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CDiReC - Chronic Granulomatous Disease (CGD) Diagnosis and Research Center


CDiReC : Centre Diagnostic et Recherche sur la CGD (Granulomatose Septique Chronique)

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CGD CENTER PUBLICATIONS (since 2005)

Click to read the abstracts of the publications on the open repository HAL
  • «Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease.», (2013) Stasia M. J., Mollin M., Martel C., Satre V., Coutton C., Amblard F., Vieville G., Van Montfrans J. M., Boelens J. J., Veenstra-Knol H. E., Van Leeuwen K., De Boer M., Brion J.-P., Roos D., European Journal of Human Genetics, epub ahead of print

  • «Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous disease - identification of eight novel mutations in CYBB and NCF2 genes.», (2012) Martel C., Mollin M., Beaumel S., Brion J. P., Coutton C., Satre V., Vieville G., Callanan M., Lefebvre C., Salmon A., Pagnier A., Plantaz D., Bost-Bru C., Eitenschenck L., Durieu I., Floret D., Galambrun C., Chambost H., Michel G., Stephan J.-L., Hermine O., Blanche S., Blot N., Rubié H., Pouessel G., Drillon-Haus S., Conrad B., Posfay-Barbe K. M., Havlicekova Z., Voskresenky-Baricic T., Jadranka K., Arriazu M. C., Garcia L. A., Sfaihi L., Mansour L. S. B., Bordigoni P., Stasia M. J., Journal of Clinical Immunology, 5 942-58

  • «Resistant Invasive Aspergillosis in an Autosomal Recessive Chronic Granulomatous Disease.», (2012) Sfaihi L., Maaloul I., Fourati H., Stasia M. J., Mnif Z., Hachicha M., Fetal and Pediatric Pathology, epub ahead of print

  • «Rare duplication or deletion of exons 6, 7 and 8 in CYBB leading to X-linked chronic granulomatous disease in two patients from different families.», (2012) Stasia M. J., Van Leeuwen K., De Boer M., Martel C., Mollin M., Thuret I., Michel G., Hanson C., Augustine N. H., Coutton C., Satre V., Wittwer C. T., Hill H., Roos D., Journal of Clinical Immunology, 4 653-62

  • «MC1R expression in HaCaT keratinocytes inhibits UVA-induced ROS production via NADPH oxidase- and cAMP-dependent mechanisms.», (2012) Henri P., Beaumel S., Guezennec A., Poumès C., Stoebner P.-E., Stasia M.-J., Guesnet J., Martinez J., Meunier L., Journal of Cellular Physiology, 6 2578-85

  • «Role of putative second transmembrane region of Nox2 protein in the structural stability and electron transfer of the phagocytic NADPH oxidase.», (2011) Picciocchi A., Debeurme F., Beaumel S., Dagher M.-C., Grunwald D., Jesaitis A. J., Stasia M.-J., Journal of Biological Chemistry, 32 28357-69

  • «[Lymphohistiocytic activation syndrome and Burkholderia cepacia complex infection in a child revealing chronic granulomatous disease and chromosomal integration of the HHV-6 genome].», (2011) Araujo A., Pagnier A., Frange P., Wroblewski I., Stasia M.-J., Morand P., Plantaz D., Arch Pediatr, 4 416-9

  • «Characterization of superoxide overproduction by the D-Loop(Nox4)-Nox2 cytochrome b(558) in phagocytes-Differential sensitivity to calcium and phosphorylation events.», (2011) Carrichon L., Picciocchi A., Debeurme F., Defendi F., Beaumel S., Jesaitis A. J., Dagher M.-C., Stasia M.-J., BBA - Biochimica et Biophysica Acta, 1 78-90

  • «Regulation of NADPH oxidase activity in phagocytes: relationship between FAD/NADPH binding and oxidase complex assembly.», (2010) Debeurme F., Picciocchi A., Dagher M.-C., Grunwald D., Beaumel S., Fieschi F., Stasia M.-J., Journal of Biological Chemistry, 43 33197-208

  • «Hematologically important mutations: X-linked chronic granulomatous disease (third update).», (2010) Roos D., Kuhns D. B., Maddalena A., Roesler J., Lopez J. A., Ariga T., Avcin T., De Boer M., Bustamante J., Condino-Neto A., Di Matteo G., He J., Hill H. R., Holland S. M., Kannengiesser C., Köker M. Y., Kondratenko I., Van Leeuwen K., Malech H. L., Marodi L., Nunoi H., Stasia M.-J., Ventura A. M., Witwer C. T., Wolach B., Gallin J. I., Blood Cells, Molecules and Diseases, 3 246-65

  • «Towards routine screening of rare genetic diseases: the example of chronic granulomatous disease.», (2010) Stasia M. J., Journal of Molecular Diagnostics, 3 269-71

  • «Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).», (2010) Roos D., Kuhns D. B., Maddalena A., Bustamante J., Kannengiesser C., De Boer M., Van Leeuwen K., Köker M. Y., Wolach B., Roesler J., Malech H. L., Holland S. M., Gallin J. I., Stasia M.-J., Blood Cells, Molecules and Diseases, 4 291-9

