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List of works by Frederique Magdinier

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

scientific article published on 03 September 2019

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

scientific article published on 30 August 2021

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

scientific article published on November 27, 1997

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

scientific article published on 20 August 2013

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

scientific article

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.

scientific article published on 15 August 2017

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

scientific article

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

scientific article

Chromatin boundaries and chromatin domains.

scientific article

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

scientific article published on 28 May 2015

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

scientific article published on January 2010

DNA methylation in satellite repeats disorders

scientific article published on 06 August 2019

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

scientific article (publication date: 20 August 2013)

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

scientific article

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

scientific article published on 22 April 2019

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

scientific article

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?

scientific article published on 28 February 2020

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

scientific article published on 17 June 2013

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

scientific article published on 29 October 2014

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

scientific article published in July 2002

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

scientific article

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

scientific article published on 17 July 2009

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

scientific article published in 2022

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

scientific article published on 30 July 2009

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

scientific article published on 19 March 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.

scientific article published on May 2004

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

scientific article published on 10 April 2020

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

scientific article

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

scientific article

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.

scientific article published on 25 July 2017

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

scientific article published on 23 June 2020

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 22 September 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

scientific article published on 10 September 2015

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 22 February 2013

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

scientific article published on 06 August 2007

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 23 March 2020

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

scientific article published on 01 May 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

scientific article

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