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1. Full Text Germline MC1R status influences somatic mutation burden in melanoma
by Robles-Espinoza, Carla Daniela and Roberts, Nicola D and Chen, Shuyang and Leacy, Finbarr P and Alexandrov, Ludmil B and Pornputtapong, Natapol and Halaban, Ruth and Krauthammer, Michael and Cui, Rutao and Timothy Bishop, D and Adams, David J
Nature communications, ISSN 2041-1723, 07/2016, Volume 7, Issue 1, pp. 12064 - 12064
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Mutation Accumulation | Skin Neoplasms - pathology | Genetic Predisposition to Disease | Neoplasm Invasiveness | Humans | Middle Aged | Receptor, Melanocortin, Type 1 - genetics | Male | Melanoma - pathology | Germ-Line Mutation - genetics | Genetic Variation | Hair Color | Melanoma - genetics | Skin Neoplasms - genetics | Alleles | Skin Pigmentation | Female | Head and Neck Neoplasms - genetics | Aged | Melanosis | Polymorphism, Single Nucleotide | Mutation | Cohort Studies | Index Medicus
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2. Full Text KLOTHO heterozygosity attenuates APOE4-related amyloid burden in preclinical AD
by Erickson, Claire M and Schultz, Stephanie A and Oh, Jennifer M and Darst, Burcu F and Ma, Yue and Norton, Derek and Betthauser, Tobey and Gallagher, Catherine L and Carlsson, Cynthia M and Bendlin, Barbara B and Asthana, Sanjay and Hermann, Bruce P and Sager, Mark A and Blennow, Kaj and Zetterberg, Henrik and Engelman, Corinne D and Christian, Bradley T and Johnson, Sterling C and Dubal, Dena B and Okonkwo, Ozioma C and Sahlgrenska akademin and Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi and Göteborgs universitet and Gothenburg University and Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry and Sahlgrenska Academy
Neurology, ISSN 0028-3878, 04/2019, Volume 92, Issue 16, pp. e1878 - e1889
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Apolipoprotein E4 - genetics | Amyloid beta-Peptides - genetics | Humans | Middle Aged | Adult | Heterozygote | Positron-Emission Tomography | Longevity | Alzheimer Disease - genetics | Wisconsin | Index Medicus | Abridged Index Medicus | 122 | 319 | gene | epsilon-4 allele | apoe | association | apolipoprotein-e | Klinisk medicin | functional variant | Clinical Medicine | cognitive | decline | risk | beta | alzheimers-disease
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3. Full Text JAK2(V617F) allele burden >= 50% is associated with response to ruxolitinib in persons with MPN-associated myelofibrosis and splenomegaly requiring therapy
by Barosi, G and Klersy, C and Villani, L and Bonetti, E and Catarsi, P and Poletto, V and Campanelli, R and Impera, S and Latagliata, R and Viarengo, G and Carolei, A and Massa, M and Musso, M and Crescimanno, A and Gale, R. P and Rosti, V
Leukemia, ISSN 0887-6924, 08/2016, Volume 30, Issue 8, pp. 1772 - 1775
Oncology | Life Sciences & Biomedicine | Hematology | Science & Technology | Primary Myelofibrosis - drug therapy | Pyrazoles - therapeutic use | Splenomegaly - drug therapy | Primary Myelofibrosis - complications | Humans | Middle Aged | Janus Kinase 2 - genetics | Proportional Hazards Models | Genotype | Male | Treatment Outcome | Antineoplastic Agents - therapeutic use | Myeloproliferative Disorders - drug therapy | Myeloproliferative Disorders - genetics | Primary Myelofibrosis - genetics | Alleles | Splenomegaly - etiology | Aged, 80 and over | Adult | Female | Aged | Myeloproliferative Disorders - complications | Index Medicus
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4. Full Text CR1 is associated with amyloid plaque burden and age‐related cognitive decline
by Chibnik, Lori B and Shulman, Joshua M and Leurgans, Sue E and Schneider, Julie A and Wilson, Robert S and Tran, Dong and Aubin, Cristin and Buchman, Aron S and Heward, Christopher B and Myers, Amanda J and Hardy, John A and Huentelman, Matthew J and Corneveaux, Jason J and Reiman, Eric M and Evans, Denis A and Bennett, David A and De Jager, Philip L
Annals of neurology, ISSN 0364-5134, 03/2011, Volume 69, Issue 3, pp. 560 - 569
