Professor Neurology University of Washington
Neurology
Dr. Stephen J. Tapscott, MD
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Stephen J. Tapscott, MD practices Neurology. He went to medical school at Perelman School of Medicine at the University of Pennsylvania. Stephen J. Tapscott is also a published doctor. He has 100 publication published. The most recent publication is: Myogenic determination occurs independently in somites and limb buds.
Publications
- Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures 29-30 May 2015, Rochester, New York.
- Distinct Activities of Myf5 and MyoD Indicate Separate Roles in Skeletal Muscle Lineage Specification and Differentiation.
- Milder phenotype in facioscapulohumeral dystrophy with 7-10 residual D4Z4 repeats.
- Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.
- Conversion of MyoD to a Neurogenic Factor: Binding Site Specificity Determines Lineage.
- Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies.
- p53 suppresses muscle differentiation at the myogenin step in response to genotoxic stress.
- DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle.
- Elimination of contaminating cap genes in AAV vector virions reduces immune responses and improves transgene expression in a canine gene therapy model.
- Homology-mediated end-capping as a primary step of sister chromatid fusion in the breakage-fusion-bridge cycles.
- Discriminative motif analysis of high-throughput dataset.
- DUX4 Binding to Retroelements Creates Promoters That Are Active in FSHD Muscle and Testis.
- Fundamental differences in promoter CpG island DNA hypermethylation between human cancer and genetically engineered mouse models of cancer.
- Skeletal muscle programming and re-programming.
- MyoD is a tumor suppressor gene in Medulloblastoma.
- Clinical trial preparedness in facioscapulohumeral dystrophy: Outcome measures and patient access: 8-9 April 2013, Leiden, The Netherlands.
- Expanding donor muscle-derived cells for transplantation.
- Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation.
- Successful Regional Delivery and Long-term Expression of a Dystrophin Gene in Canine Muscular Dystrophy: A Preclinical Model for Human Therapies.
- Genetic and epigenetic determinants of neurogenesis and myogenesis.
- Genome-wide DNA methylation studies suggest distinct DNA methylation patterns in pediatric embryonal and alveolar rhabdomyosarcomas.
- DUX4 Activates Germline Genes, Retroelements, and Immune Mediators: Implications for Facioscapulohumeral Dystrophy.
- Analyzing cellular immunity to AAV in a canine model using ELISPOT assay.
- Stuck in a balancing act: Histone methyltransferase activity of KMT1A traps alveolar rhabdomyosarcomas in an undifferentiated state.
- Epigenetic regulation of the X-chromosomal macrosatellite repeat encoding for the cancer/testis gene CT47.
- Assessment of palindromes as platforms for DNA amplification in breast cancer.
- Polycomb-mediated repression during terminal differentiation: what don't you want to be when you grow up?
- Immunodetection of human double homeobox 4.
- MyoD directly up-regulates premyogenic mesoderm factors during induction of skeletal myogenesis in stem cells.
- Local gene delivery and methods to control immune responses in muscles of normal and dystrophic dogs.
- RNA-binding protein Muscleblind-like 3 (MBNL3) disrupts myocyte enhancer factor 2 (Mef2) {beta}-exon splicing.
- Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene.
- A unifying genetic model for facioscapulohumeral muscular dystrophy.
- Expression of human alpha1-antitrypsin in mice and dogs following AAV6 vector-mediated gene transfer to the lungs.
- Genome-wide MyoD binding in skeletal muscle cells: a potential for broad cellular reprogramming.
- Genome-wide analysis of palindrome formation.
- Immune responses to AAV in canine muscle monitored by cellular assays and noninvasive imaging.
- DNA methylation of developmental genes in pediatric medulloblastomas identified by denaturation analysis of methylation differences.
- Pbx acts with Hand2 in early myocardial differentiation.
- MyoD and E-protein heterodimers switch rhabdomyosarcoma cells from an arrested myoblast phase to a differentiated state.
- Gene therapy in large animal models of muscular dystrophy.
- An IACUC perspective on animal models of sleep-disordered breathing.
- CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination.
- Inhibition of mammalian muscle differentiation by regeneration blastema extract of Sternopygus macrurus.
- Hematopoietic cell transplantation provides an immune-tolerant platform for myoblast transplantation in dystrophic dogs.
- p38 MAPK signaling regulates recruitment of Ash2L-containing methyltransferase complexes to specific genes during differentiation.
- Essential role for Dicer during skeletal muscle development.
- Reciprocal inhibition between Pax7 and muscle regulatory factors modulates myogenic cell fate determination.
