Identification of novel genes, SYT and SSX, involved in the t(X;18)(p11.2;q11.2) translocation found in human synovial sarcoma.

abstract：:In the version of this article initially published, '+' and '-' labels were missing from the graph keys at the bottom of Fig. 8d. The error has been corrected in the HTML and PDF versions of the article. ...

journal_title：Nature genetics

authors： Fanucchi S,Fok ET,Dalla E,Shibayama Y,Börner K,Chang EY,Stoychev S,Imakaev M,Grimm D,Wang KC,Li G,Sung WK,Mhlanga MM

更新日期：2019-02-01 00:00:00

abstract：:We have developed a human artificial episomal chromosome (HAEC) system, based on the latent replication origin of the large herpes Epstein-Barr virus, for the propagation and stable maintenance of DNA as circular minichromosomes in human cells. Individual HAECs carried human genomic inserts ranging from 60-330 kb and ...

journal_title：Nature genetics

authors： Sun TQ,Fenstermacher DA,Vos JM

更新日期：1994-09-01 00:00:00

abstract：:Hundreds of genes reside in structurally complex, poorly understood regions of the human genome. One such region contains the three amylase genes (AMY2B, AMY2A and AMY1) responsible for digesting starch into sugar. Copy number of AMY1 is reported to be the largest genomic influence on obesity, although genome-wide ass...

journal_title：Nature genetics

authors： Usher CL,Handsaker RE,Esko T,Tuke MA,Weedon MN,Hastie AR,Cao H,Moon JE,Kashin S,Fuchsberger C,Metspalu A,Pato CN,Pato MT,McCarthy MI,Boehnke M,Altshuler DM,Frayling TM,Hirschhorn JN,McCarroll SA

更新日期：2015-08-01 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 CRISPR-Cas9 system enables global screens of gene function with high sensitivity and specificity, but off-target effects have been reported for CRISPR guide RNAs targeting genes that are amplified at high copy number. A new study describes a computational approach to correct for this copy number effect, increasing...

journal_title：Nature genetics

authors： Shen JP,Ideker T

更新日期：2017-11-29 00:00:00

abstract：:A new study successfully applies complementary whole-genome sequencing and imputation approaches to establish robust disease associations in an isolated population. This strategy is poised to help elucidate the role of variants at the low end of the allele frequency spectrum in the genetic architecture of complex trai...

journal_title：Nature genetics

authors： Zeggini E

更新日期：2011-03-29 00:00:00

abstract：:In mouse and man, deletions of specific regions of the Y chromosome have been linked to early failure of spermatogenesis and consequent sterility; the Y chromosomal gene(s) with this essential early role in spermatogenesis have not been identified. The partial deletion of the mouse Y short arm (the Sxrb deletion) that...

journal_title：Nature genetics

authors： Mazeyrat S,Saut N,Grigoriev V,Mahadevaiah SK,Ojarikre OA,Rattigan A,Bishop C,Eicher EM,Mitchell MJ,Burgoyne PS

更新日期：2001-09-01 00:00:00

abstract：:During vertebrate embryogenesis, myogenic precursor cells of limb muscles delaminate from the ventro-lateral edge of the somitic dermomyotome and migrate to the limb buds, where they congregate into dorsal and ventral muscle masses. It has been proposed that the surrounding connective tissue controls muscle pattern fo...

journal_title：Nature genetics

authors： Schäfer K,Braun T

更新日期：1999-10-01 00:00:00

abstract：:No major predisposition gene for familial myeloproliferative neoplasms (MPN) has been identified. Here we demonstrate that the autosomal dominant transmission of a 700-kb duplication in four genetically related families predisposes to myeloid malignancies, including MPN, frequently progressing to leukemia. Using induc...

journal_title：Nature genetics

authors： Saliba J,Saint-Martin C,Di Stefano A,Lenglet G,Marty C,Keren B,Pasquier F,Valle VD,Secardin L,Leroy G,Mahfoudhi E,Grosjean S,Droin N,Diop M,Dessen P,Charrier S,Palazzo A,Merlevede J,Meniane JC,Delaunay-Darivon C,F

更新日期：2015-10-01 00:00:00

abstract：:An earlier search in the human, mouse and rat genomes for sequences that are 100% conserved in orthologous segments and > or = 200 bp in length identified 481 distinct sequences. These human-mouse-rat sequences, which represent ultraconserved elements (UCEs), are believed to be important for functions involving DNA bi...

