Cystatin C inhibits amyloid-beta deposition in Alzheimer's disease mouse models.

abstract：:Co-evolution between host and pathogen is, in principle, a powerful determinant of the biology and genetics of infection and disease. Yet co-evolution has proven difficult to demonstrate rigorously in practice, and co-evolutionary thinking is only just beginning to inform medical or veterinary research in any meaningf...

journal_title：Nature genetics

authors： Woolhouse ME,Webster JP,Domingo E,Charlesworth B,Levin BR

更新日期：2002-12-01 00:00:00

abstract：:A single microarray can provide information on the expression of tens of thousands of genes. The amount of information generated by a microarray-based experiment is sufficiently large that no single study can be expected to mine each nugget of scientific information. As a consequence, the scale and complexity of micro...

journal_title：Nature genetics

authors： Stoeckert CJ Jr,Causton HC,Ball CA

更新日期：2002-12-01 00:00:00

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

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

更新日期：1994-06-01 00:00:00

abstract：:The morphogenesis of the brain and the differentiation of the neural structures are highly complex processes. A series of temporally and spatially regulated morphogenetic events gives rise to smaller areas that are phylogenetically, functionally and often morphogenetically different. Candidate genes for positional inf...

journal_title：Nature genetics

authors： Acampora D,Mazan S,Avantaggiato V,Barone P,Tuorto F,Lallemand Y,Brûlet P,Simeone A

更新日期：1996-10-01 00:00:00

abstract：:The mutator hypothesis of tumorigenesis suggests that loss of chromosomal stability or maintenance functions results in elevated mutation rates, leading to the accumulation of the numerous mutations required for multistep carcinogenesis. The human DNA mismatch repair (MMR) genes are highly conserved homologues of the ...

journal_title：Nature genetics

authors： Cranston A,Bocker T,Reitmair A,Palazzo J,Wilson T,Mak T,Fishel R

更新日期：1997-09-01 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：: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：:Regulatory variants are often context specific, modulating gene expression in a subset of possible cellular states. Although these genetic effects can play important roles in disease, the molecular mechanisms underlying context specificity are poorly understood. Here, we identified shared quantitative trait loci (QTLs...

journal_title：Nature genetics

authors： Alasoo K,Rodrigues J,Mukhopadhyay S,Knights AJ,Mann AL,Kundu K,HIPSCI Consortium.,Hale C,Dougan G,Gaffney DJ

更新日期：2018-03-01 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：:We defined the genetic landscape of balanced chromosomal rearrangements at nucleotide resolution by sequencing 141 breakpoints from cytogenetically interpreted translocations and inversions. We confirm that the recently described phenomenon of 'chromothripsis' (massive chromosomal shattering and reorganization) is not...

journal_title：Nature genetics

authors： Chiang C,Jacobsen JC,Ernst C,Hanscom C,Heilbut A,Blumenthal I,Mills RE,Kirby A,Lindgren AM,Rudiger SR,McLaughlan CJ,Bawden CS,Reid SJ,Faull RL,Snell RG,Hall IM,Shen Y,Ohsumi TK,Borowsky ML,Daly MJ,Lee C,Morton C

更新日期：2012-03-04 00:00:00

abstract：:Epileptic disorders affect about 20-40 million people worldwide, and 40% of these are idiopathic generalized epilepsies (IGEs; ref. 1). Most of the IGEs that are inherited are complex, multigenic diseases. To address basic mechanisms for epilepsies, we have focused on one well-defined class of IGEs with an autosomal-d...

journal_title：Nature genetics

authors： Charlier C,Singh NA,Ryan SG,Lewis TB,Reus BE,Leach RJ,Leppert M

更新日期：1998-01-01 00:00:00

abstract：:Obesity is globally prevalent and highly heritable, but its underlying genetic factors remain largely elusive. To identify genetic loci for obesity susceptibility, we examined associations between body mass index and ∼ 2.8 million SNPs in up to 123,865 individuals with targeted follow up of 42 SNPs in up to 125,931 ad...

journal_title：Nature genetics

authors： Speliotes EK,Willer CJ,Berndt SI,Monda KL,Thorleifsson G,Jackson AU,Lango Allen H,Lindgren CM,Luan J,Mägi R,Randall JC,Vedantam S,Winkler TW,Qi L,Workalemahu T,Heid IM,Steinthorsdottir V,Stringham HM,Weedon MN,Wheel

