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27 documents found
1: Title: Aminoacyl-tRNA synthetase deficiencies in search of common themes.
Authors: Fuchs, Sabine A, et.al. .
Journal: Genetics in medicine : official journal of the American College of Medical Genetics (Genet Med), 2018 .
Snippet: Deep phenotyping of 5 additional patients with unreported compound heterozygous pathogenic variations in IARS, LARS, KARS, and QARS extended the common phenotype with lung disease, hypoalbuminemia, anemia, and renal tubulopathy.
Affiliation: Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, Utrecht, 3584 EA, The Netherlands. S.Fuchs@umcutrecht.nl. Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, Utrecht, 3584 EA, The Netherlands. Department of Pathology, University Medical Center Utrecht, Lundlaan 6, Utrecht, 3584 EA, The Netherlands. Department of Genetics, University Medical Centre Utrecht, Lundlaan 6, Utrecht, 3584 EA, The Netherlands. Department of Pediatric Pulmonology, Academic Medical Center Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ, The Netherlands. Department of Clinical Genetics, VU University Medical Center, De Boelelaan 1117, Amsterdam, 1081HV, The Netherlands. Department of Neonatology, University Medical Center Utrecht, Lundlaan 6, Utrecht, 3584 EA, The Netherlands. Department of Pediatrics, Maxima Medical Centre Veldhoven, De Run 4600, Veldhoven, 5504 DB, The Netherlands. Department of Child Neurology, VU University Medical Center, De Boelelaan 1117, Amsterdam, 1081HV, The Netherlands. Nijmegen Centre for Mitochondrial Disorders at Department of Pediatrics, Radboud University Nijmegen Centre, Nijmegen, The Netherlands. Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500 HB, The Netherlands. Division of Pediatric Gastroenterology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, Utrecht, 3584 EA, The Netherlands. Department of Pediatrics, VU University Medical Center, De Boelelaan 1117, Amsterdam, 1081HV, The Netherlands. .
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2: Title: Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation.
Journal: Neurogenetics, Vol. 18 (3): 141-146, 2017 .
Snippet: Mutations in the glutaminyl-tRNA synthetase (QARS) gene have been reported in patients with progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.
Affiliation: Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel. Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel. Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Department of Microbiology & Molecular Genetics, University of Texas-Houston Medical School, Houston, TX, USA. The Rina Mor Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel. Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel. Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel. dorlev@post.tau.ac.il. Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel. dorlev@post.tau.ac.il. The Rina Mor Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel. dorlev@post.tau.ac.il. .
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3: Title: Difficulty in obtaining the complete mRNA coding sequence at 5' region (5' end mRNA artifact): Causes, consequences in biology and medicine and possible solutions for obtaining the actual amino acid sequence of proteins (Review).
Authors: Vitale, Lorenza, et.al. .
Journal: International journal of molecular medicine (Int J Mol Med), Vol. 39 (5): 1063-1071, 2017 .
Snippet: Among the known human genes whose study was affected by this artifact, we can include disco interacting protein 2 homolog A (DIP2A; KIAA0184), Down syndrome critical region 1 (DSCR1), SON DNA binding protein (SON), trefoil factor 3 (TFF3) and URB1 ribosome biogenesis 1 homolog (URB1; KIAA0539) on chromosome 21, as well as receptor for activated C kinase 1 (RACK1, also known as GNB2L1), glutaminyl‑tRNA synthetase (QARS) and tyrosyl-DNA phosphodiesterase 2 (TDP2) along with another 474 loci, including interleukin 16 (IL16).
Affiliation: Department of Experimental, Diagnostic and Specialty Medicine (DIMES), Unit of Histology, Embryology and Applied Biology, University of Bologna, I‑40126 Bologna, Italy. Department for Life Quality Studies, University of Bologna, I‑47921 Rimini, Italy. .
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4: Title: Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder.
Authors: Kim, Daniel Seung, et.al. .
Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics (Am J Med Genet B Neuropsychiatr Genet), Vol. 174 (4): 381-389, 2017 .
Snippet: Six de novo missense variants at highly conserved bases were identified and validated from four of the 11 families: the brain-expressed genes TBC1D9, DAGLA, QARS, CSMD2, TRPM2, and WDR83.
