听力与言语-语言病理学

行为科学

医学伦理学

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  • Genome-wide meta-analyses identify multiple loci associated with smoking behavior.

    abstract::Consistent but indirect evidence has implicated genetic factors in smoking behavior. We report meta-analyses of several smoking phenotypes within cohorts of the Tobacco and Genetics Consortium (n = 74,053). We also partnered with the European Network of Genetic and Genomic Epidemiology (ENGAGE) and Oxford-GlaxoSmithKl...

    journal_title:Nature genetics

    pub_type: 杂志文章,meta分析

    doi:10.1038/ng.571

    authors: Tobacco and Genetics Consortium.

    更新日期:2010-05-01 00:00:00

  • Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight.

    abstract::To identify genetic variants associated with birth weight, we meta-analyzed six genome-wide association (GWA) studies (n = 10,623 Europeans from pregnancy/birth cohorts) and followed up two lead signals in 13 replication studies (n = 27,591). rs900400 near LEKR1 and CCNL1 (P = 2 x 10(-35)) and rs9883204 in ADCY5 (P = ...

    journal_title:Nature genetics

    pub_type: 杂志文章,meta分析

    doi:10.1038/ng.567

    authors: Freathy RM,Mook-Kanamori DO,Sovio U,Prokopenko I,Timpson NJ,Berry DJ,Warrington NM,Widen E,Hottenga JJ,Kaakinen M,Lange LA,Bradfield JP,Kerkhof M,Marsh JA,Mägi R,Chen CM,Lyon HN,Kirin M,Adair LS,Aulchenko YS,Benne

    更新日期:2010-05-01 00:00:00

  • Conventional wisdom.

    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

    pub_type: 社论

    doi:10.1038/ng0510-363

    authors:

    更新日期:2010-05-01 00:00:00

  • PHF6 mutations in T-cell acute lymphoblastic leukemia.

    abstract::Tumor suppressor genes on the X chromosome may skew the gender distribution of specific types of cancer. T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive hematological malignancy with an increased incidence in males. In this study, we report the identification of inactivating mutations and deletions in the...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.542

    authors: Van Vlierberghe P,Palomero T,Khiabanian H,Van der Meulen J,Castillo M,Van Roy N,De Moerloose B,Philippé J,González-García S,Toribio ML,Taghon T,Zuurbier L,Cauwelier B,Harrison CJ,Schwab C,Pisecker M,Strehl S,Langerak AW

    更新日期:2010-04-01 00:00:00

  • Identification of DOK genes as lung tumor suppressors.

    abstract::Genome-wide analyses of human lung adenocarcinoma have identified regions of consistent copy-number gain or loss, but in many cases the oncogenes and tumor suppressors presumed to reside in these loci remain to be determined. Here we identify the downstream of tyrosine kinase (Dok) family members Dok1, Dok2 and Dok3 a...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.527

    authors: Berger AH,Niki M,Morotti A,Taylor BS,Socci ND,Viale A,Brennan C,Szoke J,Motoi N,Rothman PB,Teruya-Feldstein J,Gerald WL,Ladanyi M,Pandolfi PP

    更新日期:2010-03-01 00:00:00

  • Plasmodium falciparum genome-wide scans for positive selection, recombination hot spots and resistance to antimalarial drugs.

    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

    pub_type: 杂志文章

    doi:10.1038/ng.528

    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

  • Genome-wide association study of PR interval.

    abstract::The electrocardiographic PR interval (or PQ interval) reflects atrial and atrioventricular nodal conduction, disturbances of which increase risk of atrial fibrillation. We report a meta-analysis of genome-wide association studies for PR interval from seven population-based European studies in the CHARGE Consortium: AG...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.517

    authors: Pfeufer A,van Noord C,Marciante KD,Arking DE,Larson MG,Smith AV,Tarasov KV,Müller M,Sotoodehnia N,Sinner MF,Verwoert GC,Li M,Kao WH,Köttgen A,Coresh J,Bis JC,Psaty BM,Rice K,Rotter JI,Rivadeneira F,Hofman A,Kors

    更新日期:2010-02-01 00:00:00

  • Somatic mutations altering EZH2 (Tyr641) in follicular and diffuse large B-cell lymphomas of germinal-center origin.

