M. Stasia

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A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A220) leading to the activation of a cryptic splice site in intron 4

F. Morel, C. Martel, P. Bordigoni, 2002, Human Genetics.

Clinical, Functional and Genetic Analysis of Twenty-Four Patients with Chronic Granulomatous Disease – Identification of Eight Novel Mutations in CYBB and NCF2 Genes

B. Conrad, M. Callanan, J. Stéphan, 2012, Journal of Clinical Immunology.

Therapeutic effects of proteoliposomes on X-linked chronic granulomatous disease: proof of concept using macrophages differentiated from patient-specific induced pluripotent stem cells

J. Lenormand, Aline Le Roy, M. Stasia, 2017, International journal of nanomedicine.

Characterization of superoxide overproduction by the D-Loop(Nox4)-Nox2 cytochrome b(558) in phagocytes-Differential sensitivity to calcium and phosphorylation events.

A. Jesaitis, M. Dagher, M. Stasia, 2011, Biochimica et biophysica acta.

Inhibition of protein kinase C from polymorphonuclear neutrophils by long chain acyl coenzyme A and counteraction by Mg-ATP.

P. Vignais, A. Dianoux, M. Stasia, 1987, Biochemical and biophysical research communications.

Optimized Generation of Functional Neutrophils and Macrophages from Patient-Specific Induced Pluripotent Stem Cells: Ex Vivo Models of X0-Linked, AR220- and AR470- Chronic Granulomatous Diseases

K. Krause, D. Grunwald, T. Šarić, 2014, BioResearch open access.

New insights into the membrane topology of the phagocyte NADPH oxidase: characterization of an anti-gp91-phox conformational monoclonal antibody.

Alexei Grichine, A. Jesaitis, A. Grichine, 2007, Biochimie.

Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease

F. Morel, J. Brion, C. Martel, 2004, Human Genetics.

Crucial Role of Two Potential Cytosolic Regions of Nox2, 191TSSTKTIRRS200 and 484DESQANHFAVHHDEEKD500, on NADPH Oxidase Activation*

D. Grunwald, F. Morel, M. Stasia, 2005, Journal of Biological Chemistry.

Leu505 of Nox2 is crucial for optimal p67phox‐dependent activation of the flavocytochrome b558 during phagocytic NADPH oxidase assembly

D. Grunwald, F. Fieschi, F. Morel, 2007, Journal of leukocyte biology.

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).

S. Holland, D. Kuhns, H. Malech, 2000, Blood cells, molecules & diseases.

Towards routine screening of rare genetic diseases: the example of chronic granulomatous disease.

M. Stasia, 2010, The Journal of molecular diagnostics : JMD.

UvA-DARE ( Digital Academic Repository ) Chronic granulomatous disease : the European experience

Richard, A. Fischer, T. Kuijpers, 2009 .

Severe clinical forms of cytochrome b-negative chronic granulomatous disease (X91-) in 3 brothers with a point mutation in the promoter region of CYBB.

F. Morel, J. Brion, M. Stasia, 2003, The Journal of infectious diseases.

Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update).

J. L. Shephard, M. Vihinen, H. Kanegane, 2021, Blood cells, molecules & diseases.

Functional and genetic characterization of two extremely rare cases of Williams–Beuren Syndrome associated with chronic granulomatous disease

J. Brion, D. Roos, C. Coutton, 2013, European Journal of Human Genetics.

Hematologically important mutations: X-linked chronic granulomatous disease (third update).

S. Holland, T. Ariga, D. Kuhns, 1997, Blood cells, molecules & diseases.

RAGE and CYBA polymorphisms are associated with microalbuminuria and end-stage renal disease onset in a cohort of type 1 diabetes mellitus patients over a 20-year follow-up

P. Benhamou, M. Stasia, C. Genty, 2016, Acta Diabetologica.

Differential impact of glucose levels and advanced glycation end-products on tubular cell viability and pro-inflammatory/profibrotic functions.

P. Benhamou, M. Stasia, Sylvain Beaumel, 2014, Biochemical and biophysical research communications.

Scavenging of reactive oxygen species by tryptophan metabolites helps Pseudomonas aeruginosa escape neutrophil killing.