更新日期：2010-11-01 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：:Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of elbows and Achilles tendons, slowly progressive muscle wasting and weakness, and a cardiomyopathy with conduction blocks which is life-threatening. Two modes of inheritance exist, X-linked (OMIM 310300) and autosomal dominant (EDMD-AD; ...

journal_title：Nature genetics

authors： Bonne G,Di Barletta MR,Varnous S,Bécane HM,Hammouda EH,Merlini L,Muntoni F,Greenberg CR,Gary F,Urtizberea JA,Duboc D,Fardeau M,Toniolo D,Schwartz K

更新日期：1999-03-01 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：:We have genetically retrieved, resurrected and performed detailed structure-function analyses on authentic woolly mammoth hemoglobin to reveal for the first time both the evolutionary origins and the structural underpinnings of a key adaptive physiochemical trait in an extinct species. Hemoglobin binds and carries O(2...

journal_title：Nature genetics

authors： Campbell KL,Roberts JE,Watson LN,Stetefeld J,Sloan AM,Signore AV,Howatt JW,Tame JR,Rohland N,Shen TJ,Austin JJ,Hofreiter M,Ho C,Weber RE,Cooper A

更新日期：2010-06-01 00:00:00

abstract：:To further resolve the genetic architecture of the inflammatory bowel diseases ulcerative colitis and Crohn's disease, we sequenced the whole genomes of 4,280 patients at low coverage and compared them to 3,652 previously sequenced population controls across 73.5 million variants. We then imputed from these sequences ...

journal_title：Nature genetics

authors： Luo Y,de Lange KM,Jostins L,Moutsianas L,Randall J,Kennedy NA,Lamb CA,McCarthy S,Ahmad T,Edwards C,Serra EG,Hart A,Hawkey C,Mansfield JC,Mowat C,Newman WG,Nichols S,Pollard M,Satsangi J,Simmons A,Tremelling M,Uh

更新日期：2017-02-01 00:00:00

abstract：:New genetic data has enabled scientists to re-examine the relationship between human genetic variation and 'race'. We review the results of genetic analyses that show that human genetic variation is geographically structured, in accord with historical patterns of gene flow and genetic drift. Analysis of many loci now ...

journal_title：Nature genetics

authors： Jorde LB,Wooding SP

更新日期：2004-11-01 00:00:00

abstract：:Massively parallel sequencing technologies have identified a broad spectrum of human genome diversity. Here we deep sequenced and correlated 18 genomes and 17 transcriptomes of unrelated Korean individuals. This has allowed us to construct a genome-wide map of common and rare variants and also identify variants formed...

journal_title：Nature genetics

authors： Ju YS,Kim JI,Kim S,Hong D,Park H,Shin JY,Lee S,Lee WC,Kim S,Yu SB,Park SS,Seo SH,Yun JY,Kim HJ,Lee DS,Yavartanoo M,Kang HP,Gokcumen O,Govindaraju DR,Jung JH,Chong H,Yang KS,Kim H,Lee C,Seo JS

更新日期：2011-07-03 00:00:00

abstract：:Schwannomas are common peripheral nerve sheath tumors that can cause debilitating morbidities. We performed an integrative analysis to determine genomic aberrations common to sporadic schwannomas. Exome sequence analysis with validation by targeted DNA sequencing of 125 samples uncovered, in addition to expected NF2 d...

journal_title：Nature genetics

authors： Agnihotri S,Jalali S,Wilson MR,Danesh A,Li M,Klironomos G,Krieger JR,Mansouri A,Khan O,Mamatjan Y,Landon-Brace N,Tung T,Dowar M,Li T,Bruce JP,Burrell KE,Tonge PD,Alamsahebpour A,Krischek B,Agarwalla PK,Bi WL,Dun

更新日期：2016-11-01 00:00:00

abstract：:We performed a meta-analysis of 14 genome-wide association studies of coronary artery disease (CAD) comprising 22,233 individuals with CAD (cases) and 64,762 controls of European descent followed by genotyping of top association signals in 56,682 additional individuals. This analysis identified 13 loci newly associate...

