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Displaying 90 of 2790 articles.

Nature Genetics 44: 1255-1259 (10-21-12)

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 C...
Awards and Honors

Charles Rice to receive 2015 Robert Koch Award

...The announcement marks the second consecutive year that a Rockefeller faculty member has received the Robert Koch Award; last year’s award went to Jean-Laurent Casanova for his work on understanding host genes and their products in infectious diseases. In addition, Ralph Steinman...

Developmental Cell 22: 913-926 (May 15, 2012)

Harvey, Jean-Laurent Casanova, Licia Selleri

Nature Immunology: December 25, 2011

...Diaz, J Magarian Blander, Claire-Michèle Farber, Guido Silvestri, Charlotte Cunningham-Rundles, Michaela Calvillo, Carlo Dufour, Lucia Dora Notarangelo, Vassilios Lougaris, Alessandro Plebani, Jean-Laurent Casanova, Stephanie C. Ganal, Andreas Diefenbach, Juan Ignacio Aróstegui, ...
Science News

Researchers create map of “shortcuts” between all human genes

...Giles lab, headed by Jean-Laurent Casanova, previously showed that children with HSE have mutations in TLR3 or in genes that are closely functionally related to TLR3. In other words, these genes are located at a short biological distance from TLR3. As a result, novel herpes simpl...
Science News

Scientists pinpoint source of recurrent yeast infections in autoimmune syndrome

...In 33 patients with the ailment, known as autoimmune polyendocrine syndrome, or APS-1, researchers led by Jean-Laurent Casanova, head of the Laboratory of Human Genetics of Infectious Diseases, found antibodies that attack a class of immune proteins called cytokines. Although sev...
Science News

Brain displays an intrinsic mechanism for fighting infection

...The lab, headed by Jean-Laurent Casanova, collaborated with scientists at Harvard Medical School and Memorial Sloan-Kettering Cancer Institute to create induced pluripotent stem cells. Made from the patients’ own tissue, the stem cells were developed into central nervous system c...
Campus News

Milestones

...Jean-Laurent Casanova, a 2014 Sanofi-Institut Pasteur Award, recognizing scientific progress in the life sciences. Dr. Casanova is being honored for his discovery of the role of single-gene mutations in infectious diseases, leading to novel treatments for certain pediatric...
Science News

Protein proves vital in immune response to bacteria

...But the lab, headed by Senior Attending Physician Jean-Laurent Casanova, tapped into their database of 300 people with what’s known as Mendelian susceptibility to mycobacterial disease, a rare disorder that predisposes individuals to become severely ill from exposure to mycobacte...

Nature Genetics: December 11, 2011

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, Delphine Héron, Sébastien Jacquemon...
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