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1. Full Text rRNA Pseudouridylation Defects Affect Ribosomal Ligand Binding and Translational Fidelity from Yeast to Human Cells
by Jack, Karen and Bellodi, Cristian and Landry, Dori M and Niederer, Rachel O and Meskauskas, Arturas and Musalgaonkar, Sharmishtha and Kopmar, Noam and Krasnykh, Olya and Dean, Alison M and Thompson, Sunnie R and Ruggero, Davide and Dinman, Jonathan D
Molecular cell, ISSN 1097-2765, 11/2011, Volume 44, Issue 4, pp. 660 - 666
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
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2. Full Text Human Hypertension Caused by Mutations in WNK Kinases
by Frederick H. Wilson and Sandra Disse-Nicodème and Keith A. Choate and Kazuhiko Ishikawa and Carol Nelson-Williams and Isabelle Desitter and Murat Gunel and David V. Milford and Graham W. Lipkin and Jean-Michel Achard and Morgan P. Feely and Bertrand Dussol and Yvon Berland and Robert J. Unwin and Haim Mayan and David B. Simon and Zvi Farfel and Xavier Jeunemaitre and Richard P. Lifton
Science (American Association for the Advancement of Science), ISSN 0036-8075, 8/2001, Volume 293, Issue 5532, pp. 1107 - 1112
Hypertension | Polymerase chain reaction | Kidneys | Exons | Genomics | DNA | Genetic loci | Amino acids | Genetic mutation | Chromosomes | Research Article | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Cardiology. Vascular system | Biological and medical sciences | Arterial hypertension. Arterial hypotension | Medical sciences | Clinical manifestations. Epidemiology. Investigative techniques. Etiology | Blood and lymphatic vessels | Sequence Deletion | Kidney Tubules, Distal - enzymology | Intercellular Junctions - enzymology | Minor Histocompatibility Antigens | Humans | Pseudohypoaldosteronism - physiopathology | Molecular Sequence Data | Male | Mutation, Missense | Phosphoproteins - metabolism | Chromosomes, Human, Pair 17 - genetics | WNK Lysine-Deficient Protein Kinase 1 | Kidney Tubules, Distal - ultrastructure | Base Sequence | Female | Kidney Tubules, Collecting - enzymology | Membrane Proteins - metabolism | Hypertension - enzymology | Hypertension - genetics | Chromosomes, Human, Pair 12 - genetics | Protein-Serine-Threonine Kinases - metabolism | Genetic Linkage | Amino Acid Sequence | Cytoplasm - enzymology | Kidney Tubules, Collecting - ultrastructure | Signal Transduction | Introns | Pseudohypoaldosteronism - genetics | Protein-Serine-Threonine Kinases - genetics | Intracellular Signaling Peptides and Proteins | Chromosome Mapping | Hypertension - physiopathology | Gene Expression Regulation, Enzymologic | Pseudohypoaldosteronism - enzymology | Zonula Occludens-1 Protein | Pedigree | Protein-Serine-Threonine Kinases - chemistry | Mutation | Microscopy, Fluorescence | Protein kinases | Genetic aspects | Proteins | Genes | WNK4 gene | WNK1 gene | pseudohypoaldosteronism (type II) | Index Medicus
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3. Full Text PKM2 Regulates Chromosome Segregation and Mitosis Progression of Tumor Cells
by Jiang, Yuhui and Li, Xinjian and Yang, Weiwei and Hawke, David H and Zheng, Yanhua and Xia, Yan and Aldape, Kenneth and Wei, Chongyang and Guo, Fang and Chen, Yan and Lu, Zhimin
Molecular cell, ISSN 1097-2765, 01/2014, Volume 53, Issue 1, pp. 75 - 87
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Glioblastoma - enzymology | Mitosis | Humans | Neoplasm Proteins - metabolism | Poly-ADP-Ribose Binding Proteins | Glioblastoma - genetics | Spindle Apparatus - genetics | Cell Cycle Proteins - genetics | Membrane Proteins - metabolism | Neoplasm Proteins - genetics | Kinetochores - enzymology | Brain Neoplasms - enzymology | Chromosome Segregation | Membrane Proteins - genetics | Chromosomes, Human - genetics | Cell Cycle Proteins - metabolism | Brain Neoplasms - genetics | Chromosomes, Human - metabolism | Thyroid Hormones - genetics | Carrier Proteins - genetics | Animals | Carrier Proteins - metabolism | Mice, Nude | Thyroid Hormones - metabolism | Mice | HeLa Cells | Spindle Apparatus - enzymology | Genetic research | Glucose metabolism | Epidermal growth factor | Genetic transcription | Gliomas | Protein binding | Brain tumors | Chromosomes | Protein kinases | Index Medicus | spindle-assembly checkpoint | PKM2 | kinetochore | Bub3 | tumorigenesis | phosphorylation | EGFR
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4. Full Text Analysis of the evolution of granule associated serine proteases of immune defence (GASPIDs) suggests a revised nomenclature
