Antibody-mediated neutralization of galectin-3 as a strategy for the treatment of systemic sclerosis.

Autor: Ortega-Ferreira C; Servier R&D Center, Biomarker Assay Development, Translational Medicine, Gif-sur-Yvette, France., Soret P; Servier R&D Center, Biomarker Biostatistics, Gif-sur-Yvette, France., Robin G; Mabqi SAS, Montpellier, France., Speca S; U1286 INFINITE, Institute for Translational Research in Inflammation, Lille University, Gif-sur-Yvette, France.; Inserm, Lille, France., Hubert S; Servier R&D Center, Neurosciences and Immuno-inflammation Therapeutic Area, Gif-sur-Yvette, France., Le Gall M; Mabqi SAS, Montpellier, France., Desvaux E; Servier R&D Center, Neurosciences and Immuno-inflammation Therapeutic Area, Gif-sur-Yvette, France., Jendoubi M; U1286 INFINITE, Institute for Translational Research in Inflammation, Lille University, Gif-sur-Yvette, France.; Inserm, Lille, France., Saint-Paul J; Mabqi SAS, Montpellier, France., Chadli L; Servier R&D Center, Clinical Biomarker Development, Translational Medicine, Gif-sur-Yvette, France., Chomel A; Servier R&D Center, Protein Sciences, Gif-sur-Yvette, France., Berger S; Servier R&D Center, Structural Sciences, Gif-sur-Yvette, France., Nony E; Servier R&D Center, Protein Sciences, Gif-sur-Yvette, France., Neau B; Servier R&D Center, Preclinical Biostatistics, Quantitative Pharmacology, Gif-sur-Yvette, France., Fould B; Servier R&D Center, Protein Sciences, Gif-sur-Yvette, France., Licznar A; Servier R&D Center, DMPK Department, Translational Medicine, Gif-sur-Yvette, France., Levasseur F; Servier R&D Center, DMPK Department, Translational Medicine, Gif-sur-Yvette, France., Guerrier T; U1286 INFINITE, Institute for Translational Research in Inflammation, Lille University, Gif-sur-Yvette, France.; Inserm, Lille, France., Elouej S; Servier R&D Center, Computational Medicine, Gif-sur-Yvette, France., Courtade-Gaïani S; Servier R&D Center, Computational Medicine, Gif-sur-Yvette, France., Provost N; Servier R&D Center, Molecular Genomics, Gif-sur-Yvette, France., Nguyen TQ; Servier R&D Center, Structural Sciences, Gif-sur-Yvette, France., Verdier J; Servier R&D Center, Neurosciences and Immuno-inflammation Therapeutic Area, Gif-sur-Yvette, France., Launay D; U1286 INFINITE, Institute for Translational Research in Inflammation, Lille University, Gif-sur-Yvette, France.; Inserm, Lille, France.; Lille University Hospital, Department of Internal Medicine and Clinical Immunology, Reference Center for Rare Systemic Autoimmune Diseases, North and North-West France (CeRAINO), Lille, France., De Ceuninck F; Servier R&D Center, Neurosciences and Immuno-inflammation Therapeutic Area, Gif-sur-Yvette, France. frederic.deceuninck@servier.com.

Publikováno v: Nature communications [Nat Commun] 2023 Aug 31; Vol. 14 (1), pp. 5291. Date of Electronic Publication: 2023 Aug 31.

P158 Heterozygous SPTAN1 frameshift mutations cause distal myopathy with neurogenic features

Autor: De Winter, J., Van de Vondel, L., Bonne, G., Stojkovic, T., Elouej, S., Grandi, F., Smeriglio, P., Palmio, J., Johari, M., Hackman, P., Savarese, M., Udd, B., Meyer, A., Nicolau, S., Flanigan, K., Waldrop, M., Longman, C., Diaz-Manera, J., Töpf, A., Baets, J.

Publikováno v: In Neuromuscular Disorders October 2023 33 Supplement 1:S139-S139

A Rare MSH2 Variant as a Candidate Marker for Lynch Syndrome II Screening in Tunisia: A Case of Diffuse Gastric Carcinoma.

Autor: Kabbage M; Department of Human and Experimental Pathology, Institut Pasteur de Tunis, Tunis 1002, Tunisia.; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis EL Manar University, Tunis 1002, Tunisia., Ben Aissa-Haj J; Department of Human and Experimental Pathology, Institut Pasteur de Tunis, Tunis 1002, Tunisia.; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis EL Manar University, Tunis 1002, Tunisia., Othman H; Sydney Brenner Institute for Molecular Bioscience, University of the Witwatersrand, Johannesburg 2000, South Africa., Jaballah-Gabteni A; Department of Human and Experimental Pathology, Institut Pasteur de Tunis, Tunis 1002, Tunisia.; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis EL Manar University, Tunis 1002, Tunisia., Laarayedh S; Department of Human and Experimental Pathology, Institut Pasteur de Tunis, Tunis 1002, Tunisia.; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis EL Manar University, Tunis 1002, Tunisia., Elouej S; Marseille Medical Genetics, Aix Marseille University, INSERM, 13007 Marseille, France., Medhioub M; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis EL Manar University, Tunis 1002, Tunisia.; Gastroenterology Department, Mohamed Tahar Maamouri Hospital, Nabeul 8000, Tunisia., Kettiti HT; Department of Human and Experimental Pathology, Institut Pasteur de Tunis, Tunis 1002, Tunisia.; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis EL Manar University, Tunis 1002, Tunisia., Khsiba A; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis EL Manar University, Tunis 1002, Tunisia.; Gastroenterology Department, Mohamed Tahar Maamouri Hospital, Nabeul 8000, Tunisia., Mahmoudi M; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis EL Manar University, Tunis 1002, Tunisia.; Gastroenterology Department, Mohamed Tahar Maamouri Hospital, Nabeul 8000, Tunisia., BelFekih H; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis EL Manar University, Tunis 1002, Tunisia.; Department of Oncology, Mohamed Tahar Maamouri Hospital, Nabeul 8000, Tunisia., Maaloul A; Department of Human and Experimental Pathology, Institut Pasteur de Tunis, Tunis 1002, Tunisia., Touinsi H; Department of Surgery, Mohamed Tahar Maamouri Hospital, Nabeul 8000, Tunisia., Hamzaoui L; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis EL Manar University, Tunis 1002, Tunisia.; Gastroenterology Department, Mohamed Tahar Maamouri Hospital, Nabeul 8000, Tunisia., Chelbi E; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis EL Manar University, Tunis 1002, Tunisia.; Department of Pathology, Mohamed Tahar Maamouri Hospital, Nabeul 8000, Tunisia., Abdelhak S; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis EL Manar University, Tunis 1002, Tunisia., Boubaker MS; Department of Human and Experimental Pathology, Institut Pasteur de Tunis, Tunis 1002, Tunisia.; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis EL Manar University, Tunis 1002, Tunisia., Azzouz MM; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis EL Manar University, Tunis 1002, Tunisia.; Gastroenterology Department, Mohamed Tahar Maamouri Hospital, Nabeul 8000, Tunisia.

