A taste of pineapple evolution through genome sequencing.

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：: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：: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：:More than 5 million single-nucleotide polymorphisms (SNPs) with minor-allele frequency greater than 10% are expected to exist in the human genome. Some of these SNPs may be associated with risk of developing common diseases. To assess the power of currently available SNPs to detect such associations, we resequenced 50...

journal_title：Nature genetics

authors： Carlson CS,Eberle MA,Rieder MJ,Smith JD,Kruglyak L,Nickerson DA

更新日期：2003-04-01 00:00:00

abstract：:Genome-wide association studies have identified several risk associations for ovarian carcinomas but not for mucinous ovarian carcinomas (MOCs). Our analysis of 1,644 MOC cases and 21,693 controls with imputation identified 3 new risk associations: rs752590 at 2q13 (P = 3.3 × 10(-8)), rs711830 at 2q31.1 (P = 7.5 × 10(...

journal_title：Nature genetics

authors： Kelemen LE,Lawrenson K,Tyrer J,Li Q,Lee JM,Seo JH,Phelan CM,Beesley J,Chen X,Spindler TJ,Aben KK,Anton-Culver H,Antonenkova N,Australian Cancer Study.,Australian Ovarian Cancer Study Group.,Ovarian Cancer Association Consor

更新日期：2015-08-01 00:00:00

abstract：:Alström syndrome (OMIM 203800) is an autosomal recessive disease, characterized by cone-rod retinal dystrophy, cardiomyopathy and type 2 diabetes mellitus, that has been mapped to chromosome 2p13 (refs 1-5). We have studied an individual with Alström syndrome carrying a familial balanced reciprocal chromosome transloc...

journal_title：Nature genetics

authors： Hearn T,Renforth GL,Spalluto C,Hanley NA,Piper K,Brickwood S,White C,Connolly V,Taylor JF,Russell-Eggitt I,Bonneau D,Walker M,Wilson DI

更新日期：2002-05-01 00:00:00

abstract：:We report full-length draft de novo genome assemblies for 16 widely used inbred mouse strains and find extensive strain-specific haplotype variation. We identify and characterize 2,567 regions on the current mouse reference genome exhibiting the greatest sequence diversity. These regions are enriched for genes involve...

journal_title：Nature genetics

authors： Lilue J,Doran AG,Fiddes IT,Abrudan M,Armstrong J,Bennett R,Chow W,Collins J,Collins S,Czechanski A,Danecek P,Diekhans M,Dolle DD,Dunn M,Durbin R,Earl D,Ferguson-Smith A,Flicek P,Flint J,Frankish A,Fu B,Gerstein

更新日期：2018-11-01 00:00:00

abstract：:Translocation events are frequent in cancer and may create chimeric fusions or 'regulatory rearrangements' that drive oncogene overexpression. Here we identify super-enhancer translocations that drive overexpression of the oncogenic transcription factor MYB as a recurrent theme in adenoid cystic carcinoma (ACC). Whole...

journal_title：Nature genetics

authors： Drier Y,Cotton MJ,Williamson KE,Gillespie SM,Ryan RJ,Kluk MJ,Carey CD,Rodig SJ,Sholl LM,Afrogheh AH,Faquin WC,Queimado L,Qi J,Wick MJ,El-Naggar AK,Bradner JE,Moskaluk CA,Aster JC,Knoechel B,Bernstein BE

更新日期：2016-03-01 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：:Genetic studies of complex traits have mainly identified associations with noncoding variants. To further determine the contribution of regulatory variation, we combined whole-genome and transcriptome data for 624 individuals from Sardinia to identify common and rare variants that influence gene expression and splicin...

journal_title：Nature genetics

authors： Pala M,Zappala Z,Marongiu M,Li X,Davis JR,Cusano R,Crobu F,Kukurba KR,Gloudemans MJ,Reinier F,Berutti R,Piras MG,Mulas A,Zoledziewska M,Marongiu M,Sorokin EP,Hess GT,Smith KS,Busonero F,Maschio A,Steri M,Sidore

更新日期：2017-05-01 00:00:00

abstract：:Tissue and cell-type identity lie at the core of human physiology and disease. Understanding the genetic underpinnings of complex tissues and individual cell lineages is crucial for developing improved diagnostics and therapeutics. We present genome-wide functional interaction networks for 144 human tissues and cell t...

journal_title：Nature genetics

authors： Greene CS,Krishnan A,Wong AK,Ricciotti E,Zelaya RA,Himmelstein DS,Zhang R,Hartmann BM,Zaslavsky E,Sealfon SC,Chasman DI,FitzGerald GA,Dolinski K,Grosser T,Troyanskaya OG

更新日期：2015-06-01 00:00:00

abstract：:Mitochondrial DNA (mtDNA)-depletion syndromes (MDS; OMIM 251880) are phenotypically heterogeneous, autosomal-recessive disorders characterized by tissue-specific reduction in mtDNA copy number. Affected individuals with the hepatocerebral form of MDS have early progressive liver failure and neurological abnormalities,...

journal_title：Nature genetics

authors： Mandel H,Szargel R,Labay V,Elpeleg O,Saada A,Shalata A,Anbinder Y,Berkowitz D,Hartman C,Barak M,Eriksson S,Cohen N

