Molekulare Grundlagen der normalen und pathologischen Positionierung der Zellkerne in Muskelfasern
Zusammenfassung der Projektergebnisse
Both projects described in the application (identification of new CNM genes and in vivo imaging of muscle fibers) were executed with success. I could idenfify novel BINI mutations associated with autosomal recessive centronuclear myopathy and I am currently investigating the functional impact of those mutations. I furthermore discovered and characterized the first mutation in canine X-linked CNM and these results will lead to preclinical trials using AAV on dogs in the near future. Owing to the rapid progression of novel sequencing techniques, we decided to adapt the project "Identification of new CNM genes" and to focus on high-throughput sequencing. The IGBMC sequencing platform purchased an lllumina GAIIx sequencer and our team was the first in the institute to propose and launch a new project using the novel technology. After an extensive establishment of the technical protocol and the bioinformatical analysis, we accomplished a successful test run and the preliminary data on whole-exome sequencing are highly promising. The in vivo imaging project faced major and unexpected technical obstacles, in particular movement artefacts, imaging speed and imaging depth. The tight cooperation wilh the IGBMC imaging platform helped to seize these challenges and to propose satisfactory approaches and solutions.
Projektbezogene Publikationen (Auswahl)
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In vivo imaging of muscle fibers under normal and pathological conditions. 14th International WMS Congress, Geneva, Switzerland September 9-12, 2009
Böhm J, Koch M, Lutz Y, Hentsch D, Vonesch JL, Mandel JL, Laporte J
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A missense variant in the MTM1 gene is associated with X-linked myotubular myopathy in Labrador retrievers. 21st Annual Meeting of the German Society of Human Genetics, Hamburg, Germany March 2-4, 2010
Böhm J, Beggs AH, Snead E, Kozlowski M, Maurer M, Minor K, Childers MK, Taylor SM, Hille C, Mickelson JR, Guo LT, Mizisin AP, Buj-Bello A, Tiret L, Laporte J, Shelton GD
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A missense variant in the MTM1 gene is associated with X-linked myotubular myopathy in Labrador retrievers. Journees Campus Illkirch, Illkirch, France May 3-4, 2010
Böhm J, Beggs AH, Snead E, Kozlowski M, Maurer M, Minor K, Childers MK, Taylor SM, Hitte C, Mickelson JR, Guo LT, Mizisin AP, Buj-Bello A, Tiret L, Laporte J, Shelton GD
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A missense variant in the MTM1 gene is associated with X-linked myotubular myopathy in Labrador retrievers. Proc Nati Acad Sci USA. 2010 Aug 17;107(33): 14697-702
Böhm J, Beggs AH, Snead E, Kozlowski M, Maurer M, Minor K, Childers MK, Taylor SM, Hille C, Mickelson JR, Guo LT, Mizisin AP, Buj-Bello A, Tiret L, Laporte J, Shelton GD
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Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset. Neuromuscul Disord. 2010 Jan;20(1):53-6
Meiberg A, Kretz C, Kalimo H, Wallgren-Pettersson C, Tousaint A, Böhm J. Stalberg E, Laporte J
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Amphiphysin 2 (BIN 1) mutations in autosomal recessive centronuclear myopathy. 21st Annual Meeting of the German Society of Human Genetics, Hamburg, Germany March 2-4, 2010
Böhm J, Toussaint A, Tosch V, Yiş U, Claeys K, Stojkovic T, Olfors A, Nicot AS, Maisonobe T, Mandel JL, Laporte J
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Centronuclear myopathies. National Institutes of Health, Bethesda, USA November 10th, 2010
Böhm J.
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Intrafamiliar variability in autosomal recessive centronuclear myopathy with a BINI premature stop mutation. Orphanet J Rare Dis. 2010 Dec 3;5:35
Böhm J, Yis U, Ortac R, Cakmakci H, Kurul SH, Dirik E, Laporte J
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Molecular identification of a canine model for X-linked centronuclear myopathy 2 (BINI). 60th Annual Meeting of the American Society of Human Genetics, Washington D.C, USA November 2-6, 2010
Böhm J, Beggs AH, Snead E, Kozlowski M, Maurer M, Minor K, Childers MK, Taylor SM, Hitte C, Mickelson JR, Guo LT, Mizisin AP, Buj-Bello A, Tiret L, Laporte J, Shelton GD
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Phenotype of a patient with recessive centronuclear myopathy and a novel BINI mutation. Neurology. 2010 Feb 9;74(6):519-21
Claeys KG, Maisonobe T, Böhm J, Laporte J, Hezode M, Romero NB, Brochier G, Bitoun M, Cariier RY, Stojkovic T
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Search for mutations in the DMXL1 gene on chromosome 5 associated to a Prader-Willi like phenotype. 60th Annual Meeting of the American Society of Human Genetics, Washington D.C, USA November 2-6, 2010
Mandel JL, Seifert C, Gasnier C, Haumesser N, Böhm J, Laporte J, Muller J, Calmels N
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Sequence capture and high-throughput sequencing for the identification of novel genes in centronuclear myopathies. 5emes Assises de Genetiques Humaine et Medicale, Strasbourg, France January 28-30, 2010
Vasli N, Böhm J, Plewniak F, Haumesser N, Jost B, Biancalana V, Mandel JL, Laporte J
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Vici Syndrome - an additional case associated with Sensorineural Hearing Loss and evidence of Neuromuscular Involvement on Muscle Biopsy. Am J Med Genet., 2010 Mar;152A(3):741-7
McClelland V, Bodi I, Ruddy D, Buj-Bello A, Biancalana V, Böhm J, Bitoun M, Miller O, Jan W, Menson E, Amaya L, Trounce J, Laporte J, Mohammed S, Sewry C, Raiman J, Jungbluth H
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Centronuclear myopathy: 38 novel DNM2 mutations reveal hotspots and a genotype/phenotype correlation. Annual Meeting of the European Society of Human Genetics, Amsterdam, Netherlands May 28-31,2011
Böhm J, Schaefer E, Taylor de Chene E, Karasoy H, Dondaine N, Kretz C, Haumesser N, Poirson C, Toussaint A, Nicot AS, Zanoleli E, Wallgren-Pettersson C, Echaniz- Laguna A, Ousager LB, Krause A, Jern C, Merlini L, Oliveira ASB, Biancalana V, Mandel JL, Beggs A, Pierson CR, Laporte J
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When nuclei get mad. Institut für Humangenetik, Freiburg, Allemagne January 19th, 2011
Böhm J.
