المؤلفون: D. Petrauskiene, E. Gaveliene, G. Babraviciene, S. Miskinyte, E. Cikanaviciute

المصدر: Clinical Nutrition ESPEN. 54:655

مصطلحات موضوعية: Nutrition and Dietetics, Endocrinology, Diabetes and Metabolism

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::68cca2b84e7c6e78edd7df46d92d9fce
https://doi.org/10.1016/j.clnesp.2022.09.577

المؤلفون: Marie-Ange Krzewinski-Recchi, S. Miskinyte, Anne Garat, François Foulquier, Alain Hovnanian, Anne-Sophie Roy

المساهمون: Unité de Glycobiologie Structurale et Fonctionnelle - UMR 8576 (UGSF), Université de Lille-Centre National de la Recherche Scientifique (CNRS), Genetic skin diseases : from disease mechanism to therapies (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Impact de l'environnement chimique sur la santé humaine - ULR 4483 (IMPECS), Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), 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 Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), CCSD, Accord Elsevier, 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), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Université de Lille, CNRS, Unité de Glycobiologie Structurale et Fonctionnelle UMR 8576 [UGSF], Genetic skin diseases : from disease mechanism to therapies [Equipe Inserm U1163], Impact de l'environnement chimique sur la santé humaine - ULR 4483 [IMPECS]

المصدر: Biochimie
Biochimie, 2020, Biochimie, 174, pp.159-170. ⟨10.1016/j.biochi.2020.04.017⟩

مصطلحات موضوعية: Keratinocytes, 0301 basic medicine, Glycosylation, Pemphigus, Benign Familial, [SDV]Life Sciences [q-bio], SPCA1, Hailey-Hailey disease, Context (language use), Calcium-Transporting ATPases, Biochemistry, Antiporters, Cell Line, 03 medical and health sciences, symbols.namesake, chemistry.chemical_compound, Golgi, medicine, Humans, Manganese sensitivity, Cation Transport Proteins, Manganese, 030102 biochemistry & molecular biology, Chemistry, General Medicine, Fibroblasts, Golgi apparatus, TMEM165, Subcellular localization, medicine.disease, Transmembrane protein, 3. Good health, Cell biology, [CHIM.THEO]Chemical Sciences/Theoretical and/or physical chemistry, [SDV] Life Sciences [q-bio], [CHIM.THEO] Chemical Sciences/Theoretical and/or physical chemistry, Cytosol, 030104 developmental biology, symbols, Congenital disorder of glycosylation, Homeostasis

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::046204da357922b6d4570c817c100f35
https://doi.org/10.1016/j.biochi.2020.04.017

المؤلفون: S. Duchatelet, Jemima E. Mellerio, Su M. Lwin, Araksya Izmiryan, Alain Hovnanian, S. Gaucher, N. Pironon, Clarisse Ganier, Alya Abdul-Wahab, John A. McGrath, S. Miskinyte, Matthias Titeux, Emmanuelle Bourrat

المصدر: British Journal of Dermatology. 182:794-797

مصطلحات موضوعية: Clinical trial, Phase i ii, business.industry, Genetic enhancement, Recessive dystrophic epidermolysis bullosa, Medicine, Dermatology, Bioinformatics, business, Gene, Ex vivo, Genetic therapy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5ad570060a7c39f1fb72b5137a02824c
https://doi.org/10.1111/bjd.18559

المؤلفون: S. Miskinyte, J. Basset, N.M. De Almeida E. Silva, D. Bessis, A. Hovnanian

المصدر: Annales de Dermatologie et de Vénéréologie - FMC. 2:A275

مصطلحات موضوعية: Ocean Engineering, Safety, Risk, Reliability and Quality

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2949baa981740f5073e058e6f8b92755
https://doi.org/10.1016/j.fander.2022.09.447

المؤلفون: R. Amode, Alain Hovnanian, Matthias Titeux, D. Darbord, E. Bourrat, N. Pironon, Marie-Dominique Vignon-Pennamen, G. Hickman, M. Bonnet-des-Claustres, Florence Cordoliani, Claire Barbieux, S. Miskinyte

المصدر: Journal of the European Academy of Dermatology and Venereology : JEADVReferences. 36(1)

مصطلحات موضوعية: Adult, medicine.medical_specialty, Collagen Type VII, Dermatology, Filaggrin Proteins, Atopy, Immunophenotyping, Medicine, Humans, Aged, Retrospective Studies, business.industry, Genodermatosis, Dystrophy, Retrospective cohort study, Middle Aged, medicine.disease, Dupilumab, Epidermolysis Bullosa Dystrophica, Infectious Diseases, Phenotype, Milia, Mutation, Epidermolysis bullosa, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2b2caab9ad6040aed3cb37e1b5bd496
https://pubmed.ncbi.nlm.nih.gov/34543471

المؤلفون: Lucienne Chatenoud, Olivier Lortholary, Alain Hovnanian, Sabine Duchatelet, Marie-Noëlle Ungeheuer, Olivier Join-Lambert, Thi Lam, Xavier Nassif, Aude Nassif, S. Miskinyte, Maïa Delage, Hélène Guet-Revillet, Hélène Coignard-Biehler