A. Le Gouellec, B. Polack, B. Guery, 2014, Free radical biology & medicine.

Regulation of NADPH Oxidase Activity in Phagocytes

D. Grunwald, M. Dagher, F. Fieschi, 2010, The Journal of Biological Chemistry.

Down‐regulation of NOX2 activity in phagocytes mediated by ATM‐kinase dependent phosphorylation

P. Thepchatri, D. Grunwald, H. Stieglitz, 2017, Free radical biology & medicine.

First Report of Clinical, Functional, and Molecular Investigation of Chronic Granulomatous Disease in Nine Jordanian Families

W. Hayajneh, C. Martel, A. Mahafzah, 2009, Journal of Clinical Immunology.

CYBA encoding p22(phox), the cytochrome b558 alpha polypeptide: gene structure, expression, role and physiopathology.

M. Stasia, 2016, Gene.

Neutrophil chemotaxis assay and inhibition by C3 ADP-ribosyltransferase.

P. Vignais, M. Stasia, 1995, Methods in enzymology.

Potent Inhibition of Store Operated Ca 2 + Influx and Superoxide Production in HL 60 Cells and Polymorphonuclear Neutrophils by the Pyrazole Derivative BTP 2 Running title : BTP 2 inhibits calcium influx in neutrophils

M. Erard, M. Stasia, J. Frippiat, 2017 .

Potent inhibition of store‐operated Ca2+ influx and superoxide production in HL60 cells and polymorphonuclear neutrophils by the pyrazole derivative BTP2

M. Erard, M. Stasia, J. Frippiat, 2007, Journal of leukocyte biology.

The respiratory burst of bovine neutrophilis

F. Morel, P. Vignais, M. Stasia, 1985 .

The respiratory burst of bovine neutrophils. Role of a b type cytochrome and coenzyme specificity.

F. Morel, P. Vignais, M. Stasia, 1985, European journal of biochemistry.

Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco

J. McGrath, D. Lacombe, F. Boralevi, 2008, American journal of medical genetics. Part A.

Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail.

A. Maturana, N. Demaurex, F. Morel, 2002, Biochimica et biophysica acta.

Purification and characterization of an isoform of protein kinase C from bovine neutrophils.

P. Vignais, A. Dianoux, M. Stasia, 1989, Biochemistry.

A 23-kDa protein as a substrate for protein kinase C in bovine neutrophils. Purification and partial characterization.

P. Vignais, A. Dianoux, M. Stasia, 1989, Biochemistry.

Ex Vivo Models of Chronic Granulomatous Disease.

M. Stasia, J. Brault, B. Vigne, 2019, Methods in molecular biology.

Chronic Granulomatous Disease: The European Experience

Dirk Roos, Theoni Petropoulou, A. Fischer, 2009, PloS one.

Genetic disorders coupled to ROS deficiency

U. Knaus, M. Stasia, J. Brault, 2015, Redox biology.

Genetics and immunopathology of chronic granulomatous disease

M. Stasia, X. Li, 2008, Seminars in Immunopathology.

MC1R expression in HaCaT keratinocytes inhibits UVA‐induced ROS production via NADPH Oxidase‐ and cAMP‐dependent mechanisms

A. Guézennec, P. Stoebner, M. Stasia, 2012, Journal of cellular physiology.

European contribution to the study of ROS: A summary of the findings and prospects for the future from the COST action BM1203 (EU-ROS)

P. Mouthuy, L. Milković, N. Žarković, 2017, Redox biology.

Role of Putative Second Transmembrane Region of Nox2 Protein in the Structural Stability and Electron Transfer of the Phagocytic NADPH Oxidase*

D. Grunwald, A. Jesaitis, M. Dagher, 2011, The Journal of Biological Chemistry.

Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants – identification of 11 novel mutations in CYBB

G. Catho, J. Rendu, Y. Bertrand, 2020, Clinical and experimental immunology.

The X-CGD PLB-985 Cell Model for NOX2 Structure-Function Analysis.

M. Stasia, Sylvain Beaumel, 2019, Methods in molecular biology.

Clinical, Functional and Genetic Analysis of Twenty-Four Patients with Chronic Granulomatous Disease – Identification of Eight Novel Mutations in CYBB and NCF2 Genes

B. Conrad, M. Callanan, J. Stéphan, 2012, Journal of Clinical Immunology.

The NOX Family of Proteins Is Also Present in Bacteria

J. Dupuy, J. Fontecilla-Camps, F. Fieschi, 2017, mBio.

[Lymphohistiocytic activation syndrome and Burkholderia cepacia complex infection in a child revealing chronic granulomatous disease and chromosomal integration of the HHV-6 genome].

P. Frange, P. Morand, A. Pagnier, 2011, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Hematologically important mutations: X-linked chronic granulomatous disease (fourth update).

