Mouse segmental duplication and copy number variation.

abstract：:The importance of commensal microbes for human health is increasingly recognized, yet the impacts of evolutionary changes in human diet and culture on commensal microbiota remain almost unknown. Two of the greatest dietary shifts in human evolution involved the adoption of carbohydrate-rich Neolithic (farming) diets (...

journal_title：Nature genetics

authors： Adler CJ,Dobney K,Weyrich LS,Kaidonis J,Walker AW,Haak W,Bradshaw CJ,Townsend G,Sołtysiak A,Alt KW,Parkhill J,Cooper A

更新日期：2013-04-01 00:00:00

abstract：:Hearing impairment is the most commonly occurring condition that affects the ability of humans to communicate. More than 50% of the cases of profound early-onset deafness are caused by genetic factors. Over 40 loci for non-syndromic deafness have been genetically mapped, and mutations in several genes have been shown ...

journal_title：Nature genetics

authors： Xia JH,Liu CY,Tang BS,Pan Q,Huang L,Dai HP,Zhang BR,Xie W,Hu DX,Zheng D,Shi XL,Wang DA,Xia K,Yu KP,Liao XD,Feng Y,Yang YF,Xiao JY,Xie DH,Huang JZ

更新日期：1998-12-01 00:00:00

abstract：:We identified association of restless legs syndrome (RLS) with PTPRD at 9p23-24 in 2,458 affected individuals and 4,749 controls from Germany, Austria, Czechia and Canada. Two independent SNPs in the 5' UTR of splice variants expressed predominantly in the central nervous system showed highly significant P values (rs4...

journal_title：Nature genetics

authors： Schormair B,Kemlink D,Roeske D,Eckstein G,Xiong L,Lichtner P,Ripke S,Trenkwalder C,Zimprich A,Stiasny-Kolster K,Oertel W,Bachmann CG,Paulus W,Högl B,Frauscher B,Gschliesser V,Poewe W,Peglau I,Vodicka P,Vávrová J,S

更新日期：2008-08-01 00:00:00

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

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

abstract：:Potato (Solanum tuberosum L.) is the most important tuber crop worldwide. Efforts are underway to transform the crop from a clonally propagated tetraploid into a seed-propagated, inbred-line-based hybrid, but this process requires a better understanding of potato genome. Here, we report the 1.67-Gb haplotype-resolved ...

journal_title：Nature genetics

authors： Zhou Q,Tang D,Huang W,Yang Z,Zhang Y,Hamilton JP,Visser RGF,Bachem CWB,Robin Buell C,Zhang Z,Zhang C,Huang S

更新日期：2020-10-01 00:00:00

abstract：:A genome-wide association screen for primary biliary cirrhosis risk alleles was performed in an Italian cohort. The results from the Italian cohort replicated IL12A and IL12RB associations, and a combined meta-analysis using a Canadian dataset identified newly associated loci at SPIB (P = 7.9 x 10(-11), odds ratio (OR...

journal_title：Nature genetics

authors： Liu X,Invernizzi P,Lu Y,Kosoy R,Lu Y,Bianchi I,Podda M,Xu C,Xie G,Macciardi F,Selmi C,Lupoli S,Shigeta R,Ransom M,Lleo A,Lee AT,Mason AL,Myers RP,Peltekian KM,Ghent CN,Bernuzzi F,Zuin M,Rosina F,Borghesio E

更新日期：2010-08-01 00:00:00

abstract：:Dilated cardiomyopathy (DCM) is a highly heterogeneous trait with sarcomeric gene mutations predominating. The cause of a substantial percentage of DCMs remains unknown, and no gene-specific therapy is available. On the basis of resequencing of 513 DCM cases and 1,150 matched controls from various cohorts of distinct ...

journal_title：Nature genetics

authors： Dhandapany PS,Razzaque MA,Muthusami U,Kunnoth S,Edwards JJ,Mulero-Navarro S,Riess I,Pardo S,Sheng J,Rani DS,Rani B,Govindaraj P,Flex E,Yokota T,Furutani M,Nishizawa T,Nakanishi T,Robbins J,Limongelli G,Hajjar RJ,L

