Cultivated tomato clock runs slow.

abstract：:We performed a genome-wide association study of non-Hispanic, white individuals with fibrotic idiopathic interstitial pneumonias (IIPs; n = 1,616) and controls (n = 4,683), with follow-up replication analyses in 876 cases and 1,890 controls. We confirmed association with TERT at 5p15, MUC5B at 11p15 and the 3q26 regio...

journal_title：Nature genetics

authors： Fingerlin TE,Murphy E,Zhang W,Peljto AL,Brown KK,Steele MP,Loyd JE,Cosgrove GP,Lynch D,Groshong S,Collard HR,Wolters PJ,Bradford WZ,Kossen K,Seiwert SD,du Bois RM,Garcia CK,Devine MS,Gudmundsson G,Isaksson HJ,Kami

更新日期：2013-06-01 00:00:00

abstract：:Breast cancer is the most prevalent cancer in women, and over two-thirds of cases express estrogen receptor-α (ER-α, encoded by ESR1). Through a prospective clinical sequencing program for advanced cancers, we enrolled 11 patients with ER-positive metastatic breast cancer. Whole-exome and transcriptome analysis showed...

journal_title：Nature genetics

authors： Robinson DR,Wu YM,Vats P,Su F,Lonigro RJ,Cao X,Kalyana-Sundaram S,Wang R,Ning Y,Hodges L,Gursky A,Siddiqui J,Tomlins SA,Roychowdhury S,Pienta KJ,Kim SY,Roberts JS,Rae JM,Van Poznak CH,Hayes DF,Chugh R,Kunju LP,

更新日期：2013-12-01 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：:A major obstacle to stem-cell gene therapy rests in the inability to deliver a gene into a therapeutically relevant fraction of stem cells. One way to circumvent this obstacle is to use selection. Vectors containing two linked genes serve as the basis for selection, with one gene encoding a selectable product and the ...

journal_title：Nature genetics

authors： Jin L,Zeng H,Chien S,Otto KG,Richard RE,Emery DW,Blau CA

更新日期：2000-09-01 00:00:00

abstract：:Using next-generation sequencing of primary acute myeloid leukemia (AML) specimens, we identified to our knowledge the first unifying genetic network common to the two subgroups of KMT2A (MLL)-rearranged leukemia, namely having MLL fusions or partial tandem duplications. Within this network, we experimentally confirme...

journal_title：Nature genetics

authors： Lavallée VP,Baccelli I,Krosl J,Wilhelm B,Barabé F,Gendron P,Boucher G,Lemieux S,Marinier A,Meloche S,Hébert J,Sauvageau G

更新日期：2015-09-01 00:00:00

abstract：:MASA syndrome is a recessive X-linked disorder characterized by mental retardation, adducted thumbs, shuffling gait, aphasia and, in some cases, hydrocephalus. Since it has been shown that X-linked hydrocephalus can be caused by mutations in L1CAM, a neuronal cell adhesion molecule, we performed an L1CAM mutation anal...

journal_title：Nature genetics

authors： Vits L,Van Camp G,Coucke P,Fransen E,De Boulle K,Reyniers E,Korn B,Poustka A,Wilson G,Schrander-Stumpel C

更新日期：1994-07-01 00:00:00

abstract：:Communication between distal chromosomal elements is essential for control of many nuclear processes. For example, genes in higher eukaryotes often require distant enhancer sequences for high-level expression. The mechanisms proposed for long-range enhancer action fall into two basic categories. Non-contact models pro...

journal_title：Nature genetics

authors： Carter D,Chakalova L,Osborne CS,Dai YF,Fraser P

更新日期：2002-12-01 00:00:00

abstract：:Monogenic causes of autoimmunity provide key insights into the complex regulation of the immune system. We report a new monogenic cause of autoimmunity resulting from de novo germline activating STAT3 mutations in five individuals with a spectrum of early-onset autoimmune disease, including type 1 diabetes. These find...

journal_title：Nature genetics

authors： Flanagan SE,Haapaniemi E,Russell MA,Caswell R,Allen HL,De Franco E,McDonald TJ,Rajala H,Ramelius A,Barton J,Heiskanen K,Heiskanen-Kosma T,Kajosaari M,Murphy NP,Milenkovic T,Seppänen M,Lernmark Å,Mustjoki S,Otonkoski T

更新日期：2014-08-01 00:00:00

abstract：:Motile cilia induce fluid movement through their rhythmic beating activity. In mammals, the transcription factor Foxj1 has been implicated in motile cilia formation. Here we show that a zebrafish Foxj1 homolog, foxj1a, is a target of Hedgehog signaling in the floor plate. Loss of Foxj1a compromises the assembly of mot...

journal_title：Nature genetics

authors： Yu X,Ng CP,Habacher H,Roy S

更新日期：2008-12-01 00:00:00

abstract：:We report the 207-Mb genome sequence of the North American Arabidopsis lyrata strain MN47 based on 8.3× dideoxy sequence coverage. We predict 32,670 genes in this outcrossing species compared to the 27,025 genes in the selfing species Arabidopsis thaliana. The much smaller 125-Mb genome of A. thaliana, which diverged ...