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Biological and medical sciences | Medical sciences | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Age Factors | Humans | Middle Aged | Cognition Disorders - metabolism | Male | Alzheimer Disease - pathology | Brain - metabolism | Aged, 80 and over | Female | Genetic Predisposition to Disease | Genetic Association Studies | Plaque, Amyloid - pathology | Cognition Disorders - pathology | Genotype | Cognition Disorders - genetics | Plaque, Amyloid - genetics | Receptors, Complement 3b - metabolism | Analysis of Variance | Alleles | Alzheimer Disease - metabolism | Brain - pathology | Plaque, Amyloid - metabolism | Aged | Polymorphism, Single Nucleotide | Receptors, Complement 3b - genetics | Alzheimer Disease - genetics | Longitudinal Studies | Pathology | Genetics | Cognition & reasoning | Alzheimers disease | Religious orders | Index Medicus
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5. Full Text Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents
by Merlevede, Jane and Droin, Nathalie and Qin, Tingting and Meldi, Kristen and Yoshida, Kenichi and Morabito, Margot and Chautard, Emilie and Auboeuf, Didier and Fenaux, Pierre and Braun, Thorsten and Itzykson, Raphael and De Botton, Stéphane and Quesnel, Bruno and Commes, Thérèse and Jourdan, Eric and Vainchenker, William and Bernard, Olivier and Pata-Merci, Noemie and Solier, Stéphanie and Gayevskiy, Velimir and Dinger, Marcel E and Cowley, Mark J and Selimoglu-Buet, Dorothée and Meyer, Vincent and Artiguenave, François and Deleuze, Jean-François and Preudhomme, Claude and Stratton, Michael R and Alexandrov, Ludmil B and Padron, Eric and Ogawa, Seishi and Koscielny, Serge and Figueroa, Maria and Solary, Eric and Los Alamos National Lab. (LANL), Los Alamos, NM (United States)
Nature communications, ISSN 2041-1723, 02/2016, Volume 7, Issue 1, pp. 10767 - 10767
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Cell Survival - drug effects | Humans | Leukemia, Myelomonocytic, Chronic - genetics | Middle Aged | Azacitidine - analogs & derivatives | Male | Leukemia, Myelomonocytic, Chronic - drug therapy | Sequence Analysis, DNA | Azacitidine - pharmacology | Antimetabolites, Antineoplastic - therapeutic use | Sequence Analysis, RNA | Alleles | HEK293 Cells | Aged, 80 and over | Antimetabolites, Antineoplastic - pharmacology | Female | Aged | Epigenesis, Genetic - drug effects | High-Throughput Nucleotide Sequencing | Gene Expression Regulation, Neoplastic - drug effects | Mutation | DNA Methylation - drug effects | Azacitidine - therapeutic use | Index Medicus | cancer | genetics | BASIC BIOLOGICAL SCIENCES | biological sciences
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6. Full Text The effect of long-term ruxolitinib treatment on JAK2p.V617F allele burden in patients with myelofibrosis
by Deininger, Michael and Radich, Jerald and Burn, Timothy C and Huber, Reid and Paranagama, Dilan and Verstovsek, Srdan
Blood, ISSN 0006-4971, 09/2015, Volume 126, Issue 13, pp. 1551 - 1554
Life Sciences & Biomedicine | Hematology | Science & Technology | Primary Myelofibrosis - drug therapy | Pyrazoles - therapeutic use | Splenomegaly - drug therapy | Primary Myelofibrosis - complications | Splenomegaly - genetics | Humans | Janus Kinase 2 - genetics | Male | Spleen - drug effects | Primary Myelofibrosis - pathology | Splenomegaly - pathology | Point Mutation | Splenomegaly - complications | Primary Myelofibrosis - genetics | Spleen - metabolism | Alleles | Female | Spleen - pathology | Janus Kinase 2 - antagonists & inhibitors | Index Medicus | Abridged Index Medicus | Clinical Trials and Observations | Brief Report
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7. Full Text The JAK2 V617F allele burden in essential thrombocythemia, polycythemia vera and primary myelofibrosis – impact on disease phenotype
by Larsen, Thomas Stauffer and Pallisgaard, Niels and Møller, Michael Boe and Hasselbalch, Hans Carl
European journal of haematology, ISSN 0902-4441, 12/2007, Volume 79, Issue 6, pp. 508 - 515
primary myelofibrosis | JAK2 | polycythemia vera | quantitative PCR | essential trombocythemia | Polycythemia vera | Primary myelofibrosis | Essential trombocythemia | Quantitative PCR | Life Sciences & Biomedicine | Hematology | Science & Technology | Humans | Middle Aged | Gene Expression Regulation | Janus Kinase 2 - genetics | Male | Polycythemia Vera - genetics | Gene Expression Profiling | Thrombocythemia, Essential - genetics | Homozygote | Phenotype | Primary Myelofibrosis - genetics | Alleles | Aged, 80 and over | Adult | Female | Aged | Polycythemia | Genetic aspects | Index Medicus
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8. Full Text HLA Genetic Risk Burden in Multiple Sclerosis—Reply
by Isobe, Noriko and Oksenberg, Jorge R and Henry, Roland G
