Zobrazeno 1 - 10
of 67
pro vyhledávání: '"Jean Muller"'
Autor:
Adella Karam, Clarisse Delvallée, Alejandro Estrada-Cuzcano, Véronique Geoffroy, Jean-Baptiste Lamouche, Anne-Sophie Leuvrey, Elsa Nourisson, Julien Tarabeux, Corinne Stoetzel, Sophie Scheidecker, Louise Frances Porter, Emmanuelle Génin, Richard Redon, Florian Sandron, Anne Boland, Jean-François Deleuze, Nicolas Le May, Hélène Dollfus, Jean Muller
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 10, p 8729 (2023)
Bardet–Biedl syndrome (BBS) is an autosomal recessive ciliopathy that affects multiple organs, leading to retinitis pigmentosa, polydactyly, obesity, renal anomalies, cognitive impairment, and hypogonadism. Until now, biallelic pathogenic variants
Externí odkaz:
https://doaj.org/article/2b873905703741e9b297d16106f54ccc
Autor:
Vasily Smirnov, Olivier Grunewald, Jean Muller, Christina Zeitz, Carolin D. Obermaier, Aurore Devos, Valérie Pelletier, Béatrice Bocquet, Camille Andrieu, Jean-Louis Bacquet, Elodie Lebredonchel, Saddek Mohand-Saïd, Sabine Defoort-Dhellemmes, José-Alain Sahel, Hélène Dollfus, Xavier Zanlonghi, Isabelle Audo, Isabelle Meunier, Elise Boulanger-Scemama, Claire-Marie Dhaenens
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 12, p 6410 (2021)
Variants of the TTLL5 gene, which encodes tubulin tyrosine ligase-like family member five, are a rare cause of cone dystrophy (COD) or cone-rod dystrophy (CORD). To date, only a few TTLL5 patients have been clinically and genetically described. In th
Externí odkaz:
https://doaj.org/article/496eccf7a4964da38f5a8e4346404eef
Publikováno v:
5th International Conference on Multiphase Flow and Heat Transfer (ICMFHT'20), ICMFHT
5th International Conference on Multiphase Flow and Heat Transfer (ICMFHT'20), ICMFHT, Apr 2020, EN LIGNE, France. ⟨10.11159/icmfht20.11⟩
5th International Conference on Multiphase Flow and Heat Transfer (ICMFHT'20), ICMFHT, Apr 2020, EN LIGNE, France. ⟨10.11159/icmfht20.11⟩
International audience; In this paper, the generation of a thermal shock in carbon dioxide is studied experimentally. The aim of the project is to improve the knowledge of a specific phenomenon during an hypothetical nuclear accident scenario, namely
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7af842ff301006812c9e4164f67208a8
https://hal.archives-ouvertes.fr/hal-03107893/file/0000163425_001.PDF
https://hal.archives-ouvertes.fr/hal-03107893/file/0000163425_001.PDF
Autor:
Jean Muller, Amélie Piton, Yvan Herenger, Hélène Dollfus, Véronique Geoffroy, Corinne Stoetzel, Arnaud Kress
Publikováno v:
Bioinformatics
Bioinformatics, 2018, 34 (20), pp.3572-3574. ⟨10.1093/bioinformatics/bty304⟩
Bioinformatics, 2018, 34 (20), pp.3572-3574. ⟨10.1093/bioinformatics/bty304⟩
Summary Structural Variations (SV) are a major source of variability in the human genome that shaped its actual structure during evolution. Moreover, many human diseases are caused by SV, highlighting the need to accurately detect those genomic event
Autor:
Evgeny Nudler, Vladimir Svetlov, Hélène Dollfus, Ulrich Stelzl, Thomas Walz, Daniel P. Farrell, Susan Roehl White, Jonathan Woodsmith, Luise Apelt, Frank DiMaio, Jaclyn S. Goldstein, Jean Muller, Zixuan Li, Maxence V. Nachury, Andrew R. Nager, Hui-Ting Chou
Publikováno v:
Structure
The unique membrane composition of cilia is maintained by a diffusion barrier at the transition zone that is breached when the BBSome escorts signaling receptors out of cilia. Understanding how the BBSome removes proteins from cilia has been hampered
Autor:
Marie-Paule Gelle, Reynaldo Antequera, Hélène Dollfus, Marie-Claude Cholette, Supawich Morkmued, Marzena Switala, Geert Mortier, Louis-Frédéric Jacquelin, Isabelle Bailleul-Forestier, Frédéric Obry, Jean Louis Raymond, Mathilde Huckert, Véronique Geoffroy, Agnès Bloch-Zupan, François Clauss, Wim Van Hul, Oana Caluseriu, Corinne Stoetzel, Marie-Cécile Manière, Joseph Hemmerlé, Jean-Luc Weickert, Virginie Laugel-Haushalter, Alain Verloes, Jean-Louis Coeuriot, Eveline Boudin, Sylvie Soskin, Ross McLeod, Pascal Dollé, Yves Alembik, Megana K. Prasad, Jean Muller, Eric Mathieu, Branka Dabovic, Annelies Dheedene, Daniel B. Rifkin, Débora Romeo Bertola
Publikováno v:
Human Molecular Genetics
Human molecular genetics
HUMAN MOLECULAR GENETICS
Human molecular genetics
HUMAN MOLECULAR GENETICS
Inherited dental malformations constitute a clinically and genetically heterogeneous group of disorders. Here, we report on four families, three of them consanguineous, with an identical phenotype, characterized by significant short stature with brac
Publikováno v:
Physica C: Superconductivity and Its Applications, Vol. 242, No 1-2 (1995) pp. 143-154
We investigate the reversible magnetization in the mixed state of a batch of Bi 2.12 Sr 1.90 Ca 1.02 Cu 1.96 O 8 + δ (Bi-2212) ceramics with different oxygen concentrations δ and superconducting transition temperatures T c between 50 and 92 K. Addi
Autor:
T.K. Jondo, M. Couach, A.F. Khoder, M.Th. Cohen-Adad, Jean Muller, Christine Opagiste, Jean-Louis Jorda, Gilles Triscone, Alain Junod, F. Monnier
Publikováno v:
Journal of Alloys and Compounds. 195:455-458
The reversible mixed state of the Tl 2 Ba 2 CuO 6+x high Tc superconductor with Tc of 90K has been investigated by DC SQUID measurements of the magnetization M(H, T) and by direct measurement of the AC differential susceptibility χ ' H which reduces
Autor:
T. Graf, Jean-Yves Genoud, Christine Opagiste, Gilles Triscone, Jean Muller, Alain Junod, M. François
Publikováno v:
Journal of Alloys and Compounds, Vol. 196, No 1-2 (1993) pp. 235-239
We have attempted to substitute calcium on the yttrium and barium sites in the “247” superconducting phase, i.e. (Y1 - x Cax)2Ba4 Cu7O15 + δ and Y2(Ba1 - xCax)4Cu7O15 + δ. X-Ray diffraction and microprobe analyses indicate that calcium enters t
Autor:
Christine Opagiste, T. Graf, Jean Muller, Alain Junod, M. François, Gilles Triscone, Jean-Yves Genoud
Publikováno v:
ChemInform. 24
We have attempted to substitute calcium on the yttrium and barium sites in the “247” superconducting phase, i.e. (Y1 - x Cax)2Ba4 Cu7O15 + δ and Y2(Ba1 - xCax)4Cu7O15 + δ. X-Ray diffraction and microprobe analyses indicate that calcium enters t