Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Sonia A. Karabina"'
Autor:
Elma El Khouri, Farah Diab, Camille Louvrier, Eman Assrawi, Aphrodite Daskalopoulou, Alexandre Nguyen, William Piterboth, Samuel Deshayes, Alexandra Desdoits, Bruno Copin, Florence Dastot Le Moal, Sonia Athina Karabina, Serge Amselem, Achille Aouba, Irina Giurgea
Publikováno v:
eLife, Vol 12 (2023)
A20 haploinsufficiency (HA20) is an autoinflammatory disease caused by heterozygous loss-of-function variations in TNFAIP3, the gene encoding the A20 protein. Diagnosis of HA20 is challenging due to its heterogeneous clinical presentation and the lac
Externí odkaz:
https://doaj.org/article/6a0d2246ad474a82a3c81c6805a3840a
Autor:
Camille Louvrier, Elma El Khouri, Martine Grall Lerosey, Pierre Quartier, Anne‐Marie Guerrot, Brigitte Bader Meunier, Julie Chican, Malaïka Mohammad, Eman Assrawi, Aphrodite Daskalopoulou, Angela Arenas Garcia, Bruno Copin, William Piterboth, Florence Dastot Le Moal, Sonia A. Karabina, Serge Amselem, Irina Giurgea
Publikováno v:
Arthritis & Rheumatology. 75:468-474
To identify the molecular basis of a severe systemic autoinflammatory disorder (SAID) and define its main phenotypic features, and to functionally assess the sequence variations identified in LYN, a gene encoding a nonreceptor tyrosine kinase.We used
Autor:
Eman Assrawi, Camille Louvrier, Elma El Khouri, Jérémie Delaleu, Bruno Copin, Florence Dastot-Le Moal, William Piterboth, Marie Legendre, Sonia A Karabina, Gilles Grateau, Serge Amselem, Irina Giurgea
Publikováno v:
Rheumatology
Rheumatology, Oxford University Press (OUP), 2022, Online ahead of print. ⟨10.1093/rheumatology/keac274⟩
Rheumatology, Oxford University Press (OUP), 2022, Online ahead of print. ⟨10.1093/rheumatology/keac274⟩
Objective To identify the molecular basis of a systemic autoinflammatory disorder (SAID) evocative of TNF receptor-associated periodic syndrome (TRAPS). Methods (i) Deep next generation sequencing (NGS) through a SAID gene panel; (ii) variant allele
Expression of SAA1, SAA2 and SAA4 genes in human primary monocytes and monocyte-derived macrophages.
Autor:
Claire Jumeau, Fawaz Awad, Eman Assrawi, Laetitia Cobret, Philippe Duquesnoy, Irina Giurgea, Dominique Valeyre, Gilles Grateau, Serge Amselem, Jean-François Bernaudin, Sonia-Athina Karabina
Publikováno v:
PLoS ONE, Vol 14, Iss 5, p e0217005 (2019)
Circulating serum amyloid A (SAA) is increased in various inflammatory conditions. The human SAA protein family comprises the acute phase SAA1/SAA2, known to activate a large set of innate and adaptive immune cells, and the constitutive SAA4. The liv
Externí odkaz:
https://doaj.org/article/4a732e9d6af14e98918f79b1410af891
Autor:
Fawaz Awad, Eman Assrawi, Claire Jumeau, Sophie Georgin-Lavialle, Laetitia Cobret, Philippe Duquesnoy, William Piterboth, Lucie Thomas, Katia Stankovic-Stojanovic, Camille Louvrier, Irina Giurgea, Gilles Grateau, Serge Amselem, Sonia-Athina Karabina
Publikováno v:
PLoS ONE, Vol 12, Iss 4, p e0175336 (2017)
Inflammasomes are multiprotein complexes nucleating around an NLR (Nucleotide-binding domain and Leucine-rich Repeat containing protein), which regulate the secretion of the pro-inflammatory interleukin (IL)-1β and IL-18 cytokines. Monocytes and mac
Externí odkaz:
https://doaj.org/article/e411abc7df9946bca63ba97d0c5193be
Identification of an A20 critical region harboring missense variations that lead to autoinflammation
Autor:
Elma El Khouri, Camille Louvrier, Eman Assrawi, Alexandre Nguyen, William Piterboth, Samuel Deshayes, Alexandra Desdoits, Bruno Copin, Florence Dastot Le Moal, Sonia-Athina Karabina, Serge Amselem, Achille Aouba, Irina Giurgea
A20 haploinsufficiency (HA20) is an autoinflammatory disease caused by heterozygous loss-of-function variations in TNFAIP3, the gene encoding the A20 protein. Diagnosis of HA20 is challenging due to its heterogeneous clinical presentation and the lac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d83d522c934252050ed9dd53037f0a4b
