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

abstract：:Splice acceptors with the genomic NAGNAG motif may cause NAG insertion-deletions in transcripts, occur in 30% of human genes and are functional in at least 5% of human genes. We found five significant biases indicating that their distribution is nonrandom and that they are evolutionarily conserved and tissue-specific....

journal_title：Nature genetics

authors： Hiller M,Huse K,Szafranski K,Jahn N,Hampe J,Schreiber S,Backofen R,Platzer M

更新日期：2004-12-01 00:00:00

abstract：:Using homozygosity mapping and locus resequencing, we found that alterations in the homeodomain of the IRX5 transcription factor cause a recessive congenital disorder affecting face, brain, blood, heart, bone and gonad development. We found through in vivo modeling in Xenopus laevis embryos that Irx5 modulates the mig...

journal_title：Nature genetics

authors： Bonnard C,Strobl AC,Shboul M,Lee H,Merriman B,Nelson SF,Ababneh OH,Uz E,Güran T,Kayserili H,Hamamy H,Reversade B

更新日期：2012-05-13 00:00:00

abstract：:The hallmark of type 2 diabetes, the most common metabolic disorder, is a defect in insulin-stimulated glucose transport in peripheral tissues. Although a role for phosphoinositide-3-kinase (PI3K) activity in insulin-stimulated glucose transport and glucose transporter isoform 4 (Glut4) translocation has been suggeste...

journal_title：Nature genetics

authors： Terauchi Y,Tsuji Y,Satoh S,Minoura H,Murakami K,Okuno A,Inukai K,Asano T,Kaburagi Y,Ueki K,Nakajima H,Hanafusa T,Matsuzawa Y,Sekihara H,Yin Y,Barrett JC,Oda H,Ishikawa T,Akanuma Y,Komuro I,Suzuki M,Yamamura K,

更新日期：1999-02-01 00:00:00

abstract：:Errors in meiotic chromosome segregation are the leading cause of spontaneous abortions and birth defects. In humans, chromosomes that fail to experience crossovers (or exchanges) are error-prone, more likely than exchange chromosomes to mis-segregate in meiosis. We used a yeast model to investigate the mechanisms tha...

journal_title：Nature genetics

authors： Cheslock PS,Kemp BJ,Boumil RM,Dawson DS

更新日期：2005-07-01 00:00:00

abstract：:Heritable inactivation of specific regions of the genome is a widespread, possibly universal phenomenon for gene regulation in eukaryotes. Self-perpetuating, clonally inherited chromatin structure has been proposed as the explanation for such phenomena as position-effect variegation (PEV) and control of segment determ...

journal_title：Nature genetics

authors： Ivanova AV,Bonaduce MJ,Ivanov SV,Klar AJ

更新日期：1998-06-01 00:00:00

abstract：:Densely methylated DNA associates with transcriptionally repressive chromatin characterized by the presence of underacetylated histones. Recently, these two epigenetic processes have been dynamically linked. The methyl-CpG-binding protein MeCP2 appears to reside in a complex with histone deacetylase activity. MeCP2 ca...

journal_title：Nature genetics

authors： Cameron EE,Bachman KE,Myöhänen S,Herman JG,Baylin SB

更新日期：1999-01-01 00:00:00

abstract：:Intestinal microbiota is known to be important in health and disease. Its composition is influenced by both environmental and host factors. Few large-scale studies have evaluated the association between host genetic variation and the composition of microbiota. We recruited a cohort of 1,561 healthy individuals, of who...

journal_title：Nature genetics

authors： Turpin W,Espin-Garcia O,Xu W,Silverberg MS,Kevans D,Smith MI,Guttman DS,Griffiths A,Panaccione R,Otley A,Xu L,Shestopaloff K,Moreno-Hagelsieb G,GEM Project Research Consortium.,Paterson AD,Croitoru K

更新日期：2016-11-01 00:00:00

abstract：:After imputation of data from the 1000 Genomes Project into a genome-wide dataset of Ghanaian individuals with tuberculosis and controls, we identified a resistance locus on chromosome 11p13 downstream of the WT1 gene (encoding Wilms tumor 1). The strongest signal was obtained at the rs2057178 SNP (P = 2.63 × 10(-9))....

journal_title：Nature genetics

authors： Thye T,Owusu-Dabo E,Vannberg FO,van Crevel R,Curtis J,Sahiratmadja E,Balabanova Y,Ehmen C,Muntau B,Ruge G,Sievertsen J,Gyapong J,Nikolayevskyy V,Hill PC,Sirugo G,Drobniewski F,van de Vosse E,Newport M,Alisjahbana B,

更新日期：2012-02-05 00:00:00

abstract：:TET enzymes oxidize 5-methylcytosine (5mC) to 5-hydroxymethylcytosine (5hmC), which can lead to DNA demethylation. However, direct connections between TET-mediated DNA demethylation and transcriptional output are difficult to establish owing to challenges in distinguishing global versus locus-specific effects. Here we...

