Localization to Xq27 of a susceptibility gene for testicular germ-cell tumours.

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：:Testicular germ cell tumor (TGCT) is the most common cancer in young men and is notable for its high familial risks. So far, six loci associated with TGCT have been reported. From genome-wide association study (GWAS) analysis of 307,291 SNPs in 986 TGCT cases and 4,946 controls, we selected for follow-up 694 SNPs, whi...

journal_title：Nature genetics

authors： Ruark E,Seal S,McDonald H,Zhang F,Elliot A,Lau K,Perdeaux E,Rapley E,Eeles R,Peto J,Kote-Jarai Z,Muir K,Nsengimana J,Shipley J,UK Testicular Cancer Collaboration (UKTCC).,Bishop DT,Stratton MR,Easton DF,Huddart RA,R

更新日期：2013-06-01 00:00:00

abstract：:The tyrosine phosphatase Shp2 is recruited into tyrosine-kinase signalling pathways through binding of its two amino-terminal SH2 domains to specific phosphotyrosine motifs, concurrent with its re-localization and stimulation of phosphatase activity. Shp2 can potentiate signalling through the MAP-kinase pathway and is...

journal_title：Nature genetics

authors： Saxton TM,Ciruna BG,Holmyard D,Kulkarni S,Harpal K,Rossant J,Pawson T

更新日期：2000-04-01 00:00:00

abstract：:MicroRNAs (miRNAs) are key regulators of gene expression in animals and plants. Studies in a variety of model organisms show that miRNAs modulate developmental processes. To our knowledge, the only hereditary condition known to be caused by a miRNA is a form of adult-onset non-syndromic deafness, and no miRNA mutation...

journal_title：Nature genetics

authors： de Pontual L,Yao E,Callier P,Faivre L,Drouin V,Cariou S,Van Haeringen A,Geneviève D,Goldenberg A,Oufadem M,Manouvrier S,Munnich A,Vidigal JA,Vekemans M,Lyonnet S,Henrion-Caude A,Ventura A,Amiel J

更新日期：2011-09-04 00:00:00

abstract：:Type 1 diabetes is an autoimmune disease influenced by multiple genetic loci. Although more than 20 insulin-dependent diabetes (Idd) loci have been implicated in the nonobese diabetic (NOD) mouse model, few causal gene variants have been identified. Here we show that RNA interference (RNAi) can be used to probe candid...

journal_title：Nature genetics

authors： Kissler S,Stern P,Takahashi K,Hunter K,Peterson LB,Wicker LS

更新日期：2006-04-01 00:00:00

abstract：:The GM2 gangliosidoses, Tay-Sachs and Sandhoff diseases, are caused by mutations in the HEXA (alpha-subunit) and HEXB (beta-subunit) genes, respectively. Each gene encodes a subunit for the heterodimeric lysosomal enzyme, beta-hexosaminidase A (alpha beta), as well as for the homodimers beta-hexosaminidase B (beta bet...

journal_title：Nature genetics

authors： Sango K,McDonald MP,Crawley JN,Mack ML,Tifft CJ,Skop E,Starr CM,Hoffmann A,Sandhoff K,Suzuki K,Proia RL

更新日期：1996-11-01 00:00:00

abstract：:Lafora's disease (LD; OMIM 254780) is an autosomal recessive form of progressive myoclonus epilepsy characterized by seizures and cumulative neurological deterioration. Onset occurs during late childhood and usually results in death within ten years of the first symptoms. With few exceptions, patients follow a homogen...

journal_title：Nature genetics

authors： Minassian BA,Lee JR,Herbrick JA,Huizenga J,Soder S,Mungall AJ,Dunham I,Gardner R,Fong CY,Carpenter S,Jardim L,Satishchandra P,Andermann E,Snead OC 3rd,Lopes-Cendes I,Tsui LC,Delgado-Escueta AV,Rouleau GA,Scherer SW

更新日期：1998-10-01 00:00:00

abstract：:Congenital heart malformation (CHM) is the most common form of congenital human birth anomaly and is the leading cause of infant mortality. Although some causative genes have been identified, little progress has been made in identifying genes in which low-penetrance susceptibility variants occur in the majority of spo...

journal_title：Nature genetics

authors： Hu Z,Shi Y,Mo X,Xu J,Zhao B,Lin Y,Yang S,Xu Z,Dai J,Pan S,Da M,Wang X,Qian B,Wen Y,Wen J,Xing J,Guo X,Xia Y,Ma H,Jin G,Yu S,Liu J,Zhou Z,Wang X,Chen Y,Sha J,Shen H

