Signalling by the W/Kit receptor tyrosine kinase is negatively regulated in vivo by the protein tyrosine phosphatase Shp1.

abstract：:Linkage disequilibrium (LD) is a major aspect of the organization of genetic variation in natural populations. Here we describe the genome-wide pattern of LD in a sample of 19 Arabidopsis thaliana accessions using 341,602 non-singleton SNPs. LD decays within 10 kb on average, considerably faster than previously estima...

journal_title：Nature genetics

authors： Kim S,Plagnol V,Hu TT,Toomajian C,Clark RM,Ossowski S,Ecker JR,Weigel D,Nordborg M

更新日期：2007-09-01 00:00:00

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

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

abstract：:We genotyped 2,861 cases of primary biliary cirrhosis (PBC) from the UK PBC Consortium and 8,514 UK population controls across 196,524 variants within 186 known autoimmune risk loci. We identified 3 loci newly associated with PBC (at P<5×10(-8)), increasing the number of known susceptibility loci to 25. The most assoc...

journal_title：Nature genetics

authors： Liu JZ,Almarri MA,Gaffney DJ,Mells GF,Jostins L,Cordell HJ,Ducker SJ,Day DB,Heneghan MA,Neuberger JM,Donaldson PT,Bathgate AJ,Burroughs A,Davies MH,Jones DE,Alexander GJ,Barrett JC,Sandford RN,Anderson CA,UK Primary

更新日期：2012-10-01 00:00:00

abstract：:Domestication of cereal crops, such as maize, wheat and rice, had a profound influence on agriculture and the establishment of human civilizations. One major improvement was an increase in seed number per inflorescence, which enhanced yield and simplified harvesting and storage. The ancestor of maize, teosinte, makes ...

journal_title：Nature genetics

authors： Bommert P,Nagasawa NS,Jackson D

更新日期：2013-03-01 00:00:00

abstract：:We performed a genome-wide association study of non-Hispanic, white individuals with fibrotic idiopathic interstitial pneumonias (IIPs; n = 1,616) and controls (n = 4,683), with follow-up replication analyses in 876 cases and 1,890 controls. We confirmed association with TERT at 5p15, MUC5B at 11p15 and the 3q26 regio...

journal_title：Nature genetics

authors： Fingerlin TE,Murphy E,Zhang W,Peljto AL,Brown KK,Steele MP,Loyd JE,Cosgrove GP,Lynch D,Groshong S,Collard HR,Wolters PJ,Bradford WZ,Kossen K,Seiwert SD,du Bois RM,Garcia CK,Devine MS,Gudmundsson G,Isaksson HJ,Kami

更新日期：2013-06-01 00:00:00

abstract：:Congenital heart malformation (CHM) is the most common form of congenital human birth anomaly and is the leading cause of infant mortality. Although some causative genes have been identified, little progress has been made in identifying genes in which low-penetrance susceptibility variants occur in the majority of spo...

journal_title：Nature genetics

authors： Hu Z,Shi Y,Mo X,Xu J,Zhao B,Lin Y,Yang S,Xu Z,Dai J,Pan S,Da M,Wang X,Qian B,Wen Y,Wen J,Xing J,Guo X,Xia Y,Ma H,Jin G,Yu S,Liu J,Zhou Z,Wang X,Chen Y,Sha J,Shen H

更新日期：2013-07-01 00:00:00

abstract：:The promyelocytic leukaemia zinc finger (Plzf) protein (encoded by the gene Zfp145) belongs to the POZ/zinc-finger family of transcription factors. Here we generate Zfp145-/- mice and show that Plzf is essential for patterning of the limb and axial skeleton. Plzf inactivation results in patterning defects affecting al...

journal_title：Nature genetics

authors： Barna M,Hawe N,Niswander L,Pandolfi PP

更新日期：2000-06-01 00:00:00

abstract：:The abundance of transposable elements and DNA repeat sequences in mammalian genomes raises the question of whether such insertions represent passive evolutionary baggage or may influence the expression of complex traits. We addressed this question in Drosophila melanogaster, in which the effects of single transposabl...

