Canalization of development by microRNAs.

abstract：:Dominant mutations in the MORC2 gene have recently been shown to cause axonal Charcot-Marie-Tooth (CMT) disease, but the cellular function of MORC2 is poorly understood. Here, through a genome-wide CRISPR-Cas9-mediated forward genetic screen, we identified MORC2 as an essential gene required for epigenetic silencing b...

journal_title：Nature genetics

authors： Tchasovnikarova IA,Timms RT,Douse CH,Roberts RC,Dougan G,Kingston RE,Modis Y,Lehner PJ

更新日期：2017-07-01 00:00:00

abstract：:Our genome-wide association study of celiac disease previously identified risk variants in the IL2-IL21 region. To identify additional risk variants, we genotyped 1,020 of the most strongly associated non-HLA markers in an additional 1,643 cases and 3,406 controls. Through joint analysis including the genome-wide asso...

journal_title：Nature genetics

authors： Hunt KA,Zhernakova A,Turner G,Heap GA,Franke L,Bruinenberg M,Romanos J,Dinesen LC,Ryan AW,Panesar D,Gwilliam R,Takeuchi F,McLaren WM,Holmes GK,Howdle PD,Walters JR,Sanders DS,Playford RJ,Trynka G,Mulder CJ,Mearin

更新日期：2008-04-01 00:00:00

abstract：:We have investigated the pathogenetic mechanism of the mitochondrial tRNA(Lys) gene mutation (position 8344) associated with MERRF encephalomyopathy in several mitochondrial DNA (mtDNA)-less cell transformants carrying the mutation and in control cells. A decrease of 50-60% in the specific tRNA(Lys) aminoacylation cap...

journal_title：Nature genetics

authors： Enriquez JA,Chomyn A,Attardi G

更新日期：1995-05-01 00:00:00

abstract：:Transcription is a slow and expensive process: in eukaryotes, approximately 20 nucleotides can be transcribed per second at the expense of at least two ATP molecules per nucleotide. Thus, at least for highly expressed genes, transcription of long introns, which are particularly common in mammals, is costly. Using data...

journal_title：Nature genetics

authors： Castillo-Davis CI,Mekhedov SL,Hartl DL,Koonin EV,Kondrashov FA

更新日期：2002-08-01 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：:Distal hereditary motor neuropathy (dHMN) or distal spinal muscular atrophy (OMIM #182960) is a heterogeneous group of disorders characterized by an almost exclusive degeneration of motor nerve fibers, predominantly in the distal part of the limbs. Silver syndrome (OMIM #270685) is a rare form of hereditary spastic pa...

journal_title：Nature genetics

authors： Windpassinger C,Auer-Grumbach M,Irobi J,Patel H,Petek E,Hörl G,Malli R,Reed JA,Dierick I,Verpoorten N,Warner TT,Proukakis C,Van den Bergh P,Verellen C,Van Maldergem L,Merlini L,De Jonghe P,Timmerman V,Crosby AH,Wagn

更新日期：2004-03-01 00:00:00

abstract：:The T-cell receptor (TCR) is composed of two glycoproteins (alpha and beta or gamma and delta) associated with four invariant polypeptides (CD3-gamma, delta, epsilon and zeta). The majority of TCR/CD3 complexes contain six polypeptide chains, and although there is some flexibility in the complex subunit stoichiometry ...

journal_title：Nature genetics

authors： Soudais C,de Villartay JP,Le Deist F,Fischer A,Lisowska-Grospierre B

更新日期：1993-01-01 00:00:00

abstract：:Chromatin packaging in mammalian spermatozoa requires an ordered replacement of the somatic histones by two classes of spermatid-specific basic proteins, the transition proteins and the protamines. Temporal expression of transition proteins and protamines during spermatid differentiation is under translational control...

journal_title：Nature genetics

authors： Zhong J,Peters AH,Lee K,Braun RE

更新日期：1999-06-01 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：: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：: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：:Non-insulin-dependent (type II) diabetes mellitus (NIDDM) is characterized by hyperglycaemia and insulin resistance, and affects nearly 5% of the general population. Inherited factors are important for its development, but the genes involved are unknown. We have identified a large pedigree in which NIDDM, in combinati...

journal_title：Nature genetics

authors： van den Ouweland JM,Lemkes HH,Ruitenbeek W,Sandkuijl LA,de Vijlder MF,Struyvenberg PA,van de Kamp JJ,Maassen JA

