The molecular basis of the human serum paraoxonase activity polymorphism.

abstract：:The lifespan of Caenorhabditis elegans is regulated by the insulin/insulin-like growth factor (IGF)-1 receptor homolog DAF-2, which signals through a conserved phosphatidylinositol 3-kinase (PI 3-kinase)/Akt pathway. Mutants in this pathway remain youthful and active much longer than normal animals and can live more t...

journal_title：Nature genetics

authors： Lin K,Hsin H,Libina N,Kenyon C

更新日期：2001-06-01 00:00:00

abstract：:Cervical carcinoma is now known to be associated with human papillomaviruses (HPV), but the evidence for a link with specific HLA loci is controversial. The role of genetic variation at the HLA class II loci and among HPV types in cervical carcinoma was investigated by PCR DNA amplification and oligonucleotide probe t...

journal_title：Nature genetics

authors： Apple RJ,Erlich HA,Klitz W,Manos MM,Becker TM,Wheeler CM

更新日期：1994-02-01 00:00:00

abstract：:Normal mammalian development requires a diploid combination of both haploid parental genomes. Uniparental disomy for certain segments of specific chromosomes results in aberrant development or prenatal lethality, indicating that the parental genomes have undergone modifications during gametogenesis. These modification...

journal_title：Nature genetics

authors： Plass C,Shibata H,Kalcheva I,Mullins L,Kotelevtseva N,Mullins J,Kato R,Sasaki H,Hirotsune S,Okazaki Y,Held WA,Hayashizaki Y,Chapman VM

更新日期：1996-09-01 00:00:00

abstract：:Most errors that arise during DNA replication can be corrected by DNA polymerase proofreading or by post-replication mismatch repair (MMR). Inactivation of both mutation-avoidance systems results in extremely high mutability that can lead to error catastrophe. High mutability and the likelihood of cancer can be caused...

journal_title：Nature genetics

authors： Jin YH,Clark AB,Slebos RJ,Al-Refai H,Taylor JA,Kunkel TA,Resnick MA,Gordenin DA

更新日期：2003-07-01 00:00:00

abstract：:Epilepsy affects at least 2% of the population at some time in their lives. The epilepsies are a heterogeneous group of disorders, many with an inherited component. Although specific genes have been identified in a few rare diseases causing seizures as part of a more diffuse brain disorder, the molecular pathology of ...

journal_title：Nature genetics

authors： Steinlein OK,Mulley JC,Propping P,Wallace RH,Phillips HA,Sutherland GR,Scheffer IE,Berkovic SF

更新日期：1995-10-01 00:00:00

abstract：:An earlier search in the human, mouse and rat genomes for sequences that are 100% conserved in orthologous segments and > or = 200 bp in length identified 481 distinct sequences. These human-mouse-rat sequences, which represent ultraconserved elements (UCEs), are believed to be important for functions involving DNA bi...

journal_title：Nature genetics

authors： Derti A,Roth FP,Church GM,Wu CT

更新日期：2006-10-01 00:00:00

abstract：:To shed light on the peopling of South Asia and the origins of the morphological adaptations found there, we analyzed whole-genome sequences from 10 Andamanese individuals and compared them with sequences for 60 individuals from mainland Indian populations with different ethnic histories and with publicly available da...

journal_title：Nature genetics

authors： Mondal M,Casals F,Xu T,Dall'Olio GM,Pybus M,Netea MG,Comas D,Laayouni H,Li Q,Majumder PP,Bertranpetit J

更新日期：2016-09-01 00:00:00

abstract：:Bardet-Biedl syndrome (BBS, MIM 209900) is a heterogeneous autosomal recessive disorder characterized by obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation, and hypogenitalism. The disorder is also associated with diabetes mellitus, hypertension, and congenital heart disease. Six dis...

journal_title：Nature genetics

authors： Mykytyn K,Braun T,Carmi R,Haider NB,Searby CC,Shastri M,Beck G,Wright AF,Iannaccone A,Elbedour K,Riise R,Baldi A,Raas-Rothschild A,Gorman SW,Duhl DM,Jacobson SG,Casavant T,Stone EM,Sheffield VC

