Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Justine, Guguin"'
Autor:
Ming Wen, Romain Feron, Qiaowei Pan, Justine Guguin, Elodie Jouanno, Amaury Herpin, Christophe Klopp, Cedric Cabau, Margot Zahm, Hugues Parrinello, Laurent Journot, Shawn M. Burgess, Yoshihiro Omori, John H. Postlethwait, Manfred Schartl, Yann Guiguen
Publikováno v:
BMC Genomics, Vol 21, Iss 1, Pp 1-12 (2020)
Abstract Background Goldfish is an important model for various areas of research, including neural development and behavior and a species of significant importance in aquaculture, especially as an ornamental species. It has a male heterogametic (XX/X
Externí odkaz:
https://doaj.org/article/c4b58891be7049d5b14e824751784ef5
Autor:
Clara Benoit-Pilven, Alicia Besson, Audrey Putoux, Claire Benetollo, Clément Saccaro, Justine Guguin, Gabriel Sala, Audric Cologne, Marion Delous, Gaetan Lesca, Richard A Padgett, Anne-Louise Leutenegger, Vincent Lacroix, Patrick Edery, Sylvie Mazoyer
Publikováno v:
PLoS ONE, Vol 15, Iss 7, p e0235655 (2020)
Biallelic variants in RNU4ATAC, a non-coding gene transcribed into the minor spliceosome component U4atac snRNA, are responsible for three rare recessive developmental diseases, namely Taybi-Linder/MOPD1, Roifman and Lowry-Wood syndromes. Next-genera
Externí odkaz:
https://doaj.org/article/c65c22bed0df489ab421b2e558d11852
Autor:
Audrey Bourdon, Virginie François, Liwen Zhang, Aude Lafoux, Bodvael Fraysse, Gilles Toumaniantz, Thibaut Larcher, Tiphaine Girard, Mireille Ledevin, Cyrielle Lebreton, Agnès Hivonnait, Anna Creismeas, Marine Allais, Basile Marie, Justine Guguin, Véronique Blouin, Séverine Remy, Ignacio Anegon, Corinne Huchet, Alberto Malerba, Betty Kao, Anita Le Heron, Philippe Moullier, George Dickson, Linda Popplewell, Oumeya Adjali, Federica Montanaro, Caroline Le Guiner
Publikováno v:
Gene Therapy. 29:520-535
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3d9c1614fc49440d97af2761d82421d2
https://doi.org/10.1038/s41434-022-00317-6
https://doi.org/10.1038/s41434-022-00317-6
Autor:
Deepak Khatri, Audrey Putoux, Audric Cologne, Sophie Kaltenbach, Alicia Besson, Eloïse Bertiaux, Justine Guguin, Adèle Fendler, Marie A. Dupont, Clara Benoit-Pilven, Leila Qebibo, Samira Ahmed-Elie, Séverine Audebert-Bellanger, Pierre Blanc, Thomas Rambaud, Martin Castelle, Gaëlle Cornen, Sarah Grotto, Agnès Guët, Laurent Guibaud, Caroline Michot, Sylvie Odent, Lyse Ruaud, Elise Sacaze, Virginie Hamel, Rémy Bordonné, Anne-Louise Leutenegger, Patrick Edery, Lydie Burglen, Tania Attié-Bitach, Sylvie Mazoyer, Marion Delous
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, 2023, 120 (9), pp.e2102569120. ⟨10.1073/pnas.2102569120⟩
Proceedings of the National Academy of Sciences of the United States of America, 2023, 120 (9), pp.e2102569120. ⟨10.1073/pnas.2102569120⟩
In the human genome, about 750 genes contain one intron excised by the minor spliceosome. This spliceosome comprises its own set of snRNAs, among which U4atac. Its noncoding gene, RNU4ATAC , has been found mutated in Taybi-Linder (TALS/microcephalic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff8ec8d20ada31707836e9ec93fa4cca
https://univ-rennes.hal.science/hal-04021151
https://univ-rennes.hal.science/hal-04021151
Autor:
Deepak Khatri, Audrey Putoux, Audric Cologne, Sophie Kaltenbach, Alicia Besson, Eloïse Bertiaux, Justine Guguin, Adèle Fendler, Marie A. Dupont, Clara Benoit-Pilven, Sarah Grotto, Lyse Ruaud, Caroline Michot, Martin Castelle, Agnès Guët, Laurent Guibaud, Virginie Hamel, Rémy Bordonné, Anne-Louise Leutenegger, Tania Attié-Bitach, Patrick Edery, Sylvie Mazoyer, Marion Delous
