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EMBO reports, ISSN 1469-221X, 02/2007, Volume 8, Issue 2, pp. 141 - 146
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Amino Acid Sequence | Amyloid Precursor Protein Secretases - genetics | Peptide Fragments - metabolism | Models, Biological | Humans | Presenilins - metabolism | Amyloid beta-Peptides - metabolism | Molecular Sequence Data | Presenilins - genetics | Protein Conformation | Alzheimer Disease - genetics | Mutation - genetics | Enzymes | Genetics | Biochemistry | Mutation | Alzheimers disease | Index Medicus | Review | gain or loss of function | Alzheimer | presenilin
Journal Article
The New England journal of medicine, ISSN 0028-4793, 04/2005, Volume 352, Issue 17, pp. 1779 - 1790
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Hematologic and hematopoietic diseases | Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis | Biological and medical sciences | General aspects | Medical sciences | Amino Acid Sequence | Humans | Middle Aged | Leukemia, Myelogenous, Chronic, BCR-ABL Positive - genetics | Molecular Sequence Data | Male | Polycythemia Vera - genetics | Proto-Oncogene Proteins - genetics | Chromosomes, Human, Pair 9 | Loss of Heterozygosity | Case-Control Studies | Janus Kinase 2 | Point Mutation | Primary Myelofibrosis - genetics | Protein-Tyrosine Kinases - genetics | DNA Mutational Analysis | Adolescent | Aged, 80 and over | Adult | Female | Aged | Microsatellite Repeats | Thrombocytosis - genetics | Research | Diagnosis | Gene mutations | Myeloproliferative disorders | Risk factors | Hematopoietic growth factors | Medical treatment | Blood | Deoxyribonucleic acid--DNA | Index Medicus | Abridged Index Medicus
Journal Article
British journal of dermatology (1951), ISSN 0007-0963, 12/2015, Volume 173, Issue 6, pp. 1505 - 1513
Life Sciences & Biomedicine | Dermatology | Science & Technology | Odontodysplasia - pathology | Humans | Vascular Calcification - genetics | Child, Preschool | Infant | Male | Metacarpus - abnormalities | Nervous System Diseases - genetics | Autoimmune Diseases of the Nervous System - pathology | Interferon-Induced Helicase, IFIH1 | Skin Diseases, Genetic - genetics | Tooth Loss - genetics | Autoimmune Diseases of the Nervous System - genetics | Adult | Osteoporosis - genetics | Nervous System Malformations - genetics | Chilblains - genetics | Aortic Diseases - pathology | Nervous System Malformations - pathology | Skin Diseases, Genetic - pathology | Lupus Erythematosus, Cutaneous - genetics | Muscular Diseases - pathology | Mutation - genetics | Vascular Calcification - pathology | DEAD-box RNA Helicases - genetics | Aortic Diseases - genetics | Phenotype | Osteoporosis - pathology | Metacarpus - pathology | Heterozygote | Odontodysplasia - genetics | Muscular Diseases - genetics | Dental Enamel Hypoplasia - pathology | Dental Enamel Hypoplasia - genetics | Index Medicus | Life Sciences
Journal Article
Acta neuropathologica communications, ISSN 2051-5960, 07/2017, Volume 5, Issue 1, pp. 59 - 59
GABA | Loss of function | Recessive mutation | Alzheimer’s disease | Knockin mouse | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | gamma-Aminobutyric Acid - metabolism | Humans | tau Proteins - metabolism | Male | Mice, 129 Strain | Alzheimer Disease - pathology | Diazepam - pharmacology | Brain - metabolism | Amyloid beta-Protein Precursor - metabolism | GABA Modulators - pharmacology | Mice, Inbred DBA | GABAergic Neurons - metabolism | Disease Models, Animal | Genetic Predisposition to Disease | Tissue Culture Techniques | Mice, Inbred C57BL | Spatial Memory - physiology | Alzheimer Disease - drug therapy | GABAergic Neurons - drug effects | Mice, Transgenic | GABAergic Neurons - pathology | Genes, Recessive | Gene Knock-In Techniques | Brain - drug effects | Amyloid beta-Protein Precursor - genetics | Animals | Spatial Memory - drug effects | Alzheimer Disease - metabolism | Brain - pathology | Mutation | Alzheimer Disease - genetics | Oligomers | Genetic aspects | Comparative analysis | Alzheimer's disease | Amyloid beta-protein | Peptides | Pathogenesis | Cognitive ability | Proteins | Transgenic animals | Rodents | Stem cells | Aging | Chromosomes | Deoxyribonucleic acid--DNA | Animal cognition | Dementia | Index Medicus | Research
