المؤلفون: Johanne Dubail, Valérie Cormier-Daire

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: chondrodysplasia, dislocations, glycosaminoglycan, congenital disorder of glycosylation, genotype-phenotype correlation, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.642097/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/8d9b54ae66e74e8e9f61b2343023aefd

المؤلفون: Johanne Dubail, Céline Huber, Sandrine Chantepie, Stephan Sonntag, Beyhan Tüysüz, Ercan Mihci, Christopher T. Gordon, Elisabeth Steichen-Gersdorf, Jeanne Amiel, Banu Nur, Irene Stolte-Dijkstra, Albertien M. van Eerde, Koen L. van Gassen, Corstiaan C. Breugem, Alexander Stegmann, Caroline Lekszas, Reza Maroofian, Ehsan Ghayoor Karimiani, Arnaud Bruneel, Nathalie Seta, Arnold Munnich, Dulce Papy-Garcia, Muriel De La Dure-Molla, Valérie Cormier-Daire

المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-15 (2018)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/8bfb274a0fb7436e88718ddd08909e66

المؤلفون: Walid Haouari, Johanne Dubail, Christian Poüs, Valérie Cormier-Daire, Arnaud Bruneel

المصدر: Genes, Vol 12, Iss 11, p 1654 (2021)

مصطلحات موضوعية: bikunin, CDG, linkeropathies, GAG, proteoglycans, skeletal dysplasia, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/12/11/1654; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/657dafd9e1514c6b843b83717c3b0213

المؤلفون: Céline Hendricks, Johanne Dubail, Laura Brohée, Yves Delforge, Alain Colige, Christophe Deroanne

المصدر: PLoS ONE, Vol 11, Iss 10, p e0165153 (2016)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5087894?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/abc3ba1ae57741789629974f05bf0f3a

المؤلفون: Alessandra Guasto, Johanne Dubail, Sergio Aguilera-Albesa, Chiara Paganini, Catherine Vanhulle, Walid Haouari, Nerea Gorría-Redondo, Elena Aznal-Sainz, Nathalie Boddaert, Laura Planas-Serra, Agatha Schlüter, Valentina Vélez-Santamaría, Edgard Verdura, Arnaud Bruneel, Antonio Rossi, Céline Huber, Aurora Pujol, Valérie Cormier-Daire

المصدر: Brain. 145:3711-3722

مصطلحات موضوعية: Sulfate Transporters, Intellectual Disability, Homozygote, Exome Sequencing, Humans, Proteoglycans, RNA, Messenger, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::590ed2c292252c9e2bf89ddcd27ee5f5
https://doi.org/10.1093/brain/awac110

المؤلفون: Laure Delhon, Zakaria Mougin, Jérémie Jonquet, Angélique Bibimbou, Johanne Dubail, Cynthia Bou-Chaaya, Nicolas Goudin, Wilfried Le Goff, Catherine Boileau, Valérie Cormier-Daire, Carine Le Goff

المصدر: Human molecular genetics. 31(22)

مصطلحات موضوعية: Mice, Bone Diseases, Developmental, Osteogenesis, Fibrillin-1, Mutation, Genetics, Limb Deformities, Congenital, Animals, Humans, General Medicine, Molecular Biology, Genetics (clinical), Marfan Syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52569c97bc9405824c13eb630552928b
https://pubmed.ncbi.nlm.nih.gov/35660865

المؤلفون: Zoé Durin, Johanne Dubail, Aurore Layotte, Dominique Legrand, Valérie Cormier-Daire, François Foulquier

المساهمون: Université de Lille, LillOA, APPEL À PROJETS GÉNÉRIQUE 2018 - Des dysplasies squelettiques à la synthèse des GAG : rôle de SLC10A7 - - SKELGAG2018 - ANR-18-CE14-0040 - AAPG2018 - VALID, Unité de Glycobiologie Structurale et Fonctionnelle - UMR 8576 (UGSF), Université de Lille-Centre National de la Recherche Scientifique (CNRS), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), ANR-18-CE14-0040,SKELGAG,Des dysplasies squelettiques à la synthèse des GAG : rôle de SLC10A7(2018), Université de Lille, CNRS, Unité de Glycobiologie Structurale et Fonctionnelle (UGSF) - UMR 8576, Imagine - Institut des maladies génétiques [IMAGINE - U1163]

المصدر: Human Genetics
Human Genetics, 2022, 141 (7), pp.1287-1298. ⟨10.1007/s00439-021-02420-x⟩

