المؤلفون: Yılmaz M; Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey., Kamaşak T; Department of Pediatric Neurology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey., Teralı K; Department of Medical Biochemistry, Faculty of Medicine, Cyprus International University, Nicosia, Cyprus., Çebi AH; Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey., Türkyılmaz A; Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 May; Vol. 194 (5), pp. e63535. Date of Electronic Publication: 2024 Jan 08.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/genetics , Intellectual Disability*/diagnosis, Humans ; AlkB Homolog 8, tRNA Methyltransferase/genetics ; Developmental Disabilities/genetics ; Mutation, Missense/genetics ; Phenotype ; RNA, Transfer/genetics

المؤلفون: Maddirevula S; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia., Alameer S; Department of Pediatrics, Ministry of the National Guard-Health Affairs, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia., Ewida N; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia., de Sousa MML; Department of Clinical and Molecular Medicine, Norwegian University of Science and Technology, 7491, Trondheim, Norway., Bjørås M; Department of Clinical and Molecular Medicine, Norwegian University of Science and Technology, 7491, Trondheim, Norway., Vågbø CB; Department of Clinical and Molecular Medicine, Norwegian University of Science and Technology, 7491, Trondheim, Norway.; Proteomics and Modomics Experimental Core and St. Olavs Hospital Central Staff, Trondheim, Norway., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia. FAlKuraya@kfshrc.edu.sa.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, 11533, Saudi Arabia. FAlKuraya@kfshrc.edu.sa.

المصدر: Human genetics [Hum Genet] 2022 Feb; Vol. 141 (2), pp. 209-215. Date of Electronic Publication: 2021 Nov 10.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense*, AlkB Homolog 8, tRNA Methyltransferase/*genetics , Developmental Disabilities/*genetics , Intellectual Disability/*genetics, AlkB Homolog 8, tRNA Methyltransferase/chemistry ; AlkB Homolog 8, tRNA Methyltransferase/metabolism ; Amino Acid Sequence ; Child ; Consanguinity ; Conserved Sequence ; Developmental Disabilities/enzymology ; Female ; Homozygote ; Humans ; Intellectual Disability/enzymology ; Male ; Microcephaly/genetics ; Models, Molecular ; Pedigree ; RNA Processing, Post-Transcriptional ; Seizures/genetics

المؤلفون: Dai Z; Australian Infectious Disease Research Centre, School of Biological Sciences, The University of Queensland, Brisbane, Queensland, Australia., Asgari S; Australian Infectious Disease Research Centre, School of Biological Sciences, The University of Queensland, Brisbane, Queensland, Australia.

المصدر: Insect molecular biology [Insect Mol Biol] 2023 Oct; Vol. 32 (5), pp. 461-468. Date of Electronic Publication: 2023 Apr 29.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Blackwell Scientific For The Royal Entomological Society Country of Publication: England NLM ID: 9303579 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2583 (Electronic) Linking ISSN: 09621075 NLM ISO Abbreviation: Insect Mol Biol Subsets: MEDLINE

مواضيع طبية MeSH: Drosophila melanogaster* , RNA*, Humans ; Animals ; Insecta/genetics ; Mammals ; AlkB Homolog 8, tRNA Methyltransferase

المؤلفون: Leonardi A; Department of Nanoscale Science and Engineering, University at Albany , Albany, NY, USA., Kovalchuk N; College of Pharmacy, Department of Toxicology and Pharmacology, University of Arizona , Tucson, AZ, USA., Yin L; College of Pharmacy, Department of Toxicology and Pharmacology, University of Arizona , Tucson, AZ, USA., Endres L; College of Arts and Sciences, SUNY Polytechnic Institute , Utica, NY, USA.; The RNA Institute, University at Albany , Albany, NY, USA., Evke S; Nanoscale Science Constellation, SUNY Polytechnic Institute , Albany, NY, USA., Nevins S; Nanoscale Science Constellation, SUNY Polytechnic Institute , Albany, NY, USA., Martin S; Department of Biological Sciences, University at Albany , Albany, NY, USA., Dedon PC; Department of Biological Engineering, Massachusetts Institute of Technology , Cambridge, MA, USA.; Antimicrobial Resistance Interdisciplinary Research Group, Singapore-MIT Alliance for Research and Technology , Singapore., Melendez JA; The RNA Institute, University at Albany , Albany, NY, USA.; Nanoscale Science Constellation, SUNY Polytechnic Institute , Albany, NY, USA., Van Winkle L; Center for Health and the Environment, University of California Davis , Davis, CA, USA., Zhang QY; College of Pharmacy, Department of Toxicology and Pharmacology, University of Arizona , Tucson, AZ, USA., Ding X; College of Pharmacy, Department of Toxicology and Pharmacology, University of Arizona , Tucson, AZ, USA., Begley TJ; The RNA Institute, University at Albany , Albany, NY, USA.; Department of Biological Sciences, University at Albany , Albany, NY, USA.

