| Titre : |
Facioscapulohumeral Muscular Dystrophy (FSHD) International Research Consortium 2008 |
| Type de document : |
Livre |
| Auteurs : |
Wagner K ; Perez DP |
| Congrès : |
Facioscapulohumeral Muscular Dystrophy (FSHD) International Research Consortium 2008 (11 Novembre 2008; Philadelphie) |
| Editeur : |
AFM-TELETHON |
| Année de publication : |
11 Novembre 2009 |
| Autre Editeur : |
AIM |
| Pages : |
43 p. |
| Langues : |
Anglais (eng) |
| Mots-clés : | angiogenèse ; atrophie musculaire ; cellule souche embryonnaire ; chromatine ; chromosome 10 ; chromosome 4 ; colloque ; diagnostic ; drosophile ; dystrophie musculaire facio-scapulo-humérale ; étude transversale ; force musculaire ; gène candidat ; gène DUX4 ; gène FRG1 ; gène FRG2 ; gène PITX ; hétérogénéité phénotypique ; masse musculaire ; méthylation ; muscle squelettique ; myogenèse ; phénotype ; physiopathologie ; région D4Z4 ; registre de malades ; régulation génique ; souris ; surexpression génique ; télomère ; toxicité ; transcription (génétique) ; variabilité clinique
|
| Thème : | 21100 MNM-Dyst. muscul.progressives: FSHD,,, |
| Résumé : | 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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