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1. Full Text Loss-of-function presenilin mutations in Alzheimer disease. Talking Point on the role of presenilin mutations in Alzheimer disease
by De Strooper, Bart
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
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2. Full Text A Gain-of-Function Mutation of JAK2 in Myeloproliferative Disorders
by Kralovics, Robert and Passamonti, Francesco and Buser, Andreas S and Teo, Soon-Siong and Tiedt, Ralph and Passweg, Jakob R and Tichelli, Andre and Cazzola, Mario and Skoda, Radek C
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
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3. Full Text Unusual cutaneous features associated with a heterozygous gain‐of‐function mutation in IFIH1: overlap between Aicardi‐Goutières and Singleton‐Merten syndromes
by Bursztejn, A.‐C and Briggs, T.A and del Toro Duany, Y and Anderson, B.H and O'Sullivan, J and Williams, S.G and Bodemer, C and Fraitag, S and Gebhard, F and Leheup, B and Lemelle, I and Oojageer, A and Raffo, E and Schmitt, E and Rice, G.I and Hur, S and Crow, Y.J
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
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4. Full Text Mutation-induced loss of APP function causes GABAergic depletion in recessive familial Alzheimer's disease: analysis of Osaka mutation-knockin mice
by Umeda, Tomohiro and Kimura, Tetsuya and Yoshida, Kayo and Takao, Keizo and Fujita, Yuki and Matsuyama, Shogo and Sakai, Ayumi and Yamashita, Minato and Yamashita, Yuki and Ohnishi, Kiyouhisa and Suzuki, Mamiko and Takuma, Hiroshi and Miyakawa, Tsuyoshi and Takashima, Akihiko and Morita, Takashi and Mori, Hiroshi and Tomiyama, Takami
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
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5. Full Text Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy
by Zaharieva, I.T and Thor, M.G and Oates, E.C and Karnebeek, C. van and Hendson, G and Blom, E and Witting, N and Rasmussen, M and Gabbett, M.T and Ravenscroft, G and Sframeli, M and Suetterlin, K and Sarkozy, A and D'Argenzio, L and Hartley, L and Matthews, E and Pitt, M and Vissing, J and Ballegaard, M and Krarup, C and Slordahl, A and Halvorsen, H and Ye, X.C and Zhang, L.H and Lokken, N and Werlauff, U and Abdelsayed, M and Davis, M.R and Feng, L and Phadke, R and Sewry, C.A and Morgan, J.E and Laing, N.G and Vallance, H and Ruben, P and Hanna, M.G and Lewis, S and Kamsteeg, E.J and Mannikko, R and Muntoni, F
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
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6. Full Text Filaggrin loss‐of‐function mutations are associated with early‐onset eczema, eczema severity and transepidermal water loss at 3 months of age
by Flohr, C and England, K and Radulovic, S and McLean, W.H.I and Campbell, L.E and Barker, J and Perkin, M and Lack, G
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
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7. Full Text Cancer-Associated PTEN Mutants Act in a Dominant-Negative Manner to Suppress PTEN Protein Function
by Papa, Antonella and Wan, Lixin and Bonora, Massimo and Salmena, Leonardo and Song, Min Sup and Hobbs, Robin M and Lunardi, Andrea and Webster, Kaitlyn and Ng, Christopher and Newton, Ryan H and Knoblauch, Nicholas and Guarnerio, Jlenia and Ito, Keisuke and Turka, Laurence A and Beck, Andy H and Pinton, Paolo and Bronson, Roderick T and Wei, Wenyi and Pandolfi, Pier Paolo
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
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8. Full Text APOC3 Loss-of-Function Mutations, Remnant Cholesterol, Low-Density Lipoprotein Cholesterol, and Cardiovascular Risk: Mediation- and Meta-Analyses of 137 895 Individuals
by Wulff, Anders B and Nordestgaard, Børge G and Tybjærg-Hansen, Anne
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
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9. Full Text Gain-of-function (GOF) mutant p53 as actionable therapeutic target
by Schulz-Heddergott, Ramona and Moll, Ute M
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)
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