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Proceedings of the National Academy of Sciences - PNAS, ISSN 1091-6490, 2010, Volume 107, Issue 34, pp. 15140 - 15144
Between the genetic extremes of rare monogenic and common polygenic diseases lie diverse oligogenic disorders involving mutations in more than one locus in each affected individual... 
Deficiency diseases | Sex hormones | Nervous system diseases | Disease models | Medical genetics | Genetic diseases | Genetic mutation | Kallmann syndrome | Human genetics | Hypogonadism | Rare variant | Digenic | Idiopathic hypogonadotropic hypogonadism | FGFR1 | CONTRIBUTE | idiopathic hypogonadotropic hypogonadism | MULTIDISCIPLINARY SCIENCES | CLINICAL HETEROGENEITY | digenic | PROKINETICIN-2 | GENE | LINKED KALLMANN-SYNDROME | MUTATIONS | FIBROBLAST-GROWTH-FACTOR-RECEPTOR-1 | GNRH RECEPTOR | rare variant | DELETIONS | Receptors, LHRH - genetics | Humans | Male | Gene Regulatory Networks | Receptor, Fibroblast Growth Factor, Type 1 - genetics | Case-Control Studies | Receptors, Peptide - genetics | Genetic Variation | DNA Mutational Analysis | Female | Neuropeptides - genetics | Fibroblast Growth Factor 8 - genetics | Kallmann Syndrome - genetics | Extracellular Matrix Proteins - genetics | Transcription Factors - genetics | Nerve Tissue Proteins - genetics | Hypogonadism - genetics | Homozygote | Phenotype | Pedigree | Gastrointestinal Hormones - genetics | Heterozygote | Models, Genetic | Receptors, G-Protein-Coupled - genetics | Mutation | Receptors, Kisspeptin-1 | Gonadotropin-Releasing Hormone - deficiency | Cohort Studies | Multifactorial diseases | Genetic aspects | Hormones | Gonadotropin | Health aspects | Biological Sciences
Journal Article
Nature communications, ISSN 2041-1723, 2015, Volume 6, Issue 1, p. 6120
Journal Article
American journal of human genetics, ISSN 0002-9297, 2011, Volume 88, Issue 3, pp. 306 - 316
Journal Article
PLoS genetics, ISSN 1553-7404, 2013, Volume 9, Issue 10, p. e1003880
Journal Article
PLoS medicine, ISSN 1549-1676, 2017, Volume 14, Issue 4, p. e1002287
Introduction The molecular underpinnings of the dissociation of cognitive performance and neuropathological burden are poorly understood, and there are currently no known genetic or epigenetic... 
OLDER PERSONS | MEDICINE, GENERAL & INTERNAL | DEMENTIA | RESERVE | ALZHEIMERS-DISEASE | TDP-43 PATHOLOGY | BRAIN DNA METHYLATION | EXPRESSION | GENOME-WIDE ASSOCIATION | DECLINE | IMPAIRMENT | Epigenesis, Genetic | Humans | Memory | Cognition Disorders - metabolism | Male | Brain - metabolism | DNA Methylation | Depression - metabolism | TDP-43 Proteinopathies - genetics | Aging - genetics | Aged, 80 and over | Cognition - physiology | Female | Membrane Proteins - metabolism | Microfilament Proteins - metabolism | Neuropeptides - genetics | Nuclear Proteins - genetics | Microfilament Proteins - genetics | Netrin Receptors | RNA - metabolism | Genome-Wide Association Study | Membrane Proteins - genetics | Brain - physiopathology | Receptors, Cell Surface - metabolism | Genotype | Neuropeptides - metabolism | Nuclear Proteins - metabolism | Cognition Disorders - genetics | Nerve Tissue Proteins - genetics | Linkage Disequilibrium | Nerve Tissue Proteins - metabolism | Aging - physiology | Alleles | Alzheimer Disease - metabolism | Brain - pathology | Aged | Polymorphism, Single Nucleotide | Alzheimer Disease - genetics | Receptors, Cell Surface - genetics | RNA sequencing | Epigenetic inheritance | Analysis | Genetic aspects | Research | Genetic transcription | Cognition disorders | Risk factors | RNA | Genes | Genomics | Genetic research | Cognition | Methylation | Haplotypes | Brain | Nuclear medicine | Neurosciences | Transcription | Neuropathology | Religious orders | Linkage disequilibrium | Cognitive ability | Genomes | Single-nucleotide polymorphism | Mental depression | Population genetics | Composition effects | Medical schools | Convergence | Gene sequencing | Proteins | Consortia | Demographics | Genetic analysis | DNA methylation | Lead | Amyloid | Deoxyribonucleic acid--DNA | Departments | Health risks | Regression analysis | Prefrontal cortex | Risk analysis | Gene expression | Ribonucleic acid--RNA | Studies | Neurology | Hospitals | Cognition & reasoning | Epigenetics | Psychiatry | Deoxyribonucleic acid | Ribonucleic acid | DNA
Journal Article
The Journal of clinical investigation, ISSN 0021-9738, 2012, Volume 122, Issue 6, pp. 1991 - 2005
Journal Article
The Journal of clinical investigation, ISSN 1558-8238, 2017, Volume 127, Issue 4, pp. 1284 - 1302
.... Conversely, genetic ablation of Whsc1 prevented tumor progression in PTEN-null mice. Molecular characterization revealed that increased AKT activity due to PTEN loss... 
MULTIPLE-MYELOMA | MEDICINE, RESEARCH & EXPERIMENTAL | PTEN LOSS | LYSINE 36 | ACTIVATION | MMSET | GENE | WOLF-HIRSCHHORN-SYNDROME | EXPRESSION | PROGRESSION | EZH2 | Prostatic Neoplasms - metabolism | TOR Serine-Threonine Kinases - metabolism | Epigenesis, Genetic | Gene Expression Regulation, Neoplastic | Male | Multiprotein Complexes - genetics | Phosphatidylinositol 3-Kinases - metabolism | Mechanistic Target of Rapamycin Complex 2 | Proto-Oncogene Proteins c-akt - genetics | Multiprotein Complexes - metabolism | Neoplasm Metastasis | Phosphorylation - genetics | Prostatic Neoplasms - genetics | TOR Serine-Threonine Kinases - genetics | Transcription, Genetic | Enzyme Stability - genetics | Neuropeptides - genetics | Proto-Oncogene Proteins c-akt - metabolism | Rapamycin-Insensitive Companion of mTOR Protein | PTEN Phosphohydrolase - genetics | Prostatic Neoplasms - pathology | Histone-Lysine N-Methyltransferase - genetics | Signal Transduction | Carrier Proteins - biosynthesis | PTEN Phosphohydrolase - metabolism | Mice, Transgenic | Neuropeptides - metabolism | Phosphatidylinositol 3-Kinases - genetics | Carrier Proteins - genetics | Animals | Histone-Lysine N-Methyltransferase - metabolism | Mice | rac1 GTP-Binding Protein - metabolism | Cell Movement | rac1 GTP-Binding Protein - genetics | Care and treatment | Methyltransferases | Development and progression | Genetic aspects | Cellular signal transduction | Health aspects | Prostate cancer | Genomics | Metastasis | Kinases | Gene expression | Phosphatase | Experiments | Studies | Epigenetics | Genetic engineering | Tumorigenesis | Mutation | Laboratory animals | Tumors
Journal Article