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: 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: Donata Orioli, Wim Vermeulen, Alain Sarasin, Sarah Giachetti, Silvia Bione, Jan H.J. Hoeijmakers, Anja Raams, Desirée E.C. Smith, Giuseppina Caligiuri, Marisa I. Mendes, Elena Botta, Tomoo Ogi, Arjan F. Theil, Gajja S. Salomons, Sigrid M.A. Swagemakers, Peter J. van der Spek, Luca Zardoni, Giordano Liberi, Alan R. Lehmann, Roberta Carriero

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

المصدر: American journal of human genetics, 105(2), 434-440. Cell Press
The American Journal of Human Genetics
American Journal of Human Genetics, 105(2), 434-440. Cell Press
Theil, A F, Botta, E, Raams, A, Smith, D E C, Mendes, M I, Caligiuri, G, Giachetti, S, Bione, S, Carriero, R, Liberi, G, Zardoni, L, Swagemakers, S M A, Salomons, G S, Sarasin, A, Lehmann, A, van der Spek, P J, Ogi, T, Hoeijmakers, J H J, Vermeulen, W & Orioli, D 2019, ' Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype ', American journal of human genetics, vol. 105, no. 2, pp. 434-440 . https://doi.org/10.1016/j.ajhg.2019.06.017Test

مصطلحات موضوعية: Trichothiodystrophy, Sequence Homology, Biology, Compound heterozygosity, 03 medical and health sciences, Transcription (biology), Report, Genetics, medicine, Threonine-tRNA Ligase, Humans, Trichothiodystrophy Syndromes, Amino Acid Sequence, Allele, Transcription factor, Gene, Genetics (clinical), Alleles, 030304 developmental biology, 0303 health sciences, General transcription factor, 030305 genetics & heredity, medicine.disease, Phenotype, Case-Control Studies, Mutation, Transcription factor II H, Hair Diseases, Transcription Factor TFIIH

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abe0636d65852d8e8df136ce912eec33Test
https://research.vumc.nl/en/publications/0c06edec-9ffe-44a6-b2a0-649bde87a288Test

المؤلفون: Arjan F Theil, Elena Botta, Anja Raams, Desiree E C Smith, Marisa I Mendes, Giuseppina Caligiuri, Sarah Giachetti, Silvia Bione, Roberta Carriero, Giordano Liberi, Luca Zardoni, Alan Lehmann

مصطلحات موضوعية: Biological sciences, Bioinformatics and computational biology, Genetics, Biomedical and clinical sciences, Health sciences, TTD, aminoacyl tRNA synthetase, brittle hair, non-photosensitive trichothiodystrophy, protein translation, tiger tail, transcription, Alleles, Amino Acid Sequence, Case-Control Studies, Hair Diseases, Humans, Mutation, Phenotype, Sequence Homology, Threonine-tRNA Ligase, Transcription Factor TFIIH, Trichothiodystrophy Syndromes, 31 Biological Sciences, 3102 Bioinformatics and Computational Biology, 3105 Genetics, Neurosciences, 2 Aetiology, 2.1 Biological and endogenous factors, 06 Biological Sciences

العلاقة: 10779/uos.25416217.v1; https://figshare.com/articles/journal_contribution/Bi-allelic_TARS_mutations_are_associated_with_brittle_hair_phenotype/25416217Test

الإتاحة: https://figshare.com/articles/journal_contribution/Bi-allelic_TARS_mutations_are_associated_with_brittle_hair_phenotype/25416217Test