Journal Article
Brain (London, England : 1878), ISSN 0006-8950, 2016, Volume 139, Issue 3, pp. 674 - 691
Foetal akinesia | Loss-of-function mutation | Congenital myopathy | Foetal hypokinesia | SCN4A | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Severity of Illness Index | NAV1.4 Voltage-Gated Sodium Channel - genetics | Humans | Xenopus laevis | Child, Preschool | Male | Myopathies, Structural, Congenital - genetics | Mutation - genetics | Animals | Pedigree | Hypokinesia - diagnosis | Adolescent | HEK293 Cells | Hypokinesia - genetics | Adult | Female | Myopathies, Structural, Congenital - diagnosis | Child | Infant, Newborn | Index Medicus | Abridged Index Medicus | loss-of-function mutation | foetal hypokinesia | Original | foetal akinesia | congenital myopathy
Journal Article
British journal of dermatology (1951), ISSN 0007-0963, 12/2010, Volume 163, Issue 6, pp. 1333 - 1336
eczema | atopic dermatitis | transepidermal water loss | atopic eczema | filaggrin | Life Sciences & Biomedicine | Dermatology | Science & Technology | Immunopathology | Biological and medical sciences | Allergic diseases | Medical sciences | Skin allergic diseases. Stinging insect allergies | Eczema - genetics | Genetic Predisposition to Disease | Skin - metabolism | Humans | Child, Preschool | Genotype | Infant | Male | Water Loss, Insensible - genetics | Phenotype | DNA Mutational Analysis | Eczema - pathology | Intermediate Filament Proteins - genetics | Female | Mutation | Water | Genetic aspects | Infants | Asthma in children | Atopic dermatitis | Eczema | Index Medicus
Journal Article
Cell (Cambridge), ISSN 0092-8674, 04/2014, Volume 157, Issue 3, pp. 595 - 610
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | PTEN Phosphohydrolase - genetics | Signal Transduction | Humans | Protein Multimerization | PTEN Phosphohydrolase - metabolism | Male | Loss of Heterozygosity | Animals | Embryo, Mammalian - cytology | Female | Mice | Mutation | Proto-Oncogene Proteins c-akt - metabolism | Analysis | Cancer | Index Medicus
Journal Article
Arteriosclerosis, thrombosis, and vascular biology, ISSN 1079-5642, 03/2018, Volume 38, Issue 3, pp. 660 - 668
Genetics | Triglycerides | Cardiovascular diseases | Humans | Risk factors | Dyslipidemias - genetics | Genetic Predisposition to Disease | Loss of Function Mutation | Risk Assessment | Middle Aged | Risk Factors | Male | Apolipoprotein C-III - genetics | Cardiovascular Diseases - genetics | Dyslipidemias - blood | Phenotype | Chylomicron Remnants - blood | Dyslipidemias - epidemiology | Cardiovascular Diseases - blood | Cardiovascular Diseases - epidemiology | Denmark - epidemiology | Adult | Cholesterol, LDL - blood | Female | Heterozygote | Aged | Dyslipidemias - diagnosis | Cardiovascular Diseases - diagnosis | Index Medicus
Journal Article
Cancers, ISSN 2072-6694, 06/2018, Volume 10, Issue 6, p. 188
HSP90 | Mutant p53 (mutp53) | P53 loss-of-heterozygosity (LOH) | HSF1 | Drug therapy | Gain-of-function (GOF) | Missense p53 | Life Sciences & Biomedicine | Oncology | Science & Technology | Ubiquitin | Hsp90 protein | MDM2 protein | Animal models | Therapeutic applications | p53 Protein | Chemoresistance | Missense mutant | Metastasis | Metastases | Proteins | Life span | Alleles | Tumors | Cancer | Mutation | Deoxyribonucleic acid--DNA | drug therapy | gain-of-function (GOF) | mutant p53 (mutp53) | missense p53 | Review | p53 loss-of-heterozygosity (LOH)
Journal Article