Author Correction: Transcription phenotypes of pancreatic cancer are driven by genomic events during tumor evolution.


:An amendment to this paper has been published and can be accessed via a link at the top of the paper.


Nat Genet


Nature genetics


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 V




Has Abstract


2020-04-01 00:00:00














  • Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation.

    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


    authors: Romberg N,Al Moussawi K,Nelson-Williams C,Stiegler AL,Loring E,Choi M,Overton J,Meffre E,Khokha MK,Huttner AJ,West B,Podoltsev NA,Boggon TJ,Kazmierczak BI,Lifton RP

    更新日期:2014-10-01 00:00:00

  • Copy-number variation and association studies of human disease.

    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


    authors: McCarroll SA,Altshuler DM

    更新日期:2007-07-01 00:00:00

  • Identification of genes involved in Drosophila melanogaster geotaxis, a complex behavioral trait.

    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


    authors: Toma DP,White KP,Hirsch J,Greenspan RJ

    更新日期:2002-08-01 00:00:00

  • R-spondin1 is essential in sex determination, skin differentiation and malignancy.

    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


    authors: Parma P,Radi O,Vidal V,Chaboissier MC,Dellambra E,Valentini S,Guerra L,Schedl A,Camerino G

    更新日期:2006-11-01 00:00:00

  • Wt1 is required for cardiovascular progenitor cell formation through transcriptional control of Snail and E-cadherin.

    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


    authors: Martínez-Estrada OM,Lettice LA,Essafi A,Guadix JA,Slight J,Velecela V,Hall E,Reichmann J,Devenney PS,Hohenstein P,Hosen N,Hill RE,Muñoz-Chapuli R,Hastie ND

    更新日期:2010-01-01 00:00:00

  • Identification of erythroferrone as an erythroid regulator of iron metabolism.

    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


    authors: Kautz L,Jung G,Valore EV,Rivella S,Nemeth E,Ganz T

    更新日期:2014-07-01 00:00:00

  • Female embryonic lethality in mice nullizygous for both Msh2 and p53.

    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


    authors: Cranston A,Bocker T,Reitmair A,Palazzo J,Wilson T,Mak T,Fishel R

    更新日期:1997-09-01 00:00:00

  • Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.

    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


    authors: Todd JA,Walker NM,Cooper JD,Smyth DJ,Downes K,Plagnol V,Bailey R,Nejentsev S,Field SF,Payne F,Lowe CE,Szeszko JS,Hafler JP,Zeitels L,Yang JH,Vella A,Nutland S,Stevens HE,Schuilenburg H,Coleman G,Maisuria M,Meado

    更新日期:2007-07-01 00:00:00

  • Natural variation at Strubbelig Receptor Kinase 3 drives immune-triggered incompatibilities between Arabidopsis thaliana accessions.

    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


    authors: Alcázar R,García AV,Kronholm I,de Meaux J,Koornneef M,Parker JE,Reymond M

    更新日期:2010-12-01 00:00:00

  • Extensive genomic and transcriptional diversity identified through massively parallel DNA and RNA sequencing of eighteen Korean individuals.

    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


    authors: Ju YS,Kim JI,Kim S,Hong D,Park H,Shin JY,Lee S,Lee WC,Kim S,Yu SB,Park SS,Seo SH,Yun JY,Kim HJ,Lee DS,Yavartanoo M,Kang HP,Gokcumen O,Govindaraju DR,Jung JH,Chong H,Yang KS,Kim H,Lee C,Seo JS

    更新日期:2011-07-03 00:00:00

  • Epilepsy and brain abnormalities in mice lacking the Otx1 gene.

    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


    authors: Acampora D,Mazan S,Avantaggiato V,Barone P,Tuorto F,Lallemand Y,Brûlet P,Simeone A

    更新日期:1996-10-01 00:00:00

  • Meta-analysis of genome-wide association data identifies two loci influencing age at menarche.

    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


    authors: Perry JR,Stolk L,Franceschini N,Lunetta KL,Zhai G,McArdle PF,Smith AV,Aspelund T,Bandinelli S,Boerwinkle E,Cherkas L,Eiriksdottir G,Estrada K,Ferrucci L,Folsom AR,Garcia M,Gudnason V,Hofman A,Karasik D,Kiel DP,Lau

    更新日期:2009-06-01 00:00:00

  • A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes.

    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


    authors: Bottini N,Musumeci L,Alonso A,Rahmouni S,Nika K,Rostamkhani M,MacMurray J,Meloni GF,Lucarelli P,Pellecchia M,Eisenbarth GS,Comings D,Mustelin T

    更新日期:2004-04-01 00:00:00

  • MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.

    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


    authors: Vits L,Van Camp G,Coucke P,Fransen E,De Boulle K,Reyniers E,Korn B,Poustka A,Wilson G,Schrander-Stumpel C

    更新日期:1994-07-01 00:00:00

  • A putative pheromone receptor gene expressed in human olfactory mucosa.