مصطلحات موضوعية: Glycosylation, Symporters, Amelogenesis Imperfecta, Organic Anion Transporters, Sodium-Dependent, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Osteochondrodysplasias, carbohydrates (lipids), Congenital Disorders of Glycosylation, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Genetics, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Genetics (clinical), Glycosaminoglycans

وصف الملف: application/pdf; application/octet-stream

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79e8198b6a307e547a029875a9029755
https://doi.org/10.1007/s00439-021-02420-x

المؤلفون: Arnaud Bruneel, Walid Haouari, Johanne Dubail, Nathalie Seta, Pierre Prada, Charles Roseau, Valérie Cormier-Daire, Estelle Colin, Céline Huber, François Foulquier, Samra Lounis-Ouaras, Sandrine Vuillaumier-Barrot, Christian Poüs, Rizk Bennani, Alexandra Afenjar

المساهمون: Physiopathologie et traitement des maladies du foie, Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Unité de Glycobiologie Structurale et Fonctionnelle (UGSF), Université de Lille-Centre National de la Recherche Scientifique (CNRS)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), ANR-15-RAR3-0004,EURO-CDG-2,A European research network directed towards improving diagnosis and treatment of inborn glycosylation disorders.(2015), European Project: 643578,H2020,H2020-HCO-2014,E-Rare-3(2014), Unité de Glycobiologie Structurale et Fonctionnelle - UMR 8576 (UGSF), Université de Lille-Centre National de la Recherche Scientifique (CNRS)

المصدر: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 2020, Journal of Inherited Metabolic Disease, 43 (6), pp.1349-1359. ⟨10.1002/jimd.12291⟩

مصطلحات موضوعية: Gene isoform, congenital, hereditary, and neonatal diseases and abnormalities, Glycosylation, [SDV]Life Sciences [q-bio], linkeropathies, Golgi Apparatus, Context (language use), Antiporters, Glycosaminoglycan, 03 medical and health sciences, symbols.namesake, chemistry.chemical_compound, Congenital Disorders of Glycosylation, Alpha-Globulins, Genetics, Humans, Protein Isoforms, inter‐α‐trypsin inhibitor, Chondroitin sulfate, Cation Transport Proteins, Genetics (clinical), 030304 developmental biology, chemistry.chemical_classification, 0303 health sciences, bikunin, 030305 genetics & heredity, Golgi apparatus, 3. Good health, Enzyme, Biochemistry, chemistry, TMEM165, GAG tetrasaccharide, Nucleotide Transport Proteins, symbols, CDG, SLC35A3, Glycoprotein, Biomarkers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbe4fd1adfa7fa23c73e6f2c2f205ba0
https://hal.univ-lille.fr/hal-03178964

المؤلفون: Pascale Chavassieux, Vicken Topouchian, Sophie Monnot, Valérie Cormier-Daire, Caroline Michot, Céline Huber, Geneviève Baujat, Perrine Brunelle, Johanne Dubail, Eugénie Koumakis, Mathilde Doyard, Abdeslam Khairouni

مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, business.industry, Osteogenesis imperfecta, Internal medicine, Medicine, business, medicine.disease, Loss function

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1870487659eb62507a10e6bcd52df5c1
https://doi.org/10.1002/jbmr.4011/v3/response1

المؤلفون: Grégory Ehx, Lauriane Janssen, Marc Thiry, Laura Dupont, Johanne Dubail, Christine Monseur, Didier Cataldo, Cédric Leduc, Betty Nusgens, Frédéric Baron, Christine Jérôme, Alain Colige, Jean-Michel Thomassin, Mathilde Chantry

المصدر: Matrix Biology. 70:140-157

مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, medicine.medical_specialty, T-Lymphocytes, Cellular differentiation, Biology, medicine.disease_cause, Dermatitis, Atopic, Extracellular matrix, Mice, 03 medical and health sciences, ADAMTS Proteins, Immune system, Dermis, Cell Movement, Transforming Growth Factor beta, medicine, Animals, Molecular Biology, Mice, Knockout, 030102 biochemistry & molecular biology, ADAMTS, Cell Differentiation, Immune dysregulation, Immunity, Innate, Extracellular Matrix, Isoenzymes, ADAMTS2, Procollagen peptidase, 030104 developmental biology, medicine.anatomical_structure, Gene Expression Regulation, Female, Epidermis, Procollagen, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2415347d449284bfc9ad007b585daf2c
https://doi.org/10.1016/j.matbio.2018.04.002