标题
Protective alleles and modifier variants in human health and disease
作者
关键词
-
出版物
NATURE REVIEWS GENETICS
Volume 16, Issue 12, Pages 689-701
出版商
Springer Nature
发表日期
2015-10-27
DOI
10.1038/nrg4017
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Effects of Proprotein Convertase Subtilisin/Kexin Type 9 Antibodies in Adults With Hypercholesterolemia
- (2015) Eliano Pio Navarese et al. ANNALS OF INTERNAL MEDICINE
- Secukinumab in psoriasis: randomized, controlled phase 3 trial results assessing the potential to improve treatment response in partial responders (STATURE)
- (2015) D. Thaçi et al. BRITISH JOURNAL OF DERMATOLOGY
- Chromothriptic Cure of WHIM Syndrome
- (2015) David H. McDermott et al. CELL
- A Century of Cholesterol and Coronaries: From Plaques to Genes to Statins
- (2015) Joseph L. Goldstein et al. CELL
- A Randomized, Double-Blind Phase 2 Clinical Trial of Blosozumab, a Sclerostin Antibody, in Postmenopausal Women with Low Bone Mineral Density
- (2015) Robert R. Recker et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Comparison of ixekizumab with etanercept or placebo in moderate-to-severe psoriasis (UNCOVER-2 and UNCOVER-3): results from two phase 3 randomised trials
- (2015) Christopher E M Griffiths et al. LANCET
- Antisense therapy targeting apolipoprotein(a): a randomised, double-blind, placebo-controlled phase 1 study
- (2015) Sotirios Tsimikas et al. LANCET
- Secukinumab, a human anti-interleukin-17A monoclonal antibody, in patients with psoriatic arthritis (FUTURE 2): a randomised, double-blind, placebo-controlled, phase 3 trial
- (2015) Iain B McInnes et al. LANCET
- Genetic compensation induced by deleterious mutations but not gene knockdowns
- (2015) Andrea Rossi et al. NATURE
- Identification of a large set of rare complete human knockouts
- (2015) Patrick Sulem et al. NATURE GENETICS
- The support of human genetic evidence for approved drug indications
- (2015) Matthew R Nelson et al. NATURE GENETICS
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- (2015) Loukas Moutsianas et al. NATURE GENETICS
- A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease
- (2015) Kristina Bečanović et al. NATURE NEUROSCIENCE
- What does it take to produce a breakthrough drug?
- (2015) Dirk Calcoen et al. NATURE REVIEWS DRUG DISCOVERY
- Efficacy and Safety of Alirocumab in Reducing Lipids and Cardiovascular Events
- (2015) Jennifer G. Robinson et al. NEW ENGLAND JOURNAL OF MEDICINE
- The Cost of Drug Development
- (2015) Joseph A. DiMasi et al. NEW ENGLAND JOURNAL OF MEDICINE
- Efficacy and Safety of Evolocumab in Reducing Lipids and Cardiovascular Events
- (2015) Marc S. Sabatine et al. NEW ENGLAND JOURNAL OF MEDICINE
- Ezetimibe Added to Statin Therapy after Acute Coronary Syndromes
- (2015) Christopher P. Cannon et al. NEW ENGLAND JOURNAL OF MEDICINE
- TYK2 Protein-Coding Variants Protect against Rheumatoid Arthritis and Autoimmunity, with No Evidence of Major Pleiotropic Effects on Non-Autoimmune Complex Traits
- (2015) Dorothée Diogo et al. PLoS One
- Genome editing-based HIV therapies
- (2015) Wan-Gang Gu TRENDS IN BIOTECHNOLOGY
- Somatic mosaicism: implications for disease and transmission genetics
- (2015) Ian M. Campbell et al. TRENDS IN GENETICS
- Rarity of the Alzheimer Disease–ProtectiveAPPA673T Variant in the United States
- (2015) Li-San Wang et al. JAMA Neurology
- Genome-wide association study of survival from sepsis due to pneumonia: an observational cohort study
- (2015) Anna Rautanen et al. Lancet Respiratory Medicine
- Individualized Medicine from Prewomb to Tomb
- (2014) Eric J. Topol CELL
- The ACC/AHA 2013 guideline on the treatment of blood cholesterol to reduce atherosclerotic cardiovascular disease risk in adults: the good the bad and the uncertain: a comparison with ESC/EAS guidelines for the management of dyslipidaemias 2011
