Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency.

abstract：:We conducted a genome-wide association study on 969 bladder cancer cases and 957 controls from Texas. For fast-track validation, we evaluated 60 SNPs in three additional US populations and validated the top SNP in nine European populations. A missense variant (rs2294008) in the PSCA gene showed consistent association ...

journal_title：Nature genetics

authors： Wu X,Ye Y,Kiemeney LA,Sulem P,Rafnar T,Matullo G,Seminara D,Yoshida T,Saeki N,Andrew AS,Dinney CP,Czerniak B,Zhang ZF,Kiltie AE,Bishop DT,Vineis P,Porru S,Buntinx F,Kellen E,Zeegers MP,Kumar R,Rudnai P,Gurzau

更新日期：2009-09-01 00:00:00

abstract：:Small nucleolar RNAs (snoRNAs) are conserved noncoding RNAs best studied as ribonucleoprotein (RNP) guides in RNA modification. To explore their role in cancer, we compared 5,473 tumor-normal genome pairs to identify snoRNAs with frequent copy number loss. The SNORD50A-SNORD50B snoRNA locus was deleted in 10-40% of 12...

journal_title：Nature genetics

authors： Siprashvili Z,Webster DE,Johnston D,Shenoy RM,Ungewickell AJ,Bhaduri A,Flockhart R,Zarnegar BJ,Che Y,Meschi F,Puglisi JD,Khavari PA

更新日期：2016-01-01 00:00:00

abstract：:We introduce an approach to identify disease-relevant tissues and cell types by analyzing gene expression data together with genome-wide association study (GWAS) summary statistics. Our approach uses stratified linkage disequilibrium (LD) score regression to test whether disease heritability is enriched in regions sur...

journal_title：Nature genetics

authors： Finucane HK,Reshef YA,Anttila V,Slowikowski K,Gusev A,Byrnes A,Gazal S,Loh PR,Lareau C,Shoresh N,Genovese G,Saunders A,Macosko E,Pollack S,Brainstorm Consortium.,Perry JRB,Buenrostro JD,Bernstein BE,Raychaudhuri S,M

更新日期：2018-04-01 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：:Wilson disease (WD) is an autosomal recessive disorder of copper transport which map to chromosome 13q14.3. In pursuit of the WD gene, we developed yeast artificial chromosome and cosmid contigs, and microsatellite markers which span the WD gene region. Linkage disequilibrium and haplotype analysis of 115 WD families ...

journal_title：Nature genetics

authors： Petrukhin K,Fischer SG,Pirastu M,Tanzi RE,Chernov I,Devoto M,Brzustowicz LM,Cayanis E,Vitale E,Russo JJ

更新日期：1993-12-01 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：: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：:We report the first annotated chromosome-level reference genome assembly for pea, Gregor Mendel's original genetic model. Phylogenetics and paleogenomics show genomic rearrangements across legumes and suggest a major role for repetitive elements in pea genome evolution. Compared to other sequenced Leguminosae genomes,...

journal_title：Nature genetics

authors： Kreplak J,Madoui MA,Cápal P,Novák P,Labadie K,Aubert G,Bayer PE,Gali KK,Syme RA,Main D,Klein A,Bérard A,Vrbová I,Fournier C,d'Agata L,Belser C,Berrabah W,Toegelová H,Milec Z,Vrána J,Lee H,Kougbeadjo A,Térézol

更新日期：2019-09-01 00:00:00

abstract：:Reduced lung function predicts mortality and is key to the diagnosis of chronic obstructive pulmonary disease (COPD). In a genome-wide association study in 400,102 individuals of European ancestry, we define 279 lung function signals, 139 of which are new. In combination, these variants strongly predict COPD in indepe...

journal_title：Nature genetics

authors： Shrine N,Guyatt AL,Erzurumluoglu AM,Jackson VE,Hobbs BD,Melbourne CA,Batini C,Fawcett KA,Song K,Sakornsakolpat P,Li X,Boxall R,Reeve NF,Obeidat M,Zhao JH,Wielscher M,Weiss S,Kentistou KA,Cook JP,Sun BB,Zhou J,Hu