J. L. Shephard, H. Kanegane, S. Holland, 2021, Blood cells, molecules & diseases.

Identification of NOX2 regions for normal biosynthesis of cytochrome b558 in phagocytes highlighting essential residues for p22phox binding.

D. Grunwald, F. Fieschi, M. Stasia, 2014, The Biochemical journal.

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.

P. Dri, C. Martel, M. Stasia, 2009, Biochimica et biophysica acta.

Functional analysis of two-amino acid substitutions in gp91phox in a patient with X-linked flavocytochrome b558-positive chronic granulomatous disease by means of transgenic PLB-985 cells

M. Eppink, F. Morel, D. Roos, 2004, Human Genetics.

Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation

S. Antonarakis, K. Krause, C. Borel, 2009, Human mutation.

NOX4 is the main NADPH oxidase involved in the early stages of hematopoietic differentiation from human induced pluripotent stem cells.

Sophie Park, M. Stasia, Michelle Mollin, 2019, Free radical biology & medicine.

Characterization of NADPH Oxidase Expression and Activity in Acute Myeloid Leukemia Cell Lines: A Correlation with the Differentiation Status

F. Gouilleux, F. Mazurier, H. Rezvani, 2021, Antioxidants.

Faut-il conserver l'utilisation de scores spécifiques pour la détermination précoce de la gravité des pancréatites aiguës ?Is the use of specific scoring system still justified in early evaluation of acute pancreatitis?

C. Létoublon, C. Arvieux, M. Stasia, 2000 .

Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq

J. Rendu, J. Fauré, W. Hayajneh, 2021, Frontiers in Immunology.

Altered Humoral Immune Responses and IgG Subtypes in NOX2-Deficient Mice and Patients: A Key Role for NOX2 in Antigen-Presenting Cells

K. Krause, A. Le Gouellec, P. Roux‐Lombard, 2018, Front. Immunol..

An unusual case of sarcoidosis

F. Morel, M. Stasia, C. Sauron, 2001, The Lancet.

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

C. Wittwer, M. de Boer, D. Roos, 2012, Journal of Clinical Immunology.

Hydrogen Peroxide Affects Growth of S. aureus Through Downregulation of Genes Involved in Pyrimidine Biosynthesis

P. François, J. Schrenzel, K. Krause, 2021, Frontiers in Immunology.

Immunocharacterization of β‐ and ζ‐subspecies of protein kinase C in bovine neutrophils

B. Strulovici, E. Chambaz, P. Vignais, 1990 .

ADP-ribosylation of a small size GTP-binding protein in bovine neutrophils by the C3 exoenzyme of Clostridium botulinum and effect on the cell motility.

P. Boquet, A. Jouan, P. Vignais, 1991, Biochemical and biophysical research communications.

NADPH oxidase 4 is dispensable for skin myofibroblast differentiation and wound healing

K. Krause, S. de Seigneux, V. Jaquet, 2023, Redox biology.

Decreased neural precursor cell pool in NADPH oxidase 2-deficiency: From mouse brain to neural differentiation of patient derived iPSC

K. Krause, A. Cuadrado, T. Šarić, 2017, Redox biology.

X-linked chronic granulomatous disease in a female carrier with novel pathogenic mutation and skewed X-inactivation.

A. Paiva, M. Stasia, F. Ramos, 2018, Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology.

Resistant Invasive Aspergillosis in an Autosomal Recessive Chronic Granulomatous Disease

M. Stasia, M. Hachicha, I. Maaloul, 2013, Fetal and pediatric pathology.

Copurification of rho protein and the rho-GDP dissociation inhibitor from bovine neutrophil cytosol. Effect of phosphoinositides on rho ADP-ribosylation by the C3 exoenzyme of Clostridium botulinum.

J. Garin, P. Boquet, P. Vignais, 1992, Biochemistry.

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

C. Wittwer, H. Hill, D. Roos, 2012, Journal of Clinical Immunology.

Characterization of superoxide overproduction by the D-Loop(Nox4)-Nox2 cytochrome b(558) in phagocytes-Differential sensitivity to calcium and phosphorylation events.

M. Dagher, M. Stasia, Sylvain Beaumel, 2011, Biochimica et biophysica acta.

The 23-kilodalton protein, a substrate of protein kinase C, in bovine neutrophil cytosol is a member of the S100 family.

J. Garin, P. Vignais, A. Dianoux, 1992, Biochemistry.