Inactivation of Capicua drives cancer metastasis.

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

authors： Testa JR,Cheung M,Pei J,Below JE,Tan Y,Sementino E,Cox NJ,Dogan AU,Pass HI,Trusa S,Hesdorffer M,Nasu M,Powers A,Rivera Z,Comertpay S,Tanji M,Gaudino G,Yang H,Carbone M

更新日期：2011-08-28 00:00:00

abstract：:Characterizing fine-scale variation in human recombination rates is important, both to deepen understanding of the recombination process and to aid the design of disease association studies. Current genetic maps show that rates vary on a megabase scale, but studying finer-scale variation using pedigrees is difficult. ...

journal_title：Nature genetics

authors： Crawford DC,Bhangale T,Li N,Hellenthal G,Rieder MJ,Nickerson DA,Stephens M

更新日期：2004-07-01 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

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

abstract：:Alström syndrome (OMIM 203800) is an autosomal recessive disease, characterized by cone-rod retinal dystrophy, cardiomyopathy and type 2 diabetes mellitus, that has been mapped to chromosome 2p13 (refs 1-5). We have studied an individual with Alström syndrome carrying a familial balanced reciprocal chromosome transloc...

journal_title：Nature genetics

authors： Hearn T,Renforth GL,Spalluto C,Hanley NA,Piper K,Brickwood S,White C,Connolly V,Taylor JF,Russell-Eggitt I,Bonneau D,Walker M,Wilson DI

更新日期：2002-05-01 00:00:00

abstract：:Both polygenicity (many small genetic effects) and confounding biases, such as cryptic relatedness and population stratification, can yield an inflated distribution of test statistics in genome-wide association studies (GWAS). However, current methods cannot distinguish between inflation from a true polygenic signal a...

journal_title：Nature genetics

authors： Bulik-Sullivan BK,Loh PR,Finucane HK,Ripke S,Yang J,Schizophrenia Working Group of the Psychiatric Genomics Consortium.,Patterson N,Daly MJ,Price AL,Neale BM

更新日期：2015-03-01 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：:Most candidate drugs currently fail later-stage clinical trials, largely due to poor prediction of efficacy on early target selection1. Drug targets with genetic support are more likely to be therapeutically valid2,3, but the translational use of genome-scale data such as from genome-wide association studies for drug ...

journal_title：Nature genetics

authors： Fang H,ULTRA-DD Consortium.,De Wolf H,Knezevic B,Burnham KL,Osgood J,Sanniti A,Lledó Lara A,Kasela S,De Cesco S,Wegner JK,Handunnetthi L,McCann FE,Chen L,Sekine T,Brennan PE,Marsden BD,Damerell D,O'Callaghan CA,Boun

更新日期：2019-07-01 00:00:00

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

authors： Thye T,Owusu-Dabo E,Vannberg FO,van Crevel R,Curtis J,Sahiratmadja E,Balabanova Y,Ehmen C,Muntau B,Ruge G,Sievertsen J,Gyapong J,Nikolayevskyy V,Hill PC,Sirugo G,Drobniewski F,van de Vosse E,Newport M,Alisjahbana B,

更新日期：2012-02-05 00:00:00

abstract：:Legionella pneumophila, the causative agent of Legionnaires' disease, replicates as an intracellular parasite of amoebae and persists in the environment as a free-living microbe. Here we have analyzed the complete genome sequences of L. pneumophila Paris (3,503,610 bp, 3,077 genes), an endemic strain that is predomina...

journal_title：Nature genetics

authors： Cazalet C,Rusniok C,Brüggemann H,Zidane N,Magnier A,Ma L,Tichit M,Jarraud S,Bouchier C,Vandenesch F,Kunst F,Etienne J,Glaser P,Buchrieser C

更新日期：2004-11-01 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：: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

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

abstract：:Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by hypopigmentation, severe immunologic deficiency with neutropenia and lack of natural killer (NK) cells, a bleeding tendency and neurologic abnormalities. Most patients die in childhood. The CHS hallmark is the occurrence of giant i...

journal_title：Nature genetics

authors： Nagle DL,Karim MA,Woolf EA,Holmgren L,Bork P,Misumi DJ,McGrail SH,Dussault BJ Jr,Perou CM,Boissy RE,Duyk GM,Spritz RA,Moore KJ

更新日期：1996-11-01 00:00:00

abstract：:The lipodystrophies are a group of disorders characterized by the absence or reduction of subcutaneous adipose tissue. Partial lipodystrophy (PLD; MIM 151660) is an inherited condition in which a regional (trunk and limbs) loss of fat occurs during the peri-pubertal phase. Additionally, variable degrees of resistance ...

journal_title：Nature genetics

authors： Shackleton S,Lloyd DJ,Jackson SN,Evans R,Niermeijer MF,Singh BM,Schmidt H,Brabant G,Kumar S,Durrington PN,Gregory S,O'Rahilly S,Trembath RC

更新日期：2000-02-01 00:00:00

abstract：: ...