journal_title：Nature genetics

authors： Schunkert H,König IR,Kathiresan S,Reilly MP,Assimes TL,Holm H,Preuss M,Stewart AF,Barbalic M,Gieger C,Absher D,Aherrahrou Z,Allayee H,Altshuler D,Anand SS,Andersen K,Anderson JL,Ardissino D,Ball SG,Balmforth AJ,Ba

更新日期：2011-03-06 00:00:00

abstract：:The human gut microbiome plays a key role in human health 1 , but 16S characterization lacks quantitative functional annotation 2 . The fecal metabolome provides a functional readout of microbial activity and can be used as an intermediate phenotype mediating host-microbiome interactions 3 . In this comprehensive desc...

journal_title：Nature genetics

authors： Zierer J,Jackson MA,Kastenmüller G,Mangino M,Long T,Telenti A,Mohney RP,Small KS,Bell JT,Steves CJ,Valdes AM,Spector TD,Menni C

更新日期：2018-06-01 00:00:00

abstract：:Binary polymorphisms associated with the non-recombining region of the human Y chromosome (NRY) preserve the paternal genetic legacy of our species that has persisted to the present, permitting inference of human evolution, population affinity and demographic history. We used denaturing high-performance liquid chromat...

journal_title：Nature genetics

authors： Underhill PA,Shen P,Lin AA,Jin L,Passarino G,Yang WH,Kauffman E,Bonné-Tamir B,Bertranpetit J,Francalacci P,Ibrahim M,Jenkins T,Kidd JR,Mehdi SQ,Seielstad MT,Wells RS,Piazza A,Davis RW,Feldman MW,Cavalli-Sforza LL,

更新日期：2000-11-01 00:00:00

abstract：:Here we ask the question "How much information do epigenomic datasets provide about human genomic function?" We consider nine epigenomic features across 115 cell types and measure information about function as a reduction in entropy under a probabilistic evolutionary model fitted to human and nonhuman primate genomes....

journal_title：Nature genetics

authors： Gulko B,Siepel A

更新日期：2019-02-01 00:00:00

abstract：:Novel approaches to the structural and functional analysis of mammalian chromosomes would be possible if the gross structure of the chromosomes in living cells could be engineered. Controlled modifications can be engineered by conventional targeting techniques based on homologous recombination. Large but uncontrolled ...

journal_title：Nature genetics

authors： Itzhaki JE,Barnett MA,MacCarthy AB,Buckle VJ,Brown WR,Porter AC

更新日期：1992-12-01 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：:Tumor mutational burden correlates with response to immune checkpoint blockade in multiple solid tumors, although in microsatellite-stable tumors this association is of uncertain clinical utility. Here we uniformly analyzed whole-exome sequencing (WES) of 249 tumors and matched normal tissue from patients with clinica...

journal_title：Nature genetics

authors： Miao D,Margolis CA,Vokes NI,Liu D,Taylor-Weiner A,Wankowicz SM,Adeegbe D,Keliher D,Schilling B,Tracy A,Manos M,Chau NG,Hanna GJ,Polak P,Rodig SJ,Signoretti S,Sholl LM,Engelman JA,Getz G,Jänne PA,Haddad RI,Chouei

更新日期：2018-09-01 00:00:00

abstract：:The pathogenesis of Bacillus anthracis, the bacterium that causes anthrax, depends on secretion of three factors that combine to form two bipartite toxins. Edema toxin, consisting of protective antigen (PA) and edema factor (EF), causes the edema associated with cutaneous anthrax infections, whereas lethal toxin (LeTx...

journal_title：Nature genetics

authors： Boyden ED,Dietrich WF

更新日期：2006-02-01 00:00:00

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

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

abstract：:Genetic recombination is a major force driving the evolution of many viruses. Recombination between two copackaged retroviral genomes may occur at rates as high as 40% per replication cycle. This enables genetic information to be shuffled rapidly, leading to recombinants with new patterns of mutations and phenotypes. ...

journal_title：Nature genetics

authors： Soong NW,Nomura L,Pekrun K,Reed M,Sheppard L,Dawes G,Stemmer WP

更新日期：2000-08-01 00:00:00