journal_title：Nature genetics

authors： Rollmann SM,Magwire MM,Morgan TJ,Ozsoy ED,Yamamoto A,Mackay TF,Anholt RR

更新日期：2006-07-01 00:00:00

abstract：:Recent agreement on stable reference sequences for reporting human genetic variants now allows us to mandate the use of the allele naming conventions developed by the Human Genome Variation Society. ...

journal_title：Nature genetics

authors：

更新日期：2010-05-01 00:00:00

abstract：:Estimating individual ancestry is important in genetic association studies where population structure leads to false positive signals, although assigning ancestry remains challenging with targeted sequence data. We propose a new method for the accurate estimation of individual genetic ancestry, based on direct analysi...

journal_title：Nature genetics

authors： Wang C,Zhan X,Bragg-Gresham J,Kang HM,Stambolian D,Chew EY,Branham KE,Heckenlively J,FUSION Study.,Fulton R,Wilson RK,Mardis ER,Lin X,Swaroop A,Zöllner S,Abecasis GR

更新日期：2014-04-01 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： Henssen AG,Koche R,Zhuang J,Jiang E,Reed C,Eisenberg A,Still E,MacArthur IC,Rodríguez-Fos E,Gonzalez S,Puiggròs M,Blackford AN,Mason CE,de Stanchina E,Gönen M,Emde AK,Shah M,Arora K,Reeves C,Socci ND,Perlman E,A

更新日期：2020-11-01 00:00:00

abstract：:We carried out a genome-wide association study of lung cancer (3,259 cases and 4,159 controls), followed by replication in 2,899 cases and 5,573 controls. Two uncorrelated disease markers at 5p15.33, rs402710 and rs2736100 were detected by the genome-wide data (P = 2 x 10(-7) and P = 4 x 10(-6)) and replicated by the ...

journal_title：Nature genetics

authors： McKay JD,Hung RJ,Gaborieau V,Boffetta P,Chabrier A,Byrnes G,Zaridze D,Mukeria A,Szeszenia-Dabrowska N,Lissowska J,Rudnai P,Fabianova E,Mates D,Bencko V,Foretova L,Janout V,McLaughlin J,Shepherd F,Montpetit A,Narod S

更新日期：2008-12-01 00:00:00

abstract：:Deletions of the PAFAH1B1 gene (encoding LIS1) in 17p13.3 result in isolated lissencephaly sequence, and extended deletions including the YWHAE gene (encoding 14-3-3epsilon) cause Miller-Dieker syndrome. We identified seven unrelated individuals with submicroscopic duplication in 17p13.3 involving the PAFAH1B1 and/or ...

journal_title：Nature genetics

authors： Bi W,Sapir T,Shchelochkov OA,Zhang F,Withers MA,Hunter JV,Levy T,Shinder V,Peiffer DA,Gunderson KL,Nezarati MM,Shotts VA,Amato SS,Savage SK,Harris DJ,Day-Salvatore DL,Horner M,Lu XY,Sahoo T,Yanagawa Y,Beaudet AL,

更新日期：2009-02-01 00:00:00

abstract：:Human-derived tumor models are becoming popular in the context of personalized medicine, but a new study shows that these models could be less representative of primary tumors than previously thought, particularly when using late passages. ...

journal_title：Nature genetics

authors： Villacorta-Martin C,Craig AJ,Villanueva A

更新日期：2017-10-27 00:00:00

abstract：:Stress tolerance of the heart requires high-fidelity metabolic sensing by ATP-sensitive potassium (K(ATP)) channels that adjust membrane potential-dependent functions to match cellular energetic demand. Scanning of genomic DNA from individuals with heart failure and rhythm disturbances due to idiopathic dilated cardio...

