C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.

abstract：:The fundamental aim of genetics is to understand how an organism's phenotype is determined by its genotype, and implicit in this is predicting how changes in DNA sequence alter phenotypes. A single network covering all the genes of an organism might guide such predictions down to the level of individual cells and tiss...

journal_title：Nature genetics

authors： Lee I,Lehner B,Crombie C,Wong W,Fraser AG,Marcotte EM

更新日期：2008-02-01 00:00:00

abstract：:Eosinophils are pleiotropic multifunctional leukocytes involved in initiation and propagation of inflammatory responses and thus have important roles in the pathogenesis of inflammatory diseases. Here we describe a genome-wide association scan for sequence variants affecting eosinophil counts in blood of 9,392 Iceland...

journal_title：Nature genetics

authors： Gudbjartsson DF,Bjornsdottir US,Halapi E,Helgadottir A,Sulem P,Jonsdottir GM,Thorleifsson G,Helgadottir H,Steinthorsdottir V,Stefansson H,Williams C,Hui J,Beilby J,Warrington NM,James A,Palmer LJ,Koppelman GH,Heinzmann

更新日期：2009-03-01 00:00:00

abstract：:In a study of human diversity at a highly variable locus, we have mapped the internal structures of tandem-repetitive alleles from different populations at the minisatellite MS205 (D16S309). The results give an unusually detailed view of the different allelic structures represented on modern human chromosomes, and of ...

journal_title：Nature genetics

authors： Armour JA,Anttinen T,May CA,Vega EE,Sajantila A,Kidd JR,Kidd KK,Bertranpetit J,Pääbo S,Jeffreys AJ

更新日期：1996-06-01 00:00:00

abstract：:We report that mutation in the gene for plectin, a cytoskeleton-membrane anchorage protein, is a cause of autosomal recessive muscular dystrophy associated with skin blistering (epidermolysis bullosa simplex). The evidence comes from absence of plectin by antibody staining in affected individuals from four families, s...

journal_title：Nature genetics

authors： Smith FJ,Eady RA,Leigh IM,McMillan JR,Rugg EL,Kelsell DP,Bryant SP,Spurr NK,Geddes JF,Kirtschig G,Milana G,de Bono AG,Owaribe K,Wiche G,Pulkkinen L,Uitto J,McLean WH,Lane EB

更新日期：1996-08-01 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：:Pediatric midline high-grade astrocytomas (mHGAs) are incurable with few treatment targets identified. Most tumors harbor mutations encoding p.Lys27Met in histone H3 variants. In 40 treatment-naive mHGAs, 39 analyzed by whole-exome sequencing, we find additional somatic mutations specific to tumor location. Gain-of-fu...

journal_title：Nature genetics

authors： Fontebasso AM,Papillon-Cavanagh S,Schwartzentruber J,Nikbakht H,Gerges N,Fiset PO,Bechet D,Faury D,De Jay N,Ramkissoon LA,Corcoran A,Jones DT,Sturm D,Johann P,Tomita T,Goldman S,Nagib M,Bendel A,Goumnerova L,Bowers

更新日期：2014-05-01 00:00:00

abstract：:Although nearly half of human melanomas harbor oncogenic BRAF(V600E) mutations, the genetic events that cooperate with these mutations to drive melanogenesis are still largely unknown. Here we show that Sleeping Beauty (SB) transposon-mediated mutagenesis drives melanoma progression in Braf(V600E) mutant mice and iden...

journal_title：Nature genetics

authors： Mann MB,Black MA,Jones DJ,Ward JM,Yew CC,Newberg JY,Dupuy AJ,Rust AG,Bosenberg MW,McMahon M,Print CG,Copeland NG,Jenkins NA

更新日期：2015-05-01 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：:Measurements of erythrocytes within the blood are important clinical traits and can indicate various hematological disorders. We report here genome-wide association studies (GWAS) for six erythrocyte traits, including hemoglobin concentration (Hb), hematocrit (Hct), mean corpuscular volume (MCV), mean corpuscular hemo...

journal_title：Nature genetics

authors： Ganesh SK,Zakai NA,van Rooij FJ,Soranzo N,Smith AV,Nalls MA,Chen MH,Kottgen A,Glazer NL,Dehghan A,Kuhnel B,Aspelund T,Yang Q,Tanaka T,Jaffe A,Bis JC,Verwoert GC,Teumer A,Fox CS,Guralnik JM,Ehret GB,Rice K,Feli

更新日期：2009-11-01 00:00:00

abstract：:Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of elbows and Achilles tendons, slowly progressive muscle wasting and weakness, and a cardiomyopathy with conduction blocks which is life-threatening. Two modes of inheritance exist, X-linked (OMIM 310300) and autosomal dominant (EDMD-AD; ...

journal_title：Nature genetics

authors： Bonne G,Di Barletta MR,Varnous S,Bécane HM,Hammouda EH,Merlini L,Muntoni F,Greenberg CR,Gary F,Urtizberea JA,Duboc D,Fardeau M,Toniolo D,Schwartz K

