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PLoS genetics, ISSN 1553-7404, 04/2019, Volume 15, Issue 4, pp. e1008079 - e1008079
Journal Article
Journal Article
Eukaryotic Cell, ISSN 1535-9778, 03/2010, Volume 9, Issue 3, pp. 460 - 471
Journal Article
Journal Article
Applied microbiology and biotechnology, ISSN 0175-7598, 4/2010, Volume 86, Issue 4, pp. 1057 - 1066
Journal Article
Molecular cell, ISSN 1097-2765, 11/2011, Volume 44, Issue 4, pp. 660 - 666
How pseudouridylation (Ψ), the most common and evolutionarily conserved modification of rRNA, regulates ribosome activity is poorly understood. Medically, Ψ is... 
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Protein Biosynthesis | Hydro-Lyases - deficiency | Microcephaly - genetics | Microtubule-Associated Proteins - genetics | Saccharomyces cerevisiae - genetics | Humans | Ribonucleoproteins, Small Nuclear - genetics | Ribosomes - metabolism | Fetal Growth Retardation - genetics | Microcephaly - enzymology | Dyskeratosis Congenita - genetics | RNA, Ribosomal - genetics | Intellectual Disability - genetics | Nuclear Proteins - deficiency | Cell Cycle Proteins - genetics | Intellectual Disability - enzymology | RNA, Transfer - genetics | Hydro-Lyases - metabolism | Hydro-Lyases - genetics | Microtubule-Associated Proteins - deficiency | Nuclear Proteins - genetics | RNA, Transfer - chemistry | Binding Sites | Fetal Growth Retardation - enzymology | Genes, Reporter | Transduction, Genetic | Luciferases - analysis | RNA, Transfer - metabolism | RNA, Ribosomal - chemistry | Ribosomes - chemistry | RNA, Ribosomal - metabolism | Ribonucleoproteins, Small Nuclear - deficiency | Cell Cycle Proteins - deficiency | Saccharomyces cerevisiae Proteins - genetics | Dyskeratosis Congenita - enzymology | Sequence Homology, Amino Acid | Animals | Plasmids | Saccharomyces cerevisiae - enzymology | Mice | Mutation | Cricket | Chemical properties | Paralysis | Molecular genetics | Cells | Transfer RNA | Index Medicus | Dyskeratosis | Fidelity | RNA modification | Internal ribosome entry site | Translation | tRNA | rRNA | Ribosomes | X chromosome | pseudouridylation | Evolution
Journal Article
Annals of hematology, ISSN 0939-5555, 1/2013, Volume 92, Issue 1, pp. 1 - 9
.... In order to clarify the pathophysiology of sideroblastic anemia, a nationwide survey consisting of clinical and molecular genetic analysis was performed in Japan... 
Oncology | ALAS2 | Medicine & Public Health | Hematology | Congenital sideroblastic anemia | Myelodysplastic syndrome | Life Sciences & Biomedicine | Science & Technology | 5-Aminolevulinate Synthetase - deficiency | Humans | Middle Aged | Child, Preschool | Male | Ribonucleoprotein, U2 Small Nuclear - deficiency | Mitochondrial Membrane Transport Proteins - genetics | Young Adult | Genes, X-Linked | ATP-Binding Cassette Transporters - genetics | Membrane Transport Proteins - genetics | Mitochondrial Membrane Transport Proteins - deficiency | Ribonucleoprotein, U2 Small Nuclear - genetics | Genetic Diseases, X-Linked - genetics | 5-Aminolevulinate Synthetase - metabolism | Hydro-Lyases - genetics | Child | Infant, Newborn | Myelodysplastic Syndromes - drug therapy | Genetic Diseases, X-Linked - blood | Gene Frequency | RNA Splicing Factors | Myelodysplastic Syndromes - epidemiology | Anemia, Sideroblastic - genetics | 5-Aminolevulinate Synthetase - genetics | Adolescent | Age of Onset | Japan - epidemiology | Hydro-Lyases - deficiency | Infant | Anemia, Sideroblastic - classification | Myelodysplastic Syndromes - blood | Recombinant Fusion Proteins - metabolism | Anemia, Sideroblastic - congenital | ATP-Binding Cassette Transporters - deficiency | Anemia, Sideroblastic - epidemiology | Membrane Transport Proteins - deficiency | Glutaredoxins - genetics | Adult | Female | Anemia, Sideroblastic - blood | Treatment Outcome | Phosphoproteins - genetics | Health Surveys | Phosphoproteins - deficiency | Vitamin B 6 - therapeutic use | Chromosome Aberrations | Glutaredoxins - deficiency | Aged | Myelodysplastic Syndromes - genetics | Medical colleges | Genetic disorders | Gene mutations | Anemia | Genes | Genetic research | Hemoglobin | Index Medicus | Original
Journal Article
American journal of human genetics, ISSN 0002-9297, 04/2015, Volume 96, Issue 4, pp. 631 - 639
Journal Article