journal_title：Nature genetics

authors： Hu TT,Pattyn P,Bakker EG,Cao J,Cheng JF,Clark RM,Fahlgren N,Fawcett JA,Grimwood J,Gundlach H,Haberer G,Hollister JD,Ossowski S,Ottilar RP,Salamov AA,Schneeberger K,Spannagl M,Wang X,Yang L,Nasrallah ME,Bergelson J

更新日期：2011-05-01 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：:Potato (Solanum tuberosum L.) is the most important tuber crop worldwide. Efforts are underway to transform the crop from a clonally propagated tetraploid into a seed-propagated, inbred-line-based hybrid, but this process requires a better understanding of potato genome. Here, we report the 1.67-Gb haplotype-resolved ...

journal_title：Nature genetics

authors： Zhou Q,Tang D,Huang W,Yang Z,Zhang Y,Hamilton JP,Visser RGF,Bachem CWB,Robin Buell C,Zhang Z,Zhang C,Huang S

更新日期：2020-10-01 00:00:00

abstract：:Manipulation or non-physiological embryo culture environments can lead to defective fetal programming in livestock. Our demonstration of reduced fetal methylation and expression of ovine IGF2R suggests pre-implantation embryo procedures may be vulnerable to epigenetic alterations in imprinted genes. This highlights th...

journal_title：Nature genetics

authors： Young LE,Fernandes K,McEvoy TG,Butterwith SC,Gutierrez CG,Carolan C,Broadbent PJ,Robinson JJ,Wilmut I,Sinclair KD

更新日期：2001-02-01 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：:Stress tolerance of the heart requires high-fidelity metabolic sensing by ATP-sensitive potassium (K(ATP)) channels that adjust membrane potential-dependent functions to match cellular energetic demand. Scanning of genomic DNA from individuals with heart failure and rhythm disturbances due to idiopathic dilated cardio...

journal_title：Nature genetics

authors： Bienengraeber M,Olson TM,Selivanov VA,Kathmann EC,O'Cochlain F,Gao F,Karger AB,Ballew JD,Hodgson DM,Zingman LV,Pang YP,Alekseev AE,Terzic A

更新日期：2004-04-01 00:00:00

abstract：:Most errors that arise during DNA replication can be corrected by DNA polymerase proofreading or by post-replication mismatch repair (MMR). Inactivation of both mutation-avoidance systems results in extremely high mutability that can lead to error catastrophe. High mutability and the likelihood of cancer can be caused...

journal_title：Nature genetics

authors： Jin YH,Clark AB,Slebos RJ,Al-Refai H,Taylor JA,Kunkel TA,Resnick MA,Gordenin DA

更新日期：2003-07-01 00:00:00

abstract：:CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1 and regulates expression of genes involved in cortical development such as RELN. Here we describe a previously unreported X-linked brain malformation syndrome caused by mutations of CASK. All five affected individuals with CAS...

journal_title：Nature genetics

authors： Najm J,Horn D,Wimplinger I,Golden JA,Chizhikov VV,Sudi J,Christian SL,Ullmann R,Kuechler A,Haas CA,Flubacher A,Charnas LR,Uyanik G,Frank U,Klopocki E,Dobyns WB,Kutsche K

更新日期：2008-09-01 00:00:00

abstract：:Autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a microvascular endotheliopathy with middle-age onset. In nine families, we identified heterozygous C-terminal frameshift mutations in TREX1, which encodes a 3'-5' exonuclease. These truncated proteins retain exonuclease activity but lose normal p...

journal_title：Nature genetics

authors： Richards A,van den Maagdenberg AM,Jen JC,Kavanagh D,Bertram P,Spitzer D,Liszewski MK,Barilla-Labarca ML,Terwindt GM,Kasai Y,McLellan M,Grand MG,Vanmolkot KR,de Vries B,Wan J,Kane MJ,Mamsa H,Schäfer R,Stam AH,Haan J

更新日期：2007-09-01 00:00:00

abstract：:Haematopoietic development is regulated by nuclear protein complexes that coordinate lineage-specific patterns of gene expression. Targeted mutagenesis in embryonic stem cells and mice has revealed roles for the X-linked gene Gata1 in erythrocyte and megakaryocyte differentiation. GATA-1 is the founding member of a fa...

journal_title：Nature genetics

authors： Nichols KE,Crispino JD,Poncz M,White JG,Orkin SH,Maris JM,Weiss MJ

更新日期：2000-03-01 00:00:00

abstract：:The Ras signal transduction pathway is often deregulated in human myeloid leukaemia. For example, activating point mutations in RAS genes are found in some patients with juvenile chronic myelogenous leukaemia (JCML), while other patients with JCML show loss of the neurofibromatosis type 1 (NF1) gene, a Ras GTPase acti...

