Mutational analysis of Aedes aegypti Dicer 2 provides insights into the biogenesis of antiviral exogenous small interfering RNAs

Autor: Rommel J. Gestuveo, Rhys Parry, Laura B. Dickson, Sebastian Lequime, Vattipally B. Sreenu, Matthew J. Arnold, Alexander A. Khromykh, Esther Schnettler, Louis Lambrechts, Margus Varjak, Alain Kohl

Publikováno v: PLoS Pathogens
PLoS Pathogens, 2022, 18 (1), pp.e1010202. ⟨10.1371/journal.ppat.1010202⟩
PLoS Pathogens, 18(1):e1010202. PUBLIC LIBRARY SCIENCE
PLoS Pathogens, Vol 18, Iss 1, p e1010202 (2022)

The exogenous small interfering RNA (exo-siRNA) pathway is a key antiviral mechanism in the Aedes aegypti mosquito, a widely distributed vector of human-pathogenic arboviruses. This pathway is induced by virus-derived double-stranded RNAs (dsRNA) tha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::668004ce18228df4d63817315e19dc19
https://hal.science/hal-03690773/document

TRIM33 gene somatic mutations identified by next generation sequencing in neoplasms of patients with anti-TIF1γ positive cancer-associated dermatomyositis

Autor: Cordel, Nadège, Derambure, Céline, Coutant, Sophie, Mariette, Xavier, Jullien, Denis, Debarbieux, Sébastien, Chosidow, Olivier, Meyer, Alain, Bessis, Didier, Joly, Pascal, Mathian, Alexis, Levesque, Hervé, Sabourin, Jean-Christophe, Tournier, Isabelle, Boyer, Olivier, Amoura, Zahir, Aouizerate, Jessie, Benveniste, Olivier, Brocheriou, Isabelle, Dechelotte, Benoît, Graveleau, Julie, Guerzider, Pascale, Isaac, Sylvie, Kanitakis, Jean, Lannes, Béatrice, Lazure, Thierry, Rigau, Valérie, Sibilia, Jean

Publikováno v: Rheumatology
Rheumatology, Oxford University Press (OUP), 2021, 60 (12), pp.5863-5867. ⟨10.1093/rheumatology/keab260⟩

Objective To deep sequence the TRIM33 gene in tumours from patients with cancer-associated anti-TIF1γ autoantibody-positive dermatomyositis (DM) as TRIM33 somatic mutations in tumours may trigger this auto-immune disease. Methods Next generation seq

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d1490578dbb3aeb06d71fdad84a47d3
https://pubmed.ncbi.nlm.nih.gov/33764396

Malignancy after Augmentation Enterocystoplasty: A Nationwide Study of Natural History, Prognosis and Oncogene Panel Analysis

Autor: B. Leizour, Jérôme Solassol, François Iborra, Alice Faure, Louise Galmiche, Sarah Garnier, Alexia Even, G. Poinas, Thomas Blanc, P. Costa, Julie A. Vendrell, P. Ravasse, Bernard Boillot, L. Soustelle, O. Bouali, Emmanuel Chartier-Kastler, Nicolas Kalfa, Véronique Phé, Gilles Karsenty, X. Gamé

Publikováno v: Journal of Urology
Journal of Urology, Elsevier, 2020, 204 (1), pp.136-143. ⟨10.1097/JU.0000000000000752⟩

International audience; We report the natural history and prognosis of tumors after augmentation enterocystoplasty, with a molecular analysis using an oncogene panel to search for potential targeted therapies.Materials and methods: this multicenter,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d376c94c3c6ddef0e89398e5fb91d894
https://pubmed.ncbi.nlm.nih.gov/32343218

Benchmarking of Amplicon-Based Next-Generation Sequencing Panels Combined with Bioinformatics Solutions for Germline BRCA1 and BRCA2 Alteration Detection

Autor: Julie A. Vendrell, Jérôme Solassol, Charles Van Goethem, Marion Larrieux, Paul Vilquin

Publikováno v: Journal of Molecular Diagnostics
Journal of Molecular Diagnostics, American Society for Investigative Pathology (ASIP), 2018, 20 (6), pp.754-764. ⟨10.1016/j.jmoldx.2018.06.003⟩

International audience; The recent deployment of next-generation sequencing approaches in routine laboratory analysis has considerably modified the landscape of BRCA1 and BRCA2 germline alteration detection in patients with a high risk of developing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31392d29b00e1ebfd2297afe4829e52f
https://doi.org/10.1016/j.jmoldx.2018.06.003

A Tunisian family with a novel mutation in the gene CYP 4F22 for lamellar ichthyosis and co‐occurrence of hearing loss in a child due to mutation in the SLC 26A4 gene

Autor: Marwa, Sayeb, Zied, Riahi, Nadia, Laroussi, Crystel, Bonnet, Lilia, Romdhane, Rahma, Mkaouar, Anissa, Zaouak, Jihene, Marrakchi, Ghaith, Abdessalem, Olfa, Messaoud, Oussema, Bouchniba, Nacer, Ghilane, Mourad, Mokni, Ghazi, Besbes, Houda, Yacoub-Youssef, Christine, Petit, Sonia, Abdelhak

Publikováno v: International Journal of Dermatology
International Journal of Dermatology, Wiley-Blackwell, 2019, 58 (12), pp.1439-1443. ⟨10.1111/ijd.14452⟩
International Journal of Dermatology, 2019, 58 (12), pp.1439-1443. ⟨10.1111/ijd.14452⟩

International audience; Background: Co-occurrence of two genetic diseases is challenging for accurate diagnosis and genetic counseling. The recent availability of whole exome sequencing (WES) has dramatically improved the molecular diagnosis of rare

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::3125ce1e9d247b7e4b0c8558244835e3
https://hal-pasteur.archives-ouvertes.fr/pasteur-03219630