更新日期：2014-06-01 00:00:00

abstract：:Angle-closure glaucoma (ACG) is a subset of glaucoma affecting 16 million people. Although 4 million people are bilaterally blind from ACG, the causative molecular mechanisms of ACG remain to be defined. High intraocular pressure induces glaucoma in ACG. High intraocular pressure traditionally was suggested to result ...

journal_title：Nature genetics

authors： Nair KS,Hmani-Aifa M,Ali Z,Kearney AL,Ben Salem S,Macalinao DG,Cosma IM,Bouassida W,Hakim B,Benzina Z,Soto I,Söderkvist P,Howell GR,Smith RS,Ayadi H,John SW

更新日期：2011-06-01 00:00:00

abstract：:Three new studies have identified new genes and sequence variants implicated in blood lipids, inflammatory markers, hemoglobin levels and adult height variation in Sardinia. These reports highlight the usefulness of large-scale genotype imputation based on whole-genome sequencing, particularly in isolated populations,...

journal_title：Nature genetics

authors： Lettre G,Hirschhorn JN

更新日期：2015-11-01 00:00:00

abstract：:Although nearly half of human melanomas harbor oncogenic BRAF(V600E) mutations, the genetic events that cooperate with these mutations to drive melanogenesis are still largely unknown. Here we show that Sleeping Beauty (SB) transposon-mediated mutagenesis drives melanoma progression in Braf(V600E) mutant mice and iden...

journal_title：Nature genetics

authors： Mann MB,Black MA,Jones DJ,Ward JM,Yew CC,Newberg JY,Dupuy AJ,Rust AG,Bosenberg MW,McMahon M,Print CG,Copeland NG,Jenkins NA

更新日期：2015-05-01 00:00:00

abstract：:Transcriptional silencing by CpG island methylation is a prevalent mechanism of tumor-suppressor gene suppression in cancers. Genetic experiments have defined the importance of the DNA methyltransferase Dnmt1 for the maintenance of methylation in mouse cells and its role in neoplasia. In human bladder cancer cells, se...

journal_title：Nature genetics

authors： Robert MF,Morin S,Beaulieu N,Gauthier F,Chute IC,Barsalou A,MacLeod AR

更新日期：2003-01-01 00:00:00

abstract：:Aggregate results from genome-wide association studies (GWAS), such as genotype frequencies for cases and controls, were until recently often made available on public websites because they were thought to disclose negligible information concerning an individual's participation in a study. Homer et al. recently suggest...

journal_title：Nature genetics

authors： Jacobs KB,Yeager M,Wacholder S,Craig D,Kraft P,Hunter DJ,Paschal J,Manolio TA,Tucker M,Hoover RN,Thomas GD,Chanock SJ,Chatterjee N

更新日期：2009-11-01 00:00:00

abstract：:Family, twin and adoption studies provide evidence for a substantial genetic component underlying individual differences in general intelligence, specific cognitive abilities and susceptibility to psychopathologies related to fear-inducing events. Contextual fear conditioning, which is highly conserved across species,...

journal_title：Nature genetics

authors： Wehner JM,Radcliffe RA,Rosmann ST,Christensen SC,Rasmussen DL,Fulker DW,Wiles M

更新日期：1997-11-01 00:00:00

abstract：:Influenza A virus is characterized by high genetic diversity. However, most of what is known about influenza evolution has come from consensus sequences sampled at the epidemiological scale that only represent the dominant virus lineage within each infected host. Less is known about the extent of within-host virus div...

journal_title：Nature genetics

authors： Poon LL,Song T,Rosenfeld R,Lin X,Rogers MB,Zhou B,Sebra R,Halpin RA,Guan Y,Twaddle A,DePasse JV,Stockwell TB,Wentworth DE,Holmes EC,Greenbaum B,Peiris JS,Cowling BJ,Ghedin E

更新日期：2016-02-01 00:00:00

abstract：:Perturbations to mammalian SWI/SNF (mSWI/SNF or BAF) complexes contribute to more than 20% of human cancers, with driving roles first identified in malignant rhabdoid tumor, an aggressive pediatric cancer characterized by biallelic inactivation of the core BAF complex subunit SMARCB1 (BAF47). However, the mechanism by...

