The transcriptomic landscape and directed chemical interrogation of MLL-rearranged acute myeloid leukemias.

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

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

abstract：:The rate at which allelic diversity at the HLA loci evolves has been the subject of considerable controversy. The patchwork pattern of sequence polymorphism within the second exon of the HLA class II loci, particularly in the DPB1 locus, may have been generated by segmental exchange (gene conversion). We have analysed...

journal_title：Nature genetics

authors： Zangenberg G,Huang MM,Arnheim N,Erlich H

更新日期：1995-08-01 00:00:00

abstract：:Restless legs syndrome (RLS) is a frequent neurological disorder characterized by an imperative urge to move the legs during night, unpleasant sensation in the lower limbs, disturbed sleep and increased cardiovascular morbidity. In a genome-wide association study we found highly significant associations between RLS an...

journal_title：Nature genetics

authors： Winkelmann J,Schormair B,Lichtner P,Ripke S,Xiong L,Jalilzadeh S,Fulda S,Pütz B,Eckstein G,Hauk S,Trenkwalder C,Zimprich A,Stiasny-Kolster K,Oertel W,Bachmann CG,Paulus W,Peglau I,Eisensehr I,Montplaisir J,Turecki G

更新日期：2007-08-01 00:00:00

abstract：:Cell division is controlled by a series of positive and negative regulators which act at sequential points throughout the cell cycle. Disturbance of these checks could contribute to cancer by allowing excessive cell proliferation. The point in G1 at which cells irrevocably commit to DNA synthesis is controlled by prot...

journal_title：Nature genetics

authors： Ranade K,Hussussian CJ,Sikorski RS,Varmus HE,Goldstein AM,Tucker MA,Serrano M,Hannon GJ,Beach D,Dracopoli NC

更新日期：1995-05-01 00:00:00

abstract：:Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] famil...

journal_title：Nature genetics

authors： Autism Genome Project Consortium.,Szatmari P,Paterson AD,Zwaigenbaum L,Roberts W,Brian J,Liu XQ,Vincent JB,Skaug JL,Thompson AP,Senman L,Feuk L,Qian C,Bryson SE,Jones MB,Marshall CR,Scherer SW,Vieland VJ,Bartlett C,

更新日期：2007-03-01 00:00:00

abstract：:Kawasaki disease is a pediatric systemic vasculitis of unknown etiology for which a genetic influence is suspected. We identified a functional SNP (itpkc_3) in the inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) gene on chromosome 19q13.2 that is significantly associated with Kawasaki disease susceptibility and also w...

journal_title：Nature genetics

authors： Onouchi Y,Gunji T,Burns JC,Shimizu C,Newburger JW,Yashiro M,Nakamura Y,Yanagawa H,Wakui K,Fukushima Y,Kishi F,Hamamoto K,Terai M,Sato Y,Ouchi K,Saji T,Nariai A,Kaburagi Y,Yoshikawa T,Suzuki K,Tanaka T,Nagai T,

更新日期：2008-01-01 00:00:00

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

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

更新日期：2007-03-01 00:00:00

abstract：:The apolipoprotein E (APOE) E4 allele is associated with Alzheimer's disease, cardiovascular disease, and decreased longevity. To probe the mechanism of these associations, cell lines were created which secrete each apoE isoform. ApoE conditioned media, purified apoE, and commercially obtained apoE protected B12 cells...

journal_title：Nature genetics

authors： Miyata M,Smith JD

更新日期：1996-09-01 00:00:00

abstract：:From chromosomal region 17q21.3, where a tumour suppressor gene(s) for breast and ovarian cancers is thought to be present, we have isolated a novel gene from a cosmid clone that revealed somatic rearrangements in two breast cancers. The gene (MDC) encodes a 524-amino acid metalloprotease-like, disintegrin-like and cy...

