about
Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemiaMutations in PCSK9 cause autosomal dominant hypercholesterolemiaExome sequencing in suspected monogenic dyslipidemias.French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertionR3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia.A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1.Living the PCSK9 adventure: from the identification of a new gene in familial hypercholesterolemia towards a potential new class of anticholesterol drugs.Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia.[After the LDL receptor and apolipoprotein B, autosomal dominant hypercholesterolemia reveals its third protagonist: PCSK9].The UMD-LDLR database: additions to the software and 490 new entries to the database.Molecular spectrum of autosomal dominant hypercholesterolemia in France.Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation.Genetic heterogeneity of autosomal dominant hypercholesterolemia.Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.Strategies for proprotein convertase subtilisin kexin 9 modulation: a perspective on recent patents.Proprotein convertase subtilisin / kexin 9 (PCSK9) inhibitors and the future of dyslipidemia therapy: an updated patent review (2011-2015).Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco.Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene.Genomic characterization of two deletions in the LDLR gene in Tunisian patients with familial hypercholesterolemia.Limited mutational heterogeneity in the LDLR gene in familial hypercholesterolemia in Tunisia.A novel splice site mutation of the LDL receptor gene in a Tunisian hypercholesterolemic family.PCSK9 polymorphism in a Tunisian cohort: identification of a new allele, L8, and association of allele L10 with reduced coronary heart disease risk.Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients.Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia.The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene.A PCSK9 variant and familial combined hyperlipidaemia.Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico.New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.Resistance to high-fat diet in the female progeny of obese mice fed a control diet during the periconceptual, gestation, and lactation periods.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.Single point mutation at Arg506 of factor V associated with APC resistance and venous thromboembolism: improved detection by PCR-mediated site-directed mutagenesis.Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal alleleDifferent sex-dependent constraints in CTG length variation as explanation for congenital myotonic dystrophyIdentification of the first Lebanese mutation in the LPL gene and description of a rapid detection methodIntronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia[PCSK9, from gene to protein: a new actor involved in cholesterol homeostasis]C57BL/6J and A/J mice fed a high-fat diet delineate components of metabolic syndrome[Anti-PCSK9 in coronary artery disease: genetic progress, therapeutic approaches]
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Jean-Pierre Rabès
@en
Jean-Pierre Rabès
@es
Jean-Pierre Rabès
@nl
Jean-Pierre Rabès
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type
label
Jean-Pierre Rabès
@en
Jean-Pierre Rabès
@es
Jean-Pierre Rabès
@nl
Jean-Pierre Rabès
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prefLabel
Jean-Pierre Rabès
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Jean-Pierre Rabès
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Jean-Pierre Rabès
@nl
Jean-Pierre Rabès
@sl
P106
P21
P31
P496
0000-0002-1215-1493