更新日期：2001-11-01 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：:Hypertension, diabetes and hyperlipidemia are risk factors for life-threatening complications such as end-stage renal disease, coronary artery disease and stroke. Why some patients develop complications is unclear, but only susceptibility genes may be involved. To test this notion, we studied crosses involving the faw...

journal_title：Nature genetics

authors： Brown DM,Provoost AP,Daly MJ,Lander ES,Jacob HJ

更新日期：1996-01-01 00:00:00

abstract：:An ever-larger proportion of the liability to common and complex disease can be obtained by progressively larger studies. However, for most diseases, the sample sizes required to gain usable predictions will be out of reach of sequencing technologies for the foreseeable future. Array-based genotyping genome-wide assoc...

journal_title：Nature genetics

authors：

更新日期：2013-04-01 00:00:00

abstract：:Stem cell regulation is critical to the development of all multicellular organisms; in plants, stem cell niches reside in meristems. Two newly identified plant genes establish a novel signaling feedback from the incipient leaf primordia back to the meristem that is required to regulate stem cell proliferation. ...

journal_title：Nature genetics

authors： Strable J,Scanlon MJ

更新日期：2016-06-28 00:00:00

abstract：:Aicardi-Goutières syndrome (AGS) is an autosomal recessive neurological disorder, the clinical and immunological features of which parallel those of congenital viral infection. Here we define the composition of the human ribonuclease H2 enzyme complex and show that AGS can result from mutations in the genes encoding a...

journal_title：Nature genetics

authors： Crow YJ,Leitch A,Hayward BE,Garner A,Parmar R,Griffith E,Ali M,Semple C,Aicardi J,Babul-Hirji R,Baumann C,Baxter P,Bertini E,Chandler KE,Chitayat D,Cau D,Déry C,Fazzi E,Goizet C,King MD,Klepper J,Lacombe D,Lan

更新日期：2006-08-01 00:00:00

abstract：:Therapeutic cloning, whereby somatic cell nuclear transfer (SCNT) is used to generate patient-specific embryonic stem cells (ESCs) from blastocysts cloned by nuclear transfer (ntESCs), holds great promise for the treatment of many human diseases. ntESCs have been derived in mice and cattle, but thus far there are no c...

journal_title：Nature genetics

authors： Yang X,Smith SL,Tian XC,Lewin HA,Renard JP,Wakayama T

更新日期：2007-03-01 00:00:00

abstract：:The human genome can be segmented into topologically associating domains (TADs), which have been proposed to spatially sequester genes and regulatory elements through chromatin looping. Interactions between TADs have also been suggested, presumably because of variable boundary positions across individual cells. Howeve...

journal_title：Nature genetics

authors： Luppino JM,Park DS,Nguyen SC,Lan Y,Xu Z,Yunker R,Joyce EF

更新日期：2020-08-01 00:00:00

abstract：:Obesity is a major predisposing factor for the development of several chronic diseases including non-insulin dependent diabetes mellitus (NIDDM) and coronary heart disease (CHD). Leptin is a serum protein which is secreted by adipocytes and thought to play a role in the regulation of body fat. Leptin levels in humans ...

journal_title：Nature genetics

authors： Comuzzie AG,Hixson JE,Almasy L,Mitchell BD,Mahaney MC,Dyer TD,Stern MP,MacCluer JW,Blangero J

更新日期：1997-03-01 00:00:00

abstract：:Overgrowth disorders are a heterogeneous group of conditions characterized by increased growth parameters and other variable clinical features such as intellectual disability and facial dysmorphism. To identify new causes of human overgrowth, we performed exome sequencing in ten proband-parent trios and detected two d...

journal_title：Nature genetics

authors： Tatton-Brown K,Seal S,Ruark E,Harmer J,Ramsay E,Del Vecchio Duarte S,Zachariou A,Hanks S,O'Brien E,Aksglaede L,Baralle D,Dabir T,Gener B,Goudie D,Homfray T,Kumar A,Pilz DT,Selicorni A,Temple IK,Van Maldergem L,Yac

更新日期：2014-04-01 00:00:00

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：:We developed a likelihood-based approach for analyzing summary-level statistics and external linkage disequilibrium information to estimate effect-size distributions of common variants, characterized by the proportion of underlying susceptibility SNPs and a flexible normal-mixture model for their effects. Analysis of ...

journal_title：Nature genetics

authors： Zhang Y,Qi G,Park JH,Chatterjee N

更新日期：2018-09-01 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 have carried out automated extraction of explicit and implicit biomedical knowledge from publicly available gene and text databases to create a gene-to-gene co-citation network for 13,712 named human genes by automated analysis of titles and abstracts in over 10 million MEDLINE records. The associations between gen...

journal_title：Nature genetics

authors： Jenssen TK,Laegreid A,Komorowski J,Hovig E

更新日期：2001-05-01 00:00:00

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

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

更新日期：2008-10-01 00:00:00

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

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

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：: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

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

abstract：:Congenic breeding strategies are becoming increasingly important as a greater number of complex trait linkages are identified. Traditionally, the development of a congenic strain has been a time-consuming endeavour, requiring ten generations of backcrosses. The recent advent of a dense molecular genetic map of the mou...

journal_title：Nature genetics

authors： Markel P,Shu P,Ebeling C,Carlson GA,Nagle DL,Smutko JS,Moore KJ

更新日期：1997-11-01 00:00:00