journal_title：Nature genetics

authors： Emi M,Katagiri T,Harada Y,Saito H,Inazawa J,Ito I,Kasumi F,Nakamura Y

更新日期：1993-10-01 00:00:00

abstract：:In the version of this article initially published, affiliation 38 incorrectly read "ICNU-Nephrology and Urology Department, Barcelona, Spain"; "Renal Division, Hospital Clinic, IDIBAPS, University of Barcelona, Barcelona, Spain" is the correct affiliation. The error has been corrected in the HTML and PDF versions of ...

journal_title：Nature genetics

authors： Verbitsky M,Westland R,Perez A,Kiryluk K,Liu Q,Krithivasan P,Mitrotti A,Fasel DA,Batourina E,Sampson MG,Bodria M,Werth M,Kao C,Martino J,Capone VP,Vivante A,Shril S,Kil BH,Marasa M,Zhang JY,Na YJ,Lim TY,Ahram

更新日期：2019-04-01 00:00:00

abstract：:Head or ear blight, mainly caused by Fusarium species, can devastate almost all staple cereal crops (particularly wheat), resulting in great economic loss and imposing health threats on both human beings and livestock1-3. However, achievement in breeding for highly resistant cultivars is still not satisfactory. Here, ...

journal_title：Nature genetics

authors： Li G,Zhou J,Jia H,Gao Z,Fan M,Luo Y,Zhao P,Xue S,Li N,Yuan Y,Ma S,Kong Z,Jia L,An X,Jiang G,Liu W,Cao W,Zhang R,Fan J,Xu X,Liu Y,Kong Q,Zheng S,Wang Y,Qin B,Cao S,Ding Y,Shi J,Yan H,Wang X,Ran

更新日期：2019-07-01 00:00:00

abstract：:We report that mutation in the gene for plectin, a cytoskeleton-membrane anchorage protein, is a cause of autosomal recessive muscular dystrophy associated with skin blistering (epidermolysis bullosa simplex). The evidence comes from absence of plectin by antibody staining in affected individuals from four families, s...

journal_title：Nature genetics

authors： Smith FJ,Eady RA,Leigh IM,McMillan JR,Rugg EL,Kelsell DP,Bryant SP,Spurr NK,Geddes JF,Kirtschig G,Milana G,de Bono AG,Owaribe K,Wiche G,Pulkkinen L,Uitto J,McLean WH,Lane EB

更新日期：1996-08-01 00:00:00

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

journal_title：Nature genetics

authors： 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

更新日期：2020-04-01 00:00:00

abstract：:The degree to which genetic factors influence human intelligence remains a matter of some controversy. However, there is little doubt that single gene mutations can significantly alter brain development and function. For example, mutations affecting the FMR1 gene cause the fragile X syndrome, the most prevalent known ...

journal_title：Nature genetics

authors： Reiss AL,Freund LS,Baumgardner TL,Abrams MT,Denckla MB

更新日期：1995-11-01 00:00:00

abstract：:Wilson disease (WD) is an autosomal recessive disorder of copper transport which map to chromosome 13q14.3. In pursuit of the WD gene, we developed yeast artificial chromosome and cosmid contigs, and microsatellite markers which span the WD gene region. Linkage disequilibrium and haplotype analysis of 115 WD families ...

journal_title：Nature genetics

authors： Petrukhin K,Fischer SG,Pirastu M,Tanzi RE,Chernov I,Devoto M,Brzustowicz LM,Cayanis E,Vitale E,Russo JJ

更新日期：1993-12-01 00:00:00

abstract：:We performed a whole-genome association analysis of lung tumor susceptibility using dense SNP maps ( approximately 1 SNP per 20 kb) in inbred mice. We reproduced the pulmonary adenoma susceptibility 1 (Pas1) locus identified in previous linkage studies and further narrowed this quantitative trait locus (QTL) to a regi...

journal_title：Nature genetics

authors： Liu P,Wang Y,Vikis H,Maciag A,Wang D,Lu Y,Liu Y,You M

更新日期：2006-08-01 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

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

abstract：:Friedreich's ataxia is due to loss of function mutations in the gene encoding frataxin (FRDA). Frataxin is a protein of unknown function. In situ hybridization analyses revealed that mouse frataxin expression correlates well with the main site of neurodegeneration, but the expression pattern is broader than expected f...