journal_title：Nature genetics

authors： Verma N,Pan H,Doré LC,Shukla A,Li QV,Pelham-Webb B,Teijeiro V,González F,Krivtsov A,Chang CJ,Papapetrou EP,He C,Elemento O,Huangfu D

更新日期：2018-01-01 00:00:00

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

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

abstract：:Diffuse large B-cell lymphoma (DLBCL) is the most common form of human lymphoma. Although a number of structural alterations have been associated with the pathogenesis of this malignancy, the full spectrum of genetic lesions that are present in the DLBCL genome, and therefore the identity of dysregulated cellular path...

journal_title：Nature genetics

authors： Pasqualucci L,Trifonov V,Fabbri G,Ma J,Rossi D,Chiarenza A,Wells VA,Grunn A,Messina M,Elliot O,Chan J,Bhagat G,Chadburn A,Gaidano G,Mullighan CG,Rabadan R,Dalla-Favera R

更新日期：2011-07-31 00:00:00

abstract：:Crouzon syndrome is an autosomal dominant condition causing premature fusion of the cranial sutures (craniosynostosis) and maps to chromosome 10q25-q26. We now present evidence that mutations in the fibroblast growth factor receptor 2 gene (FGFR2) cause Crouzon syndrome. We found SSCP variations in the B exon of FGFR2...

journal_title：Nature genetics

authors： Reardon W,Winter RM,Rutland P,Pulleyn LJ,Jones BM,Malcolm S

更新日期：1994-09-01 00:00:00

abstract：:Evolutionary theory predicts substantial interspecific and intraspecific differences in the proximal mechanisms of ageing. Our goal here is to seek evidence for common ('public') mechanisms among diverse organisms amenable to genetic analysis. Oxidative damage is a candidate for such a public mechanism of ageing. Long...

journal_title：Nature genetics

authors： Martin GM,Austad SN,Johnson TE

更新日期：1996-05-01 00:00:00

abstract：:Ocular retardation (or) is a murine eye mutation causing microphthalmia, a thin hypocellular retina and optic nerve aplasia. Here we show that mice carrying the OrJ allele have a premature stop codon in the homeobox of the Chx10 gene, a gene expressed at high levels in uncommitted retinal progenitor cells and mature b...

journal_title：Nature genetics

authors： Burmeister M,Novak J,Liang MY,Basu S,Ploder L,Hawes NL,Vidgen D,Hoover F,Goldman D,Kalnins VI,Roderick TH,Taylor BA,Hankin MH,McInnes RR

更新日期：1996-04-01 00:00:00

abstract：:Nearly all cases of fragile X syndrome result from expansion of a CGG trinucleotide repeat found in the 5' untranslated portion of the FMR1 gene. Methylation of the expanded repeats correlates with down-regulation of transcription of FMR1; thus fragile X syndrome is postulated to be due to a loss of function of the FM...

journal_title：Nature genetics

authors： Lugenbeel KA,Peier AM,Carson NL,Chudley AE,Nelson DL

更新日期：1995-08-01 00:00:00

abstract：:The tissue-specific organization of collagen molecules into tridimensional macroaggregates determines the physiomechanical properties of most connective tissues, but the factors and mechanisms controlling this process are unknown. It has been postulated that quantitatively minor types V and XI collagen regulate the gr...

journal_title：Nature genetics

authors： Andrikopoulos K,Liu X,Keene DR,Jaenisch R,Ramirez F

更新日期：1995-01-01 00:00:00

abstract：:Sequence variation in human genes is largely confined to single-nucleotide polymorphisms (SNPs) and is valuable in tests of association with common diseases and pharmacogenetic traits. We performed a systematic and comprehensive survey of molecular variation to assess the nature, pattern and frequency of SNPs in 75 ca...

journal_title：Nature genetics

authors： Halushka MK,Fan JB,Bentley K,Hsie L,Shen N,Weder A,Cooper R,Lipshutz R,Chakravarti A

更新日期：1999-07-01 00:00:00

abstract：:The syndrome of hyperactivity describes behavioural disorders existing mainly in children and characterized by increased levels of motor activity, inattention and impulsivity. Overall the aetiology is poorly understood due to the heterogeneity of the pathology although psychological, biological and social factors acti...

journal_title：Nature genetics

authors： Moisan MP,Courvoisier H,Bihoreau MT,Gauguier D,Hendley ED,Lathrop M,James MR,Mormède P

更新日期：1996-12-01 00:00:00

abstract：:Recent studies of human oocytes have demonstrated an enrichment for distal exchanges among meiosis I (MI) nondisjunction events and for proximal exchanges among meiosis II (MII) events. Our characterization of 103 cases of spontaneous X chromosome nondisjunction in Drosophila oocytes strongly parallels these observati...

journal_title：Nature genetics

authors： Koehler KE,Boulton CL,Collins HE,French RL,Herman KC,Lacefield SM,Madden LD,Schuetz CD,Hawley RS

更新日期：1996-12-01 00:00:00

abstract：:We apply integrative approaches to expression quantitative loci (eQTLs) from 44 tissues from the Genotype-Tissue Expression project and genome-wide association study data. About 60% of known trait-associated loci are in linkage disequilibrium with a cis-eQTL, over half of which were not found in previous large-scale w...

