المؤلفون: Gaojie Zhu, Fatima Khalid, Danhui Zhang, Zhouli Cao, Pallab Maity, Hans A. Kestler, Donata Orioli, Karin Scharffetter-Kochanek, Sebastian Iben

المصدر: Cells, Vol 12, Iss 14, p 1877 (2023)

مصطلحات موضوعية: ribosome, trichothiodystrophy, translational infidelity, loss of proteostasis, Cytology, QH573-671

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4409/12/14/1877Test; https://doaj.org/toc/2073-4409Test

الوصول الحر: https://doaj.org/article/dfec31c8717c48afb3e92c54f7db1d10Test

المؤلفون: Donata Orioli, Elena Dellambra

المصدر: Cells, Vol 7, Iss 12, p 268 (2018)

مصطلحات موضوعية: skin, stem cells, epigenetic mechanisms, aging, progeroid syndromes, premature aging syndromes, Cytology, QH573-671

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4409/7/12/268Test; https://doaj.org/toc/2073-4409Test

الوصول الحر: https://doaj.org/article/374d5e56b09e410896d19837bf8ba276Test

المؤلفون: Lavinia Arseni, Anita Lombardi, Donata Orioli

المصدر: International Journal of Molecular Sciences, Vol 19, Iss 5, p 1407 (2018)

مصطلحات موضوعية: collagen, extracellular matrix, skin defects, bone fragility, muscle weakness, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: http://www.mdpi.com/1422-0067/19/5/1407Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/66326b1b2d044180a45709d54186b21cTest

المؤلفون: Elena Botta, Arjan F Theil, Anja Raams, Giuseppina Caligiuri, Sarah Giachetti, Silvia Bione, Maria Accadia, Anita Lombardi, Desiree E C Smith, Marisa I Mendes, Sigrid M A Swagemakers, Peter J Van Der Spek, Gajja S Salomons, Jan H J Hoeijmakers, Dhanya Yesodharan, Sheela Nampoothiri, Tomoo Ogi, Alan Lehmann, Donata Orioli, Wim Vermeulen

مصطلحات موضوعية: Uncategorised value

العلاقة: 10779/uos.23486783.v1; https://figshare.com/articles/journal_contribution/Protein_instability_associated_with_AARS1_and_MARS1_mutations_causes_trichothiodystrophy/23486783Test

الإتاحة: https://figshare.com/articles/journal_contribution/Protein_instability_associated_with_AARS1_and_MARS1_mutations_causes_trichothiodystrophy/23486783Test

المؤلفون: Manuela Lanzafame, Giulia Branca, Claudia Landi, Mingyue Qiang, Bruno Vaz, Tiziana Nardo, Debora Ferri, Manuela Mura, Sebastian Iben, Miria Stefanini, Fiorenzo A Peverali, Luca Bini, Donata Orioli

المساهمون: Lanzafame, Manuela, Branca, Giulia, Landi, Claudia, Qiang, Mingyue, Vaz, Bruno, Nardo, Tiziana, Ferri, Debora, Mura, Manuela, Iben, Sebastian, Stefanini, Miria, A Peverali, Fiorenzo, Bini, Luca, Orioli, Donata

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34581821; info:eu-repo/semantics/altIdentifier/wos/WOS:000720750900014; volume:49; issue:19; firstpage:10911; lastpage:10930; numberofpages:20; journal:NUCLEIC ACIDS RESEARCH; http://hdl.handle.net/11365/1167715Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85120713618; https://pubmed.ncbi.nlm.nih.gov/34581821Test/; https://academic.oup.com/nar/article/49/19/10911/6377400Test

الإتاحة: https://doi.org/10.1093/nar/gkab819Test
http://hdl.handle.net/11365/1167715Test
https://pubmed.ncbi.nlm.nih.gov/34581821Test/
https://academic.oup.com/nar/article/49/19/10911/6377400Test

المؤلفون: Donata Orioli, Maria Accadia, Anja Raams, Sarah Giachetti, Sigrid M.A. Swagemakers, Wim Vermeulen, Dhanya Yesodharan, Arjan F. Theil, Giuseppina Caligiuri, Elena Botta, Alan R. Lehmann, Desirée E.C. Smith, Tomoo Ogi, Marisa I. Mendes, Sheela Nampoothiri, Silvia Bione, Gajja S. Salomons, Anita Lombardi, Peter J. van der Spek, Jan H.J. Hoeijmakers

المساهمون: Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D), Molecular Genetics, Pathology, Laboratory Genetic Metabolic Diseases, ANS - Amsterdam Neuroscience

