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1. Full Text ADAM10 Missense Mutations Potentiate β-Amyloid Accumulation by Impairing Prodomain Chaperone Function
by Suh, Jaehong and Choi, Se Hoon and Romano, Donna M and Gannon, Moira A and Lesinski, Andrea N and Kim, Doo Yeon and Tanzi, Rudolph E
Neuron (Cambridge, Mass.), ISSN 0896-6273, 10/2013, Volume 80, Issue 2, pp. 385 - 401
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Amyloid Precursor Protein Secretases - genetics | Molecular Chaperones - metabolism | ADAM Proteins - physiology | Amyloid Precursor Protein Secretases - physiology | Humans | Brain - enzymology | Male | Brain - physiology | Mutation, Missense - genetics | Alzheimer Disease - pathology | Gliosis - pathology | Neurogenesis - genetics | Amyloid beta-Peptides - genetics | Membrane Proteins - physiology | Amyloid beta-Peptides - metabolism | Female | Membrane Proteins - metabolism | Genetic Predisposition to Disease - genetics | Membrane Proteins - genetics | Molecular Chaperones - genetics | ADAM10 Protein | Mice, Transgenic | Alzheimer Disease - enzymology | ADAM Proteins - metabolism | Amyloid Precursor Protein Secretases - metabolism | Animals | Brain - pathology | Plaque, Amyloid - metabolism | Mice | ADAM Proteins - genetics | Alzheimer Disease - genetics | Hippocampus - physiology | Index Medicus | APP | Aβ | ADAM10 | Alzheimer’s disease | chaperone | prodomain
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2. Full Text Perturbed Length-Dependent Activation in Human Hypertrophic Cardiomyopathy With Missense Sarcomeric Gene Mutations
by Sequeira Oliveira, V and Wijnker, P.J.M and Nijenkamp, L.L.A.M and Kuster, D.W.D and Najafi, A and Witjas-Paalberends, E.R and Regan, J.A and Boontje, N and ten Cate, F.J and Germans, T and Carrier, L and Sadayappan, S and van Slegtenhorst, M.A and Zaremba, R and Foster, D.B and Murphy, A.M and Poggesi, C and dos Remedios, C and Stienen, G.J.M and Ho, C.Y and Michels, M and van der Velden, J
Circulation research, ISSN 0009-7330, 2013, Volume 112, Issue 11, pp. 1491 - 1505
myocardium | calcium | cardiomyopathy | hypertrophy | contractility | Cardiac & Cardiovascular Systems | Peripheral Vascular Disease | Life Sciences & Biomedicine | Hematology | Cardiovascular System & Cardiology | Science & Technology | Phosphorylation - physiology | Tropomyosin - genetics | Calcium - metabolism | Myofibrils - pathology | Humans | Middle Aged | Myocardial Contraction - physiology | Myosin Heavy Chains - genetics | Male | Mutation, Missense | Sarcomeres - pathology | Young Adult | Myocardium - metabolism | Adult | Female | Sarcomeres - physiology | Isometric Contraction - physiology | Cyclic AMP-Dependent Protein Kinases - metabolism | Troponin T - genetics | Cardiomyopathy, Hypertrophic - genetics | MAP Kinase Kinase Kinases - genetics | Cardiac Myosins - genetics | Myocardium - pathology | Myofibrils - physiology | Carrier Proteins - genetics | Animals | Cardiomyopathy, Hypertrophic - physiopathology | Adolescent | Aged | Mice | Cardiomyopathy, Hypertrophic - pathology | Index Medicus
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3. Full Text Behavioral Phenotypes of Disc1 Missense Mutations in Mice
by Clapcote, Steven J and Lipina, Tatiana V and Millar, J. Kirsty and Mackie, Shaun and Christie, Sheila and Ogawa, Fumiaki and Lerch, Jason P and Trimble, Keith and Uchiyama, Masashi and Sakuraba, Yoshiyuki and Kaneda, Hideki and Shiroishi, Toshihiko and Houslay, Miles D and Henkelman, R. Mark and Sled, John G and Gondo, Yoichi and Porteous, David J and Roder, John C
Neuron (Cambridge, Mass.), ISSN 0896-6273, 2007, Volume 54, Issue 3, pp. 387 - 402