journal_title：Nature genetics

authors： Nakayama RT,Pulice JL,Valencia AM,McBride MJ,McKenzie ZM,Gillespie MA,Ku WL,Teng M,Cui K,Williams RT,Cassel SH,Qing H,Widmer CJ,Demetri GD,Irizarry RA,Zhao K,Ranish JA,Kadoch C

更新日期：2017-11-01 00:00:00

abstract：:Grain yield is controlled by quantitative trait loci (QTLs) derived from natural variations in many crop plants. Here we report the molecular characterization of a major rice grain yield QTL that acts through the determination of panicle architecture. The dominant allele at the DEP1 locus is a gain-of-function mutatio...

journal_title：Nature genetics

authors： Huang X,Qian Q,Liu Z,Sun H,He S,Luo D,Xia G,Chu C,Li J,Fu X

更新日期：2009-04-01 00:00:00

abstract：:Characterization of the polycystic kidney disease 1 (PKD1) gene has been complicated by genomic rearrangements on chromosome 16. We have used an exon linking strategy, taking RNA from a cell line containing PKD1 but not the duplicate loci, to clone a cDNA contig of the entire transcript. The transcript consists of 14,...

journal_title：Nature genetics

authors： Hughes J,Ward CJ,Peral B,Aspinwall R,Clark K,San Millán JL,Gamble V,Harris PC

更新日期：1995-06-01 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：:Although dietary gluten is the trigger for celiac disease, risk is strongly influenced by genetic variation in the major histocompatibility complex (MHC) region. We fine mapped the MHC association signal to identify additional risk factors independent of the HLA-DQA1 and HLA-DQB1 alleles and observed five new associat...

journal_title：Nature genetics

authors： Gutierrez-Achury J,Zhernakova A,Pulit SL,Trynka G,Hunt KA,Romanos J,Raychaudhuri S,van Heel DA,Wijmenga C,de Bakker PI

更新日期：2015-06-01 00:00:00

abstract：:Translocation events are frequent in cancer and may create chimeric fusions or 'regulatory rearrangements' that drive oncogene overexpression. Here we identify super-enhancer translocations that drive overexpression of the oncogenic transcription factor MYB as a recurrent theme in adenoid cystic carcinoma (ACC). Whole...

journal_title：Nature genetics

authors： Drier Y,Cotton MJ,Williamson KE,Gillespie SM,Ryan RJ,Kluk MJ,Carey CD,Rodig SJ,Sholl LM,Afrogheh AH,Faquin WC,Queimado L,Qi J,Wick MJ,El-Naggar AK,Bradner JE,Moskaluk CA,Aster JC,Knoechel B,Bernstein BE

更新日期：2016-03-01 00:00:00

abstract：:Antimalarial drugs impose strong selective pressure on Plasmodium falciparum parasites and leave signatures of selection in the parasite genome; screening for genes under selection may suggest potential drug or immune targets. Genome-wide association studies (GWAS) of parasite traits have been hampered by the lack of ...

journal_title：Nature genetics

authors： Mu J,Myers RA,Jiang H,Liu S,Ricklefs S,Waisberg M,Chotivanich K,Wilairatana P,Krudsood S,White NJ,Udomsangpetch R,Cui L,Ho M,Ou F,Li H,Song J,Li G,Wang X,Seila S,Sokunthea S,Socheat D,Sturdevant DE,Porcella SF

更新日期：2010-03-01 00:00:00

abstract：:Height is a classic polygenic trait, reflecting the combined influence of multiple as-yet-undiscovered genetic factors. We carried out a meta-analysis of genome-wide association study data of height from 15,821 individuals at 2.2 million SNPs, and followed up the strongest findings in >10,000 subjects. Ten newly ident...

journal_title：Nature genetics

authors： Lettre G,Jackson AU,Gieger C,Schumacher FR,Berndt SI,Sanna S,Eyheramendy S,Voight BF,Butler JL,Guiducci C,Illig T,Hackett R,Heid IM,Jacobs KB,Lyssenko V,Uda M,Diabetes Genetics Initiative.,FUSION.,KORA.,Prostate, Lu