更新日期：2019-03-01 00:00:00

abstract：:Studying consanguineous families with Ghosal hematodiaphyseal dysplasia syndrome (GHDD), a disorder of increased bone density, we identified mutations in TBXAS1, which encodes thromboxane synthase (TXAS). TXAS, an enzyme of the arachidonic acid cascade, produces thromboxane A(2) (TXA(2)). Platelets from subjects with ...

journal_title：Nature genetics

authors： Geneviève D,Proulle V,Isidor B,Bellais S,Serre V,Djouadi F,Picard C,Vignon-Savoye C,Bader-Meunier B,Blanche S,de Vernejoul MC,Legeai-Mallet L,Fischer AM,Le Merrer M,Dreyfus M,Gaussem P,Munnich A,Cormier-Daire V

更新日期：2008-03-01 00:00:00

abstract：:We previously mapped susceptibility to stroke to chromosome 5q12. Here we finely mapped this locus and tested it for association with stroke. We found the strongest association in the gene encoding phosphodiesterase 4D (PDE4D), especially for carotid and cardiogenic stroke, the forms of stroke related to atheroscleros...

journal_title：Nature genetics

authors： Gretarsdottir S,Thorleifsson G,Reynisdottir ST,Manolescu A,Jonsdottir S,Jonsdottir T,Gudmundsdottir T,Bjarnadottir SM,Einarsson OB,Gudjonsdottir HM,Hawkins M,Gudmundsson G,Gudmundsdottir H,Andrason H,Gudmundsdottir AS,Sigur

更新日期：2003-10-01 00:00:00

abstract：:The human gut microbiome plays a key role in human health 1 , but 16S characterization lacks quantitative functional annotation 2 . The fecal metabolome provides a functional readout of microbial activity and can be used as an intermediate phenotype mediating host-microbiome interactions 3 . In this comprehensive desc...

journal_title：Nature genetics

authors： Zierer J,Jackson MA,Kastenmüller G,Mangino M,Long T,Telenti A,Mohney RP,Small KS,Bell JT,Steves CJ,Valdes AM,Spector TD,Menni C

更新日期：2018-06-01 00:00:00

abstract：:Stem cell regulation is critical to the development of all multicellular organisms; in plants, stem cell niches reside in meristems. Two newly identified plant genes establish a novel signaling feedback from the incipient leaf primordia back to the meristem that is required to regulate stem cell proliferation. ...

journal_title：Nature genetics

authors： Strable J,Scanlon MJ

更新日期：2016-06-28 00:00:00

abstract：:In the past decade, bioinformatics has become an integral part of research and development in the biomedical sciences. Bioinformatics now has an essential role both in deciphering genomic, transcriptomic and proteomic data generated by high-throughput experimental technologies and in organizing information gathered fr...

journal_title：Nature genetics

authors： Kanehisa M,Bork P

更新日期：2003-03-01 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：: ...

journal_title：Nature genetics

authors： Sternberg PW

更新日期：2019-01-01 00:00:00

abstract：:Legionella pneumophila, the causative agent of Legionnaires' disease, replicates as an intracellular parasite of amoebae and persists in the environment as a free-living microbe. Here we have analyzed the complete genome sequences of L. pneumophila Paris (3,503,610 bp, 3,077 genes), an endemic strain that is predomina...

journal_title：Nature genetics

authors： Cazalet C,Rusniok C,Brüggemann H,Zidane N,Magnier A,Ma L,Tichit M,Jarraud S,Bouchier C,Vandenesch F,Kunst F,Etienne J,Glaser P,Buchrieser C

更新日期：2004-11-01 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：:Cells respond to stimuli by changes in various processes, including signaling pathways and gene expression. Efforts to identify components of these responses increasingly depend on mRNA profiling and genetic library screens. By comparing the results of these two assays across various stimuli, we found that genetic scr...

journal_title：Nature genetics

authors： Yeger-Lotem E,Riva L,Su LJ,Gitler AD,Cashikar AG,King OD,Auluck PK,Geddie ML,Valastyan JS,Karger DR,Lindquist S,Fraenkel E

更新日期：2009-03-01 00:00:00

abstract：:The epicardial epithelial-mesenchymal transition (EMT) is hypothesized to generate cardiovascular progenitor cells that differentiate into various cell types, including coronary smooth muscle and endothelial cells, perivascular and cardiac interstitial fibroblasts and cardiomyocytes. Here we show that an epicardial-sp...

