Stress response, behavior, and development are shaped by transposable element-induced mutations in Drosophila

Autor: Gabriel E. Rech, Anna-Sophie Fiston-Lavier, José Luis Villanueva-Cañas, Miriam Merenciano, Hadi Quesneville, Vivien Horváth, Sandeep Venkataram, Dmitri A. Petrov, Josefa González, Isabelle Luyten, Maite G. Barrón, Maria Bogaerts-Marquez

Publikováno v: PLoS Genetics
PLoS Genetics, 2019, 15 (2), pp.e1007900. ⟨10.1371/journal.pgen.1007900⟩
PLoS Genetics, Public Library of Science, 2019, 15 (2), pp.e1007900. ⟨10.1371/journal.pgen.1007900⟩
Digital.CSIC. Repositorio Institucional del CSIC
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PLOS Genetics
Recercat. Dipósit de la Recerca de Catalunya
PLoS Genetics, Vol 15, Iss 2, p e1007900 (2019)
Plos Genetics 2 (15), 1-33. (2019)

Most of the current knowledge on the genetic basis of adaptive evolution is based on the analysis of single nucleotide polymorphisms (SNPs). Despite increasing evidence for their causal role, the contribution of structural variants to adaptive evolut

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c969a3bf25f4b350006d102360e71a20
http://hdl.handle.net/10261/207488

Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations

Autor: Tardieu, C., Jung, S., Niederreither, K., Prasad, M., Hadj-Rabia, S., Philip, N., Mallet, A., Consolino, E., Sfeir, E., Noueiri, B., Chassaing, Nicolas, Dollfus, H., Manière, M.C., Bloch-Zupan, A., Clauss, F.

Publikováno v: Clinical Genetics
Clinical Genetics, Wiley, 2017, 92 (5), pp.477-486. ⟨10.1111/cge.12972⟩

International audience; WNT10A gene encodes a canonical wingless pathway signaling molecule involved in cell fate specification as well as morphogenetic patterning of the developing ectoderm, nervous system, skeleton, and tooth. In patients, WNT10A m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::719d480177fcd04a6a9e2c362e9a5428
https://hal-univ-tlse3.archives-ouvertes.fr/hal-03282733

Evolutionary history of tuberculosis shaped by conserved mutations in the PhoPR virulence regulator

Autor: Charlotte Passemar, Alexandre Pawlik, Wladimir Malaga, Flavie Moreau, Mamadou Daffé, Carlos Martin, Roland Brosch, Christophe Guilhot, Catherine Astarie-Dequeker, Françoise Laval, Jesús Gonzalo-Asensio

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, 2014, 111 (31), pp.11491-11496. ⟨10.1073/pnas.1406693111⟩
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2014, 111 (31), pp.11491-11496. ⟨10.1073/pnas.1406693111⟩
Zaguán. Repositorio Digital de la Universidad de Zaragoza
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International audience; Although the bovine tuberculosis (TB) agent, Mycobacterium bovis, may infect humans and cause disease, long-term epidemiological data indicate that humans represent a spill-over host in which infection with M. bovis is not sel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08d71c0a455726970b4a1c9fe0ec44b4
https://doi.org/10.1073/pnas.1406693111

Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria

Autor: Marthe Vilotte, Patrick Calvas, Arnold Munnich, Nicolas Chassaing, Olivier Roche, Akihiko Tawara, Josseline Kaplan, Antoine Guilloux, Alain Regnier, Jean-Yves Douet, Arturo Ramirez-Miranda, Christine Bole-Feysot, Elfride De Baere, Hannah Verdin, Bruno Passet, Yusuke Nakamura, Juan Carlos Zenteno, Hiroyuki Kondo, Masaru Iwai, Ken Yamamoto, Toshihiro Tanaka, Sylvie Gerber, Jean-Michel Rozet, Jean-Luc Vilotte, Wataru Kimura, Lucas Fares-Taie, Isabelle Raymond-Letron, Hugo Moisset, Sylvie Odent

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2015, 96 (4), pp.631-639. ⟨10.1016/j.ajhg.2015.01.014⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2015, 96 (4), pp.631-639. 〈10.1016/j.ajhg.2015.01.014〉
American Journal of Human Genetics, 2015, 96 (4), pp.631-639. ⟨10.1016/j.ajhg.2015.01.014⟩

International audience; Congenital microcoria (MCOR) is a rare autosomal-dominant disorder characterized by inability of the iris to dilate owing to absence of dilator pupillae muscle. So far, a dozen MCOR-affected families have been reported worldwi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99149e10b70e92d38707142040f9a606
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01134461/document

Msx1 and Msx2 act as essential activators of Atoh1 expression in the murine spinal cord

Autor: Jean-Yves Tinevez, Vanessa Ribes, Cécile St Cloment, Miguel Lopes, Philippe Daubas, Céline Bourcier de Carbon, Nathalie Duval, Benoît Robert

Publikováno v: Development (Cambridge, England)
Development (Cambridge, England), Company of Biologists, 2014, 141 (8), pp.1726-1736. ⟨10.1242/dev.099002⟩
Development (Cambridge, England), 2014, 141 (8), pp.1726-1736. ⟨10.1242/dev.099002⟩

Dorsal spinal neurogenesis is orchestrated by the combined action of signals secreted from the roof plate organizer and a downstream transcriptional cascade. Within this cascade, Msx1 and Msx2 , two homeodomain transcription factors (TFs), are induce

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65360147508c4015bdbd00a1342e8f98
https://hal-pasteur.archives-ouvertes.fr/pasteur-02616459