解剖学和形态学
麻醉学
听力与言语-语言病理学
行为科学
心脏和心血管系统
细胞和组织工程学
临床神经病学
危重症监护医学
牙科,口腔外科和医学
皮肤病学
急诊医学
内分泌学和新陈代谢
肠胃学和肝脏学
老人病学和老年医学
卫生保健科学和服务
血液学
免疫学
传染病
综合和补充性医学
医学伦理学
医学信息学
医学实验室技术
医学,全科和内科
医学,法律
医学,研究和试验
神经系统科学
护理
营养学和饮食学
产科医学和妇科医学
肿瘤学
眼科学
整形外科学
耳鼻喉科学
病理学
儿科学
周围血管疾病
药理学和药剂学
生理学
基本医疗保健
精神病学
公共、环境和职业卫生
放射学,核医学和医学成像
康复学
生殖生物学
呼吸系统
风湿病学
运动科学
外科学
毒理学
热带医学
泌尿学和肾脏学
病毒学
老年医学
健康政策和服务
心理学,临床
abstract::After imputation of data from the 1000 Genomes Project into a genome-wide dataset of Ghanaian individuals with tuberculosis and controls, we identified a resistance locus on chromosome 11p13 downstream of the WT1 gene (encoding Wilms tumor 1). The strongest signal was obtained at the rs2057178 SNP (P = 2.63 × 10(-9))....
journal_title:Nature genetics
pub_type: 杂志文章,meta分析
doi:10.1038/ng.1080
更新日期:2012-02-05 00:00:00
abstract::To search for sequence variants conferring risk of nonmedullary thyroid cancer, we focused our analysis on 22 SNPs with a P < 5 × 10(-8) in a genome-wide association study on levels of thyroid stimulating hormone (TSH) in 27,758 Icelanders. Of those, rs965513 has previously been shown to associate with thyroid cancer....
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.1046
更新日期:2012-01-22 00:00:00
abstract::We sequenced eight melanoma exomes to identify new somatic mutations in metastatic melanoma. Focusing on the mitogen-activated protein (MAP) kinase kinase kinase (MAP3K) family, we found that 24% of melanoma cell lines have mutations in the protein-coding regions of either MAP3K5 or MAP3K9. Structural modeling predict...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.1041
更新日期:2011-12-25 00:00:00
abstract::Pancreatic cancer has the lowest survival rate among human cancers, and there are no effective markers for its screening and early diagnosis. To identify genetic susceptibility markers for this cancer, we carried out a genome-wide association study on 981 individuals with pancreatic cancer (cases) and 1,991 cancer-fre...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.1020
更新日期:2011-12-11 00:00:00
abstract::A high-density haplotype map recently enabled a genome-wide association study (GWAS) in a population of indica subspecies of Chinese rice landraces. Here we extend this methodology to a larger and more diverse sample of 950 worldwide rice varieties, including the Oryza sativa indica and Oryza sativa japonica subspecie...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.1018
更新日期:2011-12-04 00:00:00
abstract::Systemic lupus erythematosus (SLE) is a complex autoimmune disease that causes substantial morbidity. As is typical for many other multifactorial disorders, much of the heritability of SLE remains unknown. We identified a rare autosomal recessive form of SLE, in which autozygome analysis revealed a null mutation in th...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.975
更新日期:2011-10-23 00:00:00
abstract::Pulmonary function measures reflect respiratory health and are used in the diagnosis of chronic obstructive pulmonary disease. We tested genome-wide association with forced expiratory volume in 1 second and the ratio of forced expiratory volume in 1 second to forced vital capacity in 48,201 individuals of European anc...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.941
更新日期:2011-09-25 00:00:00
abstract::Numerous genetic loci have been associated with systolic blood pressure (SBP) and diastolic blood pressure (DBP) in Europeans. We now report genome-wide association studies of pulse pressure (PP) and mean arterial pressure (MAP). In discovery (N = 74,064) and follow-up studies (N = 48,607), we identified at genome-wid...
