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














  • A specific requirement for PDGF-C in palate formation and PDGFR-alpha signaling.

    abstract::PDGF-C is a member of the platelet-derived growth factor (PDGF) family, which signals through PDGF receptor (PDGFR) alphaalpha and alphabeta dimers. Here we show that Pdgfc(-/-) mice die in the perinatal period owing to feeding and respiratory difficulties associated with a complete cleft of the secondary palate. This...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Ding H,Wu X,Boström H,Kim I,Wong N,Tsoi B,O'Rourke M,Koh GY,Soriano P,Betsholtz C,Hart TC,Marazita ML,Field LL,Tam PP,Nagy A

    更新日期:2004-10-01 00:00:00

  • Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.

    abstract::Genome-wide association studies (GWAS) of longitudinal birth cohorts enable joint investigation of environmental and genetic influences on complex traits. We report GWAS results for nine quantitative metabolic traits (triglycerides, high-density lipoprotein, low-density lipoprotein, glucose, insulin, C-reactive protei...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Sabatti C,Service SK,Hartikainen AL,Pouta A,Ripatti S,Brodsky J,Jones CG,Zaitlen NA,Varilo T,Kaakinen M,Sovio U,Ruokonen A,Laitinen J,Jakkula E,Coin L,Hoggart C,Collins A,Turunen H,Gabriel S,Elliot P,McCarthy MI,

    更新日期:2009-01-01 00:00:00

  • Lineage-dependent gene expression programs influence the immune landscape of colorectal cancer.

    abstract::Immunotherapy for metastatic colorectal cancer is effective only for mismatch repair-deficient tumors with high microsatellite instability that demonstrate immune infiltration, suggesting that tumor cells can determine their immune microenvironment. To understand this cross-talk, we analyzed the transcriptome of 91,10...

    journal_title:Nature genetics

    pub_type: 杂志文章,多中心研究


    authors: Lee HO,Hong Y,Etlioglu HE,Cho YB,Pomella V,Van den Bosch B,Vanhecke J,Verbandt S,Hong H,Min JW,Kim N,Eum HH,Qian J,Boeckx B,Lambrechts D,Tsantoulis P,De Hertogh G,Chung W,Lee T,An M,Shin HT,Joung JG,Jung MH,

    更新日期:2020-06-01 00:00:00

  • Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

    abstract::Cas9 is commonly introduced into cell lines to enable CRISPR-Cas9-mediated genome editing. Here, we studied the genetic and transcriptional consequences of Cas9 expression itself. Gene expression profiling of 165 pairs of human cancer cell lines and their Cas9-expressing derivatives revealed upregulation of the p53 pa...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Enache OM,Rendo V,Abdusamad M,Lam D,Davison D,Pal S,Currimjee N,Hess J,Pantel S,Nag A,Thorner AR,Doench JG,Vazquez F,Beroukhim R,Golub TR,Ben-David U

    更新日期:2020-07-01 00:00:00

  • Three-dimensional chromatin landscapes in T cell acute lymphoblastic leukemia.

    abstract::Differences in three-dimensional (3D) chromatin architecture can influence the integrity of topologically associating domains (TADs) and rewire specific enhancer-promoter interactions, impacting gene expression and leading to human disease. Here we investigate the 3D chromatin architecture in T cell acute lymphoblasti...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Kloetgen A,Thandapani P,Ntziachristos P,Ghebrechristos Y,Nomikou S,Lazaris C,Chen X,Hu H,Bakogianni S,Wang J,Fu Y,Boccalatte F,Zhong H,Paietta E,Trimarchi T,Zhu Y,Van Vlierberghe P,Inghirami GG,Lionnet T,Aifantis I

    更新日期:2020-04-01 00:00:00

  • Unraveling tumor-immune heterogeneity in advanced ovarian cancer uncovers immunogenic effect of chemotherapy.

    abstract::In metastatic cancer, the degree of heterogeneity of the tumor microenvironment (TME) and its molecular underpinnings remain largely unstudied. To characterize the tumor-immune interface at baseline and during neoadjuvant chemotherapy (NACT) in high-grade serous ovarian cancer (HGSOC), we performed immunogenomic analy...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Jiménez-Sánchez A,Cybulska P,Mager KL,Koplev S,Cast O,Couturier DL,Memon D,Selenica P,Nikolovski I,Mazaheri Y,Bykov Y,Geyer FC,Macintyre G,Gavarró LM,Drews RM,Gill MB,Papanastasiou AD,Sosa RE,Soslow RA,Walther T,S

    更新日期:2020-06-01 00:00:00

  • Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa.

