Smchd1 regulates a subset of autosomal genes subject to monoallelic expression in addition to being critical for X inactivation
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Facioscapulohumeral dystrophy: the path to consensus on pathophysiologyDe novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.Epigenetic characterization of the growth hormone gene identifies SmcHD1 as a regulator of autosomal gene clusters.DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscleSMCHD1 accumulates at DNA damage sites and facilitates the repair of DNA double-strand breaksLandscape of DNA methylation on the X chromosome reflects CpG density, functional chromatin state and X-chromosome inactivationIndividual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy.Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and diseaseGenome-wide binding and mechanistic analyses of Smchd1-mediated epigenetic regulationWhy weight? Modelling sample and observational level variability improves power in RNA-seq analyses.Impact of flanking chromosomal sequences on localization and silencing by the human non-coding RNA XIST.Independent Mechanisms Target SMCHD1 to Trimethylated Histone H3 Lysine 9-Modified Chromatin and the Inactive X Chromosome.Genetic and epigenetic contributors to FSHD.Transcriptional profiling of the epigenetic regulator Smchd1.Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.Recurrent major depression and right hippocampal volume: A bivariate linkage and association study.Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy.Evolution of vertebrate sex chromosomes and dosage compensation.Dosage compensation of the sex chromosomes and autosomes.Sexually Dimorphic Gene Expression in Bovine Conceptuses at the Initiation of Implantation.SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes.DNA Methylation Divergence and Tissue Specialization in the Developing Mouse Placenta.Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.Autosomal genetic variation is associated with DNA methylation in regions variably escaping X-chromosome inactivation
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Smchd1 regulates a subset of autosomal genes subject to monoallelic expression in addition to being critical for X inactivation
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 02 July 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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Smchd1 regulates a subset of a ...... ng critical for X inactivation
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Smchd1 regulates a subset of a ...... g critical for X inactivation.
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Smchd1 regulates a subset of a ...... ng critical for X inactivation
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Smchd1 regulates a subset of a ...... g critical for X inactivation.
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Smchd1 regulates a subset of a ...... ng critical for X inactivation
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Smchd1 regulates a subset of a ...... g critical for X inactivation.
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Smchd1 regulates a subset of a ...... ng critical for X inactivation
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Annica Seidel
Dianne Carrie
Graham F Kay
Ian D Tonks
Jonathan J Ellis
Marnie E Blewitt
Miha Pakusch
Pamela Mukhopadhyay
Zhenyi Pang
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P2888
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10.1186/1756-8935-6-19
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2013-07-02T00:00:00Z
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1048057288