更新日期：1992-08-01 00:00:00

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

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

abstract：:A new approach for the isolation of chromosome-specific subsets from a human genomic yeast artificial chromosome (YAC) library is described. It is based on the hybridization with an Alu polymerase chain reaction (PCR) probe. We screened a 1.5 genome equivalent YAC library of megabase insert size with Alu PCR products ...

journal_title：Nature genetics

authors： Chumakov IM,Le Gall I,Billault A,Ougen P,Soularue P,Guillou S,Rigault P,Bui H,De Tand MF,Barillot E

更新日期：1992-06-01 00:00:00

abstract：:Plasma iron circulates bound to transferrin (Trf), which solubilizes the ferric ion and attenuates its reactivity. Diferric Trf interacts with cell-surface Trf receptor (Trfr) to undergo receptor-mediated endocytosis into specialized endosomes. Endosomal acidification leads to iron release, and iron is transported out...

journal_title：Nature genetics

authors： Levy JE,Jin O,Fujiwara Y,Kuo F,Andrews NC

更新日期：1999-04-01 00:00:00

abstract：:The majority of reported complex disease associations for common genetic variants have been identified through meta-analysis, a powerful approach that enables the use of large sample sizes while protecting against common artifacts due to population structure and repeated small-sample analyses sharing individual-level ...

journal_title：Nature genetics

authors： Liu DJ,Peloso GM,Zhan X,Holmen OL,Zawistowski M,Feng S,Nikpay M,Auer PL,Goel A,Zhang H,Peters U,Farrall M,Orho-Melander M,Kooperberg C,McPherson R,Watkins H,Willer CJ,Hveem K,Melander O,Kathiresan S,Abecasis GR

更新日期：2014-02-01 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：:Restless legs syndrome (RLS) is a frequent neurological disorder characterized by an imperative urge to move the legs during night, unpleasant sensation in the lower limbs, disturbed sleep and increased cardiovascular morbidity. In a genome-wide association study we found highly significant associations between RLS an...

journal_title：Nature genetics

authors： Winkelmann J,Schormair B,Lichtner P,Ripke S,Xiong L,Jalilzadeh S,Fulda S,Pütz B,Eckstein G,Hauk S,Trenkwalder C,Zimprich A,Stiasny-Kolster K,Oertel W,Bachmann CG,Paulus W,Peglau I,Eisensehr I,Montplaisir J,Turecki G

更新日期：2007-08-01 00:00:00

abstract：:Linkage disequilibrium (LD), the nonrandom occurrence of alleles in haplotypes, has long been of interest to population geneticists. Recently, the rapidly increasing availability of genomic polymorphism data has fueled interest in LD as a tool for fine-scale mapping, in particular for human disease loci. The chromosom...

journal_title：Nature genetics

authors： Nordborg M,Borevitz JO,Bergelson J,Berry CC,Chory J,Hagenblad J,Kreitman M,Maloof JN,Noyes T,Oefner PJ,Stahl EA,Weigel D

更新日期：2002-02-01 00:00:00

abstract：:To test the hypothesis that the human genome project will uncover many genes not previously discovered by sequencing of expressed sequence tags (ESTs), we designed and produced a set of microarrays using probes based on open reading frames (ORFs) in 350 Mb of finished and draft human sequence. Our approach aims to ide...

journal_title：Nature genetics

authors： Penn SG,Rank DR,Hanzel DK,Barker DL

更新日期：2000-11-01 00:00:00

abstract：:To evaluate the shared genetic etiology of type 2 diabetes (T2D) and coronary heart disease (CHD), we conducted a genome-wide, multi-ancestry study of genetic variation for both diseases in up to 265,678 subjects for T2D and 260,365 subjects for CHD. We identify 16 previously unreported loci for T2D and 1 locus for CH...

journal_title：Nature genetics

authors： Zhao W,Rasheed A,Tikkanen E,Lee JJ,Butterworth AS,Howson JMM,Assimes TL,Chowdhury R,Orho-Melander M,Damrauer S,Small A,Asma S,Imamura M,Yamauch T,Chambers JC,Chen P,Sapkota BR,Shah N,Jabeen S,Surendran P,Lu Y,Zh