Publikováno v: Genes [Genes (Basel)] 2022 Jul 28; Vol. 13 (8). Date of Electronic Publication: 2022 Jul 28.

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.

Autor: Elouej S; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France., Harhouri K; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France., Le Mao M; MitoLab, Mitochondrial Medicine Research Centre, Institut MITOVASC, CNRS UMR 6015, INSERM U1083, Université d'Angers, CHU d'Angers, Angers, France., Baujat G; Department of Medical Genetics, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, IMAGINE Institute, Necker Enfants Malades Hospital, Paris, France., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, AIMS Ponekkara PO Cochin, Kerala, India., Kayserili H; Medical Genetics Department, Koç University, School of Medicine (KUSoM), Istanbul, Turkey., Menabawy NA; Neurology and Metabolic Division, Cairo University Children Hospital, Cairo, Egypt., Selim L; Neurology and Metabolic Division, Cairo University Children Hospital, Cairo, Egypt., Paneque AL; Medical Genetics Service Specialties Hospital FF AA No.1, Quito, Ecuador., Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Rubinsztajn R; Pole of Anesthesiology and Reanimation, Necker Enfants Malades Hospital, Paris, France., Charar C; Department of Genetics, Institute of Life Sciences, Hebrew University of Jerusalem, Jerusalem, Israel., Bartoli C; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France., Airault C; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France., Deleuze JF; Centre National de Recherche en Génomique Humaine (CNRGH) and Centre d'Etude du Polymorphisme Humain (CEPH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay and Fondation Jean Dausset, Paris, France., Rötig A; INSERM UMR1163, Institut Imagine, Paris, France., Bauer P; CENTOGENE AG, Rostock, Germany., Pereira C; CENTOGENE AG, Rostock, Germany., Loh A; Institute of Medical Biology, A*STAR, Singapore, Singapore., Escande-Beillard N; Medical Genetics Department, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.; Institute of Medical Biology, A*STAR, Singapore, Singapore., Muchir A; Sorbonne Université, INSERM, Institute of Myology, Center of Research in Myology, Paris, France., Martino L; CeleScreen SAS, Paris, France., Gruenbaum Y; Department of Genetics, Institute of Life Sciences, Hebrew University of Jerusalem, Jerusalem, Israel., Lee SH; CeleScreen SAS, Paris, France., Manivet P; CeleScreen SAS, Paris, France.; APHP, Biobank Lariboisière BB-0033-00064, Platform of BioPathology and Innovative Technologies in Health, Hôpital Lariboisière, Paris, France.; INSERM UMR1141 « NeuroDiderot », Université de Paris, Paris, France., Lenaers G; MitoLab, Mitochondrial Medicine Research Centre, Institut MITOVASC, CNRS UMR 6015, INSERM U1083, Université d'Angers, CHU d'Angers, Angers, France., Reversade B; Medical Genetics Department, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.; Institute of Medical Biology, A*STAR, Singapore, Singapore., Lévy N; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.; Department of Medical Genetics, La Timone Children's Hospital, Marseille, France., De Sandre-Giovannoli A; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France. annachiara.desandre-giovannoli@univ-amu.fr.; Department of Medical Genetics, La Timone Children's Hospital, Marseille, France. annachiara.desandre-giovannoli@univ-amu.fr.; Biological Resource Center (CRB-TAC), Assistance Publique Hôpitaux de Marseille, La Timone Children's Hospital, Marseille, France. annachiara.desandre-giovannoli@univ-amu.fr.

Publikováno v: Nature communications [Nat Commun] 2020 Sep 11; Vol. 11 (1), pp. 4589. Date of Electronic Publication: 2020 Sep 11.

DISTAL MYOPATHIES: EP.75 Functional validation of a novel variant of the SPTAN1 gene identified in a family with distal motor myopathy with nerve involvement

Autor: Elouej, S., Nelson, I., Cohen, E., Yaou, R. Ben, Isapof, A., Dubourg, O., Romero, N., Bonne, G., Biferi, M., Stojkovic, T.

Publikováno v: In Neuromuscular Disorders October 2021 31 Supplement 1:S72-S72