journal_title：Nature genetics

authors： Derti A,Roth FP,Church GM,Wu CT

更新日期：2006-10-01 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：:Extremes of the electrocardiographic QT interval, a measure of cardiac repolarization, are associated with increased cardiovascular mortality. We identified a common genetic variant influencing this quantitative trait through a genome-wide association study on 200 subjects at the extremes of a population-based QT inte...

journal_title：Nature genetics

authors： Arking DE,Pfeufer A,Post W,Kao WH,Newton-Cheh C,Ikeda M,West K,Kashuk C,Akyol M,Perz S,Jalilzadeh S,Illig T,Gieger C,Guo CY,Larson MG,Wichmann HE,Marbán E,O'Donnell CJ,Hirschhorn JN,Kääb S,Spooner PM,Meitinger T

更新日期：2006-06-01 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

abstract：:Individuals with hereditary hemochromatosis suffer from systemic iron overload due to duodenal hyperabsorption. Most cases arise from a founder mutation in HFE (845G-->A; ref. 2) that results in the amino-acid substitution C282Y and prevents the association of HFE with beta2-microglobulin. Mice homozygous with respect...

journal_title：Nature genetics

authors： Muckenthaler M,Roy CN,Custodio AO,Miñana B,deGraaf J,Montross LK,Andrews NC,Hentze MW

更新日期：2003-05-01 00:00:00

abstract：:Graves' disease is a common autoimmune disorder characterized by thyroid stimulating hormone receptor autoantibodies (TRAb) and hyperthyroidism. To investigate the genetic architecture of Graves' disease, we conducted a genome-wide association study in 1,536 individuals with Graves' disease (cases) and 1,516 controls....

journal_title：Nature genetics

authors： Chu X,Pan CM,Zhao SX,Liang J,Gao GQ,Zhang XM,Yuan GY,Li CG,Xue LQ,Shen M,Liu W,Xie F,Yang SY,Wang HF,Shi JY,Sun WW,Du WH,Zuo CL,Shi JX,Liu BL,Guo CC,Zhan M,Gu ZH,Zhang XN,Sun F,Wang ZQ,Song ZY,Zou CY

更新日期：2011-08-14 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：:Lafora's disease (LD; OMIM 254780) is an autosomal recessive form of progressive myoclonus epilepsy characterized by seizures and cumulative neurological deterioration. Onset occurs during late childhood and usually results in death within ten years of the first symptoms. With few exceptions, patients follow a homogen...

journal_title：Nature genetics

authors： Minassian BA,Lee JR,Herbrick JA,Huizenga J,Soder S,Mungall AJ,Dunham I,Gardner R,Fong CY,Carpenter S,Jardim L,Satishchandra P,Andermann E,Snead OC 3rd,Lopes-Cendes I,Tsui LC,Delgado-Escueta AV,Rouleau GA,Scherer SW

更新日期：1998-10-01 00:00:00

abstract：:Incorporation of selenocysteine (Sec), through recoding of the UGA stop codon, creates a unique class of proteins. Mice lacking tRNA(Sec) die in utero, but the in vivo role of other components involved in selenoprotein synthesis is unknown, and Sec incorporation defects have not been described in humans. Deiodinases (...

journal_title：Nature genetics

authors： Dumitrescu AM,Liao XH,Abdullah MS,Lado-Abeal J,Majed FA,Moeller LC,Boran G,Schomburg L,Weiss RE,Refetoff S

更新日期：2005-11-01 00:00:00

abstract：:Hypotrichosis simplex is a group of nonsyndromic human alopecias. We mapped an autosomal recessive form of this disorder to chromosome 13q14.11-13q21.33, and identified homozygous truncating mutations in P2RY5, which encodes an orphan G protein-coupled receptor. Furthermore, we identified oleoyl-L-alpha-lysophosphatid...

journal_title：Nature genetics

authors： Pasternack SM,von Kügelgen I,Al Aboud K,Lee YA,Rüschendorf F,Voss K,Hillmer AM,Molderings GJ,Franz T,Ramirez A,Nürnberg P,Nöthen MM,Betz RC

更新日期：2008-03-01 00:00:00

abstract：:Integrity of the blood vessel wall is essential for vascular homeostasis and organ function. A dynamic balance between endothelial cell survival and apoptosis contributes to this integrity during vascular development and pathological angiogenesis. The genetic and molecular mechanisms regulating these processes in vivo...

journal_title：Nature genetics

authors： Santoro MM,Samuel T,Mitchell T,Reed JC,Stainier DY

更新日期：2007-11-01 00:00:00

abstract：:To identify new susceptibility loci for psoriasis, we undertook a genome-wide association study of 594,224 SNPs in 2,622 individuals with psoriasis and 5,667 controls. We identified associations at eight previously unreported genomic loci. Seven loci harbored genes with recognized immune functions (IL28RA, REL, IFIH1,...