- (2014) K. K. Ray et al. EUROPEAN HEART JOURNAL
- The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P
- (2014) Christopher Geoffrey Woods et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Phenome-wide association studies (PheWASs) for functional variants
- (2014) Zhan Ye et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Molecular Mechanisms of Alzheimer Disease Protection by the A673T Allele of Amyloid Precursor Protein
- (2014) Janice A. Maloney et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- The Alzheimer Disease Protective Mutation A2T Modulates Kinetic and Thermodynamic Properties of Amyloid-β (Aβ) Aggregation
- (2014) Iryna Benilova et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Medical research: Missing patients
- (2014) Esteban G. Burchard NATURE
- Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction
- (2014) Ron Do et al. NATURE
- Clinical development success rates for investigational drugs
- (2014) Michael Hay et al. NATURE BIOTECHNOLOGY
- Biopharmaceutical benchmarks 2014
- (2014) Gary Walsh NATURE BIOTECHNOLOGY
- Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection
- (2014) Stéphanie Debette et al. NATURE GENETICS
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- (2014) Sarah J Dunstan et al. NATURE GENETICS
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- (2014) Jason Flannick et al. NATURE GENETICS
- Loss-of-Function Mutations in APOC3 and Risk of Ischemic Vascular Disease
- (2014) Anders Berg Jørgensen et al. NEW ENGLAND JOURNAL OF MEDICINE
- Gene Editing of CCR5 in Autologous CD4 T Cells of Persons Infected with HIV
- (2014) Pablo Tebas et al. NEW ENGLAND JOURNAL OF MEDICINE
- Romosozumab in Postmenopausal Women with Low Bone Mineral Density
- (2014) Michael R. McClung et al. NEW ENGLAND JOURNAL OF MEDICINE
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- (2014) NEW ENGLAND JOURNAL OF MEDICINE
- Loss-of-Function Mutations in APOC3, Triglycerides, and Coronary Disease
- (2014) NEW ENGLAND JOURNAL OF MEDICINE
- The Hunt for Missing Genes
- (2014) J. Kaiser SCIENCE
- Clues from the resilient
- (2014) S. H. Friend et al. SCIENCE
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- (2014) Laura Fejerman et al. Nature Communications
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- (2014) Robert Vassar Alzheimers Research & Therapy
- Life Extension Factor Klotho Enhances Cognition
- (2014) Dena B. Dubal et al. Cell Reports
- Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population
- (2014) Elaine T. Lim et al. PLoS Genetics
- Impact of Type 2 Diabetes Susceptibility Variants on Quantitative Glycemic Traits Reveals Mechanistic Heterogeneity
- (2013) Antigone S. Dimas et al. DIABETES
- ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
- (2013) Robert C. Green et al. GENETICS IN MEDICINE
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- (2013) Motoyuki Tamaki et al. JOURNAL OF CLINICAL INVESTIGATION
- Anti-interleukin-17A monoclonal antibody secukinumab in treatment of ankylosing spondylitis: a randomised, double-blind, placebo-controlled trial
- (2013) Dominique Baeten et al. LANCET
- Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease
- (2013) Carlos Cruchaga et al. NATURE
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- (2013) Yohei Kirino et al. NATURE GENETICS
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- (2013) Enrico Leipold et al. NATURE GENETICS
- Common variants associated with plasma triglycerides and risk for coronary artery disease
- (2013) Ron Do et al. NATURE GENETICS
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- (2013) Robert M. Plenge et al. NATURE REVIEWS DRUG DISCOVERY
- Genetic insights into common pathways and complex relationships among immune-mediated diseases
- (2013) Miles Parkes et al. NATURE REVIEWS GENETICS