Affiliation: Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, Washington. Center for Statistical Genetics, Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, Michigan. Division of Bioinformatics and Computational Biology, Department of Medical Informatics and Clinical Epidemiology, Oregon Health and Science University, Portland, Oregon. Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington. Department of Psychology, University of Iowa, Iowa City, Iowa. Department of Psychiatry, University of California-Irvine, Irvine, California. Department of Epidemiology, University of California-Irvine, Irvine, California. Department of Psychiatry, Oregon Health and Science University, Portland, Oregon. .
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5: Title: Case Report.
Authors: Datta, Anita, et.al. .
Journal: Journal of child neurology (J Child Neurol), Vol. 32 (4): 403-407, 2017 .
Snippet: Glutaminyl-tRNA synthetase (QARS) deficiency has been described to be a cause of a neurodegenerative disorder associated with severe developmental delay, microcephaly, delayed myelination, and intractable epilepsy.
Affiliation: 1 Division of Neurology, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada. 2 Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, Vancouver, BC, Canada. .
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6: Title: Association of DARS gene polymorphisms with the risk of isolated ventricular septal defects in the Chinese Han population.
Authors: Feng, Yu, et.al. .
Journal: Italian journal of pediatrics (Ital J Pediatr), Vol. 42 (1): 102, 2016 .
Snippet: Eight core aminoacyl-tRNA synthetases (ARSs) (EPRS, MARS, QARS, RARS, IARS, LARS, KARS, and DARS) combine with three nonenzymatic components to form a complex known as the multisynthetase complex (MSC).
Affiliation: Department of Cardiothoracic Surgery, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu, 210000, China. Department of Cardiothoracic Surgery, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu, 210000, China. mohsuming15@sina.com. .
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7: Title: Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations.
Authors: Alabdullatif, M A, et.al. .
Journal: Clinical genetics (Clin Genet), Vol. 91 (4): 616-622, 2017 .
Snippet: Among the 25 individuals with recessive diseases, 18 had novel mutations in 16 genes (ASPM, SPINK5, QARS, MEGF10, SPATA7, GMPPA, ABCA4, SRD5A2, RPGRIP1L, MET, SLC12A6, ALDH1A3, TNFRSF11A, FLNB, PHGDH, and FKBP10) including five with phenotypic expansion.
Affiliation: Pediatrics Department, Tawam Hospital, Al-Ain, United Arab Emirates. Pediatric Department, Jordan University of Science and Technology, Jordan. Division of Clinical Genetics and Metabolic Disorders, Tawam Hospital, Al-Ain, United Arab Emirates. .
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8: Title: Human cytomegalovirus-encoded miR-US4-1 promotes cell apoptosis and benefits discharge of infectious virus particles by targeting QARS.
Authors: Shao, Yaozhong, et.al. .
Journal: Journal of biosciences (J Biosci), Vol. 41 (2): 183-92, 2016 .
Snippet: In this study, Glutaminyl-tRNA Synthetase (QARS), which could regulate signal transduction pathways for cellular apoptosis, was identified as a direct target of hcmv-miR-US4-1.
Affiliation: Virus Laboratory, Affiliated Shengjing Hospital, China Medical University, Shenyang, Liaoning 110004, China. .
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9: Title: Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.
Authors: Kodera, Hirofumi, et.al. .
Journal: Journal of human genetics (J Hum Genet), Vol. 60 (2): 97-101, 2015 .
Snippet: Recessive mutations in QARS, including the loss-of-function missense mutation p.Tyr57His, have been reported to cause intractable seizures with progressive microcephaly.
Affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. Division of Neurology, Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan. Division of Radiology, Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan. Department of Molecular Biology, Yokohama City University School of Medicine and Graduate School of Medical Science, Yokohama, Japan. .
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10: Title: Expression profile of aminoacyl-tRNA synthetases in dorsal root ganglion neurons after peripheral nerve injury.
Authors: Park, Byung Sun, et.al. .
Journal: Journal of molecular histology (J Mol Histol), Vol. 46 (1): 115-22, 2015 .
Snippet: Of 20 AminoARSs, we found that expression of lysyl-tRNA synthetase (KARS) and glutaminyl-tRNA synthetase (QARS) was decreased in the DRG injured side.
Affiliation: Department of Anatomy and Neurobiology, School of Medicine, Kyung Hee University, 26 Kyungheedae-ro, Dongdaemun-gu, Seoul, 130-701, Republic of Korea. .
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11: Title: Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities.
Authors: Salvarinova, Ramona, et.al. .