    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


    authors: Rodriguez I,Greer CA,Mok MY,Mombaerts P

    更新日期:2000-09-01 00:00:00

  • Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis.

    abstract::Sialidase (neuraminidase, EC 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


    authors: Pshezhetsky AV,Richard C,Michaud L,Igdoura S,Wang S,Elsliger MA,Qu J,Leclerc D,Gravel R,Dallaire L,Potier M

    更新日期:1997-03-01 00:00:00

  • Polygenic control of autoimmune diabetes in nonobese diabetic mice.

    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


    authors: Ghosh S,Palmer SM,Rodrigues NR,Cordell HJ,Hearne CM,Cornall RJ,Prins JB,McShane P,Lathrop GM,Peterson LB

    更新日期:1993-08-01 00:00:00

  • Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types.

    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


    authors: Finucane HK,Reshef YA,Anttila V,Slowikowski K,Gusev A,Byrnes A,Gazal S,Loh PR,Lareau C,Shoresh N,Genovese G,Saunders A,Macosko E,Pollack S,Brainstorm Consortium.,Perry JRB,Buenrostro JD,Bernstein BE,Raychaudhuri S,M

    更新日期:2018-04-01 00:00:00

  • Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.

    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


    authors: DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium.,Asian Genetic Epidemiology Network Type 2 Diabetes (AGEN-T2D) Consortium.,South Asian Type 2 Diabetes (SAT2D) Consortium.,Mexican American Type 2 Diabetes (MAT2D) Consortium.,

    更新日期:2014-03-01 00:00:00

  • Heart and extra-embryonic mesodermal defects in mouse embryos lacking the bHLH transcription factor Hand1.

    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


    authors: Firulli AB,McFadden DG,Lin Q,Srivastava D,Olson EN

    更新日期:1998-03-01 00:00:00

  • ATM and RPA in meiotic chromosome synapsis and recombination.

    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


    authors: Plug AW,Peters AH,Xu Y,Keegan KS,Hoekstra MF,Baltimore D,de Boer P,Ashley T

    更新日期:1997-12-01 00:00:00

  • Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

    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


    authors: Turcot V,Lu Y,Highland HM,Schurmann C,Justice AE,Fine RS,Bradfield JP,Esko T,Giri A,Graff M,Guo X,Hendricks AE,Karaderi T,Lempradl A,Locke AE,Mahajan A,Marouli E,Sivapalaratnam S,Young KL,Alfred T,Feitosa MF,Mas

    更新日期:2018-05-01 00:00:00

  • Genetic variants at 6p21.33 are associated with susceptibility to follicular lymphoma.

    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


    authors: Skibola CF,Bracci PM,Halperin E,Conde L,Craig DW,Agana L,Iyadurai K,Becker N,Brooks-Wilson A,Curry JD,Spinelli JJ,Holly EA,Riby J,Zhang L,Nieters A,Smith MT,Brown KM

    更新日期:2009-08-01 00:00:00

  • Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.

    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


    authors: Jansen GA,Ofman R,Ferdinandusse S,Ijlst L,Muijsers AO,Skjeldal OH,Stokke O,Jakobs C,Besley GT,Wraith JE,Wanders RJ

    更新日期:1997-10-01 00:00:00

  • Genome-wide significant risk associations for mucinous ovarian carcinoma.

    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


    authors: Kelemen LE,Lawrenson K,Tyrer J,Li Q,Lee JM,Seo JH,Phelan CM,Beesley J,Chen X,Spindler TJ,Aben KK,Anton-Culver H,Antonenkova N,Australian Cancer Study.,Australian Ovarian Cancer Study Group.,Ovarian Cancer Association Consor

    更新日期:2015-08-01 00:00:00

  • Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes.

    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


    authors: Steinthorsdottir V,Thorleifsson G,Sulem P,Helgason H,Grarup N,Sigurdsson A,Helgadottir HT,Johannsdottir H,Magnusson OT,Gudjonsson SA,Justesen JM,Harder MN,Jørgensen ME,Christensen C,Brandslund I,Sandbæk A,Lauritzen T,Ve

    更新日期:2014-03-01 00:00:00

  • The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia.

    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


    authors: Paulsson K,Lilljebjörn H,Biloglav A,Olsson L,Rissler M,Castor A,Barbany G,Fogelstrand L,Nordgren A,Sjögren H,Fioretos T,Johansson B

    更新日期:2015-06-01 00:00:00

  • Transcription imparts architecture, function and logic to enhancer units.

    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


    authors: Tippens ND,Liang J,Leung AK,Wierbowski SD,Ozer A,Booth JG,Lis JT,Yu H

    更新日期:2020-10-01 00:00:00

  • New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

    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


    authors: Shrine N,Guyatt AL,Erzurumluoglu AM,Jackson VE,Hobbs BD,Melbourne CA,Batini C,Fawcett KA,Song K,Sakornsakolpat P,Li X,Boxall R,Reeve NF,Obeidat M,Zhao JH,Wielscher M,Weiss S,Kentistou KA,Cook JP,Sun BB,Zhou J,Hu

    更新日期:2019-03-01 00:00:00

  • Microarray databases: standards and ontologies.

    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


    authors: Stoeckert CJ Jr,Causton HC,Ball CA

    更新日期:2002-12-01 00:00:00