更新日期：2013-07-01 00:00:00

abstract：:Genome-wide association studies have identified several loci associated with pancreatic cancer risk; however, the mechanisms by which genetic factors influence the development of sporadic pancreatic cancer remain largely unknown. Here, by using genome-wide association analysis and functional characterization, we ident...

journal_title：Nature genetics

authors： Zheng J,Huang X,Tan W,Yu D,Du Z,Chang J,Wei L,Han Y,Wang C,Che X,Zhou Y,Miao X,Jiang G,Yu X,Yang X,Cao G,Zuo C,Li Z,Wang C,Cheung ST,Jia Y,Zheng X,Shen H,Wu C,Lin D

更新日期：2016-07-01 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：:There is increasing evidence showing that the stromal cells surrounding cancer epithelial cells, rather than being passive bystanders, might have a role in modifying tumor outgrowth. The molecular basis of this aspect of carcinoma etiology is controversial. Some studies have reported a high frequency of genetic aberra...

journal_title：Nature genetics

authors： Qiu W,Hu M,Sridhar A,Opeskin K,Fox S,Shipitsin M,Trivett M,Thompson ER,Ramakrishna M,Gorringe KL,Polyak K,Haviv I,Campbell IG

更新日期：2008-05-01 00:00:00

abstract：:A layered organization of cells is a common architectural feature of many neuronal formations. Mutations of the zebrafish gene nagie oko (nok) produce a severe disruption of retinal architecture, indicating a key role for this locus in neuronal patterning. We show that nok encodes a membrane-associated guanylate kinas...

journal_title：Nature genetics

authors： Wei X,Malicki J

更新日期：2002-06-01 00:00:00

abstract：:PDGF-C is a member of the platelet-derived growth factor (PDGF) family, which signals through PDGF receptor (PDGFR) alphaalpha and alphabeta dimers. Here we show that Pdgfc(-/-) mice die in the perinatal period owing to feeding and respiratory difficulties associated with a complete cleft of the secondary palate. This...

journal_title：Nature genetics

authors： Ding H,Wu X,Boström H,Kim I,Wong N,Tsoi B,O'Rourke M,Koh GY,Soriano P,Betsholtz C,Hart TC,Marazita ML,Field LL,Tam PP,Nagy A

更新日期：2004-10-01 00:00:00

abstract：:Hirschsprung disease (HSCR) is a frequent congenital disorder (1 in 5,000 newborns) of unknown origin characterized by the absence of parasympathetic intrinsic ganglion cells of the hindgut. Taking advantage of a proximal deletion of chromosome 10q (del 10q11.2-q21.2) in a patient with total colonic aganglionosis, and...

journal_title：Nature genetics

authors： Lyonnet S,Bolino A,Pelet A,Abel L,Nihoul-Fékété C,Briard ML,Mok-Siu V,Kaariainen H,Martucciello G,Lerone M,Puliti A,Luo Y,Weissenbach J,Devoto M,Munnich A,Romeo G

更新日期：1993-08-01 00:00:00

abstract：:Comparative genomic analyses of primary tumors and metastases within individuals with pancreatic cancer have exposed the complex clonal dynamics that underlie the dissemination of cancer cells to distant sites. Recent studies implicate non-genetic mechanisms in this process, particularly fluctuations in chromatin stat...

journal_title：Nature genetics

authors： Vakoc CR,Tuveson DA

更新日期：2017-02-24 00:00:00

abstract：:Down syndrome confers a 20-fold increased risk of B cell acute lymphoblastic leukemia (B-ALL), and polysomy 21 is the most frequent somatic aneuploidy among all B-ALLs. Yet the mechanistic links between chromosome 21 triplication and B-ALL remain undefined. Here we show that germline triplication of only 31 genes orth...

journal_title：Nature genetics

authors： Lane AA,Chapuy B,Lin CY,Tivey T,Li H,Townsend EC,van Bodegom D,Day TA,Wu SC,Liu H,Yoda A,Alexe G,Schinzel AC,Sullivan TJ,Malinge S,Taylor JE,Stegmaier K,Jaffe JD,Bustin M,te Kronnie G,Izraeli S,Harris MH,Steve