更新日期：1999-03-01 00:00:00

abstract：:Loss of tight association between epidermis and dermis underlies several blistering disorders and is frequently caused by impaired function of extracellular matrix (ECM) proteins. Here we describe a new protein in mouse, Fras1, that is specifically detected in a linear fashion underlying the epidermis and the basal su...

journal_title：Nature genetics

authors： Vrontou S,Petrou P,Meyer BI,Galanopoulos VK,Imai K,Yanagi M,Chowdhury K,Scambler PJ,Chalepakis G

更新日期：2003-06-01 00:00:00

abstract：:Acquired mutations in the hematopoietic transcription factor GATA binding protein-1 (GATA1) are found in megakaryoblasts from nearly all individuals with Down syndrome with transient myeloproliferative disorder (TMD, also called transient leukemia) and the related acute megakaryoblastic leukemia (DS-AMKL, also called ...

journal_title：Nature genetics

authors： Li Z,Godinho FJ,Klusmann JH,Garriga-Canut M,Yu C,Orkin SH

更新日期：2005-06-01 00:00:00

abstract：:Many individuals with multiple or large colorectal adenomas or early-onset colorectal cancer (CRC) have no detectable germline mutations in the known cancer predisposition genes. Using whole-genome sequencing, supplemented by linkage and association analysis, we identified specific heterozygous POLE or POLD1 germline ...

journal_title：Nature genetics

authors： Palles C,Cazier JB,Howarth KM,Domingo E,Jones AM,Broderick P,Kemp Z,Spain SL,Guarino E,Salguero I,Sherborne A,Chubb D,Carvajal-Carmona LG,Ma Y,Kaur K,Dobbins S,Barclay E,Gorman M,Martin L,Kovac MB,Humphray S,COR

更新日期：2013-02-01 00:00:00

abstract：:Many primary-tumor subregions have low levels of molecular oxygen, termed hypoxia. Hypoxic tumors are at elevated risk for local failure and distant metastasis, but the molecular hallmarks of tumor hypoxia remain poorly defined. To fill this gap, we quantified hypoxia in 8,006 tumors across 19 tumor types. In ten tumo...

journal_title：Nature genetics

authors： Bhandari V,Hoey C,Liu LY,Lalonde E,Ray J,Livingstone J,Lesurf R,Shiah YJ,Vujcic T,Huang X,Espiritu SMG,Heisler LE,Yousif F,Huang V,Yamaguchi TN,Yao CQ,Sabelnykova VY,Fraser M,Chua MLK,van der Kwast T,Liu SK,Bout

更新日期：2019-02-01 00:00:00

abstract：:Using transgenic mice expressing human cystatin C (encoded by CST3), we show that cystatin C binds soluble amyloid-beta peptide and inhibits cerebral amyloid deposition in amyloid-beta precursor protein (APP) transgenic mice. Cystatin C expression twice that of the endogenous mouse cystatin C was sufficient to substan...

journal_title：Nature genetics

authors： Mi W,Pawlik M,Sastre M,Jung SS,Radvinsky DS,Klein AM,Sommer J,Schmidt SD,Nixon RA,Mathews PM,Levy E

更新日期：2007-12-01 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 role of human chromosome 2 in type 1 diabetes was evaluated by analysing linkage and linkage disequilibrium at 21 microsatellite marker loci, using 348 affected sibpair families and 107 simplex families. The microsatellite D2S152 was linked to, and associated with, disease in families from three different populati...

journal_title：Nature genetics

authors： Copeman JB,Cucca F,Hearne CM,Cornall RJ,Reed PW,Rønningen KS,Undlien DE,Nisticò L,Buzzetti R,Tosi R

更新日期：1995-01-01 00:00:00

abstract：:Chromosome region 1q21.1 contains extensive and complex low-copy repeats, and copy number variants (CNVs) in this region have recently been reported in association with congenital heart defects, developmental delay, schizophrenia and related psychoses. We describe 21 probands with the 1q21.1 microdeletion and 15 proba...

journal_title：Nature genetics

authors： Brunetti-Pierri N,Berg JS,Scaglia F,Belmont J,Bacino CA,Sahoo T,Lalani SR,Graham B,Lee B,Shinawi M,Shen J,Kang SH,Pursley A,Lotze T,Kennedy G,Lansky-Shafer S,Weaver C,Roeder ER,Grebe TA,Arnold GL,Hutchison T,Rei

更新日期：2008-12-01 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：:Because only a small fraction of asbestos-exposed individuals develop malignant mesothelioma, and because mesothelioma clustering is observed in some families, we searched for genetic predisposing factors. We discovered germline mutations in the gene encoding BRCA1 associated protein-1 (BAP1) in two families with a hi...

journal_title：Nature genetics

authors： Testa JR,Cheung M,Pei J,Below JE,Tan Y,Sementino E,Cox NJ,Dogan AU,Pass HI,Trusa S,Hesdorffer M,Nasu M,Powers A,Rivera Z,Comertpay S,Tanji M,Gaudino G,Yang H,Carbone M