journal_title：Nature genetics

authors： Largaespada DA,Brannan CI,Jenkins NA,Copeland NG

更新日期：1996-02-01 00:00:00

abstract：:After domestication, during a process of widespread range extension, barley adapted to a broad spectrum of agricultural environments. To explore how the barley genome responded to the environmental challenges it encountered, we sequenced the exomes of a collection of 267 georeferenced landraces and wild accessions. A ...

journal_title：Nature genetics

authors： Russell J,Mascher M,Dawson IK,Kyriakidis S,Calixto C,Freund F,Bayer M,Milne I,Marshall-Griffiths T,Heinen S,Hofstad A,Sharma R,Himmelbach A,Knauft M,van Zonneveld M,Brown JW,Schmid K,Kilian B,Muehlbauer GJ,Stein N,

更新日期：2016-09-01 00:00:00

abstract：:We conducted genome-wide association studies of non-Hodgkin lymphoma using Illumina HumanHap550 BeadChips to identify subtype-specific associations in follicular, diffuse large B-cell and chronic lymphocytic leukemia/small lymphocytic lymphomas. We found that rs6457327 on 6p21.33 was associated with susceptibility to ...

journal_title：Nature genetics

authors： Skibola CF,Bracci PM,Halperin E,Conde L,Craig DW,Agana L,Iyadurai K,Becker N,Brooks-Wilson A,Curry JD,Spinelli JJ,Holly EA,Riby J,Zhang L,Nieters A,Smith MT,Brown KM

更新日期：2009-08-01 00:00:00

abstract：:Phenotypic differences between closely related species are thought to arise primarily from changes in gene expression due to mutations in cis-regulatory sequences (enhancers). However, it has remained unclear how frequently mutations alter enhancer activity or create functional enhancers de novo. Here we use STARR-seq...

journal_title：Nature genetics

authors： Arnold CD,Gerlach D,Spies D,Matts JA,Sytnikova YA,Pagani M,Lau NC,Stark A

更新日期：2014-07-01 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：:A polymorphic CAG repeat was identified in the human alpha 1A voltage-dependent calcium channel subunit. To test the hypothesis that expansion of this CAG repeat could be the cause of an inherited progressive ataxia, we genotyped a large number of unrelated controls and ataxia patients. Eight unrelated patients with l...

journal_title：Nature genetics

authors： Zhuchenko O,Bailey J,Bonnen P,Ashizawa T,Stockton DW,Amos C,Dobyns WB,Subramony SH,Zoghbi HY,Lee CC

更新日期：1997-01-01 00:00:00

abstract：:Acute intermittent porphyria (AIP) is a human disease resulting from a dominantly inherited partial deficiency of the heme biosynthetic enzyme, porphobilinogen deaminase (PBGD). The frequency of the trait for AIP is 1/10,000 in most populations, but may be markedly higher (1/500) in psychiatric patients. The clinical ...

journal_title：Nature genetics

authors： Lindberg RL,Porcher C,Grandchamp B,Ledermann B,Bürki K,Brandner S,Aguzzi A,Meyer UA

更新日期：1996-02-01 00:00:00

abstract：:Pulmonary function measures reflect respiratory health and are used in the diagnosis of chronic obstructive pulmonary disease. We tested genome-wide association with forced expiratory volume in 1 second and the ratio of forced expiratory volume in 1 second to forced vital capacity in 48,201 individuals of European anc...

journal_title：Nature genetics

authors： Soler Artigas M,Loth DW,Wain LV,Gharib SA,Obeidat M,Tang W,Zhai G,Zhao JH,Smith AV,Huffman JE,Albrecht E,Jackson CM,Evans DM,Cadby G,Fornage M,Manichaikul A,Lopez LM,Johnson T,Aldrich MC,Aspelund T,Barroso I,Cam

更新日期：2011-09-25 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：:Notch and the m9/10 gene (groucho) of the Enhancer of split (E(spI)) complex are members of the "Notch group" of genes, which is required for a variety of cell fate choices in Drosophila. We have characterized human cDNA clones encoding a family of proteins, designated TLE, that are homologous to the E(spI) m9/10 gene...

journal_title：Nature genetics

authors： Stifani S,Blaumueller CM,Redhead NJ,Hill RE,Artavanis-Tsakonas S

更新日期：1992-10-01 00:00:00

abstract：:Differences in three-dimensional (3D) chromatin architecture can influence the integrity of topologically associating domains (TADs) and rewire specific enhancer-promoter interactions, impacting gene expression and leading to human disease. Here we investigate the 3D chromatin architecture in T cell acute lymphoblasti...

journal_title：Nature genetics

authors： Kloetgen A,Thandapani P,Ntziachristos P,Ghebrechristos Y,Nomikou S,Lazaris C,Chen X,Hu H,Bakogianni S,Wang J,Fu Y,Boccalatte F,Zhong H,Paietta E,Trimarchi T,Zhu Y,Van Vlierberghe P,Inghirami GG,Lionnet T,Aifantis I

更新日期：2020-04-01 00:00:00