Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration.

abstract：:High hyperdiploid (51-67 chromosomes) acute lymphoblastic leukemia (ALL) is one of the most common childhood malignancies, comprising 30% of all pediatric B cell-precursor ALL. Its characteristic genetic feature is the nonrandom gain of chromosomes X, 4, 6, 10, 14, 17, 18 and 21, with individual trisomies or tetrasomi...

journal_title：Nature genetics

authors： Paulsson K,Lilljebjörn H,Biloglav A,Olsson L,Rissler M,Castor A,Barbany G,Fogelstrand L,Nordgren A,Sjögren H,Fioretos T,Johansson B

更新日期：2015-06-01 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：:Although several lung cancer susceptibility loci have been identified, much of the heritability for lung cancer remains unexplained. Here 14,803 cases and 12,262 controls of European descent were genotyped on the OncoArray and combined with existing data for an aggregated genome-wide association study (GWAS) analysis ...

journal_title：Nature genetics

authors： McKay JD,Hung RJ,Han Y,Zong X,Carreras-Torres R,Christiani DC,Caporaso NE,Johansson M,Xiao X,Li Y,Byun J,Dunning A,Pooley KA,Qian DC,Ji X,Liu G,Timofeeva MN,Bojesen SE,Wu X,Le Marchand L,Albanes D,Bickeböller H

更新日期：2017-07-01 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：:Kallmann syndrome is a genetic disorder characterized by a defect in olfactory system development, which appears to be due to an abnormality in the migration of olfactory axons and gonadotropin releasing hormone (Gn-RH) producing neurons. The X-linked Kallmann syndrome gene shares significant similarities with molecul...

journal_title：Nature genetics

authors： Rugarli EI,Lutz B,Kuratani SC,Wawersik S,Borsani G,Ballabio A,Eichele G

更新日期：1993-05-01 00:00:00

abstract：:Angle-closure glaucoma (ACG) is a subset of glaucoma affecting 16 million people. Although 4 million people are bilaterally blind from ACG, the causative molecular mechanisms of ACG remain to be defined. High intraocular pressure induces glaucoma in ACG. High intraocular pressure traditionally was suggested to result ...

journal_title：Nature genetics

authors： Nair KS,Hmani-Aifa M,Ali Z,Kearney AL,Ben Salem S,Macalinao DG,Cosma IM,Bouassida W,Hakim B,Benzina Z,Soto I,Söderkvist P,Howell GR,Smith RS,Ayadi H,John SW

更新日期：2011-06-01 00:00:00

abstract：:Genomic and proteomic approaches can provide hypotheses concerning function for the large number of genes predicted from genome sequences. Because of the artificial nature of the assays, however, the information from these high-throughput approaches should be considered with caution. Although it is possible that more ...

journal_title：Nature genetics

authors： Ge H,Liu Z,Church GM,Vidal M

更新日期：2001-12-01 00:00:00

abstract：:The mutator hypothesis of tumorigenesis suggests that loss of chromosomal stability or maintenance functions results in elevated mutation rates, leading to the accumulation of the numerous mutations required for multistep carcinogenesis. The human DNA mismatch repair (MMR) genes are highly conserved homologues of the ...

journal_title：Nature genetics

authors： Cranston A,Bocker T,Reitmair A,Palazzo J,Wilson T,Mak T,Fishel R

更新日期：1997-09-01 00:00:00

abstract：:The human genome sequence has been finished to very high standards; however, more than 340 gaps remained when the finished genome was published by the International Human Genome Sequencing Consortium in 2004. Using fosmid resources generated from multiple individuals, we targeted gaps in the euchromatic part of the hu...

journal_title：Nature genetics

authors： Bovee D,Zhou Y,Haugen E,Wu Z,Hayden HS,Gillett W,Tuzun E,Cooper GM,Sampas N,Phelps K,Levy R,Morrison VA,Sprague J,Jewett D,Buckley D,Subramaniam S,Chang J,Smith DR,Olson MV,Eichler EE,Kaul R

更新日期：2008-01-01 00:00:00

abstract：:Linkage disequilibrium (LD) is a major aspect of the organization of genetic variation in natural populations. Here we describe the genome-wide pattern of LD in a sample of 19 Arabidopsis thaliana accessions using 341,602 non-singleton SNPs. LD decays within 10 kb on average, considerably faster than previously estima...

journal_title：Nature genetics

authors： Kim S,Plagnol V,Hu TT,Toomajian C,Clark RM,Ossowski S,Ecker JR,Weigel D,Nordborg M

更新日期：2007-09-01 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：: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：:Variation for metabolite composition and content is often observed in plants. However, it is poorly understood to what extent this variation has a genetic basis. Here, we describe the genetic analysis of natural variation in the metabolite composition in Arabidopsis thaliana. Instead of focusing on specific metabolite...

journal_title：Nature genetics

authors： Keurentjes JJ,Fu J,de Vos CH,Lommen A,Hall RD,Bino RJ,van der Plas LH,Jansen RC,Vreugdenhil D,Koornneef M

更新日期：2006-07-01 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：: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

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

abstract：:Two families with Gerstmann-Sträussler-Scheinker disease (GSS) are atypical in possessing neocortical neurofibrillary tangles (NFTs), which are few or absent in other kindreds with GSS, in addition to amyloid plaques that react with prion protein (PrP) antibodies and protease-resistant PrP accumulation in the brain. A...