    abstract::Follicular lymphoma (FL) and the GCB subtype of diffuse large B-cell lymphoma (DLBCL) derive from germinal center B cells. Targeted resequencing studies have revealed mutations in various genes encoding proteins in the NF-kappaB pathway that contribute to the activated B-cell (ABC) DLBCL subtype, but thus far few GCB-...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.518

    authors: Morin RD,Johnson NA,Severson TM,Mungall AJ,An J,Goya R,Paul JE,Boyle M,Woolcock BW,Kuchenbauer F,Yap D,Humphries RK,Griffith OL,Shah S,Zhu H,Kimbara M,Shashkin P,Charlot JF,Tcherpakov M,Corbett R,Tam A,Varhol R

    更新日期:2010-02-01 00:00:00

  • Somatic mutations of the Parkinson's disease-associated gene PARK2 in glioblastoma and other human malignancies.

    abstract::Mutation of the gene PARK2, which encodes an E3 ubiquitin ligase, is the most common cause of early-onset Parkinson's disease. In a search for multisite tumor suppressors, we identified PARK2 as a frequently targeted gene on chromosome 6q25.2-q27 in cancer. Here we describe inactivating somatic mutations and frequent ...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.491

    authors: Veeriah S,Taylor BS,Meng S,Fang F,Yilmaz E,Vivanco I,Janakiraman M,Schultz N,Hanrahan AJ,Pao W,Ladanyi M,Sander C,Heguy A,Holland EC,Paty PB,Mischel PS,Liau L,Cloughesy TF,Mellinghoff IK,Solit DB,Chan TA

    更新日期:2010-01-01 00:00:00

  • Wt1 is required for cardiovascular progenitor cell formation through transcriptional control of Snail and E-cadherin.

    abstract::The epicardial epithelial-mesenchymal transition (EMT) is hypothesized to generate cardiovascular progenitor cells that differentiate into various cell types, including coronary smooth muscle and endothelial cells, perivascular and cardiac interstitial fibroblasts and cardiomyocytes. Here we show that an epicardial-sp...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.494

    authors: Martínez-Estrada OM,Lettice LA,Essafi A,Guadix JA,Slight J,Velecela V,Hall E,Reichmann J,Devenney PS,Hohenstein P,Hosen N,Hill RE,Muñoz-Chapuli R,Hastie ND

    更新日期:2010-01-01 00:00:00

  • Specific interaction between genotype, smoking and autoimmunity to citrullinated alpha-enolase in the etiology of rheumatoid arthritis.

    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

    pub_type: 杂志文章

    doi:10.1038/ng.480

    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

  • A new statistic and its power to infer membership in a genome-wide association study using genotype frequencies.

    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

    pub_type: 杂志文章

    doi:10.1038/ng.455

    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

  • Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

    abstract::Measurements of erythrocytes within the blood are important clinical traits and can indicate various hematological disorders. We report here genome-wide association studies (GWAS) for six erythrocyte traits, including hemoglobin concentration (Hb), hematocrit (Hct), mean corpuscular volume (MCV), mean corpuscular hemo...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.466

    authors: Ganesh SK,Zakai NA,van Rooij FJ,Soranzo N,Smith AV,Nalls MA,Chen MH,Kottgen A,Glazer NL,Dehghan A,Kuhnel B,Aspelund T,Yang Q,Tanaka T,Jaffe A,Bis JC,Verwoert GC,Teumer A,Fox CS,Guralnik JM,Ehret GB,Rice K,Feli

    更新日期:2009-11-01 00:00:00

  • Polyhomeotic has a tumor suppressor activity mediated by repression of Notch signaling.

    abstract::Polycomb Group (PcG) proteins silence critical developmental genes and modulate cell proliferation. Using the Drosophila melanogaster eye as a model system, we show that cells with mutations in the gene locus (ph) that encodes the PcG protein Polyhomeotic (PH) overproliferate and lose both the ability to differentiate...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.414

    authors: Martinez AM,Schuettengruber B,Sakr S,Janic A,Gonzalez C,Cavalli G

    更新日期:2009-10-01 00:00:00

  • Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia.

