d4z4

نتایج جستجو برای: d4z4

تعداد نتایج: 154 فیلتر نتایج به سال:

Methylation of subtelomeric repeat D4Z4 in peripheral blood leukocytes is associated with biochemical recurrence in localized prostate cancer patients

Journal: :Carcinogenesis 2017

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CRISPR/dCas9-mediated Transcriptional Inhibition Ameliorates the Epigenetic Dysregulation at D4Z4 and Represses DUX4-fl in FSH Muscular Dystrophy

Journal: :Molecular Therapy 2016

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

Journal: :Orphanet Journal of Rare Diseases 2015

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RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy

Journal: :Human Molecular Genetics 2009

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Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2

Journal: :European Journal of Human Genetics 2015

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P.16.6 Modification of 4q35 and muscular gene expression in fetuses carrying a shortened D4Z4 array linked to FSHD

Journal: :Neuromuscular Disorders 2013

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DNA Replication Timing Is Maintained Genome-Wide in Primary Human Myoblasts Independent of D4Z4 Contraction in FSH Muscular Dystrophy

Journal: :PLoS ONE 2011

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

Journal: :Human Molecular Genetics 2013

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Correction: DNA Replication Timing Is Maintained Genome-Wide in Primary Human Myoblasts Independent of D4Z4 Contraction in FSH Muscular Dystrophy

Journal: :PLoS ONE 2012

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Immunohistochemical Characterization of FacioscapulohumeralMuscular Dystrophy Muscle Biopsies

2015

Jeffrey M. Statland Karen J. Odrzywolski Bharati Shah Don Henderson Alex F. Fricke Silvére M. van der Maarel Stephen J. Tapscott Rabi Tawil

BACKGROUND Posited pathological mechanisms in Facioscapulohumeral Muscular Dystrophy (FSHD) include activation in somatic tissue of normally silenced genes, increased susceptibility to oxidative stress, and induction of apoptosis. OBJECTIVE To determine the histopathological changes in FSHD muscle biopsies and compare to possible pathological mechanisms of disease. METHODS We performed a cr...

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