Association between variants of lipoprotein lipase and coronary heart disease in a Tunisian population ⬇️

scientific article published on May 28, 2011

Autosomal dominant hypercholesterolemia: needs for early diagnosis and cascade screening in the tunisian population

scientific article published on March 2013

Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects.

scientific article published in August 2000

Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation

scientific article published on 11 October 2012

DnaJA4 is a SREBP-regulated chaperone involved in the cholesterol biosynthesis pathway

scientific article published on 26 July 2006

Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients

scientific article published on 19 February 2012

Effect of the p.Arg357His mutation of PCSK9 on basal and postprandial lipoprotein metabolism

Exome sequencing in suspected monogenic dyslipidemias

scientific article

Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene.

scientific article

Genetic heterogeneity of autosomal dominant hypercholesterolemia.

scientific article

Genomic characterization of two deletions in the LDLR gene in Tunisian patients with familial hypercholesterolemia.

scientific article published on 14 August 2012

Heterozygous TGFBR2 mutations in Marfan syndrome

scientific article

Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia

scientific article published on 17 May 2012

Identification of the first Lebanese mutation in the LPL gene and description of a rapid detection method

scientific article published on 01 February 2004

Identification of the first Tangier disease patient in Lebanon carrying a new pathogenic variant in ABCA1

scientific article published in 2018

LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis

scientific article

Limited mutational heterogeneity in the LDLR gene in familial hypercholesterolemia in Tunisia.

scientific article published on 23 July 2008

Living the PCSK9 adventure: from the identification of a new gene in familial hypercholesterolemia towards a potential new class of anticholesterol drugs

scientific article

MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections

scientific article

Moderate phenotypic expression of familial hypercholesterolemia in Tunisia

scientific article published on 6 February 2010

Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease)

scientific article

Molecular spectrum of autosomal dominant hypercholesterolemia in France

scientific article

Mutation analysis in a small cohort of New Zealand patients originating from the United Kingdom demonstrates genetic heterogeneity in familial hypercholesterolemia.

scientific article published on October 2000

Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco.

scientific article

Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.

scientific article published on April 2009

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

scientific article (publication date: June 2003)

NARC-1/PCSK9 and its natural mutants: zymogen cleavage and effects on the low density lipoprotein (LDL) receptor and LDL cholesterol

scientific article

New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.

scientific article published on 31 January 2018

New insights into how adipocytes sense their triglyceride stores. Is cholesterol a signal?

scientific article

Novel LRP5 gene mutation in a patient with osteoporosis-pseudoglioma syndrome

scientific article published on 21 January 2010

Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia

scientific article

PCSK9 Mutations in Familial Hypercholesterolemia: from a Groundbreaking Discovery to Anti-PCSK9 Therapies

scientific article published on 17 October 2017

PCSK9 polymorphism in a Tunisian cohort: identification of a new allele, L8, and association of allele L10 with reduced coronary heart disease risk

scientific article published on 18 September 2014

Plasma proprotein-convertase-subtilisin/kexin type 9 (PCSK9) and cardiovascular events in type 2 diabetes.

scientific article

Postprandial lipid absorption in seven heterozygous carriers of deleterious variants of MTTP in two abetalipoproteinemic families

scientific article published on 24 October 2018

Proprotein convertase subtilisin / kexin 9 (PCSK9) inhibitors and the future of dyslipidemia therapy: an updated patent review (2011-2015).

scientific article published on 30 June 2016

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

scientific article published on 29 May 2012

R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia.

scientific article

Strategies for proprotein convertase subtilisin kexin 9 modulation: a perspective on recent patents

scientific article published on 17 September 2010

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

scientific article

The UMD-LDLR database: additions to the software and 490 new entries to the database.

scientific article

The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene

scientific article published in July 2009

Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia?

scientific article

[Anti-PCSK9 in coronary artery disease: genetic progress, therapeutic approaches]

scientific article published on 01 March 2015

[PCSK9, from gene to protein: a new actor involved in cholesterol homeostasis]

scientific article published on 01 November 2006

List of works by Mathilde Varret

A PCSK9 variant and familial combined hyperlipidaemia.

A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1.

A novel splice site mutation of the LDL receptor gene in a Tunisian hypercholesterolemic family.

A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32

After the LDL receptor and apolipoprotein B, autosomal dominant hypercholesterolemia reveals its third protagonist: PCSK9

Angiotensin-converting enzyme gene does not contribute to genetic susceptibility to systemic sclerosis in European Caucasians

Apolipoprotein B100 metabolism in autosomal-dominant hypercholesterolemia related to mutations in PCSK9.

Association between variants of lipoprotein lipase and coronary heart disease in a Tunisian population ⬇️

Autosomal dominant hypercholesterolemia: needs for early diagnosis and cascade screening in the tunisian population

Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects.

Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation

DnaJA4 is a SREBP-regulated chaperone involved in the cholesterol biosynthesis pathway

Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients

Effect of the p.Arg357His mutation of PCSK9 on basal and postprandial lipoprotein metabolism

Exome sequencing in suspected monogenic dyslipidemias

Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene.

Genetic heterogeneity of autosomal dominant hypercholesterolemia.

Genomic characterization of two deletions in the LDLR gene in Tunisian patients with familial hypercholesterolemia.

Heterozygous TGFBR2 mutations in Marfan syndrome

Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia

Identification of the first Lebanese mutation in the LPL gene and description of a rapid detection method

Identification of the first Tangier disease patient in Lebanon carrying a new pathogenic variant in ABCA1

LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis

Limited mutational heterogeneity in the LDLR gene in familial hypercholesterolemia in Tunisia.

Living the PCSK9 adventure: from the identification of a new gene in familial hypercholesterolemia towards a potential new class of anticholesterol drugs

MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections

Moderate phenotypic expression of familial hypercholesterolemia in Tunisia

Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease)

Molecular spectrum of autosomal dominant hypercholesterolemia in France

Mutation analysis in a small cohort of New Zealand patients originating from the United Kingdom demonstrates genetic heterogeneity in familial hypercholesterolemia.

Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco.

Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

NARC-1/PCSK9 and its natural mutants: zymogen cleavage and effects on the low density lipoprotein (LDL) receptor and LDL cholesterol

New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.

New insights into how adipocytes sense their triglyceride stores. Is cholesterol a signal?

Novel LRP5 gene mutation in a patient with osteoporosis-pseudoglioma syndrome

Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia

PCSK9 Mutations in Familial Hypercholesterolemia: from a Groundbreaking Discovery to Anti-PCSK9 Therapies

PCSK9 polymorphism in a Tunisian cohort: identification of a new allele, L8, and association of allele L10 with reduced coronary heart disease risk

Plasma proprotein-convertase-subtilisin/kexin type 9 (PCSK9) and cardiovascular events in type 2 diabetes.

Postprandial lipid absorption in seven heterozygous carriers of deleterious variants of MTTP in two abetalipoproteinemic families

Proprotein convertase subtilisin / kexin 9 (PCSK9) inhibitors and the future of dyslipidemia therapy: an updated patent review (2011-2015).

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia.

Strategies for proprotein convertase subtilisin kexin 9 modulation: a perspective on recent patents

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

The UMD-LDLR database: additions to the software and 490 new entries to the database.

The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene

Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia?

[Anti-PCSK9 in coronary artery disease: genetic progress, therapeutic approaches]

[PCSK9, from gene to protein: a new actor involved in cholesterol homeostasis]