about
TRF2 and apollo cooperate with topoisomerase 2alpha to protect human telomeres from replicative damageCLLD8/KMT1F is a lysine methyltransferase that is important for chromosome segregationTRF2 controls telomeric nucleosome organization in a cell cycle phase-dependent mannerSpecific binding of the methyl binding domain protein 2 at the BRCA1-NBR2 locus.Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophyPhysiological and Pathological Aging Affects Chromatin Dynamics, Structure and Function at the Nuclear EdgeThe human enhancer blocker CTC-binding factor interacts with the transcription factor KaisoDUX4 and DUX4 downstream target genes are expressed in fetal FSHD musclesDe novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.SORBS2 transcription is activated by telomere position effect-over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophyThe D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy.Replication timing of human telomeres is chromosome arm-specific, influenced by subtelomeric structures and connected to nuclear localization.Accelerated senescence of cord blood endothelial progenitor cells in premature neonates is driven by SIRT1 decreased expression.Telomere position effect: regulation of gene expression with progressive telomere shortening over long distances.Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.miRNA expression in control and FSHD fetal human muscle biopsiesThe human TTAGGG repeat factors 1 and 2 bind to a subset of interstitial telomeric sequences and satellite repeats.Insulator dynamics and the setting of chromatin domains.Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report.Chromatin boundaries and chromatin domains.Telomere protection and TRF2 expression are enhanced by the canonical Wnt signalling pathway.Telomeric position effect: from the yeast paradigm to human pathologies?Acacetin and chrysin, two polyphenolic compounds, alleviate telomeric position effect in human cells.Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy.Prevalence of BTK mutations in male Algerian patterns with agammaglobulinemia and severe B cell lymphopenia.Platination of telomeric DNA by cisplatin disrupts recognition by TRF2 and TRF1.Biogenesis of Pro-senescent Microparticles by Endothelial Colony Forming Cells from Premature Neonates is driven by SIRT1-Dependent Epigenetic Regulation of MKK6.Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype.Efficient and cost-effective generation of mature neurons from human induced pluripotent stem cells.Retroviral transduction of splice variant Brca1-Delta11 or mutant Brca1-W1777Stop causes mouse epithelial mammary atypical duct hyperplasia.Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.Epigenetic marks at BRCA1 and p53 coding sequences in early human embryogenesis.Bring It to an End: Does Telomeres Size Matter?SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatelliteBRCA1 expression during prenatal development of the human mammary glandDoes DNA Methylation Matter in FSHD?Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophyType 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention26th Annual Facioscapulohumeral Dystrophy International Research Congress Marseille, France, 19-20 June 2019Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies
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description
researcher ORCID ID = 0000-0002-0159-9559
@en
wetenschapper
@nl
name
Frederique Magdinier
@ast
Frederique Magdinier
@en
Frederique Magdinier
@es
Frederique Magdinier
@nl
type
label
Frederique Magdinier
@ast
Frederique Magdinier
@en
Frederique Magdinier
@es
Frederique Magdinier
@nl
prefLabel
Frederique Magdinier
@ast
Frederique Magdinier
@en
Frederique Magdinier
@es
Frederique Magdinier
@nl
P106
P31
P4450
frederique-magdinier
P496
0000-0002-0159-9559