JAMA neurology, ISSN 2168-6149, 12/2016, Volume 73, Issue 12, pp. 1501 - 1502
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Genetic Predisposition to Disease | HLA-DRB1 Chains | Humans | Risk Factors | Alleles | Genotype | Multiple Sclerosis - genetics | Polymorphism, Single Nucleotide | Index Medicus | Abridged Index Medicus
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9. Full Text Low JAK2V617F allele burden in primary myelofibrosis, compared to either a higher allele burden or unmutated status, is associated with inferior overall and leukemia-free survival
by Tefferi, A and Lasho, T.L and Huang, J and Finke, C and Mesa, R.A and Li, C.Y and Wu, W and Hanson, C.A and Pardanani, A
Leukemia, ISSN 0887-6924, 2008, Volume 22, Issue 4, pp. 756 - 761
Oncology | Life Sciences & Biomedicine | Hematology | Science & Technology | Hematologic and hematopoietic diseases | Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis | Biological and medical sciences | Medical sciences | Primary Myelofibrosis - mortality | Age Factors | Gene Frequency | Humans | Middle Aged | Janus Kinase 2 - genetics | Male | Survival Rate | Mutation, Missense | Bone Marrow Examination | Disease-Free Survival | Primary Myelofibrosis - genetics | Platelet Count | Primary Myelofibrosis - epidemiology | Alleles | Aged, 80 and over | Adult | Female | Aged | Polymerase chain reaction | Care and treatment | Usage | Myelofibrosis | Gene mutations | Genetic aspects | Research | Health aspects | Index Medicus
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10. Full Text Apolipoprotein E4 is associated with improved cognitive function in Amazonian forager‐horticulturalists with a high parasite burden
by Trumble, Benjamin C and Stieglitz, Jonathan and Blackwell, Aaron D and Allayee, Hooman and Beheim, Bret and Finch, Caleb E and Gurven, Michael and Kaplan, Hillard
The FASEB journal, ISSN 0892-6638, 04/2017, Volume 31, Issue 4, pp. 1508 - 1515
antagonistic pleiotropy | cognitive decline | Alzheimer's disease | Tsimane | mismatch | Cognitive decline | Mismatch | Antagonistic pleiotropy | Biochemistry & Molecular Biology | Biology | Life Sciences & Biomedicine - Other Topics | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Humans | Middle Aged | Male | Cognition Disorders - genetics | Indians, South American - genetics | Apolipoproteins E - genetics | Adolescent | Alleles | Aged, 80 and over | Brazil | Adult | Female | Heterozygote | Aged | Parasitic Diseases - genetics | Child | Cognition Disorders - epidemiology | Parasitic Diseases - epidemiology | Pathogens | Apolipoprotein E4 | Populations | Neurodegenerative diseases | Cognitive ability | Health risks | Parasites | Apolipoproteins | Morbidity | Risk factors | Environmental conditions | Forages | Carriers | Equatorial regions | Parasitic diseases | Tropical environment | Tropical environments | Aging | Cardiovascular diseases | Cognitive tasks | Hygiene | Index Medicus | Research | Alzheimer’s disease
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11. Full Text Pathogen burden, co-infection and major histocompatibility complex variability in the European badger (Meles meles)
by Sin, Yung Wa and Annavi, Geetha and Dugdale, Hannah L and Newman, Chris and Burke, Terry and MacDonald, David W
Molecular ecology, ISSN 0962-1083, 10/2014, Volume 23, Issue 20, pp. 5072 - 5088
IMMUNE-RESPONSE | PARASITE-MEDIATED SELECTION | EURASIAN BADGER | MULTIMODEL INFERENCE | frequency-dependent selection | HIGH-DENSITY POPULATION | HETEROZYGOTE ADVANTAGE | rare-allele advantage | BEHAVIORAL ECOLOGY | MHC DIVERSITY | pathogen-mediated selection | INFECTIOUS-DISEASES | evolutionary arms race | heterozygote advantage hypothesis | host-parasite co-evolution | host–parasite co‐evolution | frequency‐dependent selection | rare‐allele advantage | pathogen‐mediated selection | Biochemistry & Molecular Biology | Environmental Sciences & Ecology | Ecology | Life Sciences & Biomedicine | Evolutionary Biology | Science & Technology | Haplotypes | Mustelidae - genetics | Mustelidae - parasitology | Major Histocompatibility Complex - genetics | Selection, Genetic | Linear Models | Mustelidae - virology | Sequence Analysis, DNA | Genetic Variation | Animals | Coinfection - genetics | Alleles | Heterozygote | Mustelidae - microbiology | Microsatellite Repeats | Health aspects | Analysis | Major histocompatibility complex | Pathogens | Infections | Mammals | Index Medicus
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