Journal: Neurogenetics, Vol. 16 (2): 145-9, 2015 .
Snippet: We describe a family with QARS deficiency due to compound heterozygous QARS mutations, including c.1387G > A (p.R463*) in the catalytic core domain and c.2226C > G (p.Q742H) in the anticodon domain, both previously unreported and predicted damaging.
Affiliation: Division of Biochemical Diseases, Rm K3-201, Department of Pediatrics, B.C. Children's & Women's Hospital, 4480 Oak Street, Vancouver, BC, V6H 3 V4, Canada. .
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12: Title: Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease.
Authors: McMillan, Hugh J, et.al. .
Journal: Journal of child neurology (J Child Neurol), Vol. 30 (8): 1037-43, 2015 .
Snippet: Our patients' phenotype is remarkably similar to a phenotype recently reported in glutaminyl-transfer RNA synthetase (QARS), another bifunctional ARS gene.
Affiliation: Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada hmcmillan@cheo.on.ca. Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada. McGill University and Genome Quebec Innovation Centre, Montréal, Quebec, Canada. Department of Human Genetics, McGill University, Montréal, Quebec, Canada. .
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13: Title: Progressive microcephaly is caused by compound-heterozygous mutations in QARS.
Authors: Waltl, S .
Journal: Clinical genetics (Clin Genet), Vol. 86 (6): 508-9, 2014 .
Snippet: Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures Zhang et al. (2014) The American Journal of Human Genetics;94(4):547-558.
Affiliation: Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada. swaltl@cmmt.ubc.ca. .
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14: Title: Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.
Authors: Zhang, Xiaochang, et.al. .
Journal: American journal of human genetics (Am J Hum Genet), Vol. 94 (4): 547-58, 2014 .
Snippet: Here, we report the identification of mutations in QARS (encoding glutaminyl-tRNA synthetase [QARS]) as the causative variants in two unrelated families affected by progressive microcephaly, severe seizures in infancy, atrophy of the cerebral cortex and cerebellar vermis, and mild atrophy of the cerebellar hemispheres.
Affiliation: Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute. Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT 06520-8114, USA; Department of Microbiology and Molecular Genetics, University of Texas Health Science Center, Houston, TX 77030, USA. Department of Pediatric Neurology, Centre de Reference Epilepsies Rares, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France; Institut National de la Santé et de la Recherche Médicale U1129, Université Paris Descartes, 75006 Paris, France; Institut National de la Santé et de la Recherche Médicale U1129, NeuroSpin, Commissariat à l'Énergie Atomique et aux Énergies Alternatives, 91191 Gif-sur-Yvette, France. Howard Hughes Medical Institute; Stem Cell Program and Division of Hematology/Oncology, Boston Children's Hospital, Harvard Stem Cell Institute, Harvard Medical School, Boston, MA 02115, USA. Department of Microbiology and Molecular Genetics, University of Texas Health Science Center, Houston, TX 77030, USA. Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, MA 02115, USA; Pediatric Neurology Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA. Sanford Children's Health Research Center, Sanford Research, 2301 East 60(th) Street North, Sioux Falls, SD 57104, USA. Departments of Pediatrics and Ob/Gyn, Sanford School of Medicine, Sioux Falls, SD 57105, USA. Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA. Department of Pediatric Neurology, Centre Hospitalier Universitaire de Lyon, 69007 Lyon, France. Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA. Institut National de la Santé et de la Recherche Médicale U781, Department of Pediatric Radiology, Hôpital Necker-Enfants Malades, Imagine institute, Université Paris Descartes, 75006 Paris, France. Institut National de la Santé et de la Recherche Médicale U781, Department of Genetics, Hôpital Necker-Enfants Malades, Imagine institute, Université Paris Descartes, 75006 Paris, France. Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT 06520-8114, USA. Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute; Department of Pediatrics, Harvard Medical School, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. Electronic address: christopher.walsh@childrens.harvard.edu. Department of Pediatric Neurology, Centre de Reference Epilepsies Rares, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France; Institut National de la Santé et de la Recherche Médicale U1129, Université Paris Descartes, 75006 Paris, France; Institut National de la Santé et de la Recherche Médicale U1129, NeuroSpin, Commissariat à l'Énergie Atomique et aux Énergies Alternatives, 91191 Gif-sur-Yvette, France. Electronic address: rima.nabbout@nck.aphp.fr. .