    abstract::Genome-wide association studies have identified common variants that only partially explain the genetic risk for type 2 diabetes (T2D). Using genome-wide association data from 1,376 French individuals, we identified 16,360 SNPs nominally associated with T2D and studied these SNPs in an independent sample of 4,977 Fren...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.443

    authors: Rung J,Cauchi S,Albrechtsen A,Shen L,Rocheleau G,Cavalcanti-Proença C,Bacot F,Balkau B,Belisle A,Borch-Johnsen K,Charpentier G,Dina C,Durand E,Elliott P,Hadjadj S,Järvelin MR,Laitinen J,Lauritzen T,Marre M,Mazur A,

    更新日期:2009-10-01 00:00:00

  • Genomic privacy and limits of individual detection in a pool.

    abstract::Recent studies have demonstrated that statistical methods can be used to detect the presence of a single individual within a study group based on summary data reported from genome-wide association studies (GWAS). We present an analytical and empirical study of the statistical power of such methods. We thereby aim to p...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.436

    authors: Sankararaman S,Obozinski G,Jordan MI,Halperin E

    更新日期:2009-09-01 00:00:00

  • Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer.

    abstract::We conducted a genome-wide association study on 969 bladder cancer cases and 957 controls from Texas. For fast-track validation, we evaluated 60 SNPs in three additional US populations and validated the top SNP in nine European populations. A missense variant (rs2294008) in the PSCA gene showed consistent association ...

    journal_title:Nature genetics

    pub_type: 信件

    doi:10.1038/ng.421

    authors: Wu X,Ye Y,Kiemeney LA,Sulem P,Rafnar T,Matullo G,Seminara D,Yoshida T,Saeki N,Andrew AS,Dinney CP,Czerniak B,Zhang ZF,Kiltie AE,Bishop DT,Vineis P,Porru S,Buntinx F,Kellen E,Zeegers MP,Kumar R,Rudnai P,Gurzau

    更新日期:2009-09-01 00:00:00

  • Genetic variants at 6p21.33 are associated with susceptibility to follicular lymphoma.

    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

    pub_type: 杂志文章

    doi:10.1038/ng.419

    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

  • Loss of the Alox5 gene impairs leukemia stem cells and prevents chronic myeloid leukemia.

    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

    pub_type: 杂志文章

    doi:10.1038/ng.389

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

    更新日期:2009-07-01 00:00:00

  • Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.

    abstract::Type 1 diabetes (T1D) is a common autoimmune disorder that arises from the action of multiple genetic and environmental risk factors. We report the findings of a genome-wide association study of T1D, combined in a meta-analysis with two previously published studies. The total sample set included 7,514 cases and 9,045 ...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.381

    authors: Barrett JC,Clayton DG,Concannon P,Akolkar B,Cooper JD,Erlich HA,Julier C,Morahan G,Nerup J,Nierras C,Plagnol V,Pociot F,Schuilenburg H,Smyth DJ,Stevens H,Todd JA,Walker NM,Rich SS,Type 1 Diabetes Genetics Consortium.

    更新日期:2009-06-01 00:00:00

  • Meta-analysis of genome-wide association data identifies two loci influencing age at menarche.

    abstract::We conducted a meta-analysis of genome-wide association data to detect genes influencing age at menarche in 17,510 women. The strongest signal was at 9q31.2 (P = 1.7 × 10(-9)), where the nearest genes include TMEM38B, FKTN, FSD1L, TAL2 and ZNF462. The next best signal was near the LIN28B gene (rs7759938; P = 7.0 × 10(...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.386

    authors: Perry JR,Stolk L,Franceschini N,Lunetta KL,Zhai G,McArdle PF,Smith AV,Aspelund T,Bandinelli S,Boerwinkle E,Cherkas L,Eiriksdottir G,Estrada K,Ferrucci L,Folsom AR,Garcia M,Gudnason V,Hofman A,Karasik D,Kiel DP,Lau

    更新日期:2009-06-01 00:00:00

  • Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.