journal_title:Nature genetics
pub_type: 杂志文章,meta分析
doi:10.1038/ng.922
更新日期:2011-09-11 00:00:00
abstract::MicroRNAs (miRNAs) are key regulators of gene expression in animals and plants. Studies in a variety of model organisms show that miRNAs modulate developmental processes. To our knowledge, the only hereditary condition known to be caused by a miRNA is a form of adult-onset non-syndromic deafness, and no miRNA mutation...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.915
更新日期:2011-09-04 00:00:00
abstract::Because only a small fraction of asbestos-exposed individuals develop malignant mesothelioma, and because mesothelioma clustering is observed in some families, we searched for genetic predisposing factors. We discovered germline mutations in the gene encoding BRCA1 associated protein-1 (BAP1) in two families with a hi...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.912
更新日期:2011-08-28 00:00:00
abstract::Graves' disease is a common autoimmune disorder characterized by thyroid stimulating hormone receptor autoantibodies (TRAb) and hyperthyroidism. To investigate the genetic architecture of Graves' disease, we conducted a genome-wide association study in 1,536 individuals with Graves' disease (cases) and 1,516 controls....
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.898
更新日期:2011-08-14 00:00:00
abstract::Diffuse large B-cell lymphoma (DLBCL) is the most common form of human lymphoma. Although a number of structural alterations have been associated with the pathogenesis of this malignancy, the full spectrum of genetic lesions that are present in the DLBCL genome, and therefore the identity of dysregulated cellular path...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.892
更新日期:2011-07-31 00:00:00
abstract::Massively parallel sequencing technologies have identified a broad spectrum of human genome diversity. Here we deep sequenced and correlated 18 genomes and 17 transcriptomes of unrelated Korean individuals. This has allowed us to construct a genome-wide map of common and rare variants and also identify variants formed...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.872
更新日期:2011-07-03 00:00:00
abstract::Elucidating how and to what extent CpG islands (CGIs) are methylated in germ cells is essential to understand genomic imprinting and epigenetic reprogramming. Here we present, to our knowledge, the first integrated epigenomic analysis of mammalian oocytes, identifying over a thousand CGIs methylated in mature oocytes....
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.864
更新日期:2011-06-26 00:00:00
abstract::The importance of individual microRNAs (miRNAs) has been established in specific cancers. However, a comprehensive analysis of the contribution of miRNAs to the pathogenesis of any specific cancer is lacking. Here we show that in T-cell acute lymphoblastic leukemia (T-ALL), a small set of miRNAs is responsible for the...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.858
更新日期:2011-06-05 00:00:00
abstract::Angle-closure glaucoma (ACG) is a subset of glaucoma affecting 16 million people. Although 4 million people are bilaterally blind from ACG, the causative molecular mechanisms of ACG remain to be defined. High intraocular pressure induces glaucoma in ACG. High intraocular pressure traditionally was suggested to result ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.813
更新日期:2011-06-01 00:00:00
abstract::The development of a quantitative understanding of viral evolution and the fitness landscape in HIV-1 drug resistance is a formidable challenge given the large number of available drugs and drug resistance mutations. We analyzed a dataset measuring the in vitro fitness of 70,081 virus samples isolated from HIV-1 subty...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.795
更新日期:2011-05-01 00:00:00
abstract::We sought to identify new susceptibility loci for Alzheimer's disease through a staged association study (GERAD+) and by testing suggestive loci reported by the Alzheimer's Disease Genetic Consortium (ADGC) in a companion paper. We undertook a combined analysis of four genome-wide association datasets (stage 1) and id...
