Lista de obras - Frederique Magdinier - Dominio Público Uruguay

26th Annual Facioscapulohumeral Dystrophy International Research Congress Marseille, France, 19-20 June 2019

artículo científico publicado en 2019

A multi-objective genetic algorithm to find active modules in multiplex biological networks

artículo científico publicado en 2021

Abundance ofBRCA1 transcripts in human cancer and lymphoblastoid cell lines carryingBRCA1 germ-line alterations ⬇️

artículo científico publicado el 27 de noviembre de 1997

Acacetin and chrysin, two polyphenolic compounds, alleviate telomeric position effect in human cells.

artículo científico publicado en 2013

Accelerated senescence of cord blood endothelial progenitor cells in premature neonates is driven by SIRT1 decreased expression

artículo científico publicado en 2014

Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy

scientific article published on 17 July 2019

BRCA1 expression during prenatal development of the human mammary gland

scientific article published on 01 July 1999

Biogenesis of Pro-senescent Microparticles by Endothelial Colony Forming Cells from Premature Neonates is driven by SIRT1-Dependent Epigenetic Regulation of MKK6.

artículo científico publicado en 2017

Both CTCF-dependent and -independent insulators are found between the mouse T cell receptor alpha and Dad1 genes

artículo científico publicado en 2004

Bring It to an End: Does Telomeres Size Matter?

scientific article published on 08 January 2019

CLLD8/KMT1F is a lysine methyltransferase that is important for chromosome segregation

artículo científico publicado en 2010

Chromatin boundaries and chromatin domains.

artículo científico publicado en 2004

Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy

artículo científico

D4Z4 as a prototype of CTCF and lamins-dependent insulator in human cells

artículo científico publicado en 2010

DNA methylation in satellite repeats disorders

artículo científico publicado en 2019

DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

artículo científico publicado en 2013

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

artículo científico publicado en 2017

Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy

artículo científico publicado en 2019

Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy

artículo científico publicado en 2013

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

scientific article published on 16 July 2014

Does DNA Methylation Matter in FSHD?

artículo científico publicado en 2020

Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy

artículo científico publicado en 2013

Efficient and cost-effective generation of mature neurons from human induced pluripotent stem cells

artículo científico publicado en 2014

Epigenetic marks at BRCA1 and p53 coding sequences in early human embryogenesis.

artículo científico publicado en 2002

Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells‐derived innervated muscle fibres

artículo científico publicado en 2021

Global analysis of DNA methylation and transcription of human repetitive sequences.

artículo científico publicado en 2009

HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models

artículo científico publicado en 2022

Identification of a perinuclear positioning element in human subtelomeres that requires A-type lamins and CTCF.

artículo científico publicado en 2009

Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype

artículo científico publicado en 2015

In Vitro Analysis of the Effects of ITER-Like Tungsten Nanoparticles: Cytotoxicity and Epigenotoxicity in BEAS-2B Cells

scientific article published on 30 August 2019

Insulator dynamics and the setting of chromatin domains.

artículo científico publicado en 2004

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies

artículo científico publicado en 2020

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

artículo científico publicado en 2015

MeCP2 and MBD2 expression during normal and pathological growth of the human mammary gland

artículo científico publicado en 2002

Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism

scientific article published on 14 November 2019

Mitochondrial function in skeletal myofibers is controlled by a TRF2-SIRT3 axis over lifetime

scientific article published on 28 January 2020

Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.

artículo científico publicado en 2017

Multilineage Differentiation for Formation of Innervated Skeletal Muscle Fibers from Healthy and Diseased Human Pluripotent Stem Cells

artículo científico publicado en 2020

Physiological and Pathological Aging Affects Chromatin Dynamics, Structure and Function at the Nuclear Edge

artículo científico publicado en 2016

Platination of telomeric DNA by cisplatin disrupts recognition by TRF2 and TRF1.

artículo científico publicado en 2010

Prevalence of BTK mutations in male Algerian patterns with agammaglobulinemia and severe B cell lymphopenia

artículo científico publicado en 2015

Replication timing of human telomeres is chromosome arm-specific, influenced by subtelomeric structures and connected to nuclear localization

artículo científico publicado en 2010

Retroviral transduction of splice variant Brca1-Delta11 or mutant Brca1-W1777Stop causes mouse epithelial mammary atypical duct hyperplasia.

artículo científico publicado en 2001

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite

scientific article published on 01 April 2019

SORBS2 transcription is activated by telomere position effect-over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophy

artículo científico publicado en 2015

Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report

artículo científico publicado en 2016

Specific binding of the methyl binding domain protein 2 at the BRCA1-NBR2 locus.

artículo científico publicado en 2005

TRF2 and apollo cooperate with topoisomerase 2alpha to protect human telomeres from replicative damage

artículo científico publicado en 2010

TRF2 controls telomeric nucleosome organization in a cell cycle phase-dependent manner

artículo científico publicado en 2012

Telomere position effect: regulation of gene expression with progressive telomere shortening over long distances.