    abstract::Polymicrogyria is a relatively common but poorly understood defect of cortical development characterized by numerous small gyri and a thick disorganized cortical plate lacking normal lamination. Here we report de novo mutations in a beta-tubulin gene, TUBB2B, in four individuals and a 27-gestational-week fetus with bi...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.380

    authors: Jaglin XH,Poirier K,Saillour Y,Buhler E,Tian G,Bahi-Buisson N,Fallet-Bianco C,Phan-Dinh-Tuy F,Kong XP,Bomont P,Castelnau-Ptakhine L,Odent S,Loget P,Kossorotoff M,Snoeck I,Plessis G,Parent P,Beldjord C,Cardoso C,Repr

    更新日期:2009-06-01 00:00:00

  • A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).

    abstract::We conducted a three-stage genome-wide association study (GWAS) of breast cancer in 9,770 cases and 10,799 controls in the Cancer Genetic Markers of Susceptibility (CGEMS) initiative. In stage 1, we genotyped 528,173 SNPs in 1,145 cases of invasive breast cancer and 1,142 controls. In stage 2, we analyzed 24,909 top S...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.353

    authors: Thomas G,Jacobs KB,Kraft P,Yeager M,Wacholder S,Cox DG,Hankinson SE,Hutchinson A,Wang Z,Yu K,Chatterjee N,Garcia-Closas M,Gonzalez-Bosquet J,Prokunina-Olsson L,Orr N,Willett WC,Colditz GA,Ziegler RG,Berg CD,Buys SS

    更新日期:2009-05-01 00:00:00

  • Natural variation at the DEP1 locus enhances grain yield in rice.

    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

    pub_type: 杂志文章

    doi:10.1038/ng.352

    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

  • Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.

    abstract::Eosinophils are pleiotropic multifunctional leukocytes involved in initiation and propagation of inflammatory responses and thus have important roles in the pathogenesis of inflammatory diseases. Here we describe a genome-wide association scan for sequence variants affecting eosinophil counts in blood of 9,392 Iceland...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.323

    authors: Gudbjartsson DF,Bjornsdottir US,Halapi E,Helgadottir A,Sulem P,Jonsdottir GM,Thorleifsson G,Helgadottir H,Steinthorsdottir V,Stefansson H,Williams C,Hui J,Beilby J,Warrington NM,James A,Palmer LJ,Koppelman GH,Heinzmann

    更新日期:2009-03-01 00:00:00

  • Bridging high-throughput genetic and transcriptional data reveals cellular responses to alpha-synuclein toxicity.

    abstract::Cells respond to stimuli by changes in various processes, including signaling pathways and gene expression. Efforts to identify components of these responses increasingly depend on mRNA profiling and genetic library screens. By comparing the results of these two assays across various stimuli, we found that genetic scr...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.337

    authors: Yeger-Lotem E,Riva L,Su LJ,Gitler AD,Cashikar AG,King OD,Auluck PK,Geddie ML,Valastyan JS,Karger DR,Lindquist S,Fraenkel E

    更新日期:2009-03-01 00:00:00

  • Increased LIS1 expression affects human and mouse brain development.

    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

    pub_type: 杂志文章

    doi:10.1038/ng.302

    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

  • Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.

    abstract::Obesity results from the interaction of genetic and environmental factors. To search for sequence variants that affect variation in two common measures of obesity, weight and body mass index (BMI), both of which are highly heritable, we performed a genome-wide association (GWA) study with 305,846 SNPs typed in 25,344 ...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.274

    authors: Thorleifsson G,Walters GB,Gudbjartsson DF,Steinthorsdottir V,Sulem P,Helgadottir A,Styrkarsdottir U,Gretarsdottir S,Thorlacius S,Jonsdottir I,Jonsdottir T,Olafsdottir EJ,Olafsdottir GH,Jonsson T,Jonsson F,Borch-Johnsen K,

    更新日期:2009-01-01 00:00:00

  • Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.

    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

    pub_type: 杂志文章

    doi:10.1038/ng.271

    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

  • Accelerated genetic drift on chromosome X during the human dispersal out of Africa.

    abstract::Comparisons of chromosome X and the autosomes can illuminate differences in the histories of males and females as well as shed light on the forces of natural selection. We compared the patterns of variation in these parts of the genome using two datasets that we assembled for this study that are both genomic in scale....