journal_title:Nature genetics
pub_type: 杂志文章,meta分析
doi:10.1038/ng.803
更新日期:2011-05-01 00:00:00
abstract::We report the 207-Mb genome sequence of the North American Arabidopsis lyrata strain MN47 based on 8.3× dideoxy sequence coverage. We predict 32,670 genes in this outcrossing species compared to the 27,025 genes in the selfing species Arabidopsis thaliana. The much smaller 125-Mb genome of A. thaliana, which diverged ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.807
更新日期:2011-05-01 00:00:00
abstract::Endometrial cancer is the most common malignancy of the female genital tract in developed countries. To identify genetic variants associated with endometrial cancer risk, we performed a genome-wide association study involving 1,265 individuals with endometrial cancer (cases) from Australia and the UK and 5,190 control...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.812
更新日期:2011-05-01 00:00:00
abstract::A new study successfully applies complementary whole-genome sequencing and imputation approaches to establish robust disease associations in an isolated population. This strategy is poised to help elucidate the role of variants at the low end of the allele frequency spectrum in the genetic architecture of complex trai...
journal_title:Nature genetics
pub_type: 评论,新闻
doi:10.1038/ng0411-287
更新日期:2011-03-29 00:00:00
abstract::We present here a Sleeping Beauty-based transposition system that offers a simple and efficient way to investigate the regulatory architecture of mammalian chromosomes in vivo. With this system, we generated several hundred mice and embryos, each with a regulatory sensor inserted at a random genomic position. This lar...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.790
更新日期:2011-03-20 00:00:00
abstract::We performed a meta-analysis of 14 genome-wide association studies of coronary artery disease (CAD) comprising 22,233 individuals with CAD (cases) and 64,762 controls of European descent followed by genotyping of top association signals in 56,682 additional individuals. This analysis identified 13 loci newly associate...
journal_title:Nature genetics
pub_type: 杂志文章,meta分析
doi:10.1038/ng.784
更新日期:2011-03-06 00:00:00
abstract::microRNAs (miRNAs) function as genetic rheostats to control gene output. Based on their role as modulators, it has been postulated that miRNAs canalize development and provide genetic robustness. Here, we uncover a previously unidentified regulatory layer of chemokine signaling by miRNAs that confers genetic robustnes...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.758
更新日期:2011-03-01 00:00:00
abstract::Systemic lupus erythematosus (SLE, MIM152700) is an autoimmune disease characterized by self-reactive antibodies resulting in systemic inflammation and organ failure. TNFAIP3, encoding the ubiquitin-modifying enzyme A20, is an established susceptibility locus for SLE. By fine mapping and genomic re-sequencing in ethni...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.766
更新日期:2011-03-01 00:00:00
abstract::Metformin is the most commonly used pharmacological therapy for type 2 diabetes. We report a genome-wide association study for glycemic response to metformin in 1,024 Scottish individuals with type 2 diabetes with replication in two cohorts including 1,783 Scottish individuals and 1,113 individuals from the UK Prospec...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.735
更新日期:2011-02-01 00:00:00
abstract::Endometriosis is a common gynecological disease associated with pelvic pain and subfertility. We conducted a genome-wide association study (GWAS) in 3,194 individuals with surgically confirmed endometriosis (cases) and 7,060 controls from Australia and the UK. Polygenic predictive modeling showed significantly increas...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.731
更新日期:2011-01-01 00:00:00
abstract::Accumulation of genetic incompatibilities within species can lead to reproductive isolation and, potentially, speciation. In this study, we show that allelic variation at SRF3 (Strubbelig Receptor Family 3), encoding a receptor-like kinase, conditions the occurrence of incompatibility between Arabidopsis thaliana acce...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.704
更新日期:2010-12-01 00:00:00
abstract::The conversion of lineage-committed cells to induced pluripotent stem cells (iPSCs) by reprogramming is accompanied by a global remodeling of the epigenome, resulting in altered patterns of gene expression. Here we characterize the transcriptional reorganization of large intergenic non-coding RNAs (lincRNAs) that occu...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.710