journal_title：Nature genetics

authors： Cousminer DL,Grant SFA

更新日期：2018-11-01 00:00:00

abstract：:The genome sequence assembly of the highly heterozygous Ananas comosus and its varieties is an impressive technical achievement. The sequence opens the door to a greater understanding of pineapple morphology and evolution. ...

journal_title：Nature genetics

authors： Xu Q,Liu ZJ

更新日期：2015-12-01 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

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

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

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

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

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

更新日期：1997-10-01 00:00:00

abstract：:As genetic marker maps have improved, multipoint linkage analysis has become a crucial part of all disease mapping studies. Paradoxically, multipoint lod scores become increasingly difficult to compute, particularly as the numbers of markers, marker alleles and untyped people increase. We have solved this problem by u...

journal_title：Nature genetics

authors： O'Connell JR,Weeks DE

更新日期：1995-12-01 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

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

abstract：:The past decade has seen great advances in unraveling the biological basis of hereditary ataxias. Molecular studies of spinocerebellar ataxias (SCA) have extended our understanding of dominant ataxias. Causative genes have been identified for a few autosomal recessive ataxias: Friedreich's ataxia, ataxia with vitamin ...

journal_title：Nature genetics

authors： Gros-Louis F,Dupré N,Dion P,Fox MA,Laurent S,Verreault S,Sanes JR,Bouchard JP,Rouleau GA

更新日期：2007-01-01 00:00:00

abstract：:Genome-wide association studies have previously identified variants in SLC30A8, encoding the zinc transporter ZnT8, associated with diabetes risk. A rare variant association study has now established the direction of effect, surprisingly showing that loss-of-function mutations in SLC30A8 are protective against diabete...

journal_title：Nature genetics

authors： Pearson E

更新日期：2014-04-01 00:00:00

abstract：:Familial hypomagnesemia with secondary hypocalcemia (OMIM 602014) is an autosomal recessive disease that results in electrolyte abnormalities shortly after birth. Affected individuals show severe hypomagnesemia and hypocalcemia, which lead to seizures and tetany. The disorder has been thought to be caused by a defect ...

journal_title：Nature genetics

authors： Walder RY,Landau D,Meyer P,Shalev H,Tsolia M,Borochowitz Z,Boettger MB,Beck GE,Englehardt RK,Carmi R,Sheffield VC

更新日期：2002-06-01 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：:Cell size is determined by the balance between protein synthesis and degradation. This equilibrium is affected by hormones, nutrients, energy levels, mechanical stress and cytokines. Mutations that inactivate myostatin lead to excessive muscle growth in animals and humans, but the signals and pathways responsible for ...

journal_title：Nature genetics

authors： Sartori R,Schirwis E,Blaauw B,Bortolanza S,Zhao J,Enzo E,Stantzou A,Mouisel E,Toniolo L,Ferry A,Stricker S,Goldberg AL,Dupont S,Piccolo S,Amthor H,Sandri M

更新日期：2013-11-01 00:00:00

abstract：:The DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a relatively common human disorder, usually associated with deletions of chromosome 22q11. The genetic basis for the wide range of developmental anomalies in the heart, glands and facial structures has been elusive. We have investigated the potential role of one can...

journal_title：Nature genetics

authors： Jerome LA,Papaioannou VE

更新日期：2001-03-01 00:00:00

abstract：:It is now feasible to map disease genes by screening the genome for linkage disequilibrium between the disease and marker alleles. This report presents the first application of this approach for a previously unmapped locus. A gene for benign recurrent intrahepatic cholestasis (BRIC) was mapped to chromosome 18 by sear...

journal_title：Nature genetics

authors： Houwen RH,Baharloo S,Blankenship K,Raeymaekers P,Juyn J,Sandkuijl LA,Freimer NB

更新日期：1994-12-01 00:00:00

abstract：:A new study shows that HOXB13 is preferentially recruited to the risk allele of a prostate cancer-associated SNP, enhancing the expression of RFX6, a driver of prostate cancer cell migration and predictor of disease progression. The work illustrates how a single risk locus contributes both to prostate cancer incidence...

journal_title：Nature genetics

authors： Mills IG

更新日期：2014-02-01 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

authors： Chu X,Pan CM,Zhao SX,Liang J,Gao GQ,Zhang XM,Yuan GY,Li CG,Xue LQ,Shen M,Liu W,Xie F,Yang SY,Wang HF,Shi JY,Sun WW,Du WH,Zuo CL,Shi JX,Liu BL,Guo CC,Zhan M,Gu ZH,Zhang XN,Sun F,Wang ZQ,Song ZY,Zou CY

更新日期：2011-08-14 00:00:00

abstract：:We have previously shown that ASPP1 and ASPP2 are specific activators of p53; one mechanism by which wild-type p53 is tolerated in human breast carcinomas is through loss of ASPP activity. We have further shown that 53BP2, which corresponds to a C-terminal fragment of ASPP2, acts as a dominant negative inhibitor of p5...

journal_title：Nature genetics

authors： Bergamaschi D,Samuels Y,O'Neil NJ,Trigiante G,Crook T,Hsieh JK,O'Connor DJ,Zhong S,Campargue I,Tomlinson ML,Kuwabara PE,Lu X

更新日期：2003-02-01 00:00:00