    abstract::Junctional epidermolysis bullosa (JEB) is a heterogeneous autosomal recessively inherited blistering skin disorder associated with fragility at the dermal-epidermal junction. Characteristic ultrastructural findings in JEB are abnormalities in the hemidesmosome-anchoring filament complexes. These focal attachment struc...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: McGrath JA,Gatalica B,Christiano AM,Li K,Owaribe K,McMillan JR,Eady RA,Uitto J

    更新日期:1995-09-01 00:00:00

  • Activating SRC mutation in a subset of advanced human colon cancers.

    abstract::The discovery of Rous sarcoma virus (RSV) led to the identification of cellular Src (c-Src), a non-receptor tyrosine kinase, which has since been implicated in the development of numerous human cancers. c-Src has been found to be highly activated in colon cancers, particularly in those metastatic to the liver. Studies...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Irby RB,Mao W,Coppola D,Kang J,Loubeau JM,Trudeau W,Karl R,Fujita DJ,Jove R,Yeatman TJ

    更新日期:1999-02-01 00:00:00

  • Hyperactivation of HUSH complex function by Charcot-Marie-Tooth disease mutation in MORC2.

    abstract::Dominant mutations in the MORC2 gene have recently been shown to cause axonal Charcot-Marie-Tooth (CMT) disease, but the cellular function of MORC2 is poorly understood. Here, through a genome-wide CRISPR-Cas9-mediated forward genetic screen, we identified MORC2 as an essential gene required for epigenetic silencing b...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Tchasovnikarova IA,Timms RT,Douse CH,Roberts RC,Dougan G,Kingston RE,Modis Y,Lehner PJ

    更新日期:2017-07-01 00:00:00

  • Genome-wide mapping of global-to-local genetic effects on human facial shape.

    abstract::Genome-wide association scans of complex multipartite traits like the human face typically use preselected phenotypic measures. Here we report a data-driven approach to phenotyping facial shape at multiple levels of organization, allowing for an open-ended description of facial variation while preserving statistical p...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Claes P,Roosenboom J,White JD,Swigut T,Sero D,Li J,Lee MK,Zaidi A,Mattern BC,Liebowitz C,Pearson L,González T,Leslie EJ,Carlson JC,Orlova E,Suetens P,Vandermeulen D,Feingold E,Marazita ML,Shaffer JR,Wysocka J,Sh

    更新日期:2018-03-01 00:00:00

  • Human telomeres contain two distinct Myb-related proteins, TRF1 and TRF2.

    abstract::Human telomeres are composed of long arrays of TTAGGG repeats that form a nucleoprotein complex required for the protection and replication of chromosome ends. One component of human telomeres is the TTAGGG repeat binding factor 1 (TRF1), a ubiquitously expressed protein, related to the protooncogene Myb, that is pres...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Broccoli D,Smogorzewska A,Chong L,de Lange T

    更新日期:1997-10-01 00:00:00

  • Common variants associated with general and MMR vaccine-related febrile seizures.

    abstract::Febrile seizures represent a serious adverse event following measles, mumps and rubella (MMR) vaccination. We conducted a series of genome-wide association scans comparing children with MMR-related febrile seizures, children with febrile seizures unrelated to vaccination and controls with no history of febrile seizure...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Feenstra B,Pasternak B,Geller F,Carstensen L,Wang T,Huang F,Eitson JL,Hollegaard MV,Svanström H,Vestergaard M,Hougaard DM,Schoggins JW,Jan LY,Melbye M,Hviid A

    更新日期:2014-12-01 00:00:00

  • Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion.

    abstract::Congenital myoclonus is a widespread neurologic disorder characterized by hyperexcitability, muscular spasticity and myoclonus associated with marked reduction in neural glycine binding sites. The recessive mouse mutation spastic (spa) is a prototype of inherited myoclonus. Here we show that defects in the gene encodi...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Kingsmore SF,Giros B,Suh D,Bieniarz M,Caron MG,Seldin MF

    更新日期:1994-06-01 00:00:00

  • Nuclear reprogramming of cloned embryos and its implications for therapeutic cloning.

    abstract::Therapeutic cloning, whereby somatic cell nuclear transfer (SCNT) is used to generate patient-specific embryonic stem cells (ESCs) from blastocysts cloned by nuclear transfer (ntESCs), holds great promise for the treatment of many human diseases. ntESCs have been derived in mice and cattle, but thus far there are no c...

    journal_title:Nature genetics

    pub_type: 杂志文章,评审


    authors: Yang X,Smith SL,Tian XC,Lewin HA,Renard JP,Wakayama T

    更新日期:2007-03-01 00:00:00

  • Polymorphisms in FKBP5 are associated with increased recurrence of depressive episodes and rapid response to antidepressant treatment.