SYSNEURO | HUMDISEASE | MOLNEURO | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Protein Binding - genetics | Brain - anatomy & histology | Cyclic Nucleotide Phosphodiesterases, Type 4 | Humans | Male | DNA Mutational Analysis - methods | Mice, Mutant Strains - physiology | Mutation, Missense - genetics | Alanine - genetics | Threonine - genetics | Behavior, Animal - drug effects | Female | Leucine - genetics | Neural Inhibition - genetics | 3',5'-Cyclic-AMP Phosphodiesterases - metabolism | Mice, Inbred C57BL | Behavior, Animal - physiology | Nerve Tissue Proteins - genetics | Subcellular Fractions - metabolism | Phenotype | Animals | Mice, Mutant Strains - anatomy & histology | Glutamine - genetics | Mice | Reflex, Acoustic - genetics | Genetic aspects | Proteins | Studies | Medical research | Signal transduction | Brain research | Mental disorders | Mutagenesis | Rodents | Memory | Mutation | Behavior | Index Medicus
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4. Full Text A Missense Single-Nucleotide Polymorphism in a Gene Encoding a Protein Tyrosine Phosphatase ( PTPN22) Is Associated with Rheumatoid Arthritis
by Begovich, Ann B and Carlton, Victoria E.H and Honigberg, Lee A and Schrodi, Steven J and Chokkalingam, Anand P and Alexander, Heather C and Ardlie, Kristin G and Huang, Qiqing and Smith, Ashley M and Spoerke, Jill M and Conn, Marion T and Chang, Monica and Chang, Sheng-Yung P and Saiki, Randall K and Catanese, Joseph J and Leong, Diane U and Garcia, Veronica E and McAllister, Linda B and Jeffery, Douglas A and Lee, Annette T and Batliwalla, Franak and Remmers, Elaine and Criswell, Lindsey A and Seldin, Michael F and Kastner, Daniel L and Amos, Christopher I and Sninsky, John J and Gregersen, Peter K
American journal of human genetics, ISSN 0002-9297, 2004, Volume 75, Issue 2, pp. 330 - 337
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | General aspects. Genetic counseling | Inflammatory joint diseases | Biological and medical sciences | Medical sciences | Diseases of the osteoarticular system | Medical genetics | Arthritis, Rheumatoid - genetics | Protein Tyrosine Phosphatases - genetics | Protein Tyrosine Phosphatase, Non-Receptor Type 1 | Gene Frequency | Humans | RNA, Messenger - physiology | Molecular Sequence Data | Polymorphism, Single Nucleotide | Mutation, Missense | Organ Specificity - physiology | Genetic research | Research | Nucleotides | Statistics | Rheumatoid arthritis | Index Medicus | Report
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5. Full Text Suppression of STING signaling through epigenetic silencing and missense mutation impedes DNA damage mediated cytokine production
by Konno, Hiroyasu and Yamauchi, Shota and Berglund, Anders and Putney, Ryan M and Mulé, James J and Barber, Glen N
Oncogene, ISSN 0950-9232, 04/2018, Volume 37, Issue 15, pp. 2037 - 2051
Biochemistry & Molecular Biology | Oncology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Neoplasms - metabolism | Humans | Gene Knockdown Techniques | Epigenesis, Genetic - physiology | Signal Transduction - immunology | Neoplasms - genetics | Cytokines - toxicity | HEK293 Cells | Inflammation Mediators - metabolism | DNA Damage - genetics | Vero Cells | Chlorocebus aethiops | Cytokines - metabolism | Membrane Proteins - genetics | Cells, Cultured | Inflammation Mediators - toxicity | Signal Transduction - genetics | Mice, Knockout | Mutation, Missense - physiology | Animals | Neoplasms - immunology | Nucleotidyltransferases - genetics | Cytoprotection - genetics | Mice | Gene Silencing - physiology | Gene silencing | Immune response | DNA damage | Development and progression | Genetic aspects | Interferon | Single nucleotide polymorphisms | Health aspects | Cancer | Phenotypes | Transformation | Cytokines | Melanoma | Immunosurveillance | Inflammation | Ribonucleic acid--RNA | Nuclei | Signal transduction | Missense mutation | Colon cancer | Epigenetics | Mutation | Deoxyribonucleic acid--DNA | Tumors | Index Medicus