更新日期：2008-05-01 00:00:00

abstract：:The mitochondrial (mt) DNA depletion syndromes (MDDS) are genetic disorders characterized by a severe, tissue-specific decrease of mtDNA copy number, leading to organ failure. There are two main clinical presentations: myopathic (OMIM 609560) and hepatocerebral (OMIM 251880). Known mutant genes, including TK2, SUCLA2,...

journal_title：Nature genetics

authors： Spinazzola A,Viscomi C,Fernandez-Vizarra E,Carrara F,D'Adamo P,Calvo S,Marsano RM,Donnini C,Weiher H,Strisciuglio P,Parini R,Sarzi E,Chan A,DiMauro S,Rötig A,Gasparini P,Ferrero I,Mootha VK,Tiranti V,Zeviani M

更新日期：2006-05-01 00:00:00

abstract：:A major obstacle to stem-cell gene therapy rests in the inability to deliver a gene into a therapeutically relevant fraction of stem cells. One way to circumvent this obstacle is to use selection. Vectors containing two linked genes serve as the basis for selection, with one gene encoding a selectable product and the ...

journal_title：Nature genetics

authors： Jin L,Zeng H,Chien S,Otto KG,Richard RE,Emery DW,Blau CA

更新日期：2000-09-01 00:00:00

abstract：:Paired box (PAX) genes play a critical role in human development and disease. The PAX2 gene is expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system. We have conducted a mutational analysis of PAX2 in a family with optic nerve colobomas, renal hypoplasia, mild proteinuria and vesicour...

journal_title：Nature genetics

authors： Sanyanusin P,Schimmenti LA,McNoe LA,Ward TA,Pierpont ME,Sullivan MJ,Dobyns WB,Eccles MR

更新日期：1995-04-01 00:00:00

abstract：:To identify genetic markers for laryngeal squamous cell carcinoma (LSCC), we conducted a genome-wide association study (GWAS) on 993 individuals with LSCC (cases) and 1,995 cancer-free controls from Chinese populations. The most promising variants (association P < 1 × 10(-5)) were then replicated in 3 independent sets...

journal_title：Nature genetics

authors： Wei Q,Yu D,Liu M,Wang M,Zhao M,Liu M,Jia W,Ma H,Fang J,Xu W,Chen K,Xu Z,Wang J,Tian L,Yuan H,Chang J,Hu Z,Wei L,Huang Y,Han Y,Liu J,Han D,Shen H,Yang S,Zheng H,Ji Q,Li D,Tan W,Wu C,Lin D

更新日期：2014-10-01 00:00:00

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

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

abstract：:DNA methylation loss occurs frequently in cancer genomes, primarily within lamina-associated, late-replicating regions termed partially methylated domains (PMDs). We profiled 39 diverse primary tumors and 8 matched adjacent tissues using whole-genome bisulfite sequencing (WGBS) and analyzed them alongside 343 addition...

journal_title：Nature genetics

authors： Zhou W,Dinh HQ,Ramjan Z,Weisenberger DJ,Nicolet CM,Shen H,Laird PW,Berman BP

更新日期：2018-04-01 00:00:00

abstract：:The overgrowth- and tumor-associated Beckwith-Wiedemann syndrome results from dysregulation of imprinted genes on chromosome 11p15.5. Here we show that inherited microdeletions in the H19 differentially methylated region (DMR) that abolish two CTCF target sites cause this disease. Maternal transmission of the deletion...

journal_title：Nature genetics

authors： Sparago A,Cerrato F,Vernucci M,Ferrero GB,Silengo MC,Riccio A

更新日期：2004-09-01 00:00:00

abstract：:Autosomal dominant optic atrophy (ADOA) is the most prevalent hereditary optic neuropathy resulting in progressive loss of visual acuity, centrocoecal scotoma and bilateral temporal atrophy of the optic nerve with an onset within the first two decades of life. The predominant locus for this disorder (OPA1; MIM 165500)...

journal_title：Nature genetics

authors： Alexander C,Votruba M,Pesch UE,Thiselton DL,Mayer S,Moore A,Rodriguez M,Kellner U,Leo-Kottler B,Auburger G,Bhattacharya SS,Wissinger B

更新日期：2000-10-01 00:00:00