المصدر: Epigenetics [Epigenetics] 2020 Oct; Vol. 15 (10), pp. 1121-1138. Date of Electronic Publication: 2020 Apr 17.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 101265293 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-2308 (Electronic) Linking ISSN: 15592294 NLM ISO Abbreviation: Epigenetics Subsets: MEDLINE

مواضيع طبية MeSH: Epigenesis, Genetic* , Oxidative Stress* , Transcriptome*, Air Pollutants/*toxicity , AlkB Homolog 8, tRNA Methyltransferase/*metabolism , Lung/*metabolism , Naphthalenes/*toxicity, AlkB Homolog 8, tRNA Methyltransferase/genetics ; Animals ; Cytochrome P-450 Enzyme System/genetics ; Drug Resistance ; Lung/drug effects ; Male ; Mice ; Mice, Inbred C57BL ; RNA Processing, Post-Transcriptional ; Thioredoxin-Disulfide Reductase/genetics ; Thioredoxin-Disulfide Reductase/metabolism

المؤلفون: Aherrahrou R; Center for Public Health Genomics, University of Virginia, Charlottesville (R.A., R.N.P., Y.T.A., M.D.K., J.Y.S., D.W., J.H., G.M.S., C.L.M., M.C.)., Lue D; Department of Biomedical Engineering, University of Virginia, Charlottesville (D.L., R.N.P., Y.T.A., J.Y.S., M.C.)., Perry RN; Center for Public Health Genomics, University of Virginia, Charlottesville (R.A., R.N.P., Y.T.A., M.D.K., J.Y.S., D.W., J.H., G.M.S., C.L.M., M.C.).; Department of Biomedical Engineering, University of Virginia, Charlottesville (D.L., R.N.P., Y.T.A., J.Y.S., M.C.)., Aberra YT; Center for Public Health Genomics, University of Virginia, Charlottesville (R.A., R.N.P., Y.T.A., M.D.K., J.Y.S., D.W., J.H., G.M.S., C.L.M., M.C.).; Department of Biomedical Engineering, University of Virginia, Charlottesville (D.L., R.N.P., Y.T.A., J.Y.S., M.C.)., Khan MD; Center for Public Health Genomics, University of Virginia, Charlottesville (R.A., R.N.P., Y.T.A., M.D.K., J.Y.S., D.W., J.H., G.M.S., C.L.M., M.C.)., Soh JY; Center for Public Health Genomics, University of Virginia, Charlottesville (R.A., R.N.P., Y.T.A., M.D.K., J.Y.S., D.W., J.H., G.M.S., C.L.M., M.C.).; Department of Biomedical Engineering, University of Virginia, Charlottesville (D.L., R.N.P., Y.T.A., J.Y.S., M.C.)., Örd T; A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland (T.Ö., P.S., Q.Y., H.G., M.U.K.)., Singha P; A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland (T.Ö., P.S., Q.Y., H.G., M.U.K.)., Yang Q; A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland (T.Ö., P.S., Q.Y., H.G., M.U.K.)., Gilani H; A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland (T.Ö., P.S., Q.Y., H.G., M.U.K.)., Benavente ED; Laboratory of Experimental Cardiology, University Medical Center Utrecht, Utrecht University, The Netherlands (E.D.B., H.M.d.R.)., Wong D; Center for Public Health Genomics, University of Virginia, Charlottesville (R.A., R.N.P., Y.T.A., M.D.K., J.Y.S., D.W., J.H., G.M.S., C.L.M., M.C.)., Hinkle J; Center for Public Health Genomics, University of Virginia, Charlottesville (R.A., R.N.P., Y.T.A., M.D.K., J.Y.S., D.W., J.H., G.M.S., C.L.M., M.C.)., Ma L; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, NY (L.M., J.L.M.B.).; Icahn Institute of Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, NY (L.M., J.L.M.B.)., Sheynkman GM; Center for Public Health Genomics, University of Virginia, Charlottesville (R.A., R.N.P., Y.T.A., M.D.K., J.Y.S., D.W., J.H., G.M.S., C.L.M., M.C.).; Cancer Center, University of Virginia, Charlottesville (G.M.S.).; Department of Molecular Physiology and Biological Physics, University of Virginia, Charlottesville (G.M.S.)., den Ruijter HM; Laboratory of Experimental Cardiology, University Medical Center Utrecht, Utrecht University, The Netherlands (E.D.B., H.M.d.R.)., Miller CL; Center for Public Health Genomics, University of Virginia, Charlottesville (R.A., R.N.P., Y.T.A., M.D.K., J.Y.S., D.W., J.H., G.M.S., C.L.M., M.C.)., Björkegren JLM; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, NY (L.M., J.L.M.B.).; Icahn Institute of Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, NY (L.M., J.L.M.B.).; Integrated Cardio Metabolic Centre, Department of Medicine, Karolinska Institutet, Karolinska Universitetssjukhuset, Huddinge, Sweden (J.L.M.B.)., Kaikkonen MU; A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland (T.Ö., P.S., Q.Y., H.G., M.U.K.)., Civelek M; Center for Public Health Genomics, University of Virginia, Charlottesville (R.A., R.N.P., Y.T.A., M.D.K., J.Y.S., D.W., J.H., G.M.S., C.L.M., M.C.).; Department of Biomedical Engineering, University of Virginia, Charlottesville (D.L., R.N.P., Y.T.A., J.Y.S., M.C.).