by Ahmad, Jamshaid and Bird, Phillip Ian and Kaiserman, Dion
Biological chemistry, ISSN 1431-6730, 10/2014, Volume 395, Issue 10, pp. 1253 - 1262
neutrophil protease | granzyme | mast cell protease | Granzyme | Neutrophil protease | Mast cell protease | Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Neutrophils - enzymology | Species Specificity | Humans | Chromosomes, Human, Pair 19 - enzymology | Granzymes - genetics | Phylogeny | Mast Cells - enzymology | Biological Evolution | Chromosomes, Human, Pair 19 - genetics | Cytoplasmic Granules - enzymology | Animals | Chromosomes, Human, Pair 14 - enzymology | Fishes | Serine Proteases - chemistry | Granzymes - immunology | Cytoplasmic Granules - immunology | Serine Proteases - immunology | Chromosomes, Human, Pair 14 - genetics | Chromosomes, Human, Pair 5 - enzymology | Chromosomes, Human, Pair 5 - genetics | Peptide Hydrolases - metabolism | Index Medicus
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5. Full Text OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome
by Uddin, Mohammed and Unda, Brianna K and Kwan, Vickie and Holzapfel, Nicholas T and White, Sean H and Chalil, Leon and Woodbury-Smith, Marc and Ho, Karen S and Harward, Erin and Murtaza, Nadeem and Dave, Biren and Pellecchia, Giovanna and D’Abate, Lia and Nalpathamkalam, Thomas and Lamoureux, Sylvia and Wei, John and Speevak, Marsha and Stavropoulos, James and Hope, Kristin J and Doble, Brad W and Nielsen, Jacob and Wassman, E. Robert and Scherer, Stephen W and Singh, Karun K
American journal of human genetics, ISSN 0002-9297, 02/2018, Volume 102, Issue 2, pp. 278 - 295
15q13.3 microdeletion syndrome | neurodevelopmental disorder | copy-number variation | OTUD7A | dendrite | dendritic spine | synapse | schizophrenia | autism spectrum disorder | deubiquitinase | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Deletion | Autism Spectrum Disorder - genetics | Endopeptidases - metabolism | Seizures - enzymology | Seizures - genetics | Genetic Association Studies | Humans | Male | Dendritic Spines - metabolism | Neurodevelopmental Disorders - genetics | Chromosomes, Human, Pair 15 - genetics | Intellectual Disability - genetics | Phenotype | Animals | Endopeptidases - genetics | Chromosome Disorders - enzymology | Gene Deletion | Intellectual Disability - enzymology | Female | Mice | Chromosomes, Human, Pair 15 - enzymology | Chromosome Disorders - genetics | Neurodevelopmental Disorders - enzymology | Prosencephalon - pathology | Usage | Copy number variations | Pervasive developmental disorders | Nucleotide sequencing | Research | Gene expression | Health aspects | Risk factors | DNA sequencing | Index Medicus
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6. Full Text Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome
by Yin, Jiani and Chen, Wu and Chao, Eugene S and Soriano, Sirena and Wang, Li and Wang, Wei and Cummock, Steven E and Tao, Huifang and Pang, Kaifang and Liu, Zhandong and Pereira, Fred A and Samaco, Rodney C and Zoghbi, Huda Y and Xue, Mingshan and Schaaf, Christian P
American journal of human genetics, ISSN 0002-9297, 02/2018, Volume 102, Issue 2, pp. 296 - 308
OTUD7A | mouse behavior | 15q13.3 microdeletion syndrome | dendritic spines | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Seizures - genetics | Dendritic Spines - metabolism | Electroencephalography | Epilepsy - physiopathology | Intellectual Disability - genetics | Action Potentials | Behavior, Animal | Synapses - metabolism | Chromosome Disorders - enzymology | Base Sequence | Intellectual Disability - enzymology | Epilepsy - genetics | Female | Disease Models, Animal | Chromosome Deletion | Epilepsy - enzymology | Seizures - enzymology | Mice, Inbred C57BL | Endopeptidases - deficiency | Chromosomes, Human, Pair 15 - genetics | Mice, Knockout | Homozygote | Phenotype | Animals | Endopeptidases - genetics | Chromosomes, Human, Pair 15 - enzymology | Chromosome Disorders - genetics | Usage | Care and treatment | Genetic disorders | Rats as laboratory animals | Animal behavior | Analysis | Behavior | Risk factors | Index Medicus
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7. Full Text Elevated serum tryptase levels identify a subset of patients with a myeloproliferative variant of idiopathic hypereosinophilic syndrome associated with tissue fibrosis, poor prognosis, and imatinib responsiveness