更新日期：2014-06-01 00:00:00

abstract：:Age-related hearing loss (AHL) in common inbred mouse strains is a genetically complex quantitative trait. We found a synonymous single-nucleotide polymorphism in exon 7 of Cdh23 that shows significant association with AHL and the deafness modifier mdfw (modifer of deafwaddler). The hypomorphic Cdh23(753A) allele caus...

journal_title：Nature genetics

authors： Noben-Trauth K,Zheng QY,Johnson KR

更新日期：2003-09-01 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：: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：:Protein-protein interactions may impose constraints on both structural and regulatory evolution. Here we show that protein-protein interactions are negatively associated with evolutionary variation in gene expression. Moreover, interacting proteins have similar levels of variation in expression, and their expression l...

journal_title：Nature genetics

authors： Lemos B,Meiklejohn CD,Hartl DL

更新日期：2004-10-01 00:00:00

abstract：:Expansion of trinucleotide repeats can give rise to genetic disease. We have developed a technique, repeat expansion detection (RED), that can identify potentially pathological repeat expansion without prior knowledge of chromosomal location. Human genomic DNA is used as a template for a two-step cycling process that ...

journal_title：Nature genetics

authors： Schalling M,Hudson TJ,Buetow KH,Housman DE

更新日期：1993-06-01 00:00:00

abstract：:The apolipoprotein E (APOE) E4 allele is associated with Alzheimer's disease, cardiovascular disease, and decreased longevity. To probe the mechanism of these associations, cell lines were created which secrete each apoE isoform. ApoE conditioned media, purified apoE, and commercially obtained apoE protected B12 cells...

journal_title：Nature genetics

authors： Miyata M,Smith JD

更新日期：1996-09-01 00:00:00

abstract：:The combination of inhibition of RNA degradation and comparative genomic scanning is a powerful new method for detecting gene disruptions. The utility of the method is well-illustrated by a series of observations linking the ephrin receptor EPHB2 to prostate cancer. ...

journal_title：Nature genetics

authors： Mercola D,Welsh J

更新日期：2004-09-01 00:00:00

abstract：:Wilson disease (WD) is an autosomal recessive disorder of copper transport which map to chromosome 13q14.3. In pursuit of the WD gene, we developed yeast artificial chromosome and cosmid contigs, and microsatellite markers which span the WD gene region. Linkage disequilibrium and haplotype analysis of 115 WD families ...

journal_title：Nature genetics

authors： Petrukhin K,Fischer SG,Pirastu M,Tanzi RE,Chernov I,Devoto M,Brzustowicz LM,Cayanis E,Vitale E,Russo JJ

更新日期：1993-12-01 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：:We have previously shown that ASPP1 and ASPP2 are specific activators of p53; one mechanism by which wild-type p53 is tolerated in human breast carcinomas is through loss of ASPP activity. We have further shown that 53BP2, which corresponds to a C-terminal fragment of ASPP2, acts as a dominant negative inhibitor of p5...

journal_title：Nature genetics

authors： Bergamaschi D,Samuels Y,O'Neil NJ,Trigiante G,Crook T,Hsieh JK,O'Connor DJ,Zhong S,Campargue I,Tomlinson ML,Kuwabara PE,Lu X

更新日期：2003-02-01 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：:In the version of the article published, the author list is not accurate. Igor Cima and Min-Han Tan should have been authors, appearing after Mark Wong in the author list, while Paul Jongjoon Choi should not have been listed as an author. Igor Cima and Min-Han Tan both have the affiliation Institute of Bioengineering ...

journal_title：Nature genetics

authors： Li H,Courtois ET,Sengupta D,Tan Y,Chen KH,Goh JJL,Kong SL,Chua C,Hon LK,Tan WS,Wong M,Cima I,Tan MH,Wee LJK,Hillmer AM,Tan IB,Robson P,Prabhakar S

更新日期：2018-12-01 00:00:00

abstract：:Urocortin is a member of the corticotropin-releasing hormone peptide family and is found in many discrete brain regions. The distinct expression pattern of urocortin suggests that it influences such behaviors as feeding, anxiety and auditory processing. To better define the physiological roles of urocortin, we have ge...

journal_title：Nature genetics

authors： Vetter DE,Li C,Zhao L,Contarino A,Liberman MC,Smith GW,Marchuk Y,Koob GF,Heinemann SF,Vale W,Lee KF

更新日期：2002-08-01 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