المصدر: Circulation research [Circ Res] 2023 Feb 03; Vol. 132 (3), pp. 323-338. Date of Electronic Publication: 2023 Jan 04.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0047103 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1524-4571 (Electronic) Linking ISSN: 00097330 NLM ISO Abbreviation: Circ Res Subsets: MEDLINE

مواضيع طبية MeSH: Coronary Artery Disease*/genetics , Coronary Artery Disease*/metabolism, Male ; Female ; Humans ; Genome-Wide Association Study/methods ; Gene Expression Regulation ; Quantitative Trait Loci ; Genetic Predisposition to Disease ; Gene Expression ; Polymorphism, Single Nucleotide ; AlkB Homolog 8, tRNA Methyltransferase/genetics ; AlkB Homolog 8, tRNA Methyltransferase/metabolism

المؤلفون: Chen Z; Department of Sports Medicine, Huashan Hospital, Fudan University, Shanghai, China., Wang W; Department of Sports Medicine, Huashan Hospital, Fudan University, Shanghai, China., Hua Y; Department of Sports Medicine, Huashan Hospital, Fudan University, Shanghai, China.

المصدر: Frontiers in immunology [Front Immunol] 2023 Mar 15; Vol. 14, pp. 1019445. Date of Electronic Publication: 2023 Mar 15 (Print Publication: 2023).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Algorithms* , Osteoarthritis*/genetics, Humans ; Cross Reactions ; Health Status ; Immunotherapy ; GTP-Binding Proteins ; Ubiquitin-Protein Ligases ; AlkB Homolog 8, tRNA Methyltransferase ; Cleavage And Polyadenylation Specificity Factor

المؤلفون: Cavallin I; Central European Institute of Technology, Masaryk University, 625 00 Brno, Czech Republic., Bartosovic M; Central European Institute of Technology, Masaryk University, 625 00 Brno, Czech Republic., Skalicky T; Central European Institute of Technology, Masaryk University, 625 00 Brno, Czech Republic.; Institute of Parasitology, Biology Centre, Czech Academy of Sciences, 370 05 České Budějovice, Czech Republic., Rengaraj P; Central European Institute of Technology, Masaryk University, 625 00 Brno, Czech Republic., Demko M; Central European Institute of Technology, Masaryk University, 625 00 Brno, Czech Republic., Schmidt-Dengler MC; Johannes Gutenberg-Universität Mainz, Institute of Pharmaceutical and Biomedical Science (IPBS), D-55128 Mainz, Germany., Drino A; Medical University of Vienna, Center for Anatomy and Cell Biology, 1090 Vienna, Austria., Helm M; Johannes Gutenberg-Universität Mainz, Institute of Pharmaceutical and Biomedical Science (IPBS), D-55128 Mainz, Germany., Vanacova S; Central European Institute of Technology, Masaryk University, 625 00 Brno, Czech Republic.

المصدر: RNA (New York, N.Y.) [RNA] 2022 Dec; Vol. 28 (12), pp. 1568-1581. Date of Electronic Publication: 2022 Oct 03.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9509184 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-9001 (Electronic) Linking ISSN: 13558382 NLM ISO Abbreviation: RNA Subsets: MEDLINE

مواضيع طبية MeSH: Chromatin Immunoprecipitation Sequencing* , RNA, Transfer*/genetics , RNA, Transfer*/metabolism, Humans ; Anticodon ; RNA, Untranslated/genetics ; AlkB Homolog 8, tRNA Methyltransferase/genetics

