Search Results - "Miller, Daniel G."
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Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy
Published in Science (American Association for the Advancement of Science) (24-09-2010)“…Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy in adults that is foremost characterized by progressive wasting of muscles…”
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GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome
Published in American journal of human genetics (03-01-2019)“…Baratela-Scott syndrome (BSS) is a rare, autosomal-recessive disorder characterized by short stature, facial dysmorphisms, developmental delay, and skeletal…”
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AAV Vector Integration Sites in Mouse Hepatocellular Carcinoma
Published in Science (American Association for the Advancement of Science) (27-07-2007)“…Adeno-associated viruses (AAV) are promising gene therapy vectors that have little or no acute toxicity. We show that normal mice and mice with…”
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Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene
Published in PLoS genetics (28-10-2010)“…Each unit of the D4Z4 macrosatellite repeat contains a retrotransposed gene encoding the DUX4 double-homeobox transcription factor. Facioscapulohumeral…”
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Sporadic DUX4 expression in FSHD myocytes is associated with incomplete repression by the PRC2 complex and gain of H3K9 acetylation on the contracted D4Z4 allele
Published in Epigenetics & chromatin (20-08-2018)“…Facioscapulohumeral muscular dystrophy 1 (FSHD1) has an autosomal dominant pattern of inheritance and primarily affects skeletal muscle. The genetic cause of…”
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A Human Pluripotent Stem Cell Model of Facioscapulohumeral Muscular Dystrophy-Affected Skeletal Muscles
Published in Stem cells translational medicine (01-09-2016)“…: Facioscapulohumeral muscular dystrophy (FSHD) represents a major unmet clinical need arising from the progressive weakness and atrophy of skeletal muscles…”
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RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy
Published in Human molecular genetics (01-07-2009)“…Deletion of a subset of the D4Z4 macrosatellite repeats in the subtelomeric region of chromosome 4q causes facioscapulohumeral muscular dystrophy (FSHD) when…”
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Characterization of microRNAs involved in embryonic stem cell states
Published in Stem cells and development (01-07-2010)“…Studies of embryonic stem cells (ESCs) reveal that these cell lines can be derived from differing stages of embryonic development. We analyzed common changes…”
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Facemasks: Perceptions and use in an ED population during COVID-19
Published in PloS one (13-04-2022)“…Facemask use is associated with reduced transmission of SARS-CoV-2. Most surveys assessing perceptions and practices of mask use miss the most vulnerable…”
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Adeno-associated virus vectors integrate at chromosome breakage sites
Published in Nature genetics (01-07-2004)“…Adeno-associated virus (AAV) vectors transduce cells by multiple pathways, including integration at nonhomologous chromosomal locations by an unknown…”
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Epigenetic memory via concordant DNA methylation is inversely correlated to developmental potential of mammalian cells
Published in PLoS genetics (06-11-2017)“…In storing and transmitting epigenetic information, organisms must balance the need to maintain information about past conditions with the capacity to respond…”
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Foamy Virus Vector Integration Sites in Normal Human Cells
Published in Proceedings of the National Academy of Sciences - PNAS (31-01-2006)“…Foamy viruses (FVs) or spumaviruses are retroviruses that have been developed as vectors, but their integration patterns have not been described. We have…”
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Expression patterns of FSHD-causing DUX4 and myogenic transcription factors PAX3 and PAX7 are spatially distinct in differentiating human stem cell cultures
Published in Skeletal muscle (21-06-2017)“…Facioscapulohumeral muscular dystrophy (FSHD) is most commonly inherited in an autosomal dominant pattern and caused by the abnormal expression of DUX4 in…”
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Comparison of HIV-derived Lentiviral and MLV-based Gammaretroviral Vector Integration Sites in Primate Repopulating Cells
Published in Molecular therapy (01-07-2007)“…The potential for leukemia caused by retroviral vector integration has become a significant concern for hematopoietic stem cell gene therapy. We analyzed the…”
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Large-Scale Analysis of Adeno-Associated Virus Vector Integration Sites in Normal Human Cells
Published in Journal of Virology (01-09-2005)“…Article Usage Stats Services JVI Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Endogenous DUX4 expression in FSHD myotubes is sufficient to cause cell death and disrupts RNA splicing and cell migration pathways
Published in Human molecular genetics (15-10-2015)“…Facioscapulohumeral muscular dystrophy (FSHD) is caused by chromatin relaxation that results in aberrant expression of the transcription factor Double Homeobox…”
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Reduced Computed Tomography Use in the Emergency Department Evaluation of Headache Was Not Followed by Increased Death or Missed Diagnosis
Published in The western journal of emergency medicine (01-03-2018)“…This study investigated whether a 9.6% decrease in the use of head computed tomography (HCT) for patients presenting to the emergency department (ED) with a…”
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Scurvy: Malnourishment in the Land of Plenty
Published in The Journal of emergency medicine (01-04-2014)Get full text
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Can Simulation Measure Differences in Task-Switching Ability Between Junior and Senior Emergency Medicine Residents?
Published in The western journal of emergency medicine (01-03-2016)“…Work interruptions during patient care have been correlated with error. Task-switching is identified by the Accreditation Council for Graduate Medical…”
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Asymmetric bidirectional transcription from the FSHD-causing D4Z4 array modulates DUX4 production
Published in PloS one (20-04-2012)“…Facioscapulohumeral Disease (FSHD) is a dominantly inherited progressive myopathy associated with aberrant production of the transcription factor, Double…”
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