scholarly article | Q13442814 |
P50 | author | Frederique Magdinier | Q57674125 |
Woodring E. Wright | Q59693488 | ||
Jérôme D Robin | Q85999210 | ||
Jerry W Shay | Q89873929 | ||
P2093 | author name string | Kimberly Batten | |
Andrew T Ludlow | |||
Marie-Cécile Gaillard | |||
Guido Stadler | |||
P2860 | cites work | Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene | Q21563391 |
DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1 | Q24299685 | ||
ArgBP2, a Multiple Src Homology 3 Domain-containing, Arg/Abl-interacting Protein, Is Phosphorylated in v-Abl-transformed Cells and Localized in Stress Fibers and Cardiocyte Z-disks | Q24315701 | ||
Simple combinations of lineage-determining transcription factors prime cis-regulatory elements required for macrophage and B cell identities | Q24617969 | ||
A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy | Q24622599 | ||
Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy | Q27322323 | ||
A phylogenetically conserved NAD+-dependent protein deacetylase activity in the Sir2 protein family. | Q27931475 | ||
SIRT6 is required for maintenance of telomere position effect in human cells | Q28114788 | ||
Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element | Q28141267 | ||
The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements | Q28145563 | ||
Population-based incidence and prevalence of facioscapulohumeral dystrophy | Q28245908 | ||
Recruitment of Pyk2 and Cbl to lipid rafts mediates signals important for actin reorganization in growing neurites | Q28260417 | ||
Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis | Q28271204 | ||
A unifying genetic model for facioscapulohumeral muscular dystrophy | Q28291033 | ||
Arg/Abl‐binding protein, a Z‐body and Z‐band protein, binds sarcomeric, costameric, and signaling molecules | Q28294638 | ||
Histone H4 lysine 12 acetylation regulates telomeric heterochromatin plasticity in Saccharomyces cerevisiae | Q28476728 | ||
SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation | Q28506563 | ||
Myomaker is essential for muscle regeneration | Q28585754 | ||
Myomaker is a membrane activator of myoblast fusion and muscle formation | Q28586981 | ||
Analysis of interaction partners for eukaryotic translation elongation factor 1A M-domain by functional proteomics | Q28588898 | ||
The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1 | Q29026180 | ||
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 | Q29303884 | ||
DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles | Q29391941 | ||
Circos: an information aesthetic for comparative genomics | Q29547653 | ||
Switching and signaling at the telomere | Q29615653 | ||
Oligomerization and phosphorylation dependent regulation of ArgBP2 adaptive capabilities and associated functions | Q30009491 | ||
Cell biological characterization of a multidomain adaptor protein, ArgBP2, in epithelial NMuMG cells, and identification of a novel short isoform. | Q30010154 | ||
ArgBP2 and the SoHo family of adapter proteins in oncogenic diseases | Q37406767 | ||
Transcriptional outcome of telomere signalling | Q38218964 | ||
Cohabitation of insulators and silencing elements in yeast subtelomeric regions | Q38325110 | ||
Wnt/β-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells. | Q38449008 | ||
Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy | Q38505065 | ||
Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei. | Q39745787 | ||
Epigenetics of a tandem DNA repeat: chromatin DNaseI sensitivity and opposite methylation changes in cancers | Q40011951 | ||
Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q | Q40632162 | ||
Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype | Q41536718 | ||
The biology of replicative senescence | Q41583618 | ||
An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies | Q42143520 | ||
Telomere position effect in human cells | Q43642023 | ||
Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy | Q50738350 | ||
Parallel protein and transcript profiles of FSHD patient muscles correlate to the D4Z4 arrangement and reveal a common impairment of slow to fast fibre differentiation and a general deregulation of MyoD-dependent genes | Q52573991 | ||
Telomeric position effect in drosophila melanogaster reflects a telomere length control mechanism | Q52605584 | ||
Shorter telomeres in dystrophic muscle consistent with extensive regeneration in young children | Q57268531 | ||
Evidence for silencing compartments within the yeast nucleus: a role for telomere proximity and Sir protein concentration in silencer-mediated repression | Q61783589 | ||
Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample. | Q64959554 | ||
Telomere positional effects and the regulation of cellular senescence | Q68007322 | ||
Facioscapulohumeral muscular dystrophy in the Dutch population | Q72213941 | ||
Telomeric transcriptional silencing in a natural context | Q73120477 | ||
Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers | Q87405047 | ||
A functional role for 4qA/B in the structural rearrangement of the 4q35 region and in the regulation of FRG1 and ANT1 in facioscapulohumeral dystrophy | Q33375719 | ||
The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy. | Q33413043 | ||
Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation | Q33483016 | ||
Replication timing of human telomeres is chromosome arm-specific, influenced by subtelomeric structures and connected to nuclear localization | Q33565365 | ||
Hi-C: a method to study the three-dimensional architecture of genomes | Q33575932 | ||