journal_title：Nature genetics

authors： Genetic Analysis of Psoriasis Consortium & the Wellcome Trust Case Control Consortium 2.,Strange A,Capon F,Spencer CC,Knight J,Weale ME,Allen MH,Barton A,Band G,Bellenguez C,Bergboer JG,Blackwell JM,Bramon E,Bumpstead SJ,Casa

更新日期：2010-11-01 00:00:00

abstract：:A genome-wide association screen for primary biliary cirrhosis risk alleles was performed in an Italian cohort. The results from the Italian cohort replicated IL12A and IL12RB associations, and a combined meta-analysis using a Canadian dataset identified newly associated loci at SPIB (P = 7.9 x 10(-11), odds ratio (OR...

journal_title：Nature genetics

authors： Liu X,Invernizzi P,Lu Y,Kosoy R,Lu Y,Bianchi I,Podda M,Xu C,Xie G,Macciardi F,Selmi C,Lupoli S,Shigeta R,Ransom M,Lleo A,Lee AT,Mason AL,Myers RP,Peltekian KM,Ghent CN,Bernuzzi F,Zuin M,Rosina F,Borghesio E

更新日期：2010-08-01 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：:1 alpha,25-Dihydroxyvitamin D3[1 alpha,25(OH)2D3], an active form of vitamin D, has roles in many biological phenomena such as calcium homeostasis and bone formation, which are thought to be mediated by the 1 alpha,25(OH)2D3 receptor (VDR), a member of the nuclear hormone receptor superfamily. However, the molecular b...

journal_title：Nature genetics

authors： Yoshizawa T,Handa Y,Uematsu Y,Takeda S,Sekine K,Yoshihara Y,Kawakami T,Arioka K,Sato H,Uchiyama Y,Masushige S,Fukamizu A,Matsumoto T,Kato S

更新日期：1997-08-01 00:00:00

abstract：:The molecular mechanisms underlying angioimmunoblastic T cell lymphoma (AITL), a common type of mature T cell lymphoma of poor prognosis, are largely unknown. Here we report a frequent somatic mutation in RHOA (encoding p.Gly17Val) using exome and transcriptome sequencing of samples from individuals with AITL. Further...

journal_title：Nature genetics

authors： Yoo HY,Sung MK,Lee SH,Kim S,Lee H,Park S,Kim SC,Lee B,Rho K,Lee JE,Cho KH,Kim W,Ju H,Kim J,Kim SJ,Kim WS,Lee S,Ko YH

更新日期：2014-04-01 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：:We present an approximate conditional and joint association analysis that can use summary-level statistics from a meta-analysis of genome-wide association studies (GWAS) and estimated linkage disequilibrium (LD) from a reference sample with individual-level genotype data. Using this method, we analyzed meta-analysis s...

journal_title：Nature genetics

authors： Yang J,Ferreira T,Morris AP,Medland SE,Genetic Investigation of ANthropometric Traits (GIANT) Consortium.,DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium.,Madden PA,Heath AC,Martin NG,Montgomery GW,Weedon MN,Lo

更新日期：2012-03-18 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：:To search for sequence variants conferring risk of nonmedullary thyroid cancer, we focused our analysis on 22 SNPs with a P < 5 × 10(-8) in a genome-wide association study on levels of thyroid stimulating hormone (TSH) in 27,758 Icelanders. Of those, rs965513 has previously been shown to associate with thyroid cancer....

journal_title：Nature genetics

authors： Gudmundsson J,Sulem P,Gudbjartsson DF,Jonasson JG,Masson G,He H,Jonasdottir A,Sigurdsson A,Stacey SN,Johannsdottir H,Helgadottir HT,Li W,Nagy R,Ringel MD,Kloos RT,de Visser MC,Plantinga TS,den Heijer M,Aguillo E,Pan

更新日期：2012-01-22 00:00:00

abstract：:The lipodystrophies are a group of disorders characterized by the absence or reduction of subcutaneous adipose tissue. Partial lipodystrophy (PLD; MIM 151660) is an inherited condition in which a regional (trunk and limbs) loss of fat occurs during the peri-pubertal phase. Additionally, variable degrees of resistance ...

journal_title：Nature genetics

authors： Shackleton S,Lloyd DJ,Jackson SN,Evans R,Niermeijer MF,Singh BM,Schmidt H,Brabant G,Kumar S,Durrington PN,Gregory S,O'Rahilly S,Trembath RC

更新日期：2000-02-01 00:00:00