更新日期：2001-06-01 00:00:00

abstract：:The Cancer Genome Atlas Pan-Cancer Analysis Working Group collaborated on the Synapse software platform to share and evolve data, results and methodologies while performing integrative analysis of molecular profiling data from 12 tumor types. The group's work serves as a pilot case study that provides (i) a template f...

journal_title：Nature genetics

authors： Omberg L,Ellrott K,Yuan Y,Kandoth C,Wong C,Kellen MR,Friend SH,Stuart J,Liang H,Margolin AA

更新日期：2013-10-01 00:00:00

abstract：:Hypertriglyceridemia is a hallmark of many disorders, including metabolic syndrome, diabetes, atherosclerosis and obesity. A well-known cause is the deficiency of lipoprotein lipase (LPL), a key enzyme in plasma triglyceride hydrolysis. Mice carrying the combined lipase deficiency (cld) mutation show severe hypertrigl...

journal_title：Nature genetics

authors： Péterfy M,Ben-Zeev O,Mao HZ,Weissglas-Volkov D,Aouizerat BE,Pullinger CR,Frost PH,Kane JP,Malloy MJ,Reue K,Pajukanta P,Doolittle MH

更新日期：2007-12-01 00:00:00

abstract：:By imposing a limit on the proliferative lifespan of most somatic cells, telomere erosion represents an innate mechanism for tumor suppression and may contribute to age-related disease. A detailed understanding of the pathways that link shortened telomeres to replicative senescence has been severely hindered by the in...

journal_title：Nature genetics

authors： Baird DM,Rowson J,Wynford-Thomas D,Kipling D

更新日期：2003-02-01 00:00:00

abstract：:Animal development is an extremely robust process resulting in stereotyped outcomes. Canalization is a design principle wherein developmental pathways are stabilized to increase phenotypic reproducibility. Recent revelations into microRNA (miRNA) function suggest that miRNAs act as key players in canalizing genetic pr...

journal_title：Nature genetics

authors： Hornstein E,Shomron N

更新日期：2006-06-01 00:00:00

abstract：:Aniridia is an inherited ocular disorder of variable expressivity characterized by iris hypoplasia. A candidate aniridia gene, AN, which is the human homologue of the mouse Pax-6 gene, has recently been isolated by positional cloning from the WAGR region of 11p13. Here we describe mutations in this gene in two cases o...

journal_title：Nature genetics

authors： Jordan T,Hanson I,Zaletayev D,Hodgson S,Prosser J,Seawright A,Hastie N,van Heyningen V

更新日期：1992-08-01 00:00:00

abstract：:Protein tyrosine phosphorylation plays a key role in regulating eukaryotic cell proliferation and differentiation. Genetic analysis in invertebrates has been invaluable for dissecting the signalling events downstream of receptor tyrosine kinases (RTKs). We have used this approach in mammals to analyse the interactions...

journal_title：Nature genetics

authors： Paulson RF,Vesely S,Siminovitch KA,Bernstein A

更新日期：1996-07-01 00:00:00

abstract：:The shift from outcrossing to selfing is common in flowering plants, but the genomic consequences and the speed at which they emerge remain poorly understood. An excellent model for understanding the evolution of self fertilization is provided by Capsella rubella, which became self compatible <200,000 years ago. We re...

journal_title：Nature genetics

authors： Slotte T,Hazzouri KM,Ågren JA,Koenig D,Maumus F,Guo YL,Steige K,Platts AE,Escobar JS,Newman LK,Wang W,Mandáková T,Vello E,Smith LM,Henz SR,Steffen J,Takuno S,Brandvain Y,Coop G,Andolfatto P,Hu TT,Blanchette M,

更新日期：2013-07-01 00:00:00

abstract：:A polymorphic CAG repeat was identified in the human alpha 1A voltage-dependent calcium channel subunit. To test the hypothesis that expansion of this CAG repeat could be the cause of an inherited progressive ataxia, we genotyped a large number of unrelated controls and ataxia patients. Eight unrelated patients with l...

journal_title：Nature genetics

authors： Zhuchenko O,Bailey J,Bonnen P,Ashizawa T,Stockton DW,Amos C,Dobyns WB,Subramony SH,Zoghbi HY,Lee CC