In the human genome, about 750 genes contain one intron excised by the minor spliceosome. This spliceosome comprises its own set of snRNAs, among which U4atac. Its non-coding gene,RNU4ATAC, has been found mutated in Taybi-Linder (MOPD1/TALS), Roifman
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d73912952aca0e6d7322911d9b0fce9c
https://doi.org/10.1101/2021.12.12.21266616
https://doi.org/10.1101/2021.12.12.21266616
Autor:
Audrey, Bourdon, Virginie, François, Liwen, Zhang, Aude, Lafoux, Bodvael, Fraysse, Gilles, Toumaniantz, Thibaut, Larcher, Tiphaine, Girard, Mireille, Ledevin, Cyrielle, Lebreton, Agnès, Hivonnait, Anna, Creismeas, Marine, Allais, Basile, Marie, Justine, Guguin, Véronique, Blouin, Séverine, Remy, Ignacio, Anegon, Corinne, Huchet, Alberto, Malerba, Betty, Kao, Anita, Le Heron, Philippe, Moullier, George, Dickson, Linda, Popplewell, Oumeya, Adjali, Federica, Montanaro, Caroline, Le Guiner
Publikováno v:
Gene therapy. 29(9)
Duchenne muscular dystrophy (DMD) is a muscle wasting disorder caused by mutations in the gene encoding dystrophin. Gene therapy using micro-dystrophin (MD) transgenes and recombinant adeno-associated virus (rAAV) vectors hold great promise. To overc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::932d0ee578a32dab628daaac46e8bb2b
https://pubmed.ncbi.nlm.nih.gov/35449294
https://pubmed.ncbi.nlm.nih.gov/35449294
Autor:
Claire Benetollo, Gabriel Sala, Sylvie Mazoyer, Anne-Louise Leutenegger, Alicia Besson, Justine Guguin, Clément Saccaro, Marion Delous, Gaetan Lesca, Vincent Lacroix, Clara Benoit-Pilven, Audrey Putoux, Patrick Edery, Richard A. Padgett, Audric Cologne
Publikováno v:
PLoS ONE
PLoS ONE, 2020, 15 (7), pp.e0235655. ⟨10.1371/journal.pone.0235655⟩
PLoS ONE, Public Library of Science, 2020, 15 (7), pp.e0235655. ⟨10.1371/journal.pone.0235655⟩
PLoS ONE, Vol 15, Iss 7, p e0235655 (2020)
PLoS ONE, 2020, 15 (7), pp.e0235655. ⟨10.1371/journal.pone.0235655⟩
PLoS ONE, Public Library of Science, 2020, 15 (7), pp.e0235655. ⟨10.1371/journal.pone.0235655⟩
PLoS ONE, Vol 15, Iss 7, p e0235655 (2020)
International audience; Biallelic variants in RNU4ATAC, a non-coding gene transcribed into the minor spliceosome component U4atac snRNA, are responsible for three rare recessive developmental diseases, namely Taybi-Linder/MOPD1, Roifman and Lowry-Woo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdfd207a43e278f43fc3f603b4e4fff6
https://pubmed.ncbi.nlm.nih.gov/32628740
https://pubmed.ncbi.nlm.nih.gov/32628740
Autor:
Hugues Parrinello, Amaury Herpin, Margot Zahm, Romain Feron, Manfred Schartl, Ming Wen, Shawn M. Burgess, Elodie Jouanno, Qiaowei Pan, Yann Guiguen, Laurent Journot, Christophe Klopp, Justine Guguin, Cédric Cabau, John H. Postlethwait, Yoshihiro Omori
Publikováno v:
Sex chromosome and sex locus characterization in the goldfish, Carassius auratus, BioRxiv(2019)
BackgroundGoldfish is an important model for various areas of research, including neural development and behavior and a species of significant importance in aquaculture, especially as an ornamental species. It has a male heterogametic (XX/XY) sex det
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6cd86329e68d732ab2aa5094631b6a2
Publikováno v:
médecine/sciences. 34:396-399
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::786ed786a34a4e2972cf16e7c6351a2b
https://doi.org/10.1051/medsci/20183405008
https://doi.org/10.1051/medsci/20183405008
Publikováno v:
Medecine sciences : M/S. 34(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2755d4443892653ce0c995bf607f8286
https://pubmed.ncbi.nlm.nih.gov/29900838
https://pubmed.ncbi.nlm.nih.gov/29900838