  • «Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation.», (2009) Bedard K., Attar H., Bonnefont J., Jaquet V., Borel C., Plastre O., Stasia M.-J., Antonarakis S. E., Krause K.-H., Human Mutation, epub ahead of print

  • «First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian families.», (2009) Bakri F. G., Martel C., Khuri-Bulos N., Mahafzah A., El-Khateeb M. S., Al-Wahadneh A. M., Hayajneh W. A., Hamamy H. A., Maquet E., Molin M., Stasia M. J., Journal of Clinical Immunology, 2 215-30

  • «A novel point mutation in the CYBB gene promoter leading to a rare X minus chronic granulomatous disease variant--impact on the microbicidal activity of neutrophils.», (2009) Defendi F., Decleva E., Martel C., Dri P., Stasia M. J., BBA - Biochimica et Biophysica Acta, 3 201-10

  • «Chronic-granulomatous disease», (2009) Stasia M.J., Cathebras P., Lutz M.-F., Durieu I., La Revue de Médecine Interne, 3 221-32

  • «A novel point mutation in the CYBB gene promoter leading to a rare X minus chronic granulomatous disease variant -- Impact on the microbicidal activity of neutrophils.», (2009) Defendi F., Decleva E., Martel C., Dri P., Stasia M. J., Biochimica et Biophysica Acta / Biochim biophysica Acta [Amsterdam], epub ahead of print

  • «Chronic granulomatous disease: the European experience.», (2009) van den Berg J. M., van Koppen E., Ahlin A., Belohradsky B. H., Bernatowska E., Corbeel L., Español T., Fischer A., Kurenko-Deptuch M., Mouy R., Petropoulou T., Roesler J., Seger R., Stasia M.-J., Valerius N. H., Weening R. S., Wolach B., Roos D., Kuijpers T. W., PLoS ONE, 4 e5234

  • «Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco.», (2008) Mostefai R., Morice-Picard F., Boralevi F., Sautarel M., Lacombe D., Stasia M. J., McGrath J., Taïeb A., American Journal of Medical Genetics Part A, 21 2762-9

  • «Genetics and immunopathology of chronic granulomatous disease.», (2008) Stasia M. J., Li X. J., Seminars in Immunopathology, 3 209-35

  • «New insights into the membrane topology of the phagocyte NADPH oxidase: characterization of an anti-gp91-phox conformational monoclonal antibody.», (2007) Campion Y., Paclet M.-H., Jesaitis A. J., Marques B., Grichine A., Berthier S., Lenormand J.-L., Lardy B., Stasia M.-J., Morel F., Biochimie, 9 1145-58

  • «The X+ chronic granulomatous disease as a fabulous model to study the NADPH oxidase complex activation», (2007) Stasia M.-J., Médecine sciences : M/S, 5 526-32

  • «Potent inhibition of store-operated Ca2+ influx and superoxide production in HL60 cells and polymorphonuclear neutrophils by the pyrazole derivative BTP2.», (2007) Steinckwich N., Frippiat J.-P., Stasia M.-J., Erard M., Boxio R., Tankosic C., Doignon I., Nü&#946e O., Journal of leukocyte biology, 4 1054-64
    • http://www.hal.inserm.fr/inserm-00276875/PDF/Steinckwich_J0406-248-2.pdf
    • http://www.hal.inserm.fr/inserm-00276875/PDF/Steinckwich_figure_1-8_J0406-248-2.pdf

  • «Leu505 of Nox2 is crucial for optimal p67phox-dependent activation of the flavocytochrome b558 during phagocytic NADPH oxidase assembly.», (2007) Li X. J., Fieschi F., Paclet M.-H., Grunwald D., Campion Y., Gaudin P., Morel F., Stasia M.-J., Journal of Leukocyte Biology, 1 238-49

  • «Potent inhibition of store-operated Ca2+ influx and superoxide production in HL60 cells and polymorphonuclear neutrophils by the pyrazole derivative BTP2», (2007) Steinckwich N., Frippiat J.-P., Stasia M.-J., Erard M., Boxio R., Tankosic C., Doignon I., Nusse O.L., Journal of leukocyte biology, 4 1054-1064

  • «Crucial role of two potential cytosolic regions of Nox2, 191TSSTKTIRRS200 and 484DESQANHFAVHHDEEKD500, on NADPH oxidase activation.», (2005) Li X. J., Grunwald D., Mathieu J., Morel F., Stasia M.-J., The journal of biological chemistry, 15 14962-73

  • «Gene symbol: CYBB. Disease: X-linked chronic granulomatous disease.», (2005) Stasia M.J., Human Genetics, 3 236

  • «Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease.», (2005) Stasia M. J., Bordigoni P., Floret D., Brion J. P., Bost-Bru C., Michel G., Gatel P., Durant-Vital D., Voelckel M. A., Li X. J., Guillot M., Maquet E., Martel C., Morel F., Human Genetics, 1-2 72-82



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  Directeur de publication:  Marie-José Stasia   Webmaster:   Marie-Claire Dagher  Last update:  May, 6, 2013