journal_title：Nature genetics

authors： Hsiao K,Dlouhy SR,Farlow MR,Cass C,Da Costa M,Conneally PM,Hodes ME,Ghetti B,Prusiner SB

更新日期：1992-04-01 00:00:00

abstract：:The technology of modifying endogenous genes has recently been extended from mice to Drosophila and sheep. Concurrently, genomic sequencing is uncovering thousands of previously uncharacterized genes. Armed with today's technologies, what are our best options for delineating the functions of these new genes? ...

journal_title：Nature genetics

authors： Capecchi MR

更新日期：2000-10-01 00:00:00

abstract：:Long interspersed elements (LINE-1s) are abundant retrotransposons in mammalian genomes that probably retrotranspose by target site-primed reverse transcription (TPRT). During TPRT, the LINE-1 endonuclease cleaves genomic DNA, freeing a 3' hydroxyl that serves as a primer for reverse transcription of LINE-1 RNA by LIN...

journal_title：Nature genetics

authors： Morrish TA,Gilbert N,Myers JS,Vincent BJ,Stamato TD,Taccioli GE,Batzer MA,Moran JV

更新日期：2002-06-01 00:00:00

abstract：:Genetic linkage studies with chromosome 21 DNA markers and mutation analysis of the beta-amyloid protein precursor gene located in 21q21.3 have indicated that early-onset Alzheimer's disease (EOAD) is a heterogeneous disorder for which at least one other chromosomal locus exists. We examined two extended histopatholog...

journal_title：Nature genetics

authors： Van Broeckhoven C,Backhovens H,Cruts M,De Winter G,Bruyland M,Cras P,Martin JJ

更新日期：1992-12-01 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：: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：:Genomic instability at simple repeated sequences (SRS) is a landmark for some sporadic and hereditary cancers of the colon. We have identified several human tumour cell lines with up to 1,000-fold increases in mutation rates for endogenous microsatellite sequences, relative to normal cells or tumour cells without the ...

journal_title：Nature genetics

authors： Shibata D,Peinado MA,Ionov Y,Malkhosyan S,Perucho M

更新日期：1994-03-01 00:00:00

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

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

abstract：:Genomic imprinting is an epigenetic modification that results in expression from only one of the two parental copies of a gene. Differences in methylation between the two parental chromosomes are often observed at or near imprinted genes. Beckwith-Wiedemann syndrome (BWS), which predisposes to cancer and excessive gro...

journal_title：Nature genetics

authors： Fitzpatrick GV,Soloway PD,Higgins MJ

更新日期：2002-11-01 00:00:00

abstract：:Cell fate during development is defined by transcription factors that act as molecular switches to activate or repress specific gene expression programmes. The POU transcription factor Oct-3/4 (encoded by Pou5f1) is a candidate regulator in pluripotent and germline cells and is essential for the initial formation of a...

journal_title：Nature genetics

authors： Niwa H,Miyazaki J,Smith AG

更新日期：2000-04-01 00:00:00

abstract：:Population stratification refers to differences in allele frequencies between cases and controls due to systematic differences in ancestry rather than association of genes with disease. It has been proposed that false positive associations due to stratification can be controlled by genotyping a few dozen unlinked gene...

journal_title：Nature genetics

authors： Freedman ML,Reich D,Penney KL,McDonald GJ,Mignault AA,Patterson N,Gabriel SB,Topol EJ,Smoller JW,Pato CN,Pato MT,Petryshen TL,Kolonel LN,Lander ES,Sklar P,Henderson B,Hirschhorn JN,Altshuler D

更新日期：2004-04-01 00:00:00

abstract：:Little is known about the genetic regulation of medulloblastoma dissemination, but metastatic medulloblastoma is highly associated with poor outcome. We obtained expression profiles of 23 primary medulloblastomas clinically designated as either metastatic (M+) or non-metastatic (M0) and identified 85 genes whose expre...

journal_title：Nature genetics

authors： MacDonald TJ,Brown KM,LaFleur B,Peterson K,Lawlor C,Chen Y,Packer RJ,Cogen P,Stephan DA

更新日期：2001-10-01 00:00:00

abstract：:We report germline missense mutations in ETV6 segregating with the dominant transmission of thrombocytopenia and hematologic malignancy in three unrelated kindreds, defining a new hereditary syndrome featuring thrombocytopenia with susceptibility to diverse hematologic neoplasms. Two variants, p.Arg369Gln and p.Arg399...

journal_title：Nature genetics

authors： Zhang MY,Churpek JE,Keel SB,Walsh T,Lee MK,Loeb KR,Gulsuner S,Pritchard CC,Sanchez-Bonilla M,Delrow JJ,Basom RS,Forouhar M,Gyurkocza B,Schwartz BS,Neistadt B,Marquez R,Mariani CJ,Coats SA,Hofmann I,Lindsley RC,Wil

更新日期：2015-02-01 00:00:00

abstract：:In embryonic stem cells (ESCs), developmental gene promoters are characterized by their bivalent chromatin state, with simultaneous modification by MLL2 and Polycomb complexes. Although essential for embryogenesis, bivalency is functionally not well understood. Here, we show that MLL2 plays a central role in ESC genom...

journal_title：Nature genetics

authors： Mas G,Blanco E,Ballaré C,Sansó M,Spill YG,Hu D,Aoi Y,Le Dily F,Shilatifard A,Marti-Renom MA,Di Croce L

更新日期：2018-10-01 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