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Displaying 92 of 2850 articles.

Key to blocking influenza virus may lie in a cell’s own machinery

...Researchers in Senior Attending Physician and Professor Jean-Laurent Casanova’s St. Giles Laboratory of Human Genetics combed through a database containing genetic information on patients who had suffered from severe infectious disease to find those with genetic changes that redu...

The Lancet 379: 2500 (June 30, 2012)

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

Science online: August 2, 2012

  Huibregtse, Laurent Abel, Stéphanie Boisson-Dupuis and Jean-Laurent Casanova

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...

Mutations in a single gene underlie vulnerability to two unrelated types of infections

...For the last 20 years, Rockefeller’s Jean-Laurent Casanova, professor, head of the St. Giles Laboratory of Human Genetics and Infectious Disease, Howard Hughes Medical Institute investigator, and a senior attending physician at The Rockefeller University Hospital, has sought to i...

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

Harvey, Jean-Laurent Casanova, Licia Selleri

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...

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...

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, ...

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...