journal_title：Nature genetics

authors： Martínez-Estrada OM,Lettice LA,Essafi A,Guadix JA,Slight J,Velecela V,Hall E,Reichmann J,Devenney PS,Hohenstein P,Hosen N,Hill RE,Muñoz-Chapuli R,Hastie ND

更新日期：2010-01-01 00:00:00

abstract：:The budding yeast Saccharomyces cerevisiae has been used by humans for millennia to make wine, beer and bread. More recently, it became a key model organism for studies of eukaryotic biology and for genomic analysis. However, relatively little is known about the natural lifestyle and population genetics of yeast. One ...

journal_title：Nature genetics

authors： Ruderfer DM,Pratt SC,Seidel HS,Kruglyak L

更新日期：2006-09-01 00:00:00

abstract：:Structural rearrangements have long been recognized as an important source of genetic variation, with implications in phenotypic diversity and disease, yet their detailed evolutionary dynamics remain elusive. Here we use long-read sequencing to generate end-to-end genome assemblies for 12 strains representing major su...

journal_title：Nature genetics

authors： Yue JX,Li J,Aigrain L,Hallin J,Persson K,Oliver K,Bergström A,Coupland P,Warringer J,Lagomarsino MC,Fischer G,Durbin R,Liti G

更新日期：2017-06-01 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 took advantage of overlapping interstitial deletions at chromosome 8p11-p12 in two individuals with contiguous gene syndromes and defined an interval of roughly 540 kb associated with a dominant form of Kallmann syndrome, KAL2. We establish here that loss-of-function mutations in FGFR1 underlie KAL2 whereas a gain-...

journal_title：Nature genetics

authors： Dodé C,Levilliers J,Dupont JM,De Paepe A,Le Dû N,Soussi-Yanicostas N,Coimbra RS,Delmaghani S,Compain-Nouaille S,Baverel F,Pêcheux C,Le Tessier D,Cruaud C,Delpech M,Speleman F,Vermeulen S,Amalfitano A,Bachelot Y,Boucha

更新日期：2003-04-01 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：:Numerous genetic loci have been associated with systolic blood pressure (SBP) and diastolic blood pressure (DBP) in Europeans. We now report genome-wide association studies of pulse pressure (PP) and mean arterial pressure (MAP). In discovery (N = 74,064) and follow-up studies (N = 48,607), we identified at genome-wid...

journal_title：Nature genetics

authors： Wain LV,Verwoert GC,O'Reilly PF,Shi G,Johnson T,Johnson AD,Bochud M,Rice KM,Henneman P,Smith AV,Ehret GB,Amin N,Larson MG,Mooser V,Hadley D,Dörr M,Bis JC,Aspelund T,Esko T,Janssens AC,Zhao JH,Heath S,Laan M,

更新日期：2011-09-11 00:00:00

abstract：:Oligonucleotide microarray (DNA chip)-based hybridization analysis is a promising new technology which potentially allows rapid and cost-effective screens for all possible mutations and sequence variations in genomic DNA. Here, I review current strategies and uses for DNA chip-based resequencing and mutational analysi...

journal_title：Nature genetics

authors： Hacia JG

更新日期：1999-01-01 00:00:00

abstract：:Copy number variations (CNVs) often include noncoding sequences and putative enhancers, but how these rearrangements induce disease is poorly understood. Here we investigate CNVs involving the regulatory landscape of IHH (encoding Indian hedgehog), which cause multiple, highly localized phenotypes including craniosyno...

journal_title：Nature genetics

authors： Will AJ,Cova G,Osterwalder M,Chan WL,Wittler L,Brieske N,Heinrich V,de Villartay JP,Vingron M,Klopocki E,Visel A,Lupiáñez DG,Mundlos S

更新日期：2017-10-01 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：:The concepts of gene therapy arose initially during the 1960s and early 1970s whilst the development of genetically marked cells lines and the clarification of mechanisms of cell transformation by the papaovaviruses polyoma and SV40 was in progress. With the arrival of recombinant DNA techniques, cloned genes became a...

journal_title：Nature genetics

authors： Friedmann T

更新日期：1992-10-01 00:00:00