Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Jean-Marc Danse"'
Autor:
Edward G. Rowan, Cleane C.L. de Medeiros, Alan L. Harvey, Suzanne Pinkasfeld, Alain Lecoq, Sylvaine Gasparini, Louise C. Young, André Ménez, Jean-Marc Danse, Sophie Zinn-Justin
Publikováno v:
Journal of Biological Chemistry. 273:25393-25403
We identified the residues that are important for the binding of α-dendrotoxin (αDTX) to Kv1 potassium channels on rat brain synaptosomal membranes, using a mutational approach based on site-directed mutagenesis and chemical synthesis. Twenty-six o
Autor:
P. Bourgeois, Fabienne Perrin-Schmitt, Corinne Stoetzel, Anne-Laure Bolcato-Bellemin, Kunihiko Yoshiba, Jean-Marc Danse, Agnès Bloch-Zupan
Publikováno v:
Human Molecular Genetics. 7:945-957
Most targeted gene mutations are recessive and analyses of gene function often focus on homozygous mutant phenotypes. Here we describe parts of the expression pattern of M-twist in the head of developing wild-type mice and present our analysis of the
Autor:
Serge Vicaire, Dominique Bonneau, Pierre Bitoun, Nicholas Katsanis, Sophie Hellé, Alice Goldenberg, Valérie Drouin-Garraud, Marie-Claire Vincent, Jean Marc Danse, Vincent Marion, Sabine Sigaudy, Joelle Roume, M. Hamdani, Sylvie Odent, Christine Francannet, Erica E. Davis, Alain Verloes, V. Bennouna-Greene, Jean Muller, Josseline Kaplan, Hélène Dollfus, Virginie Laurier, Jean-Louis Mandel, André Mégarbané, Carmen C. Leitch, Jane Green, Mireille Cossée, Corinne Stoetzel, Nicole Philip, Olivier Poch
Publikováno v:
Human Genetics
Human Genetics, Springer Verlag, 2010, 127 (5), pp.583-93. ⟨10.1007/s00439-010-0804-9⟩
Human Genetics, 2010, 127 (5), pp.583-93. ⟨10.1007/s00439-010-0804-9⟩
Human Genetics, Springer Verlag, 2010, 127 (5), pp.583-93. 〈10.1007/s00439-010-0804-9〉
Human Genetics, Springer Verlag, 2010, 127 (5), pp.583-93. ⟨10.1007/s00439-010-0804-9⟩
Human Genetics, 2010, 127 (5), pp.583-93. ⟨10.1007/s00439-010-0804-9⟩
Human Genetics, Springer Verlag, 2010, 127 (5), pp.583-93. 〈10.1007/s00439-010-0804-9〉
International audience; Bardet-Biedl syndrome (BBS), an emblematic disease in the rapidly evolving field of ciliopathies, is characterized by pleiotropic clinical features and extensive genetic heterogeneity. To date, 14 BBS genes have been identifie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::371e52fd6b2c5514fd0c45f77e0b1a49
https://www.hal.inserm.fr/inserm-00462147
https://www.hal.inserm.fr/inserm-00462147
Autor:
Sophie Hellé, Israël Nisand, Vincent Marion, Sabine Sigaudy, Corinne Stoetzel, Marie-Claire Vincent, Laurence Faivre, Jean-Louis Mandel, Alain Verloes, Bérénice Doray, Jean-Marc Danse, Pierre Bitoun, Elise Schaefer, Christian P. Hamel, Alice Goldenberg, Hélène Dollfus, Dominique Bonneau, Sonia Finck, Myriam Durand, Muriel Holder, B. Viville
Publikováno v:
Eur J Med Genet
Eur J Med Genet, 2010, 54 (2), pp.157-160. ⟨10.1016/j.ejmg.2010.10.004⟩
Eur J Med Genet, 2010, 54 (2), pp.157-160. ⟨10.1016/j.ejmg.2010.10.004⟩
International audience; Hydrometrocolpos and polydactyly diagnosed in the prenatal period or early childhood may raise diagnostic dilemmas especially in distinguishing McKusick-Kaufman syndrome (MKKS) and the Bardet-Biedl syndrome (BBS). These two co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44c585ee5e84bb8d0c6e351410e43d75
https://hal.univ-angers.fr/hal-03419096
https://hal.univ-angers.fr/hal-03419096
Autor:
F. Veillon, V. Pelletier, Jean Marc Danse, Vincent Marion, B. Leheup, Jacqueline Vigneron, Hélène Dollfus, C. Thibault, Sophie Hellé, Sophie Riehm, Corinne Stoetzel, Luc Moulinier, V. Bennouna Greene
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2009, 149A (10), pp.2141-6. ⟨10.1002/ajmg.a.33015⟩
American Journal of Medical Genetics Part A, 2009, 149A (10), pp.2141-6. ⟨10.1002/ajmg.a.33015⟩
American Journal of Medical Genetics Part A, Wiley, 2009, 149A (10), pp.2141-6. ⟨10.1002/ajmg.a.33015⟩
American Journal of Medical Genetics Part A, 2009, 149A (10), pp.2141-6. ⟨10.1002/ajmg.a.33015⟩