المؤلفون: Lee MY; College of Nanoscale Science and Engineering, SUNY Polytechnic Institute, Albany, NY 12203, USA.; The RNA Institute, University at Albany, Albany, NY 12222, USA., Ojeda-Britez S; College of Nanoscale Science and Engineering, SUNY Polytechnic Institute, Albany, NY 12203, USA., Ehrbar D; The RNA Institute, University at Albany, Albany, NY 12222, USA.; Department of Biological Sciences, University at Albany, Albany, NY 12222, USA.; RNA Epitranscriptomics and Proteomics Resource, University at Albany, Albany, NY 12222, USA., Samwer A; Munich International School, Starnberg 82319, Germany., Begley TJ; The RNA Institute, University at Albany, Albany, NY 12222, USA.; Department of Biological Sciences, University at Albany, Albany, NY 12222, USA.; RNA Epitranscriptomics and Proteomics Resource, University at Albany, Albany, NY 12222, USA., Melendez JA; College of Nanoscale Science and Engineering, SUNY Polytechnic Institute, Albany, NY 12203, USA.; The RNA Institute, University at Albany, Albany, NY 12222, USA.

المصدر: Experimental biology and medicine (Maywood, N.J.) [Exp Biol Med (Maywood)] 2022 Dec; Vol. 247 (23), pp. 2090-2102. Date of Electronic Publication: 2022 Aug 29.

نوع المنشور: Journal Article; Review; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Frontiers Media S.A Country of Publication: England NLM ID: 100973463 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1535-3699 (Electronic) Linking ISSN: 15353699 NLM ISO Abbreviation: Exp Biol Med (Maywood) Subsets: MEDLINE

مواضيع طبية MeSH: Selenium*/metabolism, Humans ; Antioxidants ; Selenocysteine/genetics ; Selenocysteine/metabolism ; Selenoproteins/genetics ; Selenoproteins/metabolism ; Codon, Terminator ; AlkB Homolog 8, tRNA Methyltransferase

المؤلفون: Wagner A; Institute of Molecular Biotechnology, University of Natural Resources and Life Sciences, Vienna, Austria., Schosserer M; Institute of Molecular Biotechnology, University of Natural Resources and Life Sciences, Vienna, Austria; Institute of Medical Genetics, Center for Pathobiochemistry and Genetics, Medical University of Vienna, Vienna, Austria; Austrian Cluster for Tissue Regeneration, Vienna, Austria. Electronic address: markus.schosserer@meduniwien.ac.at.

المصدر: Ageing research reviews [Ageing Res Rev] 2022 Nov; Vol. 81, pp. 101700. Date of Electronic Publication: 2022 Jul 28.

نوع المنشور: Journal Article; Review; Systematic Review; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Science Country of Publication: England NLM ID: 101128963 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-9649 (Electronic) Linking ISSN: 15681637 NLM ISO Abbreviation: Ageing Res Rev Subsets: MEDLINE

مواضيع طبية MeSH: MicroRNAs* , Saccharomyces cerevisiae*/genetics, Aging/genetics ; AlkB Homolog 8, tRNA Methyltransferase ; Animals ; Humans ; Methyltransferases/genetics ; Methyltransferases/metabolism ; RNA, Messenger/genetics ; RNA, Ribosomal/chemistry ; RNA, Ribosomal/genetics ; RNA, Ribosomal/metabolism ; RNA, Transfer/genetics ; RNA, Transfer/metabolism

المؤلفون: Dedon PC; Department of Biological Engineering, Massachusetts Institute of Technology, Cambridge, MA 02139, USA; Singapore-MIT Alliance for Research and Technology, Antimicrobial Resistance IRG, Campus for Research Excellence and Technological Enterprise, Singapore 138602, Singapore. Electronic address: pcdedon@mit.edu., Begley TJ; University at Albany, Department of Biological Sciences, Albany, NY 12222, USA; RNA Institute, University at Albany, Albany, NY 12222, USA. Electronic address: tbegley@albany.edu.

المصدر: Trends in molecular medicine [Trends Mol Med] 2022 Nov; Vol. 28 (11), pp. 964-978. Date of Electronic Publication: 2022 Oct 11.

نوع المنشور: Journal Article; Review; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Science Ltd Country of Publication: England NLM ID: 100966035 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1471-499X (Electronic) Linking ISSN: 14714914 NLM ISO Abbreviation: Trends Mol Med Subsets: MEDLINE

مواضيع طبية MeSH: Codon Usage* , Neoplasms*/genetics, Humans ; Protein Biosynthesis ; Codon/genetics ; RNA, Transfer/genetics ; RNA, Transfer/metabolism ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; GTP-Binding Proteins/genetics ; GTP-Binding Proteins/metabolism ; AlkB Homolog 8, tRNA Methyltransferase/genetics