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.303

    authors: Keinan A,Mullikin JC,Patterson N,Reich D

    更新日期:2009-01-01 00:00:00

  • Foxj1 transcription factors are master regulators of the motile ciliogenic program.

    abstract::Motile cilia induce fluid movement through their rhythmic beating activity. In mammals, the transcription factor Foxj1 has been implicated in motile cilia formation. Here we show that a zebrafish Foxj1 homolog, foxj1a, is a target of Hedgehog signaling in the floor plate. Loss of Foxj1a compromises the assembly of mot...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.263

    authors: Yu X,Ng CP,Habacher H,Roy S

    更新日期:2008-12-01 00:00:00

  • Lung cancer susceptibility locus at 5p15.33.

    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

    pub_type: 杂志文章

    doi:10.1038/ng.254

    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

  • Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.

    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

    pub_type: 杂志文章

    doi:10.1038/ng.279

    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

  • TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.

    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

    pub_type: 杂志文章

    doi:10.1038/ng.246

    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

  • Systematic assessment of copy number variant detection via genome-wide SNP genotyping.

    abstract::SNP genotyping has emerged as a technology to incorporate copy number variants (CNVs) into genetic analyses of human traits. However, the extent to which SNP platforms accurately capture CNVs remains unclear. Using independent, sequence-based CNV maps, we find that commonly used SNP platforms have limited or no probe ...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.236

    authors: Cooper GM,Zerr T,Kidd JM,Eichler EE,Nickerson DA

    更新日期:2008-10-01 00:00:00

  • Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.

    abstract::CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1 and regulates expression of genes involved in cortical development such as RELN. Here we describe a previously unreported X-linked brain malformation syndrome caused by mutations of CASK. All five affected individuals with CAS...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.194

    authors: Najm J,Horn D,Wimplinger I,Golden JA,Chizhikov VV,Sudi J,Christian SL,Ullmann R,Kuechler A,Haas CA,Flubacher A,Charnas LR,Uyanik G,Frank U,Klopocki E,Dobyns WB,Kutsche K

    更新日期:2008-09-01 00:00:00

  • PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome.

    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

    pub_type: 杂志文章

    doi:10.1038/ng.190

    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

  • Mouse segmental duplication and copy number variation.

    abstract::Detailed analyses of the clone-based genome assembly reveal that the recent duplication content of mouse (4.94%) is now comparable to that of human (5.5%), in contrast to previous estimates from the whole-genome shotgun sequence assembly. However, the architecture of mouse and human genomes differs markedly: most mous...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.172

    authors: She X,Cheng Z,Zöllner S,Church DM,Eichler EE

    更新日期:2008-07-01 00:00:00

  • Genetic variation in PSCA is associated with susceptibility to diffuse-type gastric cancer.

    abstract::Gastric cancer is classified into intestinal and diffuse types, the latter including a highly malignant form, linitis plastica. A two-stage genome-wide association study (stage 1: 85,576 SNPs on 188 cases and 752 references; stage 2: 2,753 SNPs on 749 cases and 750 controls) in Japan identified a significant associati...

    journal_title:Nature genetics

    pub_type: 杂志文章,多中心研究

    doi:10.1038/ng.152

    authors: Study Group of Millennium Genome Project for Cancer.,Sakamoto H,Yoshimura K,Saeki N,Katai H,Shimoda T,Matsuno Y,Saito D,Sugimura H,Tanioka F,Kato S,Matsukura N,Matsuda N,Nakamura T,Hyodo I,Nishina T,Yasui W,Hirose H,H

    更新日期:2008-06-01 00:00:00

  • Soluble epoxide hydrolase is a susceptibility factor for heart failure in a rat model of human disease.

    abstract::We aimed to identify genetic variants associated with heart failure by using a rat model of the human disease. We performed invasive cardiac hemodynamic measurements in F2 crosses between spontaneously hypertensive heart failure (SHHF) rats and reference strains. We combined linkage analyses with genome-wide expressio...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.129

    authors: Monti J,Fischer J,Paskas S,Heinig M,Schulz H,Gösele C,Heuser A,Fischer R,Schmidt C,Schirdewan A,Gross V,Hummel O,Maatz H,Patone G,Saar K,Vingron M,Weldon SM,Lindpaintner K,Hammock BD,Rohde K,Dietz R,Cook SA,Sc

    更新日期:2008-05-01 00:00:00

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