更新日期：2011-08-28 00:00:00

abstract：:The amnionless gene, Amn, on mouse chromosome 12 encodes a type I transmembrane protein that is expressed in the extraembryonic visceral layer during gastrulation. Mice homozygous with respect to the amn mutation generated by a transgene insertion have no amnion. The embryos are severely compromised, surviving to the ...

journal_title：Nature genetics

authors： Tanner SM,Aminoff M,Wright FA,Liyanarachchi S,Kuronen M,Saarinen A,Massika O,Mandel H,Broch H,de la Chapelle A

更新日期：2003-03-01 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：:In the version of this article initially published, affiliation 38 incorrectly read "ICNU-Nephrology and Urology Department, Barcelona, Spain"; "Renal Division, Hospital Clinic, IDIBAPS, University of Barcelona, Barcelona, Spain" is the correct affiliation. The error has been corrected in the HTML and PDF versions of ...

journal_title：Nature genetics

authors： Verbitsky M,Westland R,Perez A,Kiryluk K,Liu Q,Krithivasan P,Mitrotti A,Fasel DA,Batourina E,Sampson MG,Bodria M,Werth M,Kao C,Martino J,Capone VP,Vivante A,Shril S,Kil BH,Marasa M,Zhang JY,Na YJ,Lim TY,Ahram

更新日期：2019-04-01 00:00:00

abstract：:A genome-wide study of fasting insulin, HDL cholesterol and triglycerides, designed to depict insulin resistance, identified 53 independent loci associated with a limited capacity to store fat in a healthy way. The increased power of this multitrait approach provides insights into an otherwise difficult-to-grasp pheno...

journal_title：Nature genetics

authors： Heid IM,Winkler TW

更新日期：2016-12-28 00:00:00

abstract：:Densely methylated DNA associates with transcriptionally repressive chromatin characterized by the presence of underacetylated histones. Recently, these two epigenetic processes have been dynamically linked. The methyl-CpG-binding protein MeCP2 appears to reside in a complex with histone deacetylase activity. MeCP2 ca...

journal_title：Nature genetics

authors： Cameron EE,Bachman KE,Myöhänen S,Herman JG,Baylin SB

更新日期：1999-01-01 00:00:00

abstract：:Perturbations to mammalian SWI/SNF (mSWI/SNF or BAF) complexes contribute to more than 20% of human cancers, with driving roles first identified in malignant rhabdoid tumor, an aggressive pediatric cancer characterized by biallelic inactivation of the core BAF complex subunit SMARCB1 (BAF47). However, the mechanism by...

journal_title：Nature genetics

authors： Nakayama RT,Pulice JL,Valencia AM,McBride MJ,McKenzie ZM,Gillespie MA,Ku WL,Teng M,Cui K,Williams RT,Cassel SH,Qing H,Widmer CJ,Demetri GD,Irizarry RA,Zhao K,Ranish JA,Kadoch C

更新日期：2017-11-01 00:00:00

abstract：:Genome-wide association studies (GWAS) have identified thousands of genetic variants associated with human complex traits. However, the genes or functional DNA elements through which these variants exert their effects on the traits are often unknown. We propose a method (called SMR) that integrates summary-level data ...

journal_title：Nature genetics

authors： Zhu Z,Zhang F,Hu H,Bakshi A,Robinson MR,Powell JE,Montgomery GW,Goddard ME,Wray NR,Visscher PM,Yang J

更新日期：2016-05-01 00:00:00

abstract：:We performed a whole-genome association analysis of lung tumor susceptibility using dense SNP maps ( approximately 1 SNP per 20 kb) in inbred mice. We reproduced the pulmonary adenoma susceptibility 1 (Pas1) locus identified in previous linkage studies and further narrowed this quantitative trait locus (QTL) to a regi...

journal_title：Nature genetics

authors： Liu P,Wang Y,Vikis H,Maciag A,Wang D,Lu Y,Liu Y,You M

更新日期：2006-08-01 00:00:00

abstract：:Accumulations of iron are often detected in the brains of people suffering from neurodegenerative diseases. But it is often not known whether such accumulations contribute directly to disease progression. The identification of the genes mutated in two such disorders suggests that errors in iron metabolism do indeed ha...

journal_title：Nature genetics

authors： Rouault TA

更新日期：2001-08-01 00:00:00

abstract：:Through whole-genome sequencing of 2,230 Icelanders, we detected a rare nonsynonymous SNP (minor allele frequency = 0.55%) in the C3 gene encoding a p.Lys155Gln substitution in complement factor 3, which, following imputation into a set of Icelandic cases with age-related macular degeneration (AMD) and controls, assoc...

journal_title：Nature genetics

authors： Helgason H,Sulem P,Duvvari MR,Luo H,Thorleifsson G,Stefansson H,Jonsdottir I,Masson G,Gudbjartsson DF,Walters GB,Magnusson OT,Kong A,Rafnar T,Kiemeney LA,Schoenmaker-Koller FE,Zhao L,Boon CJ,Song Y,Fauser S,Pei M,

更新日期：2013-11-01 00:00:00