المصدر: Human Molecular Genetics, 30(18), 1711-1720. Oxford University Press
Botta, E, Theil, A F, Raams, A, Caligiuri, G, Giachetti, S, Bione, S, Accadia, M, Lombardi, A, Smith, D E C, Mendes, M I, Swagemakers, S M A, van der Spek, P J, Salomons, G S, Hoeijmakers, J H J, Yesodharan, D, Nampoothiri, S, Ogi, T, Lehmann, A R, Orioli, D & Vermeulen, W 2021, ' Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy ', Human Molecular Genetics, vol. 30, no. 18, pp. 1711-1720 . https://doi.org/10.1093/hmg/ddab123Test
Human molecular genetics, 30(18), 1711-1720. Oxford University Press
Human Molecular Genetics

مصطلحات موضوعية: AcademicSubjects/SCI01140, Premature aging, Trichothiodystrophy, Methionine-tRNA Ligase, Biology, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Transcription (biology), Enzyme Stability, Gene expression, Genetics, medicine, Humans, Trichothiodystrophy Syndromes, Child, Molecular Biology, Gene, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Mutation, Whole Genome Sequencing, Alanine-tRNA Ligase, Translation (biology), General Medicine, medicine.disease, Female, General Article, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b80ac1532350b23f224d8cc845fca680Test
http://www.scopus.com/inward/record.url?scp=85115957950&partnerID=8YFLogxKTest

المؤلفون: Manuela Lanzafame, Tiziana Nardo, Roberta Ricotti, Chiara Pantaleoni, Stefano D'Arrigo, Franco Stanzial, Francesco Benedicenti, Mary A. Thomas, Miria Stefanini, Donata Orioli, Elena Botta

المصدر: Human mutationREFERENCES. 43(12)

مصطلحات موضوعية: Genetics, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3978e53617103a84dd1f86beff2596dTest
https://pubmed.ncbi.nlm.nih.gov/36259739Test

المؤلفون: Giulia Branca, Miria Stefanini, Bruno Vaz, Fiorenzo A. Peverali, Tiziana Nardo, Manuela Mura, Manuela Lanzafame, Donata Orioli, Mingyue Qiang, Debora Ferri, Sebastian Iben, Luca Bini, Claudia Landi

المصدر: Nucleic Acids Research

مصطلحات موضوعية: Ribosomal Proteins, Chromatin Immunoprecipitation, DNA Repair, Transcription, Genetic, Cell Survival, Ultraviolet Rays, AcademicSubjects/SCI00010, Cockayne syndrome, Ribosomal protein, Transcription (biology), RNA Polymerase I, Genetics, medicine, RNA polymerase I, Humans, Cockayne Syndrome, Poly-ADP-Ribose Binding Proteins, Cell Line, Transformed, biology, Gene regulation, Chromatin and Epigenetics, DNA Helicases, Ferrochelatase, Fibroblasts, medicine.disease, RRNA transcription, Chromatin, Cell biology, DNA Repair Enzymes, Gene Expression Regulation, RNA, Ribosomal, biology.protein, Nucleotide excision repair, DNA Damage, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa2d7c0513cc6738d5c3d85eb6e5d84fTest
https://pubmed.ncbi.nlm.nih.gov/34581821Test

المؤلفون: Anita, Lombardi, Lavinia, Arseni, Roberta, Carriero, Emmanuel, Compe, Elena, Botta, Debora, Ferri, Martina, Uggè, Giuseppe, Biamonti, Fiorenzo A, Peverali, Silvia, Bione, Donata, Orioli

المصدر: Proc Natl Acad Sci U S A

مصطلحات موضوعية: Xeroderma Pigmentosum, Transcription, Genetic, Ultraviolet Rays, Gene Expression Profiling, Fibroblasts, Biological Sciences, Epoprostenol, Mice, Cytochrome P-450 Enzyme System, Gene Expression Regulation, Neoplasms, Animals, Trichothiodystrophy Syndromes, Cells, Cultured, Skin

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::335a5f7eb05783df37a82472b3ef4b77Test
https://pubmed.ncbi.nlm.nih.gov/34155103Test

المؤلفون: Emmanuel Compe, Roberta Carriero, Anita Lombardi, Elena Botta, Martina Uggè, Silvia Bione, Lavinia Arseni, Giuseppe Biamonti, Donata Orioli, Fiorenzo A. Peverali, Debora Ferri

المصدر: Proceedings of the National Academy of Sciences. 118

مصطلحات موضوعية: Multidisciplinary, Transcription Factor TFIIH, Xeroderma pigmentosum, Transcription (biology), DNA repair, medicine, Trichothiodystrophy, Transcription factor II H, ERCC2, Biology, medicine.disease, Molecular biology, Nucleotide excision repair

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::861916b43e50e2190ad46cfcd2ec61f2Test
https://doi.org/10.1073/pnas.2024502118Test