journal_title：Nature genetics

authors： Koutnikova H,Campuzano V,Foury F,Dollé P,Cazzalini O,Koenig M

更新日期：1997-08-01 00:00:00

abstract：:DNA repair defects in the xeroderma pigmentosum (XP) group D complementation group can be associated with the clinical features of two quite different disorders; XP, a sun-sensitive and cancer-prone disorder, or trichothiodystrophy (TTD) which is characterized by sulphur-deficient brittle hair and a variety of other a...

journal_title：Nature genetics

authors： Broughton BC,Steingrimsdottir H,Weber CA,Lehmann AR

更新日期：1994-06-01 00:00:00

abstract：:Follicular lymphoma (FL) and the GCB subtype of diffuse large B-cell lymphoma (DLBCL) derive from germinal center B cells. Targeted resequencing studies have revealed mutations in various genes encoding proteins in the NF-kappaB pathway that contribute to the activated B-cell (ABC) DLBCL subtype, but thus far few GCB-...

journal_title：Nature genetics

authors： Morin RD,Johnson NA,Severson TM,Mungall AJ,An J,Goya R,Paul JE,Boyle M,Woolcock BW,Kuchenbauer F,Yap D,Humphries RK,Griffith OL,Shah S,Zhu H,Kimbara M,Shashkin P,Charlot JF,Tcherpakov M,Corbett R,Tam A,Varhol R

更新日期：2010-02-01 00:00:00

abstract：:Metastasis is the leading cause of death in people with lung cancer, yet the molecular effectors underlying tumor dissemination remain poorly defined. Through the development of an in vivo spontaneous lung cancer metastasis model, we show that the developmentally regulated transcriptional repressor Capicua (CIC) suppr...

journal_title：Nature genetics

authors： Okimoto RA,Breitenbuecher F,Olivas VR,Wu W,Gini B,Hofree M,Asthana S,Hrustanovic G,Flanagan J,Tulpule A,Blakely CM,Haringsma HJ,Simmons AD,Gowen K,Suh J,Miller VA,Ali S,Schuler M,Bivona TG

更新日期：2017-01-01 00:00:00

abstract：:Genetic linkage studies with chromosome 21 DNA markers and mutation analysis of the beta-amyloid protein precursor gene located in 21q21.3 have indicated that early-onset Alzheimer's disease (EOAD) is a heterogeneous disorder for which at least one other chromosomal locus exists. We examined two extended histopatholog...

journal_title：Nature genetics

authors： Van Broeckhoven C,Backhovens H,Cruts M,De Winter G,Bruyland M,Cras P,Martin JJ

更新日期：1992-12-01 00:00:00

abstract：:Inactivation of TGF-beta family signaling is implicated in colorectal tumor progression. Using cis-Apc(+/Delta716) Smad4(+/-) mutant mice (referred to as cis-Apc/Smad4), a model of invasive colorectal cancer in which TGF-beta family signaling is blocked, we show here that a new type of immature myeloid cell (iMC) is r...

journal_title：Nature genetics

authors： Kitamura T,Kometani K,Hashida H,Matsunaga A,Miyoshi H,Hosogi H,Aoki M,Oshima M,Hattori M,Takabayashi A,Minato N,Taketo MM

更新日期：2007-04-01 00:00:00

abstract：:In mouse and man, deletions of specific regions of the Y chromosome have been linked to early failure of spermatogenesis and consequent sterility; the Y chromosomal gene(s) with this essential early role in spermatogenesis have not been identified. The partial deletion of the mouse Y short arm (the Sxrb deletion) that...

journal_title：Nature genetics

authors： Mazeyrat S,Saut N,Grigoriev V,Mahadevaiah SK,Ojarikre OA,Rattigan A,Bishop C,Eicher EM,Mitchell MJ,Burgoyne PS