更新日期:2010-12-01 00:00:00
abstract::Genome-wide association studies (GWAS) have identified ten loci harboring common variants that influence risk of developing colorectal cancer (CRC). To enhance the power to identify additional CRC risk loci, we conducted a meta-analysis of three GWAS from the UK which included a total of 3,334 affected individuals (ca...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.670
更新日期:2010-11-01 00:00:00
abstract::To identify new susceptibility loci for psoriasis, we undertook a genome-wide association study of 594,224 SNPs in 2,622 individuals with psoriasis and 5,667 controls. We identified associations at eight previously unreported genomic loci. Seven loci harbored genes with recognized immune functions (IL28RA, REL, IFIH1,...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.694
更新日期:2010-11-01 00:00:00
abstract::Obesity is globally prevalent and highly heritable, but its underlying genetic factors remain largely elusive. To identify genetic loci for obesity susceptibility, we examined associations between body mass index and ∼ 2.8 million SNPs in up to 123,865 individuals with targeted follow up of 42 SNPs in up to 125,931 ad...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.686
更新日期:2010-11-01 00:00:00
abstract::The ratio of X-linked to autosomal diversity was estimated from an analysis of six human genome sequences and found to deviate from the expected value of 0.75. However, the direction of this deviation depends on whether a particular sequence is close to or far from the nearest gene. This pattern may be explained by st...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.651
更新日期:2010-10-01 00:00:00
abstract::Sudden cardiac death from ventricular fibrillation during acute myocardial infarction is a leading cause of total and cardiovascular mortality. To our knowledge, we here report the first genome-wide association study for this trait, conducted in a set of 972 individuals with a first acute myocardial infarction, 515 of...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.623
更新日期:2010-08-01 00:00:00
abstract::A genome-wide association screen for primary biliary cirrhosis risk alleles was performed in an Italian cohort. The results from the Italian cohort replicated IL12A and IL12RB associations, and a combined meta-analysis using a Canadian dataset identified newly associated loci at SPIB (P = 7.9 x 10(-11), odds ratio (OR...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.627
更新日期:2010-08-01 00:00:00
abstract::In a recent genome-wide association study of generalized vitiligo, we identified ten confirmed susceptibility loci. By testing additional loci that showed suggestive association in the genome-wide study, using two replication cohorts of European descent, we observed replicated association of generalized vitiligo with ...
journal_title:Nature genetics
pub_type: 杂志文章,多中心研究
doi:10.1038/ng.602
更新日期:2010-07-01 00:00:00
abstract::A new study has identified rare de novo mutations in SHANK2 in individuals with autism and/or mental retardation. SHANK2 encodes a scaffolding protein present in excitatory synapses. This finding sheds some light on the pathophysiology of social and cognitive disability. ...
journal_title:Nature genetics
pub_type: 评论,新闻
doi:10.1038/ng0610-478
更新日期:2010-06-01 00:00:00
abstract::We have genetically retrieved, resurrected and performed detailed structure-function analyses on authentic woolly mammoth hemoglobin to reveal for the first time both the evolutionary origins and the structural underpinnings of a key adaptive physiochemical trait in an extinct species. Hemoglobin binds and carries O(2...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.574
更新日期:2010-06-01 00:00:00
abstract::A genome-wide association scan of approximately 6.6 million genotyped or imputed variants in 882 Sardinian individuals with multiple sclerosis (cases) and 872 controls suggested association of CBLB gene variants with disease, which was confirmed in 1,775 cases and 2,005 controls (rs9657904, overall P = 1.60 x 10(-10),...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.584
更新日期:2010-06-01 00:00:00
abstract::Using microarrays, we identified de novo copy number variations in the SHANK2 synaptic scaffolding gene in two unrelated individuals with autism-spectrum disorder (ASD) and mental retardation. DNA sequencing of SHANK2 in 396 individuals with ASD, 184 individuals with mental retardation and 659 unaffected individuals (...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.589
更新日期:2010-06-01 00:00:00