journal_title：Nature genetics

authors： Bienengraeber M,Olson TM,Selivanov VA,Kathmann EC,O'Cochlain F,Gao F,Karger AB,Ballew JD,Hodgson DM,Zingman LV,Pang YP,Alekseev AE,Terzic A

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

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：:Familial hyperkalemic hypertension (FHHt) is a Mendelian form of arterial hypertension that is partially explained by mutations in WNK1 and WNK4 that lead to increased activity of the Na(+)-Cl(-) cotransporter (NCC) in the distal nephron. Using combined linkage analysis and whole-exome sequencing in two families, we i...

journal_title：Nature genetics

authors： Louis-Dit-Picard H,Barc J,Trujillano D,Miserey-Lenkei S,Bouatia-Naji N,Pylypenko O,Beaurain G,Bonnefond A,Sand O,Simian C,Vidal-Petiot E,Soukaseum C,Mandet C,Broux F,Chabre O,Delahousse M,Esnault V,Fiquet B,Houillier

更新日期：2012-03-11 00:00:00

abstract：:We describe a highly engineered in vivo cloning method, mating-assisted genetically integrated cloning (MAGIC), that facilitates the rapid construction of recombinant DNA molecules. MAGIC uses bacterial mating, in vivo site-specific endonuclease cleavage and homologous recombination to catalyze the transfer of a DNA f...

journal_title：Nature genetics

authors： Li MZ,Elledge SJ

更新日期：2005-03-01 00:00:00

abstract：:In the version of the article published, the author list is not accurate. Igor Cima and Min-Han Tan should have been authors, appearing after Mark Wong in the author list, while Paul Jongjoon Choi should not have been listed as an author. Igor Cima and Min-Han Tan both have the affiliation Institute of Bioengineering ...

journal_title：Nature genetics

authors： Li H,Courtois ET,Sengupta D,Tan Y,Chen KH,Goh JJL,Kong SL,Chua C,Hon LK,Tan WS,Wong M,Cima I,Tan MH,Wee LJK,Hillmer AM,Tan IB,Robson P,Prabhakar S

更新日期：2018-12-01 00:00:00

abstract：:Gene-environment associations are important in rheumatoid arthritis (RA) susceptibility, with an association existing between smoking, HLA- DRB1 'shared epitope' alleles, PTPN22 and antibodies to cyclic citrullinated peptides (CCP). Here, we test the hypothesis that a subset of the anti-CCP response, with specific aut...

journal_title：Nature genetics

authors： Mahdi H,Fisher BA,Källberg H,Plant D,Malmström V,Rönnelid J,Charles P,Ding B,Alfredsson L,Padyukov L,Symmons DP,Venables PJ,Klareskog L,Lundberg K

更新日期：2009-12-01 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

abstract：:A highly invasive form of non-typhoidal Salmonella (iNTS) disease has recently been documented in many countries in sub-Saharan Africa. The most common Salmonella enterica serovar causing this disease is Typhimurium (Salmonella Typhimurium). We applied whole-genome sequence-based phylogenetic methods to define the pop...

journal_title：Nature genetics

authors： Okoro CK,Kingsley RA,Connor TR,Harris SR,Parry CM,Al-Mashhadani MN,Kariuki S,Msefula CL,Gordon MA,de Pinna E,Wain J,Heyderman RS,Obaro S,Alonso PL,Mandomando I,MacLennan CA,Tapia MD,Levine MM,Tennant SM,Parkhill J,

更新日期：2012-11-01 00:00:00

abstract：:Genome-wide association studies (GWAS) have identified thousands of genetic variants associated with human complex traits. However, the genes or functional DNA elements through which these variants exert their effects on the traits are often unknown. We propose a method (called SMR) that integrates summary-level data ...

journal_title：Nature genetics

authors： Zhu Z,Zhang F,Hu H,Bakshi A,Robinson MR,Powell JE,Montgomery GW,Goddard ME,Wray NR,Visscher PM,Yang J

