المؤلفون: Morana Dulic, Vlatka Godinic-Mikulcic, Mario Kekez, Valentina Evic, Jasmina Rokov-Plavec

المصدر: Life, Vol 14, Iss 1, p 124 (2024)

مصطلحات موضوعية: aminoacyl-tRNA synthetase, seryl-tRNA synthetase, SARS1, translation, tRNA channeling, protein–protein interaction, Science

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2075-1729/14/1/124; https://doaj.org/toc/2075-1729

URL الوصول: https://doaj.org/article/ad4502421a924cd18be37b664e946cb3

المؤلفون: Kadri Karaer, Derya Karaer, Zafer Yüksel, Sedat Işikay

المصدر: Clinical Dysmorphology. 31:167-173

مصطلحات موضوعية: transcription factor RUNX1, genomic DNA, cerebellum, seizure, thrombocytopenia, Article, mental disease, whole exome sequencing, Pathology and Forensic Medicine, male, Seizures, Intellectual Disability, Humans, genetics, human, nuclear magnetic resonance imaging, Genetics (clinical), child, clinical article, muscle hypotonia, intellectual impairment, missense mutation, NEDMAS, Syndrome, General Medicine, electroencephalogram, Pedigree, developmental delay, karyotype, female, Neurodevelopmental Disorders, Pediatrics, Perinatology and Child Health, head circumference, Microcephaly, Ataxia, novel mutation, Anatomy, SARS1 gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cf07bfc91c3df9ca327db6dde6d4862
https://doi.org/10.1097/mcd.0000000000000426

المؤلفون: Jean-Marie Ravel, Jean-Louis Guéant, Natacha Dreumont, Marc Polivka, Jean-Baptiste Rivière, Frédéric Tran Mau-Them, Julien Thevenon, David Coelho, Gajja S. Salomons, Desirée E.C. Smith, Pauline Mosca, Emmanuelle Schmitt, Laurence Faivre, Gautam Kok, Marisa I. Mendes, Christel Thauvin-Robinet, Sabine A. Fuchs, Paul Kuentz, Arnaud Wiedemann, François Feillet

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

المصدر: Human Mutation, 42(12), 1576-1583. Wiley-Liss Inc.
Human mutation, 42(12), 1576-1583. Wiley-Liss Inc.
Ravel, J-M, Dreumont, N, Mosca, P, Smith, D E C, Mendes, M I, Wiedemann, A, Coelho, D, Schmitt, E, Rivière, J-B, Tran Mau-Them, F, Thevenon, J, Kuentz, P, Polivka, M, Fuchs, S A, Kok, G, Thauvin-Robinet, C, Guéant, J-L, Salomons, G S, Faivre, L & Feillet, F 2021, ' A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever ', Human Mutation, vol. 42, no. 12, pp. 1576-1583 . https://doi.org/10.1002/humu.24285

مصطلحات موضوعية: Ataxia, brain, Cardiomyopathy, SARS1, Loss of Heterozygosity, Biology, Amino Acyl-tRNA Synthetases, chemistry.chemical_compound, deafness, death, Genetics, medicine, Protein biosynthesis, Missense mutation, Humans, Decompensation, aminoacyl-tRNA synthetase, Child, tRNA, Genetics (clinical), aminoacylation, Aminoacyl tRNA synthetase, medicine.disease, Elongation factor, chemistry, intellectual disability, Transfer RNA, medicine.symptom, Cardiomyopathies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02c2348fc9d2866c9be5ca55eaa73a8a
https://doi.org/10.1002/humu.24285

المؤلفون: Nina Bögershausen, Hannah E. Krawczyk, Rami A. Jamra, Sheng‐Jia Lin, Gökhan Yigit, Irina Hüning, Anna M. Polo, Barbara Vona, Kevin Huang, Julia Schmidt, Janine Altmüller, Johannes Luppe, Konrad Platzer, Beate B. Dörgeloh, Andreas Busche, Saskia Biskup, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Arne Zibat, Eva Bültmann, Peter Nürnberg, Malte Spielmann, Johannes R. Lemke, Yun Li, Martin Zenker, Gaurav K. Varshney, Hauke S. Hillen, Christian P. Kratz, Bernd Wollnik

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

المصدر: Human Mutations
Human mutation, 43(10), 1454-1471. Wiley-Liss Inc.
Human Mutation, 43(10), 1454-1471. Wiley-Liss Inc.
Bögershausen, N, Krawczyk, H E, Jamra, R A, Lin, S-J, Yigit, G K, Hüning, I, Polo, A M, Vona, B, Huang, K, Schmidt, J, Altmüller, J, Luppe, J, Platzer, K, Dörgeloh, B B, Busche, A, Biskup, S, Mendes, M I, Smith, D E C, Salomons, G S, Zibat, A, Bültmann, E, Nürnberg, P, Spielmann, M, Lemke, J R, Li, Y, Zenker, M, Varshney, G K, Hillen, H S, Kratz, C P & Wollnik, B 2022, ' WARS1 and SARS1 : Two tRNA synthetases implicated in autosomal recessive microcephaly ', Human Mutation, vol. 43, no. 10, pp. 1454-1471 . https://doi.org/10.1002/humu.24430

مصطلحات موضوعية: aminoacylation, SARS1, Tryptophan-tRNA Ligase, WARS1, Amino Acyl-tRNA Synthetases, Ligases, RNA, Transfer, intellectual disability, Charcot-Marie-Tooth Disease, Genetics, Microcephaly, Animals, Humans, aminoacyl-tRNA synthetase, Technology Platforms, ARS, CRISPR/Cas9, tRNA, Genetics (clinical), Zebrafish

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85935df54049d5375dcb05087f17d26d
https://hdl.handle.net/21.11116/0000-000B-2BDE-C21.11116/0000-000B-2BE0-8

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