List of works - Jean-Pierre Rabès

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

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

scientific article

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

C57BL/6J and A/J mice fed a high-fat diet delineate components of metabolic syndrome

scientific article published on 01 August 2007

Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.

scientific article published on 15 September 2015

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

scientific article published on 11 October 2012

Different sex-dependent constraints in CTG length variation as explanation for congenital myotonic dystrophy

scientific article published on 01 January 1993

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

scientific article published on 19 February 2012

Exome sequencing in suspected monogenic dyslipidemias

scientific article

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

scientific article

French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion

scientific article

Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico

scientific article published in January 2006

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

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

Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia

scientific article published on 13 September 2002

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

Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia

scientific article

Molecular spectrum of autosomal dominant hypercholesterolemia in France

scientific article

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)

Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele

scientific article published on 01 August 1993

Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.

scientific article

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

scientific article published on 31 January 2018

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

scientific article

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

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

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

scientific article

Resistance to high-fat diet in the female progeny of obese mice fed a control diet during the periconceptual, gestation, and lactation periods.

scientific article published on 12 December 2006

Single point mutation at Arg506 of factor V associated with APC resistance and venous thromboembolism: improved detection by PCR-mediated site-directed mutagenesis.

scientific article

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

scientific article published on 17 September 2010

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 Jean-Pierre Rabès

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.

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

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.

C57BL/6J and A/J mice fed a high-fat diet delineate components of metabolic syndrome

Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.

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

Different sex-dependent constraints in CTG length variation as explanation for congenital myotonic dystrophy

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

Exome sequencing in suspected monogenic dyslipidemias

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

French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion

Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico

Genetic heterogeneity of autosomal dominant hypercholesterolemia.

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

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

Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia

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

Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia

Molecular spectrum of autosomal dominant hypercholesterolemia in France

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

Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele

Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.

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

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

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

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).

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

Resistance to high-fat diet in the female progeny of obese mice fed a control diet during the periconceptual, gestation, and lactation periods.

Single point mutation at Arg506 of factor V associated with APC resistance and venous thromboembolism: improved detection by PCR-mediated site-directed mutagenesis.

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

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]