更新日期：2016-05-01 00:00:00

abstract：:The importance of individual microRNAs (miRNAs) has been established in specific cancers. However, a comprehensive analysis of the contribution of miRNAs to the pathogenesis of any specific cancer is lacking. Here we show that in T-cell acute lymphoblastic leukemia (T-ALL), a small set of miRNAs is responsible for the...

journal_title：Nature genetics

authors： Mavrakis KJ,Van Der Meulen J,Wolfe AL,Liu X,Mets E,Taghon T,Khan AA,Setty M,Rondou P,Vandenberghe P,Delabesse E,Benoit Y,Socci NB,Leslie CS,Van Vlierberghe P,Speleman F,Wendel HG

更新日期：2011-06-05 00:00:00

abstract：:We carried out whole-genome homozygosity mapping, gene expression analysis and DNA sequencing in individuals with isolated mitochondrial ATP synthase deficiency and identified disease-causing mutations in TMEM70. Complementation of the cell lines of these individuals with wild-type TMEM70 restored biogenesis and metab...

journal_title：Nature genetics

authors： Cízková A,Stránecký V,Mayr JA,Tesarová M,Havlícková V,Paul J,Ivánek R,Kuss AW,Hansíková H,Kaplanová V,Vrbacký M,Hartmannová H,Nosková L,Honzík T,Drahota Z,Magner M,Hejzlarová K,Sperl W,Zeman J,Houstek J,Kmoch S

更新日期：2008-11-01 00:00:00

abstract：:Targeting of cancer stem cells is believed to be essential for curative therapy of cancers, but supporting evidence is limited. Few selective target genes in cancer stem cells have been identified. Here we identify the arachidonate 5-lipoxygenase (5-LO) gene (Alox5) as a critical regulator for leukemia stem cells (LSC...

journal_title：Nature genetics

authors： Chen Y,Hu Y,Zhang H,Peng C,Li S

更新日期：2009-07-01 00:00:00

abstract：:Charcot-Marie-Tooth disease (CMT1) is the most common form of inherited peripheral neuropathy. Although the disease is genetically heterogeneous, it has been demonstrated that the gene defect is the most frequent type (CMT1A) is the result of a partial duplication of band 17p11.2. Recent studies suggested that the per...

journal_title：Nature genetics

authors： Timmerman V,Nelis E,Van Hul W,Nieuwenhuijsen BW,Chen KL,Wang S,Ben Othman K,Cullen B,Leach RJ,Hanemann CO

更新日期：1992-06-01 00:00:00

abstract：:The goal of the Complex Trait Consortium is to promote the development of resources that can be used to understand, treat and ultimately prevent pervasive human diseases. Existing and proposed mouse resources that are optimized to study the actions of isolated genetic loci on a fixed background are less effective for ...

journal_title：Nature genetics

authors： Churchill GA,Airey DC,Allayee H,Angel JM,Attie AD,Beatty J,Beavis WD,Belknap JK,Bennett B,Berrettini W,Bleich A,Bogue M,Broman KW,Buck KJ,Buckler E,Burmeister M,Chesler EJ,Cheverud JM,Clapcote S,Cook MN,Cox RD,C

更新日期：2004-11-01 00:00:00

abstract：:Recent research has uncovered an important role for de novo variation in neurodevelopmental disorders. Using aggregated data from 9,246 families with autism spectrum disorder, intellectual disability, or developmental delay, we found that ∼1/3 of de novo variants are independently present as standing variation in the ...

journal_title：Nature genetics

authors： Kosmicki JA,Samocha KE,Howrigan DP,Sanders SJ,Slowikowski K,Lek M,Karczewski KJ,Cutler DJ,Devlin B,Roeder K,Buxbaum JD,Neale BM,MacArthur DG,Wall DP,Robinson EB,Daly MJ

更新日期：2017-04-01 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

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