artículo científico publicado en 2014

Telomere protection and TRF2 expression are enhanced by the canonical Wnt signalling pathway.

artículo científico publicado en 2013

Telomeric position effect: from the yeast paradigm to human pathologies?

artículo científico publicado en 2007

The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy.

artículo científico publicado en 2009

The human TTAGGG repeat factors 1 and 2 bind to a subset of interstitial telomeric sequences and satellite repeats

artículo científico publicado en 2011

The human enhancer blocker CTC-binding factor interacts with the transcription factor Kaiso

artículo científico publicado en 2005

Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention

artículo científico publicado en 2020

Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy

artículo científico publicado en 2019

[Marseille welcomes the FSHD Society International Research Conference]

scientific article published on 01 November 2019

miRNA expression in control and FSHD fetal human muscle biopsies

artículo científico publicado en 2015

Lista de obras de Frederique Magdinier

26th Annual Facioscapulohumeral Dystrophy International Research Congress Marseille, France, 19-20 June 2019

A multi-objective genetic algorithm to find active modules in multiplex biological networks

Abundance ofBRCA1 transcripts in human cancer and lymphoblastoid cell lines carryingBRCA1 germ-line alterations ⬇️

Acacetin and chrysin, two polyphenolic compounds, alleviate telomeric position effect in human cells.

Accelerated senescence of cord blood endothelial progenitor cells in premature neonates is driven by SIRT1 decreased expression

Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy

BRCA1 expression during prenatal development of the human mammary gland

Biogenesis of Pro-senescent Microparticles by Endothelial Colony Forming Cells from Premature Neonates is driven by SIRT1-Dependent Epigenetic Regulation of MKK6.

Both CTCF-dependent and -independent insulators are found between the mouse T cell receptor alpha and Dad1 genes

Bring It to an End: Does Telomeres Size Matter?

CLLD8/KMT1F is a lysine methyltransferase that is important for chromosome segregation

Chromatin boundaries and chromatin domains.

Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy

D4Z4 as a prototype of CTCF and lamins-dependent insulator in human cells

DNA methylation in satellite repeats disorders

DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy

Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

Does DNA Methylation Matter in FSHD?

Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy

Efficient and cost-effective generation of mature neurons from human induced pluripotent stem cells

Epigenetic marks at BRCA1 and p53 coding sequences in early human embryogenesis.

Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells‐derived innervated muscle fibres

Global analysis of DNA methylation and transcription of human repetitive sequences.

HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models

Identification of a perinuclear positioning element in human subtelomeres that requires A-type lamins and CTCF.

Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype

In Vitro Analysis of the Effects of ITER-Like Tungsten Nanoparticles: Cytotoxicity and Epigenotoxicity in BEAS-2B Cells

Insulator dynamics and the setting of chromatin domains.

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

MeCP2 and MBD2 expression during normal and pathological growth of the human mammary gland

Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism

Mitochondrial function in skeletal myofibers is controlled by a TRF2-SIRT3 axis over lifetime

Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.

Multilineage Differentiation for Formation of Innervated Skeletal Muscle Fibers from Healthy and Diseased Human Pluripotent Stem Cells

Physiological and Pathological Aging Affects Chromatin Dynamics, Structure and Function at the Nuclear Edge

Platination of telomeric DNA by cisplatin disrupts recognition by TRF2 and TRF1.

Prevalence of BTK mutations in male Algerian patterns with agammaglobulinemia and severe B cell lymphopenia

Replication timing of human telomeres is chromosome arm-specific, influenced by subtelomeric structures and connected to nuclear localization

Retroviral transduction of splice variant Brca1-Delta11 or mutant Brca1-W1777Stop causes mouse epithelial mammary atypical duct hyperplasia.

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite

SORBS2 transcription is activated by telomere position effect-over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophy

Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report

Specific binding of the methyl binding domain protein 2 at the BRCA1-NBR2 locus.

TRF2 and apollo cooperate with topoisomerase 2alpha to protect human telomeres from replicative damage

TRF2 controls telomeric nucleosome organization in a cell cycle phase-dependent manner

Telomere position effect: regulation of gene expression with progressive telomere shortening over long distances.

Telomere protection and TRF2 expression are enhanced by the canonical Wnt signalling pathway.

Telomeric position effect: from the yeast paradigm to human pathologies?

The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy.

The human TTAGGG repeat factors 1 and 2 bind to a subset of interstitial telomeric sequences and satellite repeats

The human enhancer blocker CTC-binding factor interacts with the transcription factor Kaiso

Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention

Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy

[Marseille welcomes the FSHD Society International Research Conference]

miRNA expression in control and FSHD fetal human muscle biopsies