Abstract:
:An amendment to this paper has been published and can be accessed via a link at the top of the paper.
journal_name
Nat Genetjournal_title
Nature geneticsauthors
Chan-Seng-Yue M,Kim JC,Wilson GW,Ng K,Figueroa EF,O'Kane GM,Connor AA,Denroche RE,Grant RC,McLeod J,Wilson JM,Jang GH,Zhang A,Liang SB,Borgida A,Chadwick D,Kalimuthu S,Lungu I,Bartlett JMS,Krzyzanowski PM,Sandhu Vdoi
10.1038/s41588-020-0588-3subject
Has Abstractpub_date
2020-04-01 00:00:00pages
463issue
4eissn
1061-4036issn
1546-1718pii
10.1038/s41588-020-0588-3journal_volume
52pub_type
已发布勘误相关文献
NATURE GENETICS文献大全abstract::Upon detection of pathogen-associated molecular patterns, innate immune receptors initiate inflammatory responses. These receptors include cytoplasmic NOD-like receptors (NLRs) whose stimulation recruits and proteolytically activates caspase-1 within the inflammasome, a multiprotein complex. Caspase-1 mediates the pro...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3066
更新日期:2014-10-01 00:00:00
abstract::The central goal of human genetics is to understand the inherited basis of human variation in phenotypes, elucidating human physiology, evolution and disease. Rare mutations have been found underlying two thousand mendelian diseases; more recently, it has become possible to assess systematically the contribution of co...
journal_title:Nature genetics
pub_type: 杂志文章,评审
doi:10.1038/ng2080
更新日期:2007-07-01 00:00:00
abstract::Identifying the genes involved in polygenic traits has been difficult. In the 1950s and 1960s, laboratory selection experiments for extreme geotaxic behavior in fruit flies established for the first time that a complex behavioral trait has a genetic basis. But the specific genes responsible for the behavior have never...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng893
更新日期:2002-08-01 00:00:00
abstract::R-spondins are a recently characterized small family of growth factors. Here we show that human R-spondin1 (RSPO1) is the gene disrupted in a recessive syndrome characterized by XX sex reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin. Our data show, for the first time, th...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1907
更新日期:2006-11-01 00:00:00
abstract::The epicardial epithelial-mesenchymal transition (EMT) is hypothesized to generate cardiovascular progenitor cells that differentiate into various cell types, including coronary smooth muscle and endothelial cells, perivascular and cardiac interstitial fibroblasts and cardiomyocytes. Here we show that an epicardial-sp...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.494
更新日期:2010-01-01 00:00:00
abstract::Recovery from blood loss requires a greatly enhanced supply of iron to support expanded erythropoiesis. After hemorrhage, suppression of the iron-regulatory hormone hepcidin allows increased iron absorption and mobilization from stores. We identified a new hormone, erythroferrone (ERFE), that mediates hepcidin suppres...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.2996
更新日期:2014-07-01 00:00:00
abstract::The mutator hypothesis of tumorigenesis suggests that loss of chromosomal stability or maintenance functions results in elevated mutation rates, leading to the accumulation of the numerous mutations required for multistep carcinogenesis. The human DNA mismatch repair (MMR) genes are highly conserved homologues of the ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0997-114
更新日期:1997-09-01 00:00:00
abstract::The Wellcome Trust Case Control Consortium (WTCCC) primary genome-wide association (GWA) scan on seven diseases, including the multifactorial autoimmune disease type 1 diabetes (T1D), shows associations at P < 5 x 10(-7) between T1D and six chromosome regions: 12q24, 12q13, 16p13, 18p11, 12p13 and 4q27. Here, we attem...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng2068
更新日期:2007-07-01 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::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::The morphogenesis of the brain and the differentiation of the neural structures are highly complex processes. A series of temporally and spatially regulated morphogenetic events gives rise to smaller areas that are phylogenetically, functionally and often morphogenetically different. Candidate genes for positional inf...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1096-218
更新日期:1996-10-01 00:00:00
abstract::We conducted a meta-analysis of genome-wide association data to detect genes influencing age at menarche in 17,510 women. The strongest signal was at 9q31.2 (P = 1.7 × 10(-9)), where the nearest genes include TMEM38B, FKTN, FSD1L, TAL2 and ZNF462. The next best signal was near the LIN28B gene (rs7759938; P = 7.0 × 10(...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.386
更新日期:2009-06-01 00:00:00
abstract::We report that a single-nucleotide polymorphism (SNP) in the gene (PTPN22) encoding the lymphoid protein tyrosine phosphatase (LYP), a suppressor of T-cell activation, is associated with type 1 diabetes mellitus (T1D). The variants encoded by the two alleles, 1858C and 1858T, differ in a crucial amino acid residue inv...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1323
更新日期:2004-04-01 00:00:00
abstract::MASA syndrome is a recessive X-linked disorder characterized by mental retardation, adducted thumbs, shuffling gait, aphasia and, in some cases, hydrocephalus. Since it has been shown that X-linked hydrocephalus can be caused by mutations in L1CAM, a neuronal cell adhesion molecule, we performed an L1CAM mutation anal...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0794-408
更新日期:1994-07-01 00:00:00
abstract::Pheromones elicit specific behavioural responses and physiological alterations in recipients of the same species. In mammals, these chemical signals are recognized within the nasal cavity by sensory neurons that express pheromone receptors. In rodents, these receptors are thought to be represented by two large multige...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/79124
更新日期:2000-09-01 00:00:00
abstract::Sialidase (neuraminidase, EC 3.2.1.18) catalyses the hydrolysis of terminal sialic acid residues of glyconjugates. Sialidase has been well studied in viruses and bacteria where it destroys the sialic acid-containing receptors at the surface of host cells, and mobilizes bacterial nutrients. In mammals, three types of s...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0397-316
更新日期:1997-03-01 00:00:00
abstract::Partial exclusion mapping of the nonobese (NOD) diabetic mouse genome has shown linkage of diabetes to at least five different chromosomes. We have now excluded almost all of the genome for the presence of susceptibility genes with fully recessive effects and have obtained evidence of linkage of ten distinct loci to d...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0893-404
更新日期:1993-08-01 00:00:00
abstract::We introduce an approach to identify disease-relevant tissues and cell types by analyzing gene expression data together with genome-wide association study (GWAS) summary statistics. Our approach uses stratified linkage disequilibrium (LD) score regression to test whether disease heritability is enriched in regions sur...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-018-0081-4
更新日期:2018-04-01 00:00:00
abstract::To further understanding of the genetic basis of type 2 diabetes (T2D) susceptibility, we aggregated published meta-analyses of genome-wide association studies (GWAS), including 26,488 cases and 83,964 controls of European, east Asian, south Asian and Mexican and Mexican American ancestry. We observed a significant ex...