المصدر: JAAD Case Reports

مصطلحات موضوعية: medicine.medical_specialty, host-microbiome disease, HS, hidradenitis suppurativa, Case Report, bacterial metagenomics, macromolecular substances, Dermatology, 030207 dermatology & venereal diseases, 03 medical and health sciences, remission, 0302 clinical medicine, medicine, AF, acne fulminans, antibiotherapy, genetics, Hidradenitis suppurativa, acne fulminans, TNF, tumor necrosis factor, Acne fulminans, treatment, Medical treatment, business.industry, hidradenitis suppurativa, Interleukin, medicine.disease, cytokines, IL, interleukin, 3. Good health, 030220 oncology & carcinogenesis, Tumor necrosis factor alpha, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd48823317bc262d20b59ea2d07a421f
https://doi.org/10.1016/j.jdcr.2019.04.001

المؤلفون: M. Titeux, N. Pironon, C. Barbieux, G. Hickman, Emmanuelle Bourrat, M. Bonnet-des-Claustres, S. Miskinyte, D. Darbord, A. Hovnanian

المصدر: Journal of Investigative Dermatology. 141:S179

مصطلحات موضوعية: medicine.medical_specialty, DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA, medicine, Cell Biology, Dermatology, Biology, Molecular Biology, Biochemistry, Phenotype, Th1 immunity

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::af3781ce987fe187a92c15be5f89f935
https://doi.org/10.1016/j.jid.2021.08.187

لا يتم عرض هذه النتيجة على الضيوف.
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المؤلفون: Michael Antoniou, Sophia Aristodemou, Alain Hovnanian, Christos Georgiadis, Mei Chen, Su M. Lwin, M. Titeux, S. Miskinyte, Rashida Pramanik, Waseem Qasim, Lucas Chan, Rachel Phillips, Jakub Tolar, Wei Li Di, John A. McGrath, Adrian J. Thrasher, Christos Tziotzios, Linda Ozoemena, Alyson Guy, Alya Abdul-Wahab, Fiona Reid, James R. McMillan, Magdalena Martinez-Queipo, Lu Liu, Fernando Larcher, Jemima E. Mellerio, Johann W. Bauer, Patricia A. Lovell, Marcela Del Rio, Sonia Serrano, Clarisse Maurin, Anastasia Petrova, Farhatullah Syed, Alexandros Onoufriadis, Tendai Kadiyirire, Ellie Rashidghamat, Maria Elstad, Racheal Rowles, Farzin Farzaneh, John B. Mee, Elizabeth Orrin

مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, Genetic enhancement, Research & Experimental Medicine, law.invention, 0302 clinical medicine, law, COL7A1, REAL-TIME PCR, General Medicine, Middle Aged, Epidermolysis Bullosa Dystrophica, Treatment Outcome, medicine.anatomical_structure, Medicine, Research & Experimental, 030220 oncology & carcinogenesis, Recombinant DNA, Female, Life Sciences & Biomedicine, Genetic diseases, Adult, CELL THERAPY, EXPRESSION, medicine.medical_specialty, VII COLLAGEN, Collagen Type VII, Transgene, Dermatology, DIAGNOSIS, 03 medical and health sciences, Gene therapy, In vivo, Complementary DNA, Anchoring fibrils, medicine, Genetics, Humans, Fibroblast, Basement membrane, Science & Technology, business.industry, TRANSPLANTATION, Lentivirus, KERATINOCYTES, Genetic Therapy, Fibroblasts, 030104 developmental biology, Clinical Medicine, INJECTION, business, SKIN

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3df16e09632564610c72d70991aa6380
http://hdl.handle.net/10044/1/74451

المؤلفون: H. Clerc, S. Miskinyte, P. Gaboriaud, Alain Hovnanian, S. Duchatelet, Thibault Kervarrec, Laurent Machet

المساهمون: Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de dermatologie, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Infectiologie et Santé Publique (UMR ISP), Institut National de la Recherche Agronomique (INRA)-Université de Tours (UT), Service de Pathologie, Hôpital René HUGUENIN (Saint-Cloud)-Institut Curie [Paris], University Hospital of Würzburg, Service de génétique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Recherche Agronomique (INRA)-Université de Tours

المصدر: Journal of the European Academy of Dermatology and Venereology
Journal of the European Academy of Dermatology and Venereology, Wiley, 2018, 32 (12), pp.e440-e442. ⟨10.1111/jdv.14958⟩

مصطلحات موضوعية: 0301 basic medicine, Dowling-Degos Disease, Skin Diseases, Papulosquamous, media_common.quotation_subject, Nonsense, Nonsense mutation, Dermatology, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Hyperpigmentation, Humans, Medicine, Gene, ComputingMilieux_MISCELLANEOUS, media_common, Genetics, business.industry, Siblings, Skin Diseases, Genetic, Middle Aged, 030104 developmental biology, Infectious Diseases, Codon, Nonsense, Glucosyltransferases, Female, business, Genetic diagnosis, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c54a6bb81b5a8376476705e29686bd52
https://hal.inrae.fr/hal-02621635