by Klion, Amy D and Noel, Pierre and Akin, Cem and Law, Melissa A and Gilliland, D. Gary and Cools, Jan and Metcalfe, Dean D and Nutman, Thomas B
Blood, ISSN 0006-4971, 06/2003, Volume 101, Issue 12, pp. 4660 - 4666
Life Sciences & Biomedicine | Hematology | Science & Technology | Hematologic and hematopoietic diseases | Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis | Biological and medical sciences | Medical sciences | Hypereosinophilic Syndrome - drug therapy | Endomyocardial Fibrosis - enzymology | Myeloproliferative Disorders - enzymology | Prognosis | Tryptases | Humans | Middle Aged | mRNA Cleavage and Polyadenylation Factors - chemistry | Molecular Sequence Data | Male | Oncogene Proteins, Fusion | Base Sequence | Gene Deletion | Adult | Female | Endomyocardial Fibrosis - pathology | Eosinophils - pathology | Hypereosinophilic Syndrome - pathology | mRNA Cleavage and Polyadenylation Factors - genetics | Lung Diseases - enzymology | Amino Acid Sequence | Receptor, Platelet-Derived Growth Factor alpha - chemistry | Piperazines - therapeutic use | Vitamin B 12 - blood | Hypereosinophilic Syndrome - enzymology | Reverse Transcriptase Polymerase Chain Reaction | Imatinib Mesylate | Chromosomes, Human, Pair 4 | Biopsy | Pyrimidines - therapeutic use | Receptor, Platelet-Derived Growth Factor alpha - genetics | Bone Marrow - pathology | Mast Cells - pathology | Serine Endopeptidases - blood | Adolescent | Fibrosis | Splenomegaly - enzymology | Leukocytes, Mononuclear - enzymology | Aged | Mastocytosis - enzymology | Benzamides | RNA - blood | Index Medicus | Abridged Index Medicus
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8. Full Text Telomerase mutations in smokers with severe emphysema
by Stanley, Susan E and Chen, Julian J. L and Podlevsky, Joshua D and Alder, Jonathan K and Hansel, Nadia N and Mathias, Rasika A and Qi, Xiaodong and Rafaels, Nicholas M and Wise, Robert A and Silverman, Edwin K and Barnes, Kathleen C and Armanios, Mary
The Journal of clinical investigation, ISSN 0021-9738, 02/2015, Volume 125, Issue 2, pp. 563 - 570
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Chromosome Disorders - epidemiology | Prevalence | Pneumothorax - enzymology | Humans | Middle Aged | Male | Pulmonary Fibrosis - genetics | Pulmonary Fibrosis - epidemiology | Incidence | Telomerase - genetics | Chromosome Disorders - enzymology | Pulmonary Emphysema - genetics | Adult | Female | Registries | Telomerase - metabolism | Telomere - genetics | Chromosome Disorders - pathology | alpha 1-Antitrypsin - genetics | Pneumothorax - epidemiology | Pulmonary Emphysema - pathology | Smoking - genetics | Pulmonary Fibrosis - pathology | Sex Characteristics | Smoking - metabolism | Pneumothorax - pathology | Telomere - pathology | Animals | Smoking - epidemiology | Pulmonary Fibrosis - enzymology | Telomere - enzymology | Sex Factors | Smoking - pathology | Mice | Pneumothorax - genetics | alpha 1-Antitrypsin - metabolism | Mutation | Pulmonary Emphysema - epidemiology | Chromosome Disorders - genetics | Pulmonary Emphysema - enzymology | Smokers | Gene mutations | Emphysema, Pulmonary | Genetic aspects | Telomerase | Identification and classification | Health aspects | Risk factors | Enzymes | Liver diseases | Pulmonary fibrosis | Cloning | Cell division | Chronic obstructive pulmonary disease | Emphysema | Deoxyribonucleic acid--DNA | Index Medicus | Abridged Index Medicus
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9. Full Text Pharmacological inhibition of ERK signaling rescues pathophysiology and behavioral phenotype associated with 16p11.2 chromosomal deletion in mice
by Pucilowska, Joanna and Vithayathil, Joseph and Pagani, Marco and Kelly, Caitlin and Karlo, J. Colleen and Robol, Camilla and Morella, Ilaria and Gozzi, Alessandro and Brambilla, Riccardo and Landreth, Gary E
The Journal of neuroscience, ISSN 0270-6474, 07/2018, Volume 38, Issue 30, pp. 6640 - 6652
Neurodevelopment | Autism | Cortical development | ERK MAP kinases | 16p11 | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Chromosome Deletion | Peptides | Chromosomes, Human, Pair 16 - drug effects | Enzyme Inhibitors - pharmacology | Fetus - drug effects | Pregnancy | Phenotype | Animals | MAP Kinase Signaling System - drug effects | Chromosome Disorders - enzymology | Autistic Disorder - enzymology | Intellectual Disability - enzymology | Female | Chromosomes, Human, Pair 16 - enzymology | Mice | Neurogenesis - drug effects | Brain | Phenotypes | Brain architecture |