International audience; Branchio-oculo-facial syndrome (BOFS) is an autosomal-dominant condition characterized by three main features, respectively: branchial defects, ocular anomalies, and craniofacial defects including cleft lip and/or palate (CL/P
Autor:
Vincent Marion, Jean Marc Danse, Dominique Schlicht, Michael Koch, Nadia Messaddeq, Hélène Dollfus, Elisabeth Flori, Jean-Louis Mandel, Corinne Stoetzel
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, National Academy of Sciences, 2009, 106 (6), pp.1820-5. ⟨10.1073/pnas.0812518106⟩
Proceedings of the National Academy of Sciences of the United States of America, 2009, 106 (6), pp.1820-5. ⟨10.1073/pnas.0812518106⟩
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2009, 106 (6), pp.1820-5. ⟨10.1073/pnas.0812518106⟩
Proceedings of the National Academy of Sciences of the United States of America, 2009, 106 (6), pp.1820-5. ⟨10.1073/pnas.0812518106⟩
International audience; Bardet-Biedl syndrome (BBS) is an inherited ciliopathy generally associated with severe obesity, but the underlying mechanism remains hypothetical and is generally proposed to be of neuroendocrine origin. In this study, we sho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e62cbfe2cc3f0759042689348e3537c9
https://europepmc.org/articles/PMC2635307/
https://europepmc.org/articles/PMC2635307/
Autor:
Dominique Bonneau, Olivier Poch, Jean Muller, Virginie Laurier, Evelyne Friederich, Frédéric Plewniak, Nicholas Katsanis, Carmen C. Leitch, Serge Vicaire, Norann A. Zaghloul, Hélène Dollfus, Jean-Louis Mandel, Jean-Marc Danse, Thomy de Ravel, Pierre Sarda, Christelle Thibault, Alain Verloes, Erica E. Davis, Richard A. Lewis, Corinne Stoetzel, Christian P. Hamel, Cécile Jacquelin
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2007, 80 (1), pp.1-11. ⟨10.1086/510256⟩
American Journal of Human Genetics, 2007, 80 (1), pp.1-11. ⟨10.1086/510256⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2007, 80 (1), pp.1-11. ⟨10.1086/510256⟩
American Journal of Human Genetics, 2007, 80 (1), pp.1-11. ⟨10.1086/510256⟩
Bardet-Biedl syndrome (BBS) is primarily an autosomal recessive ciliopathy characterized by progressive retinal degeneration, obesity, cognitive impairment, polydactyly, and kidney anomalies. The disorder is genetically heterogeneous, with 11 BBS gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::967601f8ecb346c0ffb04e68ba23a93b
https://europepmc.org/articles/PMC1785304/
https://europepmc.org/articles/PMC1785304/
Autor:
Virginie Laurier, Corinne Stoetzel, Patricia Amati-Bonneau, Nabiha Salem, Dominique Bonneau, Jean Muller, Olivier Poch, Hélène Dollfus, Nadine Jalkh, André Mégarbané, Jean-Louis Mandel, Eliane Chouery, Jean-Marc Danse, Christelle Thibault, Serge Licaire, Sandra Corbani
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2006, 14 (11), pp.1195-203. ⟨10.1038/sj.ejhg.5201688⟩
European Journal of Human Genetics, Nature Publishing Group, 2006, 14 (11), pp.1195-203. ⟨10.1038/sj.ejhg.5201688⟩
International audience; The extensive genetic heterogeneity of Bardet-Biedl syndrome (BBS) is documented by the identification, by classical linkage analysis complemented recently by comparative genomic approaches, of nine genes (BBS1-9) that account
Autor:
Edward G. Rowan, Renée Ménez, André Ménez, Evelyne Lajeunesse, Sylvaine Gasparini, Pascal Drevet, Jean Marc Danse, Alan L. Harvey, Louise C. Young, Hossein Vatanpour, Jean-Claude Boulain, Suzanne Pinkasfeld, Frédéric Ducancel, Grolamrize Poorheidari
Publikováno v:
FEBS letters. 356(2-3)
We constructed a synthetic gene encoding the published amino acid sequence of DTx from Dendroaspis angusticeps, a ligand of voltage-dependent postassium channels that facilitates neurotransmitter release. We expressed it in Escherichia coli as a fusi
Autor:
Jean-Marc Danse, Jean-Marie Garnier
Publikováno v:
Growth factors (Chur, Switzerland). 8(1)
NGFs have been isolated from the venom of many snakes. Here we report the isolation and the sequencing of a nearly full-length NGF cDNA from the Bungarus multicinctus venom gland cDNA library. The structure of the predicted krait precursor resembles