更新日期：2017-10-01 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：:A high-density haplotype map recently enabled a genome-wide association study (GWAS) in a population of indica subspecies of Chinese rice landraces. Here we extend this methodology to a larger and more diverse sample of 950 worldwide rice varieties, including the Oryza sativa indica and Oryza sativa japonica subspecie...

journal_title：Nature genetics

authors： Huang X,Zhao Y,Wei X,Li C,Wang A,Zhao Q,Li W,Guo Y,Deng L,Zhu C,Fan D,Lu Y,Weng Q,Liu K,Zhou T,Jing Y,Si L,Dong G,Huang T,Lu T,Feng Q,Qian Q,Li J,Han B

更新日期：2011-12-04 00:00:00

abstract：:The genetic basis of most conditions characterized by congenital contractures is largely unknown. Here we show that mutations in the embryonic myosin heavy chain (MYH3) gene cause Freeman-Sheldon syndrome (FSS), one of the most severe multiple congenital contracture (that is, arthrogryposis) syndromes, and nearly one-...

journal_title：Nature genetics

authors： Toydemir RM,Rutherford A,Whitby FG,Jorde LB,Carey JC,Bamshad MJ

更新日期：2006-05-01 00:00:00

abstract：:The conversion of lineage-committed cells to induced pluripotent stem cells (iPSCs) by reprogramming is accompanied by a global remodeling of the epigenome, resulting in altered patterns of gene expression. Here we characterize the transcriptional reorganization of large intergenic non-coding RNAs (lincRNAs) that occu...

journal_title：Nature genetics

authors： Loewer S,Cabili MN,Guttman M,Loh YH,Thomas K,Park IH,Garber M,Curran M,Onder T,Agarwal S,Manos PD,Datta S,Lander ES,Schlaeger TM,Daley GQ,Rinn JL

更新日期：2010-12-01 00:00:00

abstract：:The discovery of Rous sarcoma virus (RSV) led to the identification of cellular Src (c-Src), a non-receptor tyrosine kinase, which has since been implicated in the development of numerous human cancers. c-Src has been found to be highly activated in colon cancers, particularly in those metastatic to the liver. Studies...

journal_title：Nature genetics

authors： Irby RB,Mao W,Coppola D,Kang J,Loubeau JM,Trudeau W,Karl R,Fujita DJ,Jove R,Yeatman TJ

更新日期：1999-02-01 00:00:00

abstract：:Plants intimately associate with diverse bacteria. Plant-associated bacteria have ostensibly evolved genes that enable them to adapt to plant environments. However, the identities of such genes are mostly unknown, and their functions are poorly characterized. We sequenced 484 genomes of bacterial isolates from roots o...

journal_title：Nature genetics

authors： Levy A,Salas Gonzalez I,Mittelviefhaus M,Clingenpeel S,Herrera Paredes S,Miao J,Wang K,Devescovi G,Stillman K,Monteiro F,Rangel Alvarez B,Lundberg DS,Lu TY,Lebeis S,Jin Z,McDonald M,Klein AP,Feltcher ME,Rio TG,Grant

更新日期：2017-12-18 00:00:00

abstract：:Despite advances in sequencing, the goal of obtaining a comprehensive view of genetic variation in populations is still far from reached. We sequenced 180 lines of A. thaliana from Sweden to obtain as complete a picture as possible of variation in a single region. Whereas simple polymorphisms in the unique portion of ...

journal_title：Nature genetics

authors： Long Q,Rabanal FA,Meng D,Huber CD,Farlow A,Platzer A,Zhang Q,Vilhjálmsson BJ,Korte A,Nizhynska V,Voronin V,Korte P,Sedman L,Mandáková T,Lysak MA,Seren Ü,Hellmann I,Nordborg M

更新日期：2013-08-01 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：:The progressive familial intrahepatic cholestases (PFIC) are a group of inherited disorders with severe cholestatic liver disease from early infancy. A subgroup characterized by normal serum cholesterol and gamma-glutamyltranspeptidase (gammaGT) levels is genetically heterogeneous with loci on chromosomes 2q (PFIC2) a...

journal_title：Nature genetics

authors： Strautnieks SS,Bull LN,Knisely AS,Kocoshis SA,Dahl N,Arnell H,Sokal E,Dahan K,Childs S,Ling V,Tanner MS,Kagalwalla AF,Németh A,Pawlowska J,Baker A,Mieli-Vergani G,Freimer NB,Gardiner RM,Thompson RJ

更新日期：1998-11-01 00:00:00