Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Geneviéve de Saint Basile"'
Autor:
Tayebeh Soheili, Amandine Durand, Fernando E. Sepulveda, Julie Rivière, Chantal Lagresle-Peyrou, Hanem Sadek, Geneviève de Saint Basile, Samia Martin, Fulvio Mavilio, Marina Cavazzana, Isabelle André-Schmutz
Publikováno v:
Blood Advances, Vol 1, Iss 27, Pp 2781-2789 (2017)
Abstract: Patients with mutations in the UNC13D gene (coding for Munc13-4 protein) suffer from familial hemophagocytic lymphohistiocytosis type 3 (FHL3), a life-threatening immune and hyperinflammatory disorder. The only curative treatment is allogen
Externí odkaz:
https://doaj.org/article/96f17802a96f484f96e5f9a61eee4791
Autor:
Claire Leveau, Tania Gajardo, Marie-Thérèse El-Daher, Nicolas Cagnard, Alain Fischer, Geneviève de Saint Basile, Fernando E. Sepulveda
Publikováno v:
Haematologica, Vol 105, Iss 1 (2020)
The molecular machinery that regulates the balance between self-renewal and differentiation properties of hematopoietic stem cells (HSC) has yet to be characterized in detail. Here we found that the tetratricopeptide repeat domain 7 A (Ttc7a) protein
Externí odkaz:
https://doaj.org/article/2bc8e9f8cac840b68e21d3a536395535
Publikováno v:
Turkish Journal of Hematology, Vol 29, Iss 3, Pp 265-269 (2012)
Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous disease. Presentation of the disease such as primarily fever, hepatosplenomegaly, and cytopenia, which are the results of functional degradation in cytotoxic T-lymphocyt
Externí odkaz:
https://doaj.org/article/1b369e04a0f841748215ff033647b64e
Autor:
Sunil Pullaperuma, Beatrice Cooper, Ellen R A Thomas, Angela F. Brady, Mohnish Suri, Lisa J. Walker, Geneviéve de Saint Basile, Louise Brueton
Publikováno v:
Clinical dysmorphology. 18(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2713d402746a7ca31551b3e922268647
https://pubmed.ncbi.nlm.nih.gov/19318926
https://pubmed.ncbi.nlm.nih.gov/19318926
Autor:
Meriem Belabed, François-Xavier Mauvais, Sophia Maschalidi, Mathieu Kurowska, Nicolas Goudin, Jian-Dong Huang, Alain Fischer, Geneviève de Saint Basile, Peter van Endert, Fernando E. Sepulveda, Gaël Ménasché
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Kinesin-1 is a motor protein transporting cargo along microtubules. Here the authors show that kinesin-1 is required for antigen cross-presentation and coordinates endosome scission from early endosomes to allow sorting internalized cargoes towards t
Externí odkaz:
https://doaj.org/article/6b390d25f10f4b0fa7554f33d2fe6480
Autor:
Marie-Thérèse El-Daher, Julie Lemale, Julie Bruneau, Claire Leveau, Frédéric Guerin, Nathalie Lambert, Jean-Sébastien Diana, Bénédicte Neven, Fernando E. Sepulveda, Aurore Coulomb-L'Hermine, Thierry Molina, Capucine Picard, Alain Fischer, Geneviève de Saint Basile
Publikováno v:
Frontiers in Immunology, Vol 10 (2019)
Mutations in the tetratricopeptide repeat domain 7A (TTC7A) gene cause very early onset inflammatory bowel diseases (VOIBD) or multiple intestinal atresia associated with immune deficiency of various severities, ranging from combined immune deficienc
Externí odkaz:
https://doaj.org/article/2eee4e6109d1419e85a9d7180c1803fa
Wolman disease in patients with familial hemophagocytic lymphohistiocytosis (FHL) negative mutations
Autor:
Solaf Elsayed, Ezzat Elsobky, Azza Tantawy, Eman Ragab, Marine Gil, Nathalie Lambert, Geneviève de Saint Basile
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 17, Iss 3, Pp 277-280 (2016)
Background: Familial hemophagocytic lymphohistiocytosis is a rare autosomal recessive disease that is usually evident in the first few months or years of life. Major signs and symptoms include hepatomegaly, splenomegaly, anemia, leucopenia or thrombo
Externí odkaz:
https://doaj.org/article/414547d6dac24ecfaaf7d421811494f5
Autor:
Mohammed H. Mosa, Ophélie Nicolle, Sophia Maschalidi, Fernando E. Sepulveda, Aurelien Bidaud-Meynard, Constantin Menche, Birgitta E. Michels, Grégoire Michaux, Geneviève de Saint Basile, Henner F. Farin
Publikováno v:
Cellular and Molecular Gastroenterology and Hepatology, Vol 6, Iss 4, Pp 477-493.e1 (2018)
Background & Aims: Microvillus inclusion disease (MVID) is a congenital intestinal malabsorption disorder caused by defective apical vesicular transport. Existing cellular models do not fully recapitulate this heterogeneous pathology. The aim of this
Externí odkaz:
https://doaj.org/article/ef293e491f7240379703b18ddd4ab05a
Publikováno v:
F1000Research, Vol 4 (2015)
The granule-dependent cytotoxic activity of T and natural killer lymphocytes has progressively emerged as an important effector pathway not only for host defence but also for immune regulation. The analysis of an early-onset, severe, primary immune d
Externí odkaz:
https://doaj.org/article/9693789b41ce41d09d0c0f39923c185b
Autor:
Luisa Lorenzi, Giovanna Tabellini, William Vermi, Daniele Moratto, Fulvio Porta, Lucia D Notarangelo, Ornella Patrizi, Silvano Sozzani, Genevieve de Saint Basile, Sylvain Latour, David Pace, Silvia Lonardi, Fabio Facchetti, Raffaele Badolato, Silvia Parolini
Publikováno v:
PLoS ONE, Vol 8, Iss 11, p e80131 (2013)
Hermansky Pudlak type 2 syndrome (HPS2) is a rare autosomal recessive primary immune deficiency caused by mutations on β3A gene (AP3B1 gene). The defect results in the impairment of the adaptor protein 3 (AP-3) complex, responsible for protein sorti
Externí odkaz:
https://doaj.org/article/5c798621b8b14c7c9744fed0aefbccca