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Your search keyword '"Laforet, Pascal"' showing total 6 results
Start Over Author "Laforet, Pascal" Journal journal of neuromuscular diseases
6 results on '"Laforet, Pascal"'

2. Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations

Author

Vázquez, José, primary, Lefeuvre, Claire, additional, Escobar, Rosa Elena, additional, Luna Angulo, Alexandra Berenice, additional, Miranda Duarte, Antonio, additional, Delia Hernandez, Alma, additional, Brisset, Marion, additional, Carlier, Robert-Yves, additional, Leturcq, France, additional, Durand-Canard, Marie-Christine, additional, Nicolas, Guillaume, additional, Laforet, Pascal, additional, and Malfatti, Edoardo, additional

Published
2020
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3. Echographic Assessment of Diaphragmatic Function in Duchenne Muscular Dystrophy from Childhood to Adulthood

Author

Fayssoil, Abdallah, primary, Chaffaut, Cendrine, additional, Ogna, Adam, additional, Stojkovic, Tanya, additional, Lamothe, Laure, additional, Mompoint, Dominique, additional, Meng, Paris, additional, Prigent, Helene, additional, Clair, Bernard, additional, Behin, Anthony, additional, Laforet, Pascal, additional, Bassez, Guillaume, additional, Carlier, Robert, additional, Orlikowski, David, additional, Amthor, Helge, additional, Quijano Roy, Susana, additional, Crenn, Pascal, additional, Chevret, Sylvie, additional, Eymard, Bruno, additional, Lofaso, Frederic, additional, and Annane, Djillali, additional

Published
2019
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4. Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders

Author

Fayssoil, Abdallah, primary, Behin, Anthony, additional, Ogna, Adam, additional, Mompoint, Dominique, additional, Amthor, Helge, additional, Clair, Bernard, additional, Laforet, Pascal, additional, Mansart, Arnaud, additional, Prigent, Helene, additional, Orlikowski, David, additional, Stojkovic, Tanya, additional, Vinit, Stéphane, additional, Carlier, Robert, additional, Eymard, Bruno, additional, Lofaso, Frederic, additional, and Annane, Djillali, additional

Published
2018
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5. Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms

Author

Marey, Isabelle, primary, Ben Yaou, Rabah, additional, Deburgrave, Nathalie, additional, Vasson, Aurélie, additional, Nectoux, Juliette, additional, Leturcq, France, additional, Eymard, Bruno, additional, Laforet, Pascal, additional, Behin, Anthony, additional, Stojkovic, Tanya, additional, Mayer, Michèle, additional, Tiffreau, Vincent, additional, Desguerre, Isabelle, additional, Boyer, François Constant, additional, Nadaj-Pakleza, Aleksandra, additional, Ferrer, Xavier, additional, Wahbi, Karim, additional, Becane, Henri-Marc, additional, Claustres, Mireille, additional, Chelly, Jamel, additional, and Cossee, Mireille, additional

Published
2016
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6. Non Random Distribution of DMDDeletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms

Author

Marey, Isabelle, Ben Yaou, Rabah, Deburgrave, Nathalie, Vasson, Aurélie, Nectoux, Juliette, Leturcq, France, Eymard, Bruno, Laforet, Pascal, Behin, Anthony, Stojkovic, Tanya, Mayer, Michèle, Tiffreau, Vincent, Desguerre, Isabelle, Boyer, François Constant, Nadaj-Pakleza, Aleksandra, Ferrer, Xavier, Wahbi, Karim, Becane, Henri-Marc, Claustres, Mireille, Chelly, Jamel, and Cossee, Mireille

Abstract

Background:Dystrophinopathies are mostly caused by copy number variations, especially deletions, in the dystrophin gene (DMD). Despite the large size of the gene, deletions do not occur randomly but mainly in two hot spots, the main one involving exons 45 to 55. The underlying mechanisms are complex and implicate two main mechanisms: Non-homologous end joining (NHEJ) and micro-homology mediated replication-dependent recombination (MMRDR). Objective:Our goals were to assess the distribution of intronic breakpoints (BPs) in the genomic sequence of the main hot spot of deletions within DMDgene and to search for specific sequences at or near to BPs that might promote BP occurrence or be associated with DNA break repair. Methods:Using comparative genomic hybridization microarray, 57 deletions within the intron 44 to 55 region were mapped. Moreover, 21 junction fragments were sequenced to search for specific sequences. Results:Non-randomly distributed BPs were found in introns 44, 47, 48, 49 and 53 and 50% of BPs clustered within genomic regions of less than 700bp. Repeated elements (REs), known to promote gene rearrangement via several mechanisms, were present in the vicinity of 90% of clustered BPs and less frequently (72%) close to scattered BPs, illustrating the important role of such elements in the occurrence of DMDdeletions. Palindromic and TTTAAA sequences, which also promote DNA instability, were identified at fragment junctions in 20% and 5% of cases, respectively. Micro-homologies (76%) and insertions or deletions of small sequences were frequently found at BP junctions. Conclusions:Our results illustrate, in a large series of patients, the important role of RE and other genomic features in DNA breaks, and the involvement of different mechanisms in DMDgene deletions: Mainly replication error repair mechanisms, but also NHEJ and potentially aberrant firing of replication origins. A combination of these mechanisms may also be possible.

Published
2016
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