Title: | Facioscapulohumeral Muscular Dystrophy (FSHD) International Research Consortium 2008 |
Authors: | Facioscapulohumeral Muscular Dystrophy (FSHD) International Research Consortium 2008 (11 Novembre 2008; Philadelphie) ; Wagner K ; Perez DP |
Material Type: | Book |
Publisher: | AFM-TELETHON, 11/11/2009 |
Other publisher: | AIM |
Size: | 43 p. |
Languages: | English |
Subject : | 21100 (MNM-Dyst. muscul.progressives: FSHD,,,) |
Keywords : | angiogenesis ; candidate genes ; chromatin ; chromosome 10 ; chromosome 4 ; clinical variations ; cross-sectional study ; D4Z4 locus ; diagnosis ; drosophila ; DUX4 gene ; embryonic stem cell ; facioscapulohumeral muscular dystrophy ; FRG1 gene ; FRG2 gene ; gene overexpression ; gene regulation ; methylation ; mouse ; muscle mass ; muscle strength ; muscle wasting ; myogenesis ; patient registers ; phenotypes ; phenotypic heterogeneity ; physiopathology ; PITX gene ; skeletal muscle ; symposium ; telomeres ; toxicity ; transcription (genetics) |
Abstract: | PLATFORM PRESENTATIONS I : D4Z4 & DOWNSTREAM TRANSCRIPTS - DUX4 in Cells and Mice / Michael Kyba. - The Transcriptional and Post-transcriptional Landscape of the D4Z4 Region / Stephen Tapscott - Conditional Expression of PITX1 in Mouse Skeletal Muscles Causes Muscle Atrophy / Yi-Wen Chen - Transcription of the Region Proximal to D4Z4 could Regulate 4q35 Gene Expression in FSHD /Davide Gabellini - DUX4 Over-Expression Causes Muscle Toxicity In Vivo / Scott Q. Harper PLATFORM PRESENTATIONS II : CHROMATIN - CTCF as a New Regulator of D4Z4 Function / Frédérique Magdinier - Role of CTCF and Chromatin Structure in FSHD / Yvonne D. Meijer-Krom - Facioscapulohumeral Muscular Dystrophy: Gene Discovery by DNase-chip / Xueqing Xu - Comparative Methylation Analysis of the D4Z4 Repeat Array on Chromosome 4q35 and 10q26 / Silvère M. van der Maarel PLATFORM PRESENTATIONS III : FSHD CENTERS UPDATES - Biomarkers for Therapy of FSHD / Louis M. Kunkel - Fields Center for FSHD and Neuromuscular Research / Rabi Tawil - Italian FSHD National Registry: a Tool for Genotype-Phenotype Correlation / Rossella Tupler PLATFORM PRESENTATIONS IV : CLINICAL & EXPRESSION STUDIES - Direct and Simultaneous Visualization of D4Z4 Arrays on Distinct 4qA, 4qB and 10q Combed Alleles: Implication for FSHD Diagnosis and Physiopathology / Nicolas Lévy - Trying to Understand the Clinical Variability in FSHD / Patricia Arashiro, Ph.D. - Guanine Quadruplexes, non-B DNA Structures, in D4Z4: Potential for Interactions / Melanie Ehrlich - Size and Number of D4Z4 Alleles Play a Role in FSHD Phenotype / Greta Fabbri - Treatment with a Soluble Activin Receptor Type IIB Increases Muscle Mass and Strength in Wild-type Mice and Common Marmosets / Laura Hagerty PLATFORM PRESENTATIONS V : FRG1 & CRYM - Structural and Functional Characterization of Muscle Fibres in the Novel Mouse Model of Facioscapulohumeral Muscular Dystrophy / Valentina Sancisi - Muscular Dystrophy Candidate Gene FRG1 Functions in Angiogenesis and Muscle Development / Ryan D. Wuebbles - A Drosophila Model for the Effects of Increased FRG1 Expression / William Mattox - Mu-Crystallin and the Pathogenesis of FSHD / Patrick Wayne Reed POWERPOINT PRESENTATION OF POSTERS - About the Facioscapulolimb, Type 2 (or the Facioscapuloperoneal) Autosomal Dominant Muscular Dystrophy in the K. Kindred Once Again - Possible Mechanims Responsible for great Inter and Intra Familial Phenotypic Heterogeneity in FSHD / Nina Canki-Klain, M.D., Ph.D. - Investigating D4Z4 Mediated Gene Regulatory and Epigenetic Effects on FRG1 in a Telomeric Environment in the Developing Vertebrate Xenopus Laevis / Meredith L. Hanel - Comprehensive Expression Analysis of FSHD Candidate Genes Provides Evidence for Transcriptional Deregulation of FRG2 Only / Silvère M. van der Maarel - FRG1 Over-expression Induces Severe Dystrophic Phenotype in the Adult Mouse / Julie Dumonceaux - Mutagenesis Analysis of the DUX4 Nuclear Localization Signals NLS1 and NLS2 / Alberto Luis Rosa - Pluripotent Stem Cells for FSHD Research Plus d’infos sur le séminaire : |
Lien associé : | http://www.fshsociety.org/pages/sciConsortium.html |
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FSHD_ASHG_IRC2008_Philadelphia_11Nov_ProgramAndAbs Adobe Acrobat PDF |