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15: Title: Potentially functional polymorphisms in aminoacyl-tRNA synthetases genes are associated with breast cancer risk in a Chinese population.
Authors: He, Yisha, et.al. .
Journal: Molecular carcinogenesis (Mol Carcinog), Vol. 54 (7): 577-83, 2015 .
Snippet: Thus, we conducted a case-control study including 1064 breast cancer cases and 1073 cancer-free controls to evaluate the associations of 28 potentially functional polymorphisms in 12 core ARSs genes (AARS, CARS, EPRS, HARS, KARS, LARS, MARS, QARS, RARS, VARS, WARS, and YARS) with breast cancer risk.
Affiliation: Department of Epidemiology and Biostatistics, Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Cancer Center, School of Public Health, Nanjing Medical University, Nanjing, Jiangsu, P.R. China. Department of Medical Oncology, Jinling Hospital, Southern Medical University, 305 East Zhongshan Road, Nanjing, Jiangsu Province, P.R. China. State Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing, P.R. China. .
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16: Title: Reinvestigation of aminoacyl-tRNA synthetase core complex by affinity purification-mass spectrometry reveals TARSL2 as a potential member of the complex.
Authors: Kim, Kyutae, et.al. .
Journal: PloS one, Vol. 8 (12): e81734, 2013 .
Snippet: Complex-forming ARSs, such as DARS, EPRS, IARS, Kars, LARS, MARS, QARS and RARS, were constantly found to interact with each bait.
Affiliation: Biomedical Research Institute, Korea Institute of Science and Technology, Seongbuk-gu, Seoul, Korea ; School of Life Sciences and Biotechnology, Korea University, Seongbuk-gu, Seoul, Korea. .
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17: Title: Cancer association study of aminoacyl-tRNA synthetase signaling network in glioblastoma.
Authors: Kim, Yong-Wan, et.al. .
Journal: PloS one, Vol. 7 (8): e40960, 2012 .
Snippet: The analysis identified 122 probe sets as survival signatures, including 5 of ARSN (VARS, QARS, CARS, NARS, FARS), and 115 of DTGs and PPIs (PARD3, RXRB, ATP5C1, HSP90AA1, CD44, THRA, TRAF2, KRT10, MED12, etc).
Affiliation: Catholic Research Institutes of Medical Science, College of Medicine, The Catholic University of Korea, Seoul, Korea. .
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18: Title: Selection of novel reference genes for use in the human central nervous system: a BrainNet Europe Study.
Authors: Durrenberger, Pascal F, et.al. .
Journal: Acta neuropathologica (Acta Neuropathol), Vol. 124 (6): 893-903, 2012 .
Snippet: We tested the stability of expression of eight novel (ATP5E, AARS, GAPVD1, CSNK2B, XPNPEP1, OSBP, NAT5 and DCTN2) and four more commonly used (BECN1, GAPDH, QARS and TUBB) reference genes in a smaller cohort using RT-qPCR.
Affiliation: Wolfson Neuroscience Laboratories, Division of Brain Sciences, Imperial College London, Hammersmith Hospital Campus, London, UK. .
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19: Title: Alterations in metabolism-related genes induced in SHSY5Y cells by okadaic acid exposure.
Authors: Valdiglesias, Vanessa, et.al. .
Journal: Journal of toxicology and environmental health. Part A (J Toxicol Environ Health A), Vol. 75 (13-15): 844-56, 2012 .
Snippet: Specifically, the expression patterns of GAPDH, TOMM5, SLC25A4, COII, QARS, and RGS5 genes were determined in SHSY5Y human neuroblastoma cells exposed to OA for 3, 24, or 48 h.
Affiliation: Toxicology Unit, Department of Psychobiology, University of A Coruña, A Coruña, Spain. vvaldiglesias@udc.es .
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20: Title: Genome-scale analysis of human mRNA 5' coding sequences based on expressed sequence tag (EST) database.
Authors: Casadei, Raffaella, et.al. .
Journal: Genomics, Vol. 100 (2): 125-30, 2012 .
Snippet: Proof-of-concept confirmation was obtained by in vitro cloning and sequencing for GNB2L1, QARS and TDP2 cDNAs, and the consequences for the functional studies of these loci are discussed.
Affiliation: Center for Research in Molecular Genetics Fondazione CARISBO, Department of Histology, Embryology and Applied Biology, University of Bologna, via Belmeloro 8, 40126 Bologna, Italy. .
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