- Absence of A673T amyloid-β precursor protein variant in Alzheimer's disease and other neurological diseases
- (2013) Simon Kang Seng Ting et al. NEUROBIOLOGY OF AGING
- Absence of A673T variant in APP gene indicates an alternative protective mechanism contributing to longevity in Chinese individuals
- (2013) Yao-Wen Liu et al. NEUROBIOLOGY OF AGING
- Chromothripsis: Chromosomes in Crisis
- (2012) Mathew J.K. Jones et al. DEVELOPMENTAL CELL
- GENCODE: The reference human genome annotation for The ENCODE Project
- (2012) J. Harrow et al. GENOME RESEARCH
- Secukinumab, a human anti-IL-17A monoclonal antibody, for moderate to severe Crohn's disease: unexpected results of a randomised, double-blind placebo-controlled trial
- (2012) Wolfgang Hueber et al. GUT
- A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline
- (2012) Thorlakur Jonsson et al. NATURE
- Amyloid precursor protein (APP) A673T mutation in the elderly Finnish population
- (2012) Mia Kero et al. NEUROBIOLOGY OF AGING
- A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
- (2012) D. G. MacArthur et al. SCIENCE
- Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease
- (2011) Manuel A Rivas et al. NATURE GENETICS
- The IL23R R381Q Gene Variant Protects against Immune-Mediated Diseases by Impairing IL-23-Induced Th17 Effector Response in Humans
- (2011) Paola Di Meglio et al. PLoS One
- Inflammatory disease protective R381Q IL23 receptor polymorphism results in decreased primary CD4+ and CD8+ human T-cell functional responses
- (2011) R. Sarin et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Fine Mapping of Five Loci Associated with Low-Density Lipoprotein Cholesterol Detects Variants That Double the Explained Heritability
- (2011) Serena Sanna et al. PLoS Genetics
- Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations
- (2010) James J. Cox et al. HUMAN MUTATION
- Two doses of sclerostin antibody in cynomolgus monkeys increases bone formation, bone mineral density, and bone strength
- (2010) Michael S Ominsky et al. JOURNAL OF BONE AND MINERAL RESEARCH
- PCSK9R46L, Low-Density Lipoprotein Cholesterol Levels, and Risk of Ischemic Heart Disease
- (2010) Marianne Benn et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease
- (2010) Yukihide Momozawa et al. NATURE GENETICS
- Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci
- (2010) John D Reveille et al. NATURE GENETICS
- Insulin Storage and Glucose Homeostasis in Mice Null for the Granule Zinc Transporter ZnT8 and Studies of the Type 2 Diabetes-Associated Variants
- (2009) T. J. Nicolson et al. DIABETES
- Genetics of human gene expression: mapping DNA variants that influence gene expression
- (2009) Vivian G. Cheung et al. NATURE REVIEWS GENETICS
- Genetic Variants Associated with Lp(a) Lipoprotein Level and Coronary Disease
- (2009) Robert Clarke et al. NEW ENGLAND JOURNAL OF MEDICINE
- Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes
- (2009) S. Nejentsev et al. SCIENCE
- The IL23R Arg381Gln non-synonymous polymorphism confers susceptibility to ankylosing spondylitis
- (2008) B Rueda et al. ANNALS OF THE RHEUMATIC DISEASES
- Genetic Ancestry and Risk of Breast Cancer among U.S. Latinas
- (2008) L. Fejerman et al. CANCER RESEARCH
- Polymorphisms in the TCF7L2, CDKAL1 and SLC30A8 genes are associated with impaired proinsulin conversion
- (2008) K. Kirchhoff et al. DIABETOLOGIA
- Sclerostin Antibody Treatment Increases Bone Formation, Bone Mass, and Bone Strength in a Rat Model of Postmenopausal Osteoporosis*
- (2008) Xiaodong Li et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Maraviroc for Previously Treated Patients with R5 HIV-1 Infection
- (2008) Roy M. Gulick et al. NEW ENGLAND JOURNAL OF MEDICINE
- A Genome-Wide Association Study of Psoriasis and Psoriatic Arthritis Identifies New Disease Loci
- (2008) Ying Liu et al. PLoS Genetics
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