更新日期：1997-01-01 00:00:00

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：:Many genes associated with CpG islands undergo de novo methylation in cancer. Studies have suggested that the pattern of this modification may be partially determined by an instructive mechanism that recognizes specifically marked regions of the genome. Using chromatin immunoprecipitation analysis, here we show that g...

journal_title：Nature genetics

authors： Schlesinger Y,Straussman R,Keshet I,Farkash S,Hecht M,Zimmerman J,Eden E,Yakhini Z,Ben-Shushan E,Reubinoff BE,Bergman Y,Simon I,Cedar H

更新日期：2007-02-01 00:00:00

abstract：:Notch and the m9/10 gene (groucho) of the Enhancer of split (E(spI)) complex are members of the "Notch group" of genes, which is required for a variety of cell fate choices in Drosophila. We have characterized human cDNA clones encoding a family of proteins, designated TLE, that are homologous to the E(spI) m9/10 gene...

journal_title：Nature genetics

authors： Stifani S,Blaumueller CM,Redhead NJ,Hill RE,Artavanis-Tsakonas S

更新日期：1992-10-01 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：: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：:Pioneer transcription factors establish new cell-fate competence by triggering chromatin remodeling. However, many features of pioneer action, such as their kinetics and stability, remain poorly defined. Here, we show that Pax7, by opening a unique repertoire of enhancers, is necessary and sufficient for specification...

journal_title：Nature genetics

authors： Mayran A,Khetchoumian K,Hariri F,Pastinen T,Gauthier Y,Balsalobre A,Drouin J

更新日期：2018-02-01 00:00:00

abstract：:To investigate the role of type X collagen in skeletal development, we have generated type X collagen-null mice. Surprisingly, mice without type X collagen were viable and fertile and had no gross abnormalities in long bone growth or development. No differences were detected between the type X collagen-null mice and c...

journal_title：Nature genetics

authors： Rosati R,Horan GS,Pinero GJ,Garofalo S,Keene DR,Horton WA,Vuorio E,de Crombrugghe B,Behringer RR

更新日期：1994-10-01 00:00:00

abstract：:We took advantage of overlapping interstitial deletions at chromosome 8p11-p12 in two individuals with contiguous gene syndromes and defined an interval of roughly 540 kb associated with a dominant form of Kallmann syndrome, KAL2. We establish here that loss-of-function mutations in FGFR1 underlie KAL2 whereas a gain-...

journal_title：Nature genetics

authors： Dodé C,Levilliers J,Dupont JM,De Paepe A,Le Dû N,Soussi-Yanicostas N,Coimbra RS,Delmaghani S,Compain-Nouaille S,Baverel F,Pêcheux C,Le Tessier D,Cruaud C,Delpech M,Speleman F,Vermeulen S,Amalfitano A,Bachelot Y,Boucha

更新日期：2003-04-01 00:00:00

abstract：:Gains and losses in DNA methylation are prominent features of mammalian cell types. To gain insight into the mechanisms that promote shifts in DNA methylation and contribute to changes in cell fate, including malignant transformation, we performed genome-wide mapping of 5-methylcytosine and 5-hydroxymethylcytosine in ...

journal_title：Nature genetics

authors： Jeong M,Sun D,Luo M,Huang Y,Challen GA,Rodriguez B,Zhang X,Chavez L,Wang H,Hannah R,Kim SB,Yang L,Ko M,Chen R,Göttgens B,Lee JS,Gunaratne P,Godley LA,Darlington GJ,Rao A,Li W,Goodell MA

更新日期：2014-01-01 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：: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

abstract：:Genome-wide association studies (GWAS) have identified ten loci harboring common variants that influence risk of developing colorectal cancer (CRC). To enhance the power to identify additional CRC risk loci, we conducted a meta-analysis of three GWAS from the UK which included a total of 3,334 affected individuals (ca...

journal_title：Nature genetics

authors： Houlston RS,Cheadle J,Dobbins SE,Tenesa A,Jones AM,Howarth K,Spain SL,Broderick P,Domingo E,Farrington S,Prendergast JG,Pittman AM,Theodoratou E,Smith CG,Olver B,Walther A,Barnetson RA,Churchman M,Jaeger EE,Penegar

更新日期：2010-11-01 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：: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