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6 documents found
1: Title: Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.
Authors: Gardeitchik, Thatjana, et.al. .
Journal: American journal of human genetics (Am J Hum Genet), Vol. 102 (4): 685-695, 2018 .
Snippet: The identification of MRPS2 as an additional gene related to mitochondrial disease further expands the genetic and phenotypic spectra of OXPHOS deficiencies caused by impaired mitochondrial translation.
Affiliation: Department of Pediatrics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Department of Pediatrics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France. Clinic for Pediatrics, Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria. Department of Pediatrics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Medical Center, 6500 HB Nijmegen, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Department of Pediatrics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Medical Center, 6500 HB Nijmegen, the Netherlands. Department of Pediatrics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Departments of Pediatrics, Neurology, and Genetics, Hôpital Necker-Enfants-Malades, 75015 Paris, France. Reference Center for Inherited Metabolic Diseases, Hôpital Necker-Enfants-Malades, Assistance Publique - Hôpitaux de Paris, Université Paris Descartes, Institut Imagine, 75015 Paris, France. Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Medical Center, 6500 HB Nijmegen, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15261, USA. Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria. Hayward Genetics Center, Tulane University, LA 70112, USA. Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Medical Center, 6500 HB Nijmegen, the Netherlands. INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France; Departments of Pediatrics, Neurology, and Genetics, Hôpital Necker-Enfants-Malades, 75015 Paris, France. Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France. Electronic address: metodi.metodiev@inserm.fr. Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA. Electronic address: emoravakozicz@tulane.edu. .
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2: Title: Benzyl isothiocyanate alters the gene expression with cell cycle regulation and cell death in human brain glioblastoma GBM 8401 cells.
Authors: Tang, Nou-Ying, et.al. .
Journal: Oncology reports (Oncol Rep), Vol. 35 (4): 2089-96, 2016 .
Snippet: BITC inhibited seven mitochondria ribosomal genes, the mitochondrial ribosomal protein; tumor protein D52 (MRPS28) was inhibited 2.06-fold, the mitochondria ribosomal protein S2 (MRPS2) decreased 2.07-fold, the mitochondria ribosomal protein L23 (MRPL23) decreased 2.08-fold, the mitochondria ribosomal protein S2 (MRPS2) decreased 2.07-fold, the mitochondria ribosomal protein S12 (MRPS12) decreased 2.08-fold, the mitochondria ribosomal protein L12 (MRPL12) decreased 2.25-fold and the mitochondria ribosomal protein S34 (MRPS34) was decreased 2.30-fold in GBM 8401 cells.
Affiliation: School of Chinese Medicine, China Medical University, Taichung 404, Taiwan, R.O.C. Department of Health and Nutrition Biotechnology, Asia University, Taichung 413, Taiwan, R.O.C. School of Pharmacy, China Medical University, Taichung 404, Taiwan, R.O.C. Division of Cardiology, China Medical University Hospital, Taichung 404, Taiwan, R.O.C. Department of Internal Medicine, China Medical University Hospital, Taichung 404, Taiwan, R.O.C. Department of Anesthesiology, E-Da Hospital/I-Shou University, Kaohsiung 824, Taiwan, R.O.C. Department of Biological Science and Technology, China Medical University, Taichung 404, Taiwan, R.O.C. School of Post-Baccalaureate Chinese Medicine, China Medical University, Taichung 404, Taiwan, R.O.C. .
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3: Title: DNA microarray and miRNA analyses reinforce the classification of follicular thyroid tumors.
Authors: Jacques, Caroline, et.al. .
Journal: The Journal of clinical endocrinology and metabolism (J Clin Endocrinol Metab), Vol. 98 (5): E981-9, 2013 .
Snippet: Five of these genes (TP53, HOXA9, RUNX1, MYD88, and CITED1), with a differential expression confirmed by qPCR analysis, are implicated in tumorigenesis, 4 in mitochondrial metabolism (MRPL14, MRPS2, MRPS28, and COX6A1), and 2 in thyroid metabolic pathways (CaMKIINalpha and TPO).
Affiliation: Institut National de la Santé et de la Recherche Médicale U694, rue des Capucins, F-49033 Angers, France. .
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4: Title: Incidence of apoptosis and transcript abundance in bovine follicular cells is associated with the quality of the enclosed oocyte.
Authors: Janowski, D, et.al. .
Journal: Theriogenology, Vol. 78 (3): 656-69.e1-5, 2012 .
Snippet: Among these, EIF3F, RARRES2, RNF34, ACTA1, GSTA1, EIF3A, VIM and CS gene transcripts were most highly enriched in the BCB+ oocytes, whereas OLFM1, LINGO1, ALDH1A3, PTHLH, BTN3A3, MRPS2 and PPM1K were most significantly reduced in these cells.
Affiliation: Leibniz Institute for Farm Animal Biology, Wilhelm-Stahl-Allee 2, 18196 Dummerstorf, Germany. janowski@fbn-dummerstorf.de .
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5: Title: LOSS of Mrp1 alters detoxification enzyme expression in a tissue- and hormonal-status-specific manner.
Authors: Sivils, Jeffrey C, et.al. .
Journal: Journal of applied toxicology : JAT (J Appl Toxicol), Vol. 33 (8): 766-73, 2013 .
Snippet: In the kidney, the expression of several P450s, sulfotransferase 1a1 (Sult), glucuronosyltransferases (Ugt) and Mrps2-4, were significantly changed owing to castration alone.
Affiliation: Department of Biological Sciences, University of Texas at El Paso, 500 W. University Avenue, El Paso, TX 79910, USA. .
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6: Title: The effect of mutated mitochondrial ribosomal proteins S16 and S22 on the assembly of the small and large ribosomal subunits in human mitochondria.
Authors: Emdadul Haque, Md, et.al. .
Journal: Mitochondrion, Vol. 8 (3): 254-61, 2008 .
Snippet: However, MRPS2 was reduced only about 2-fold in patient fibroblasts.
Affiliation: Department of Chemistry, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-3290, USA. .
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