更新日期：2001-09-01 00:00:00

abstract：:Hundreds of genes reside in structurally complex, poorly understood regions of the human genome. One such region contains the three amylase genes (AMY2B, AMY2A and AMY1) responsible for digesting starch into sugar. Copy number of AMY1 is reported to be the largest genomic influence on obesity, although genome-wide ass...

journal_title：Nature genetics

authors： Usher CL,Handsaker RE,Esko T,Tuke MA,Weedon MN,Hastie AR,Cao H,Moon JE,Kashin S,Fuchsberger C,Metspalu A,Pato CN,Pato MT,McCarthy MI,Boehnke M,Altshuler DM,Frayling TM,Hirschhorn JN,McCarroll SA

更新日期：2015-08-01 00:00:00

abstract：:A scarlet fever outbreak began in mainland China and Hong Kong in 2011 (refs. 1-6). Macrolide- and tetracycline-resistant Streptococcus pyogenes emm12 isolates represent the majority of clinical cases. Recently, we identified two mobile genetic elements that were closely associated with emm12 outbreak isolates: the in...

journal_title：Nature genetics

authors： Davies MR,Holden MT,Coupland P,Chen JH,Venturini C,Barnett TC,Zakour NL,Tse H,Dougan G,Yuen KY,Walker MJ

更新日期：2015-01-01 00:00:00

abstract：:High plasma concentrations of apolipoprotein (a) (apo(a)) have been implicated as a major independent risk factor for atherosclerosis in humans. Apo(a) is a large, evolutionarily new gene (present primarily in primates) for which considerable controversy exists concerning the factors that regulate its expression. To i...

journal_title：Nature genetics

authors： Frazer KA,Narla G,Zhang JL,Rubin EM

更新日期：1995-04-01 00:00:00

abstract：:Charting differences between tumors and normal tissue is a mainstay of cancer research. However, clonal tumor expansion from complex normal tissue architectures potentially obscures cancer-specific events, including divergent epigenetic patterns. Using whole-genome bisulfite sequencing of normal B cell subsets, we obs...

journal_title：Nature genetics

authors： Oakes CC,Seifert M,Assenov Y,Gu L,Przekopowitz M,Ruppert AS,Wang Q,Imbusch CD,Serva A,Koser SD,Brocks D,Lipka DB,Bogatyrova O,Weichenhan D,Brors B,Rassenti L,Kipps TJ,Mertens D,Zapatka M,Lichter P,Döhner H,Küppe

更新日期：2016-03-01 00:00:00

abstract：:Breast cancer is the most prevalent cancer in women, and over two-thirds of cases express estrogen receptor-α (ER-α, encoded by ESR1). Through a prospective clinical sequencing program for advanced cancers, we enrolled 11 patients with ER-positive metastatic breast cancer. Whole-exome and transcriptome analysis showed...

journal_title：Nature genetics

authors： Robinson DR,Wu YM,Vats P,Su F,Lonigro RJ,Cao X,Kalyana-Sundaram S,Wang R,Ning Y,Hodges L,Gursky A,Siddiqui J,Tomlins SA,Roychowdhury S,Pienta KJ,Kim SY,Roberts JS,Rae JM,Van Poznak CH,Hayes DF,Chugh R,Kunju LP,

更新日期：2013-12-01 00:00:00

abstract：:Chromosome region 1q21.1 contains extensive and complex low-copy repeats, and copy number variants (CNVs) in this region have recently been reported in association with congenital heart defects, developmental delay, schizophrenia and related psychoses. We describe 21 probands with the 1q21.1 microdeletion and 15 proba...

journal_title：Nature genetics

authors： Brunetti-Pierri N,Berg JS,Scaglia F,Belmont J,Bacino CA,Sahoo T,Lalani SR,Graham B,Lee B,Shinawi M,Shen J,Kang SH,Pursley A,Lotze T,Kennedy G,Lansky-Shafer S,Weaver C,Roeder ER,Grebe TA,Arnold GL,Hutchison T,Rei

更新日期：2008-12-01 00:00:00