Telomere length regulates ISG15 expression in human cells | Q33588778 | ||
Telomeres: protecting chromosomes against genome instability | Q33740892 | ||
Expression profiling of FSHD-1 and FSHD-2 cells during myogenic differentiation evidences common and distinctive gene dysregulation patterns | Q33939411 | ||
Differences in telomere length between homologous chromosomes in humans | Q33941145 | ||
Gene expression during normal and FSHD myogenesis | Q34032716 | ||
DNA replication timing is maintained genome-wide in primary human myoblasts independent of D4Z4 contraction in FSH muscular dystrophy | Q34077893 | ||
Human telomeric position effect is determined by chromosomal context and telomeric chromatin integrity | Q34196118 | ||
DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy. | Q34243739 | ||
Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation. | Q34266381 | ||
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy | Q34266481 | ||
Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing | Q34515410 | ||
Telomere position effect: regulation of gene expression with progressive telomere shortening over long distances. | Q34518938 | ||
Telomere position effect and silencing of transgenes near telomeres in the mouse. | Q34519679 | ||
Human leukocyte telomere length is associated with DNA methylation levels in multiple subtelomeric and imprinted loci | Q35130394 | ||
Silencing is noisy: population and cell level noise in telomere-adjacent genes is dependent on telomere position and sir2. | Q35212268 | ||
Functional links between telomeres and proteins of the DNA-damage response | Q35853775 | ||
Atypical onset in a series of 122 cases with FacioScapuloHumeral Muscular Dystrophy | Q35859588 | ||
Transcription of a yeast telomere alleviates telomere position effect without affecting chromosome stability | Q35957243 | ||
Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD. | Q36100981 | ||
Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers. | Q36342987 | ||
Telomere length homeostasis and telomere position effect on a linear human artificial chromosome are dictated by the genetic background | Q36478000 | ||
Telomeres shorten at equivalent rates in somatic tissues of adults | Q36737331 | ||
Telomeric position effect: from the yeast paradigm to human pathologies? | Q36942225 | ||
How telomeres are replicated | Q36948200 | ||
Telomere position effect regulates DUX4 in human facioscapulohumeral muscular dystrophy | Q37013579 | ||
Acacetin and chrysin, two polyphenolic compounds, alleviate telomeric position effect in human cells. | Q37138708 | ||
DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy? | Q37295318 | ||
The shelterin protein POT-1 anchors Caenorhabditis elegans telomeres through SUN-1 at the nuclear periphery | Q37379029 | ||
P433 | issue | 12 | |
P304 | page(s) | 1781-1790 | |
P577 | publication date | 2015-09-10 | |
P1433 | published in | Genome Research | Q5533485 |
P1476 | title | SORBS2 transcription is activated by telomere position effect-over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophy | |
P478 | volume | 25 |
Q64251533 | Q64251533 |
Q92088925 | 4q-D4Z4 chromatin architecture regulates the transcription of muscle atrophic genes in facioscapulohumeral muscular dystrophy |
Q38976166 | Acute exercise activates p38 MAPK and increases the expression of telomere-protective genes in cardiac muscle. |
Q91968620 | Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy |
Q61800627 | Bring It to an End: Does Telomeres Size Matter? |
Q30385702 | Comparison of DNA Quantification Methods for Next Generation Sequencing. |
Q93065221 | FSHD1 and FSHD2 form a disease continuum |
Q52506936 | Facioscapulohumeral Muscular Dystrophy |
Q52412276 | Genomic origin and nuclear localization of TERRA telomeric repeat-containing RNA: from Darkness to Dawn |
Q64104141 | Histone Modifications and the Maintenance of Telomere Integrity |
Q49843050 | Insights about genome function from spatial organization of the genome. |
Q46249474 | Long-range telomere regulation of gene expression: Telomere looping and telomere position effect over long distances (TPE-OLD). |
Q92996663 | Mitochondrial function in skeletal myofibers is controlled by a TRF2-SIRT3 axis over lifetime |
Q48344669 | Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy. |
Q28071818 | Physiological and Pathological Aging Affects Chromatin Dynamics, Structure and Function at the Nuclear Edge |
Q38719137 | Protein interaction screening identifies SH3RF1 as a new regulator of FAT1 protein levels |
Q36224732 | Regulation of the Human Telomerase Gene TERT by Telomere Position Effect-Over Long Distances (TPE-OLD): Implications for Aging and Cancer |
Q36971261 | Role of Telomeres and Telomerase in Aging and Cancer |
Q36135207 | Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report |
Q64911093 | Telomerase and Telomeres in Endometrial Cancer. |
Q60054366 | Telomere length-dependent transcription and epigenetic modifications in promoters remote from telomere ends |
Q91559488 | Telomeres and telomerase: three decades of progress |
Q37706841 | Test anxiety and telomere length: Academic stress in adolescents may not cause rapid telomere erosion |
Q52651816 | The RNA binding protein SORBS2 suppresses metastatic colonization of ovarian cancer by stabilizing tumor-suppressive immunomodulatory transcripts. |
Q39432413 | The emerging role of alternative splicing in senescence and aging. |
Q55094954 | Tissue-specific activities of the Fat1 cadherin cooperate to control neuromuscular morphogenesis. |
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