Search Results for: Jean-Laurent Casanova
Casanova, whose research established for the first time that a predisposition to infectious diseases in children can be genetically determined, has been named one of 27 new investigators with the Howard Hughes Medical Institute. His appointment brings the total number of Rockefeller scientists supported by HHMI to 16. More »
An international team of scientists led by Rockefeller University researchers has identified the defective gene responsible for a rare disorder in which children are born without a spleen, which makes them susceptible to life-threatening bacterial infections early in life. The findings may lead to new diagnostic tests and raises new questions about the role of this gene in the body’s protein-making machinery.
Science online: April 11, 2013 Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia Alexandre Bolze, Nizar Mahlaoui, Minji Byun, Bridget Turner, Nikolaus Trede, Steven R. Ellis, Avinash Abhyankar, Yuval Itan, Etienne Patin, Samuel Brebner, Paul Sackstein, Anne Puel, … More »
Researchers at Rockefeller University, along with colleagues at Necker Hospital for Sick Children and the Pasteur Institute in Paris and Ben-Gurion University in Israel, have generated the full set of distances, routes and degrees of separation between any two human genes, creating a map of gene “shortcuts” that aims to simplify the hunt for disease-causing genes in monogenic diseases. More »
Proceedings of the National Academy of Sciences USA online: March 18, 2013 The human gene connectome as a map of short cuts for morbid allele discovery Yuval Itana, Shen-Ying Zhang, Guillaume Vogt, Avinash Abhyankar, Melina Herman, Patrick Nitschke, Dror Fried, … More »
Rice, head of the Laboratory of Virology and Infectious Disease at Rockefeller, has been awarded the 100,000 euro prize for his description of the molecular and cellular basis of hepatitis C infection in humans.
Nature Immunology online: October 28, 2012 Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency Bertrand Boisson, Emmanuel Laplantine, Carolina Prando, Silvia Giliani, Elisabeth Israelsson, Zhaohui Xu, Avinash Abhyankar, Laura Israël, Giraldina Trevejo-Nunez, Dusan Bogunovic, Alma-Martina Cepika, … More »
Nature online: October 28, 2012 Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells Fabien G. Lafaille, Itai M. Pessach, Shen-Ying Zhang, Michael J. Ciancanelli, Melina Herman, Avinash Abhyankar, Shui-Wang Ying, Sotirios Keros, Peter A. Goldstein, Gustavo Mostoslavsky, … More »
Nature Genetics 44: 1255-1259 De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy Giulia Barcia, Matthew R Fleming, Aline Deligniere, Valeswara-Rao Gazula, Maile R Brown, Maeva Langouet, Haijun Chen, Jack Kronengold, Avinash Abhyankar, Roberta Cilio, Patrick … More »
The Journal of Experimental Medicine 209: 1813-1823 Macrophages induce differentiation of plasma cells through CXCL10/IP-10 Wei Xu, HyeMee Joo, Sandra Clayton, Melissa Dullaers, Marie-Cecile Herve, Derek Blankenship, Maria Teresa De La Morena, Robert Balderas, Capucine Picard, Jean-Laurent Casanova, Virginia Pascual, … More »
Research led by Rockefeller University scientists found that a protein once thought to be mainly involved in antiviral immunity is instead vital to fighting a type of bacteria that cause diseases such as tuberculosis and leprosy.
The award is bestowed upon a leading biomedical research scientist who has made outstanding contributions to interferon and cytokine research, either in a basic or applied field. Casanova’s studies have important clinical implications, as they provide a rationale for developing new therapeutic approaches based on an understanding of the host component of infectious diseases. More »
The Journal of Experimental Medicine online: August 7, 2012 Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood Melina Herman, Michael Ciancanelli, Yi-Hung Ou, Lazaro Lorenzo, Maja Klaudel-Dreszler, Elodie Pauwels, Vanessa Sancho-Shimizu, Rebeca Pérez de Diego, … More »
Science online: August 2, 2012 Mycobacterial Disease and Impaired IFN-γ Immunity in Humans with Inherited ISG15 Deficiency Dusan Bogunovic, Minji Byun, Larissa A. Durfee, Avinash Abhyankar, Ozden Sanal, Davood Mansouri, Sandra Salem, Irena Radovanovic, Audrey V. Grant, Parisa Adimi, Nahal … More »
The Journal of Clinical Investigation online: August 1, 2012 Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections Amandine Crequer, Anja Troeger, Etienne Patin, Cindy S. Ma, Capucine Picard, Vincent Pedergnana, Claire Fieschi, Annick Lim, Avinash Abhyankar, … More »
The Lancet 379: 2500 Herpes in STAT1 deficiency Beáta Tóth, Leonóra Méhes, Szilvia Taskó, Zsuzsanna Szalai, Zsolt Tulassay, Sophie Cypowyj, Jean-Laurent Casanova, Anne Puel and László Maródi
Developmental Cell 22: 913-926 Congenital Asplenia in Mice and Humans with Mutations in a Pbx/Nkx2-5/p15 Module Matthew Koss, Alexandre Bolze, Andrea Brendolan, Matilde Saggese, Terence D. Capellini, Ekaterina Bojilova, Bertrand Boisson, Owen W.J. Prall, David A. Elliott, Mark Solloway, Elisa … More »
Nature Immunology online: December 25, 2011 B cell–helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen Irene Puga, Montserrat Cols, Carolina M. Barra, Bing He, Linda Cassis, Maurizio Gentile, Laura Comerma, Alejo Chorny, … More »
Nature Genetics online: December 11, 2011 Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome Carine Le Goff, Clémentine Mahaut, Avinash Abhyankar, Wilfried Le Goff, Valérie Serre, Alexandra Afenjar, Anne Destrée, Maja di Rocco, … More »