    abstract::The stress hormone-regulating hypothalamic-pituitary-adrenal (HPA) axis has been implicated in the causality as well as the treatment of depression. To investigate a possible association between genes regulating the HPA axis and response to antidepressants and susceptibility for depression, we genotyped single-nucleot...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Binder EB,Salyakina D,Lichtner P,Wochnik GM,Ising M,Pütz B,Papiol S,Seaman S,Lucae S,Kohli MA,Nickel T,Künzel HE,Fuchs B,Majer M,Pfennig A,Kern N,Brunner J,Modell S,Baghai T,Deiml T,Zill P,Bondy B,Rupprecht R

    更新日期:2004-12-01 00:00:00

  • Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.

    abstract::Jackson-Weiss syndrome is an autosomal dominant condition characterized by craniosynostosis, foot anomalies and great phenotypic variability. Recently mutations in fibroblast growth factor receptor 2 (FGFR2) have been found in patients with another craniosynostotic syndrome, Crouzon syndrome. FGFR2 is a member of the ...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Jabs EW,Li X,Scott AF,Meyers G,Chen W,Eccles M,Mao JI,Charnas LR,Jackson CE,Jaye M

    更新日期:1994-11-01 00:00:00

  • A deletion in the bovine myostatin gene causes the double-muscled phenotype in cattle.

    abstract::An exceptional muscle development commonly referred to as 'double-muscled' (Fig. 1) has been seen in several cattle breeds and has attracted considerable attention from beef producers. Double-muscled animals are characterized by an increase in muscle mass of about 20%, due to general skeletal-muscle hyperplasia-that i...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Grobet L,Martin LJ,Poncelet D,Pirottin D,Brouwers B,Riquet J,Schoeberlein A,Dunner S,Ménissier F,Massabanda J,Fries R,Hanset R,Georges M

    更新日期:1997-09-01 00:00:00

  • Mutations in SEC63 cause autosomal dominant polycystic liver disease.

    abstract::Mutations in PRKCSH, encoding the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum (ER), cause autosomal dominant polycystic liver disease. We found that mutations in SEC63, encoding a component of the protein translocation machinery in the ER, also cause this disease. ...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Davila S,Furu L,Gharavi AG,Tian X,Onoe T,Qian Q,Li A,Cai Y,Kamath PS,King BF,Azurmendi PJ,Tahvanainen P,Kääriäinen H,Höckerstedt K,Devuyst O,Pirson Y,Martin RS,Lifton RP,Tahvanainen E,Torres VE,Somlo S

    更新日期:2004-06-01 00:00:00

  • Transferability of tag SNPs in genetic association studies in multiple populations.

    abstract::A general question for linkage disequilibrium-based association studies is how power to detect an association is compromised when tag SNPs are chosen from data in one population sample and then deployed in another sample. Specifically, it is important to know how well tags picked from the HapMap DNA samples capture th...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: de Bakker PI,Burtt NP,Graham RR,Guiducci C,Yelensky R,Drake JA,Bersaglieri T,Penney KL,Butler J,Young S,Onofrio RC,Lyon HN,Stram DO,Haiman CA,Freedman ML,Zhu X,Cooper R,Groop L,Kolonel LN,Henderson BE,Daly MJ,Hi

    更新日期:2006-11-01 00:00:00

  • TET proteins safeguard bivalent promoters from de novo methylation in human embryonic stem cells.

    abstract::TET enzymes oxidize 5-methylcytosine (5mC) to 5-hydroxymethylcytosine (5hmC), which can lead to DNA demethylation. However, direct connections between TET-mediated DNA demethylation and transcriptional output are difficult to establish owing to challenges in distinguishing global versus locus-specific effects. Here we...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Verma N,Pan H,Doré LC,Shukla A,Li QV,Pelham-Webb B,Teijeiro V,González F,Krivtsov A,Chang CJ,Papapetrou EP,He C,Elemento O,Huangfu D

    更新日期:2018-01-01 00:00:00

  • Mammalian ultraconserved elements are strongly depleted among segmental duplications and copy number variants.

    abstract::An earlier search in the human, mouse and rat genomes for sequences that are 100% conserved in orthologous segments and > or = 200 bp in length identified 481 distinct sequences. These human-mouse-rat sequences, which represent ultraconserved elements (UCEs), are believed to be important for functions involving DNA bi...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Derti A,Roth FP,Church GM,Wu CT

    更新日期:2006-10-01 00:00:00

  • SMC1beta-deficient female mice provide evidence that cohesins are a missing link in age-related nondisjunction.