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6. Full Text Biased signaling through G‐protein‐coupled PROKR2 receptors harboring missense mutations
by Sbai, Oualid and Monnier, Carine and Dodé, Catherine and Pin, Jean‐Philippe and Hardelin, Jean‐Pierre and Rondard, Philippe
The FASEB journal, ISSN 0892-6638, 08/2014, Volume 28, Issue 8, pp. 3734 - 3744
β‐arrestin | prokineticin | Kallmann syndrome | β-arrestin | Prokineticin | Biochemistry & Molecular Biology | Biology | Life Sciences & Biomedicine - Other Topics | Life Sciences & Biomedicine | Science & Technology | Cell Biology | GTP-Binding Protein alpha Subunits, Gs - metabolism | Receptors, Peptide - physiology | Calcium Signaling - physiology | Humans | Mutation, Missense | Arrestins - metabolism | Recombinant Fusion Proteins - metabolism | Receptors, Peptide - genetics | Transfection | Gastrointestinal Hormones - metabolism | HEK293 Cells | GTP-Binding Protein alpha Subunits, Gq-G11 - metabolism | Receptors, G-Protein-Coupled - physiology | Mutagenesis, Site-Directed | Kallmann Syndrome - genetics | Models, Molecular | Neuropeptides - metabolism | Signal Transduction - genetics | Protein Transport | beta-Arrestins | Protein Binding | Protein Conformation | Signal Transduction - physiology | Receptors, G-Protein-Coupled - genetics | Calcium Signaling - genetics | GTP-Binding Protein alpha Subunits, Gi-Go - metabolism | Index Medicus | Life Sciences
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7. Full Text A Missense Variant at the Nrxn3 Locus Enhances Empathy Fear in the Mouse
by Keum, Sehoon and Kim, Arie and Shin, Jae Jin and Kim, Jong-Hyun and Park, Joomin and Shin, Hee-Sup
Neuron (Cambridge, Mass.), ISSN 0896-6273, 05/2018, Volume 98, Issue 3, pp. 588 - 601.e5
empathy | observational fear | somatostatin interneuron | neurexin 3 | anterior cingulate cortex | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Species Specificity | Male | Genetic Loci - physiology | Mice, 129 Strain | Fear - physiology | Nerve Tissue Proteins - genetics | Genetic Variation - physiology | Mice, Inbred ICR | Mutation, Missense - physiology | Animals | Empathy - physiology | Fear - psychology | Mice | Brain | Neurons | Tryptophan | GABA | Social aspects | Mental illness | Neurophysiology | CRISPR | Cortex (cingulate) | Interneurons | Mental disorders | Genes | Singers | Empathy | Genomes | Experiments | Variance analysis | Emotions | Fear | Social interactions | Arginine | Synaptic transmission | Genetic engineering | Somatostatin | Behavior | Index Medicus
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8. Full Text Vibratory Urticaria Associated with a Missense Variant in ADGRE2
by Boyden, Steven E and Desai, Avanti and Cruse, Glenn and Young, Michael L and Bolan, Hyejeong C and Scott, Linda M and Eisch, A. Robin and Long, R. Daniel and Lee, Chyi-Chia R and Satorius, Colleen L and Pakstis, Andrew J and Olivera, Ana and Mullikin, James C and Chouery, Eliane and Mégarbané, André and Medlej-Hashim, Myrna and Kidd, Kenneth K and Kastner, Daniel L and Metcalfe, Dean D and Komarow, Hirsh D
The New England journal of medicine, ISSN 0028-4793, 02/2016, Volume 374, Issue 7, pp. 656 - 663
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Vibration - adverse effects | Receptors, G-Protein-Coupled - metabolism | Humans | Middle Aged | Urticaria - genetics | Male | Mast Cells - physiology | Mutation, Missense | Lebanon | Urticaria - blood | Urticaria - etiology | Cell Degranulation - genetics | Biopsy | Pedigree | Female | Histamine - blood | Receptors, G-Protein-Coupled - genetics | Skin - pathology | Immunoglobulin E | Care and treatment | Research | Artificial skin | Urticaria | Tyrosine | Histamine | Dermatology | Degranulation | Amino acids | Skin diseases | Skin | Mast cells | Mutation | Dermatitis | Index Medicus | Abridged Index Medicus
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