https://doi.org/10.1101/2022.07.29.502017
https://doi.org/10.1101/2022.07.29.502017
Autor:
Camille Louvrier, Fawaz Awad, Anne Cosnes, Elma El Khouri, Eman Assrawi, Aphrodite Daskalopoulou, Bruno Copin, Hélène Bocquet, Sandra Chantot Bastaraud, Angela Arenas Garcia, Florence Dastot Le Moal, Pierre De La Grange, Philippe Duquesnoy, Chiara I. Guerrera, William Piterboth, Nicolas Ortonne, Olivier Chosidow, Sonia A. Karabina, Serge Amselem, Irina Giurgea
Publikováno v:
Journal of Allergy and Clinical Immunology
Journal of Allergy and Clinical Immunology, 2022, Online ahead of print. ⟨10.1016/j.jaci.2022.06.016⟩
Journal of Allergy and Clinical Immunology, Elsevier, 2022, Online ahead of print. ⟨10.1016/j.jaci.2022.06.016⟩
Journal of Allergy and Clinical Immunology, 2022, Online ahead of print. ⟨10.1016/j.jaci.2022.06.016⟩
Journal of Allergy and Clinical Immunology, Elsevier, 2022, Online ahead of print. ⟨10.1016/j.jaci.2022.06.016⟩
International audience; Background. Urticarial lesions are observed in both cutaneous and systemic disorders. Familial forms of urticarial syndromes are rare and can be encountered in systemic auto-inflammatory diseases.Objective. We investigated a l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be48eeae829bba309a648118ae6a589d
https://www.hal.inserm.fr/inserm-03776857/document
https://www.hal.inserm.fr/inserm-03776857/document
Autor:
Irina Giurgea, Marie Legendre, Claire Le Jeunne, Gilles Grateau, Véronique Despert, Sandra Chantot-Bastaraud, Claire Jumeau, Philippe Duquesnoy, William Piterboth, Jean Pierre Siffroi, Eman Assrawi, Aleth Perdriger, Sophie Georgin-Lavialle, Serge Amselem, Fawaz Awad, Sylvie Odent, Genevieve Quenum‐Miraillet, Gérard Cam, Camille Louvrier, Laetitia Cobret, Sonia-Athina Karabina, Bruno Copin
Publikováno v:
Acr Open Rheumatology
ACR Open Rheumatology
ACR Open Rheumatology, Wiley, 2019, 1 (4), pp.267-276. ⟨10.1002/acr2.1039⟩
ACR Open Rheumatology
ACR Open Rheumatology, Wiley, 2019, 1 (4), pp.267-276. ⟨10.1002/acr2.1039⟩
International audience; Objective: To determine the molecular and cellular bases of autoinflammatory syndromes in a multigenerational French family with Muckle-Wells syndrome and in a patient originating from Portugal with familial cold autoinflammat
Autor:
Gilles Grateau, Irina Giurgea, Fawaz Awad, Serge Amselem, Sophie Georgin-Lavialle, Claire Jumeau, Eman Assrawi, Sonia-Athina Karabina, Camille Louvrier
Publikováno v:
Pharmacology and Therapeutics
Pharmacology and Therapeutics, Elsevier, 2018, 187, pp.133-149. ⟨10.1016/j.pharmthera.2018.02.011⟩
Pharmacology and Therapeutics, Elsevier, 2018, 187, pp.133-149. ⟨10.1016/j.pharmthera.2018.02.011⟩
International audience; Inflammasomes are intracellular multiprotein signaling complexes, mainly present in myeloid cells. They commonly assemble around a cytoplasmic receptor of the nucleotide-binding leucine-rich repeat containing receptor (NLR) fa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54731634454a1f4f7c90a7230e721e39
https://doi.org/10.1016/j.pharmthera.2018.02.011
https://doi.org/10.1016/j.pharmthera.2018.02.011
Autor:
Eman Assrawi, Fawaz Awad, Sonia-Athina Karabina, Irina Giurgea, Serge Amselem, Claire Jumeau, Camille Louvrier
Publikováno v:
Mechanisms of Ageing and Development
Mechanisms of Ageing and Development, Elsevier, 2018, 172, pp.131-137. ⟨10.1016/j.mad.2018.03.003⟩
Mechanisms of Ageing and Development, Elsevier, 2018, 172, pp.131-137. ⟨10.1016/j.mad.2018.03.003⟩
International audience; Photoaging and epithelial skin tumorigenesis are complex processes triggered mainly by UV radiation from chronic sun exposure. This leads to DNA damage and reactive oxygen species (ROS) production, which initiate an inflammato