Zobrazeno 1 - 10
of 132
pro vyhledávání: '"Jean-Baptiste Rivière"'
Autor:
Karl Grenier, MD, PhD, Jean-Baptiste Rivière, PhD, Bouchra Ouled Amar Bencheikh, PhD, Andrea Liliam Gomez Corredor, PhD, Benjamin Christopher Shieh, MD, Hangjun Wang, MD, Pierre Olivier Fiset, MD, PhD, Sophie Camilleri-Broët, MD, PhD
Publikováno v:
JTO Clinical and Research Reports, Vol 4, Iss 7, Pp 100530- (2023)
Introduction: Translocations of the ROS1 gene were found to drive tumorigenesis in 1% to 2% of lung adenocarcinoma. In clinical practice, ROS1 rearrangements are often screened by immunohistochemistry (IHC) before confirmation with either fluorescenc
Externí odkaz:
https://doaj.org/article/9f9cb44d4e1641f0a394aabbb3688464
Autor:
Chunmei Li, Victor L Jensen, Kwangjin Park, Julie Kennedy, Francesc R Garcia-Gonzalo, Marta Romani, Roberta De Mori, Ange-Line Bruel, Dominique Gaillard, Bérénice Doray, Estelle Lopez, Jean-Baptiste Rivière, Laurence Faivre, Christel Thauvin-Robinet, Jeremy F Reiter, Oliver E Blacque, Enza Maria Valente, Michel R Leroux
Publikováno v:
PLoS Biology, Vol 14, Iss 3, p e1002416 (2016)
Cilia have a unique diffusion barrier ("gate") within their proximal region, termed transition zone (TZ), that compartmentalises signalling proteins within the organelle. The TZ is known to harbour two functional modules/complexes (Meckel syndrome [M
Externí odkaz:
https://doaj.org/article/8218a5f05b2d4ec7ac530fd44daeffc4
Autor:
Samin A Sajan, Liliana Fernandez, Sahar Esmaeeli Nieh, Eric Rider, Polina Bukshpun, Mari Wakahiro, Susan L Christian, Jean-Baptiste Rivière, Christopher T Sullivan, Jyotsna Sudi, Michael J Herriges, Alexander R Paciorkowski, A James Barkovich, Joseph T Glessner, Kathleen J Millen, Hakon Hakonarson, William B Dobyns, Elliott H Sherr
Publikováno v:
PLoS Genetics, Vol 9, Iss 10, p e1003823 (2013)
Agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG) are severe congenital brain malformations with largely undiscovered causes. We conducted a large-scale chromosomal copy number variation (CNV) discovery eff
Externí odkaz:
https://doaj.org/article/38bc6373d53e49c3b54ea00de1a412d8
Autor:
Cynthia V Bourassa, Jean-Baptiste Rivière, Patrick A Dion, Geneviève Bernard, Sabrina Diab, Michel Panisset, Sylvain Chouinard, Nicolas Dupré, Hélène Fournier, John Raelson, Majid Belouchi, Guy A Rouleau
Publikováno v:
PLoS ONE, Vol 6, Iss 1, p e16254 (2011)
Essential tremor (ET) is a complex genetic disorder for which no causative gene has been found. Recently, a genome-wide association study reported that two variants in the LINGO1 locus were associated to this disease. The aim of the present study was
Externí odkaz:
https://doaj.org/article/4bc29343cc0b4aab9350dd534097d709
Autor:
Martin Chevarin, Diana Alcantara, Juliette Albuisson, Marie-Agnès Collonge-Rame, Céline Populaire, Zohair Selmani, Amandine Baurand, Caroline Sawka, Geoffrey Bertolone, Patrick Callier, Yannis Duffourd, Philippe Jonveaux, Yves-Jean Bignon, Isabelle Coupier, François Cornelis, Christophe Cordier, Monique Mozelle-Nivoix, Jean-Baptiste Rivière, Paul Kuentz, Christel Thauvin, Romain Boidot, François Ghiringhelli, Marc O'Driscoll, Laurence Faivre, Sophie Nambot
Publikováno v:
Oncotarget. 14:111-125
Autor:
Gianluca D’Onofrio, Andrea Accogli, Mariasavina Severino, Haluk Caliskan, Tomislav Kokotović, Antonela Blazekovic, Kristina Gotovac Jercic, Silvana Markovic, Tamara Zigman, Krnjak Goran, Nina Barišić, Vlasta Duranovic, Ana Ban, Fran Borovecki, Danijela Petković Ramadža, Ivo Barić, Walid Fazeli, Peter Herkenrath, Carla Marini, Roberta Vittorini, Vykuntaraju Gowda, Arjan Bouman, Clarissa Rocca, Issam Azmi Alkhawaja, Bibi Nazia Murtaza, Malik Mujaddad Ur Rehman, Chadi Al Alam, Gisele Nader, Maria Margherita Mancardi, Thea Giacomini, Siddharth Srivastava, Javeria Raza Alvi, Hoda Tomoum, Sara Matricardi, Michele Iacomino, Antonella Riva, Marcello Scala, Francesca Madia, Angela Pistorio, Vincenzo Salpietro, Carlo Minetti, Jean-Baptiste Rivière, Myriam Srour, Stephanie Efthymiou, Reza Maroofian, Henry Houlden, Sonja Catherine Vernes, Federico Zara, Pasquale Striano, Vanja Nagy
Publikováno v:
Human Genetics. Springer-Verlag
Human Genetics
Human Genetics
Contactin-associated protein-like 2 (CNTNAP2) gene encodes for CASPR2, a presynaptic type 1 transmembrane protein, involved in cell–cell adhesion and synaptic interactions. Biallelic CNTNAP2 loss has been associated with “Pitt-Hopkins-like syndro
Publikováno v:
Trends in Genetics. 38:321-324
Maturity-onset diabetes in the young (MODY) comprises monogenic phenotypes of young-onset, insulinopenic diabetes. All its forms are dominantly inherited. Why? Are the pancreatic β cells only harmed by heterozygous variants? We propose that recessiv
Publikováno v:
Pediatric Dermatology. 39:281-287
Autor:
Jean-Marie Ravel, Jean-Louis Guéant, Natacha Dreumont, Marc Polivka, Jean-Baptiste Rivière, Frédéric Tran Mau-Them, Julien Thevenon, David Coelho, Gajja S. Salomons, Desirée E.C. Smith, Pauline Mosca, Emmanuelle Schmitt, Laurence Faivre, Gautam Kok, Marisa I. Mendes, Christel Thauvin-Robinet, Sabine A. Fuchs, Paul Kuentz, Arnaud Wiedemann, François Feillet
Publikováno v:
Human Mutation, 42(12), 1576-1583. Wiley-Liss Inc.
Human mutation, 42(12), 1576-1583. Wiley-Liss Inc.
Ravel, J-M, Dreumont, N, Mosca, P, Smith, D E C, Mendes, M I, Wiedemann, A, Coelho, D, Schmitt, E, Rivière, J-B, Tran Mau-Them, F, Thevenon, J, Kuentz, P, Polivka, M, Fuchs, S A, Kok, G, Thauvin-Robinet, C, Guéant, J-L, Salomons, G S, Faivre, L & Feillet, F 2021, ' A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever ', Human Mutation, vol. 42, no. 12, pp. 1576-1583 . https://doi.org/10.1002/humu.24285
Human mutation, 42(12), 1576-1583. Wiley-Liss Inc.
Ravel, J-M, Dreumont, N, Mosca, P, Smith, D E C, Mendes, M I, Wiedemann, A, Coelho, D, Schmitt, E, Rivière, J-B, Tran Mau-Them, F, Thevenon, J, Kuentz, P, Polivka, M, Fuchs, S A, Kok, G, Thauvin-Robinet, C, Guéant, J-L, Salomons, G S, Faivre, L & Feillet, F 2021, ' A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever ', Human Mutation, vol. 42, no. 12, pp. 1576-1583 . https://doi.org/10.1002/humu.24285
Aminoacyl-tRNA synthetases (aaRS) are ubiquitously expressed enzymes responsible for ligating amino acids to their cognate tRNA molecules through an aminoacylation reaction. The resulting aminoacyl-tRNA is delivered to ribosome elongation factors to
Autor:
Karl Grenier, Jean-Baptiste Rivière, Bouchra Ouled Amar Bencheikh, Andrea Gomez, Benjamin Christopher Shieh, Hangjun Wang, Pierre Olivier Fiset, Sophie Camilleri-Broët
Publikováno v:
JTO Clinical and Research Reports. :100530