journal_title:Nature genetics
pub_type: 杂志文章,meta分析
doi:10.1038/ng.2897
更新日期:2014-03-01 00:00:00
abstract::The basic helix-loop-helix (bHLH) transcription factors, Hand1 and Hand2 (refs 1,2), also called eHand/Hxt/Thing1 and dHand/Hed/Thing2 (refs 3,4), respectively, are expressed in the heart and certain neural-crest derivatives during embryogenesis. In addition, Hand1 is expressed in extraembryonic membranes, whereas Han...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0398-266
更新日期:1998-03-01 00:00:00
abstract::ATM is a member of the phosphatidylinositol 3-kinase (PIK)-like kinases, some of which are active in regulating DNA damage-induced mitotic cell-cycle checkpoints. ATM also plays a role in meiosis. Spermatogenesis in Atm-/- male mice is disrupted, with chromosome fragmentation leading to meiotic arrest; in human patien...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1297-457
更新日期:1997-12-01 00:00:00
abstract::In the version of this article originally published, one of the two authors with the name Wei Zhao was omitted from the author list and the affiliations for both authors were assigned to the single Wei Zhao in the author list. In addition, the ORCID for Wei Zhao (Department of Biostatistics and Epidemiology, Perelman ...
journal_title:Nature genetics
pub_type: 杂志文章,已发布勘误
doi:10.1038/s41588-018-0082-3
更新日期:2018-05-01 00:00:00
abstract::We conducted genome-wide association studies of non-Hodgkin lymphoma using Illumina HumanHap550 BeadChips to identify subtype-specific associations in follicular, diffuse large B-cell and chronic lymphocytic leukemia/small lymphocytic lymphomas. We found that rs6457327 on 6p21.33 was associated with susceptibility to ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.419
更新日期:2009-08-01 00:00:00
abstract::Refsum disease is an autosomal-recessively inherited disorder characterized clinically by a tetrad of abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells in the CSF. All patients exhibit ac...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1097-190
更新日期:1997-10-01 00:00:00
abstract::Genome-wide association studies have identified several risk associations for ovarian carcinomas but not for mucinous ovarian carcinomas (MOCs). Our analysis of 1,644 MOC cases and 21,693 controls with imputation identified 3 new risk associations: rs752590 at 2q13 (P = 3.3 × 10(-8)), rs711830 at 2q31.1 (P = 7.5 × 10(...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3336
更新日期:2015-08-01 00:00:00
abstract::Through whole-genome sequencing of 2,630 Icelanders and imputation into 11,114 Icelandic cases and 267,140 controls followed by testing in Danish and Iranian samples, we discovered 4 previously unreported variants affecting risk of type 2 diabetes (T2D). A low-frequency (1.47%) variant in intron 1 of CCND2, rs76895963...
journal_title:Nature genetics
pub_type: 信件
doi:10.1038/ng.2882
更新日期:2014-03-01 00:00:00
abstract::High hyperdiploid (51-67 chromosomes) acute lymphoblastic leukemia (ALL) is one of the most common childhood malignancies, comprising 30% of all pediatric B cell-precursor ALL. Its characteristic genetic feature is the nonrandom gain of chromosomes X, 4, 6, 10, 14, 17, 18 and 21, with individual trisomies or tetrasomi...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3301
更新日期:2015-06-01 00:00:00
abstract::Distal enhancers play pivotal roles in development and disease yet remain one of the least understood regulatory elements. We used massively parallel reporter assays to perform functional comparisons of two leading enhancer models and find that gene-distal transcription start sites are robust predictors of active enha...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-020-0686-2
更新日期:2020-10-01 00:00:00
abstract::Reduced lung function predicts mortality and is key to the diagnosis of chronic obstructive pulmonary disease (COPD). In a genome-wide association study in 400,102 individuals of European ancestry, we define 279 lung function signals, 139 of which are new. In combination, these variants strongly predict COPD in indepe...
journal_title:Nature genetics
pub_type: 杂志文章,meta分析
doi:10.1038/s41588-018-0321-7
更新日期:2019-03-01 00:00:00
abstract::A single microarray can provide information on the expression of tens of thousands of genes. The amount of information generated by a microarray-based experiment is sufficiently large that no single study can be expected to mine each nugget of scientific information. As a consequence, the scale and complexity of micro...
journal_title:Nature genetics
pub_type: 杂志文章,评审
doi:10.1038/ng1028
更新日期:2002-12-01 00:00:00