    abstract::Mitotic chromosome segregation is facilitated by the cohesin complex, which maintains physical connections between sister chromatids until anaphase. Meiotic cell division is considerably more complex, as cohesion must be released sequentially to facilitate orderly segregation of chromosomes at both meiosis I and meios...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Hodges CA,Revenkova E,Jessberger R,Hassold TJ,Hunt PA

    更新日期:2005-12-01 00:00:00

  • PKD1 interacts with PKD2 through a probable coiled-coil domain.

    abstract::Autosomal dominant polycystic kidney disease (ADPKD) describes a group of at least three genetically distinct disorders with almost identical clinical features that collectively affects 1:1,000 of the population. Affected individuals typically develop large cystic kidneys and approximately one half develop end-stage r...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Qian F,Germino FJ,Cai Y,Zhang X,Somlo S,Germino GG

    更新日期:1997-06-01 00:00:00

  • Another piece of the autism puzzle.

    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


    authors: State MW

    更新日期:2010-06-01 00:00:00

  • Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.

    abstract::Spinocerebellar ataxia type I (SCAI) is an autosomal dominant neurodegenerative disease caused by the expansion of a CAG trinucleotide repeat on chromosome 6p. Normal alleles range from 19-36 repeats while SCA1 alleles contain 43-81 repeats. We now show that in 63% of paternal transmissions, an increase in repeat numb...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Chung MY,Ranum LP,Duvick LA,Servadio A,Zoghbi HY,Orr HT

    更新日期:1993-11-01 00:00:00

  • Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

    abstract::Allelic heterogeneity in disease-causing genes presents a substantial challenge to the translation of genomic variation into clinical practice. Few of the almost 2,000 variants in the cystic fibrosis transmembrane conductance regulator gene CFTR have empirical evidence that they cause cystic fibrosis. To address this ...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Sosnay PR,Siklosi KR,Van Goor F,Kaniecki K,Yu H,Sharma N,Ramalho AS,Amaral MD,Dorfman R,Zielenski J,Masica DL,Karchin R,Millen L,Thomas PJ,Patrinos GP,Corey M,Lewis MH,Rommens JM,Castellani C,Penland CM,Cutting GR

    更新日期:2013-10-01 00:00:00

  • Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis.

    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


    authors: Painter JN,Anderson CA,Nyholt DR,Macgregor S,Lin J,Lee SH,Lambert A,Zhao ZZ,Roseman F,Guo Q,Gordon SD,Wallace L,Henders AK,Visscher PM,Kraft P,Martin NG,Morris AP,Treloar SA,Kennedy SH,Missmer SA,Montgomery GW,Z

    更新日期:2011-01-01 00:00:00

  • A recurrent inactivating mutation in RHOA GTPase in angioimmunoblastic T cell lymphoma.

    abstract::The molecular mechanisms underlying angioimmunoblastic T cell lymphoma (AITL), a common type of mature T cell lymphoma of poor prognosis, are largely unknown. Here we report a frequent somatic mutation in RHOA (encoding p.Gly17Val) using exome and transcriptome sequencing of samples from individuals with AITL. Further...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Yoo HY,Sung MK,Lee SH,Kim S,Lee H,Park S,Kim SC,Lee B,Rho K,Lee JE,Cho KH,Kim W,Ju H,Kim J,Kim SJ,Kim WS,Lee S,Ko YH

    更新日期:2014-04-01 00:00:00

  • Publisher Correction: Immune genes are primed for robust transcription by proximal long noncoding RNAs located in nuclear compartments.

    abstract::In the version of this article initially published, '+' and '-' labels were missing from the graph keys at the bottom of Fig. 8d. The error has been corrected in the HTML and PDF versions of the article. ...

    journal_title:Nature genetics

    pub_type: 杂志文章,已发布勘误


    authors: Fanucchi S,Fok ET,Dalla E,Shibayama Y,Börner K,Chang EY,Stoychev S,Imakaev M,Grimm D,Wang KC,Li G,Sung WK,Mhlanga MM

    更新日期:2019-02-01 00:00:00

  • The molecular basis of the human serum paraoxonase activity polymorphism.

    abstract::The organophosphate cholinesterase inhibitor paraoxon is hydrolysed by serum paraoxonase/arylesterase. A genetic polymorphism of paraoxonase (PON) activity which determines high versus low paraoxon hydrolysis in human populations, may determine sensitivity to parathion poisoning. We demonstrate that arginine at positi...

    journal_title:Nature genetics

    pub_type: 杂志文章


    authors: Humbert R,Adler DA,Disteche CM,Hassett C,Omiecinski CJ,Furlong CE

    更新日期:1993-01-01 00:00:00