- Sustained AAV-mediated dystrophin expression in a canine model of Duchenne muscular dystrophy with a brief course of immunosuppression.
- Intrastrand annealing leads to the formation of a large DNA palindrome and determines the boundaries of genomic amplification in human cancer.
- Immunity to adeno-associated virus-mediated gene transfer in a random-bred canine model of Duchenne muscular dystrophy.
- MyoD inhibits Fstl1 and Utrn expression by inducing transcription of miR-206.
- The RNA helicases p68/p72 and the noncoding RNA SRA are coregulators of MyoD and skeletal muscle differentiation.
- Congenital hypothyroidism (cretinism) in neuroD2-deficient mice.
- Regulation of thalamocortical patterning and synaptic maturation by NeuroD2.
- Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF.
- The dosage of the neuroD2 transcription factor regulates amygdala development and emotional learning.
- XIC is required for Siamois activity and dorsoanterior development.
- MyoD targets chromatin remodeling complexes to the myogenin locus prior to forming a stable DNA-bound complex.
- Widespread and nonrandom distribution of DNA palindromes in cancer cells provides a structural platform for subsequent gene amplification.
- Hematopoietic stem cell transplantation does not restore dystrophin expression in Duchenne muscular dystrophy dogs.
- A MyoD-generated feed-forward circuit temporally patterns gene expression during skeletal muscle differentiation.
- In vitro transcription system delineates the distinct roles of the coactivators pCAF and p300 during MyoD/E47-dependent transactivation.
- Pbx marks genes for activation by MyoD indicating a role for a homeodomain protein in establishing myogenic potential.
- Loss of cell polarity causes severe brain dysplasia in Lgl1 knockout mice.
- Regulation of neuroD2 expression in mouse brain.
- BMP-2 mediates retinoid-induced apoptosis in medulloblastoma cells through a paracrine effect.
- Emerging parallels in the generation and regeneration of skeletal muscle.
- Selective instability: maternal effort and the evolution of gene activation and deactivation rates.
- Short inverted repeats initiate gene amplification through the formation of a large DNA palindrome in mammalian cells.
- Promoter-specific regulation of MyoD binding and signal transduction cooperate to pattern gene expression.
- Facioscapulohumeral dystrophy: the path to consensus on pathophysiology.
- Differential location of different types of intermediate-sized filaments in various tissues of the chicken embryo.
- Id: a negative regulator of helix-loop-helix DNA binding proteins. Control of terminal myogenic differentiation.
- MyoD and achaete-scute: 4-5 amino acids distinguishes myogenesis from neurogenesis.
- Functional conservation of nematode and vertebrate myogenic regulatory factors.
- The myoD gene family: nodal point during specification of the muscle cell lineage.
- NeuroD homologue expression during cortical development in the human brain.
- How to MEK muscle.
- Biomedicine. Reconstructing myotonic dystrophy.
- CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus.
- An efficient and robust statistical modeling approach to discover differentially expressed genes using genomic expression profiles.
- NeuroD2 is necessary for development and survival of central nervous system neurons.
- A basis for a visual language for describing, archiving and analyzing functional models of complex biological systems.
- Molecular distinction between specification and differentiation in the myogenic basic helix-loop-helix transcription factor family.
- Inhibition of Tcf3 binding by I-mfa domain proteins.
- Deconstructing myotonic dystrophy.
- A fragment of the Neurogenin1 gene confers regulated expression of a reporter gene in vitro and in vivo.
- Decreased expression of striatal signaling genes in a mouse model of Huntington''s disease.
- Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy.
- Generation of neurons by transient expression of neural bHLH proteins in mammalian cells.
- A conserved motif N-terminal to the DNA-binding domains of myogenic bHLH transcription factors mediates cooperative DNA binding with pbx-Meis1/Prep1.
- Myogenic determination occurs independently in somites and limb buds.
- Modeling stochastic gene expression: implications for haploinsufficiency.
- Apoptosis of epaxial myotome in Danforth's short-tail (Sd) mice in somites that form following notochord degeneration.
- Requirement of the mouse I-mfa gene for placental development and skeletal patterning.
- Fragile-X syndrome and myotonic dystrophy: parallels and paradoxes.
- Sibling rivalry, arrested development and chromosomal mayhem.
- Mitogen-activated protein kinase pathway is involved in the differentiation of muscle cells.
Schools
Perelman School of Medicine University of Pennsylvania
Doctors Specialties
- Neurology
Accepted Insurances
Education
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Perelman School of Medicine at the University of Pennsylvania
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