journal_title：Nature genetics

authors： Gamazon ER,Segrè AV,van de Bunt M,Wen X,Xi HS,Hormozdiari F,Ongen H,Konkashbaev A,Derks EM,Aguet F,Quan J,GTEx Consortium.,Nicolae DL,Eskin E,Kellis M,Getz G,McCarthy MI,Dermitzakis ET,Cox NJ,Ardlie KG

更新日期：2018-07-01 00:00:00

abstract：:A CRISPR screen conducted in a CD4+ T cell leukemia line has identified host factors required for HIV infection but dispensable for cellular survival. The results highlight sulfation on the HIV co-receptor CCR5 and cellular aggregation as potential targets for therapeutic intervention. ...

journal_title：Nature genetics

authors： Tsui CK,Gupta A,Bassik MC

更新日期：2017-01-31 00:00:00

abstract：:A scarlet fever outbreak began in mainland China and Hong Kong in 2011 (refs. 1-6). Macrolide- and tetracycline-resistant Streptococcus pyogenes emm12 isolates represent the majority of clinical cases. Recently, we identified two mobile genetic elements that were closely associated with emm12 outbreak isolates: the in...

journal_title：Nature genetics

authors： Davies MR,Holden MT,Coupland P,Chen JH,Venturini C,Barnett TC,Zakour NL,Tse H,Dougan G,Yuen KY,Walker MJ

更新日期：2015-01-01 00:00:00

abstract：:A genome-wide study of fasting insulin, HDL cholesterol and triglycerides, designed to depict insulin resistance, identified 53 independent loci associated with a limited capacity to store fat in a healthy way. The increased power of this multitrait approach provides insights into an otherwise difficult-to-grasp pheno...

journal_title：Nature genetics

authors： Heid IM,Winkler TW

更新日期：2016-12-28 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： Chan-Seng-Yue M,Kim JC,Wilson GW,Ng K,Figueroa EF,O'Kane GM,Connor AA,Denroche RE,Grant RC,McLeod J,Wilson JM,Jang GH,Zhang A,Liang SB,Borgida A,Chadwick D,Kalimuthu S,Lungu I,Bartlett JMS,Krzyzanowski PM,Sandhu V

更新日期：2020-04-01 00:00:00

abstract：:Patients with a combined immunodeficiency characterized by normal numbers but impaired function of T and B cells had a homozygous p.Tyr20His substitution in transferrin receptor 1 (TfR1), encoded by TFRC. The substitution disrupts the TfR1 internalization motif, resulting in defective receptor endocytosis and markedly...

journal_title：Nature genetics

authors： Jabara HH,Boyden SE,Chou J,Ramesh N,Massaad MJ,Benson H,Bainter W,Fraulino D,Rahimov F,Sieff C,Liu ZJ,Alshemmari SH,Al-Ramadi BK,Al-Dhekri H,Arnaout R,Abu-Shukair M,Vatsayan A,Silver E,Ahuja S,Davies EG,Sola-Visne

更新日期：2016-01-01 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

abstract：:Crosses between the two North American rodent species Peromyscus polionotus (PO) and Peromyscus maniculatus (BW) yield parent-of-origin effects on both embryonic and placental growth. The two species are approximately the same size, but a female BW crossed with a male PO produces offspring that are smaller than either...

journal_title：Nature genetics

authors： Vrana PB,Fossella JA,Matteson P,del Rio T,O'Neill MJ,Tilghman SM

更新日期：2000-05-01 00:00:00

abstract：:Hereditary dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurologic disorder characterized by variable combinations of myoclonus, epilepsy, cerebellar ataxia, choreoathetosis and dementia. By specifically searching published brain cDNA sequences for the presence of CAG repeats we identified uns...

journal_title：Nature genetics

authors： Koide R,Ikeuchi T,Onodera O,Tanaka H,Igarashi S,Endo K,Takahashi H,Kondo R,Ishikawa A,Hayashi T

更新日期：1994-01-01 00:00:00

abstract：:Leber congenital amaurosis (LCA) is a blinding retinal disease that presents within the first year after birth. Using exome sequencing, we identified mutations in the nicotinamide adenine dinucleotide (NAD) synthase gene NMNAT1 encoding nicotinamide mononucleotide adenylyltransferase 1 in eight families with LCA, incl...

journal_title：Nature genetics

authors： Koenekoop RK,Wang H,Majewski J,Wang X,Lopez I,Ren H,Chen Y,Li Y,Fishman GA,Genead M,Schwartzentruber J,Solanki N,Traboulsi EI,Cheng J,Logan CV,McKibbin M,Hayward BE,Parry DA,Johnson CA,Nageeb M,Finding of Rare Dis

更新日期：2012-09-01 00:00:00

abstract：: ...

journal_title：Nature genetics

authors： Werner B,Williams MJ,Barnes CP,Graham TA,Sottoriva A

更新日期：2018-12-01 00:00:00