Bridging high-throughput genetic and transcriptional data reveals cellular responses to alpha-synuclein toxicity.

abstract：:Novel approaches to the structural and functional analysis of mammalian chromosomes would be possible if the gross structure of the chromosomes in living cells could be engineered. Controlled modifications can be engineered by conventional targeting techniques based on homologous recombination. Large but uncontrolled ...

journal_title：Nature genetics

authors： Itzhaki JE,Barnett MA,MacCarthy AB,Buckle VJ,Brown WR,Porter AC

更新日期：1992-12-01 00:00:00

abstract：:Systemic lupus erythematosus (SLE) is a highly prevalent human autoimmune diseases that causes progressive glomerulonephritis, arthritis and an erythematoid rash. Mice deficient in deoxyribonuclease I (Dnase1) develop an SLE-like syndrome. Here we describe two patients with a heterozygous nonsense mutation in exon 2 o...

journal_title：Nature genetics

authors： Yasutomo K,Horiuchi T,Kagami S,Tsukamoto H,Hashimura C,Urushihara M,Kuroda Y

更新日期：2001-08-01 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：:Imprinted genes show differential expression between maternal and paternal alleles as a consequence of epigenetic modification that can result in 'parent-of-origin' effects on phenotypic traits. There is increasing evidence from mouse and human studies that imprinted genes may influence behavior and cognitive function...

journal_title：Nature genetics

authors： Davies W,Isles A,Smith R,Karunadasa D,Burrmann D,Humby T,Ojarikre O,Biggin C,Skuse D,Burgoyne P,Wilkinson L

更新日期：2005-06-01 00:00:00

abstract：:Low-coverage whole-genome sequencing followed by imputation has been proposed as a cost-effective genotyping approach for disease and population genetics studies. However, its competitiveness against SNP arrays is undermined because current imputation methods are computationally expensive and unable to leverage large ...

journal_title：Nature genetics

authors： Rubinacci S,Ribeiro DM,Hofmeister RJ,Delaneau O

更新日期：2021-01-01 00:00:00

abstract：:Prader-Willi syndrome (PWS) is a neurogenetic disease characterized by infantile hypotonia, gonadal hypoplasia, obsessive behaviour and neonatal feeding difficulties followed by hyperphagia, leading to profound obesity. PWS is due to a lack of paternal genetic information at 15q11-q13 (ref. 2). Five imprinted, paterna...

journal_title：Nature genetics

authors： Bielinska B,Blaydes SM,Buiting K,Yang T,Krajewska-Walasek M,Horsthemke B,Brannan CI

更新日期：2000-05-01 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：:Recovery from blood loss requires a greatly enhanced supply of iron to support expanded erythropoiesis. After hemorrhage, suppression of the iron-regulatory hormone hepcidin allows increased iron absorption and mobilization from stores. We identified a new hormone, erythroferrone (ERFE), that mediates hepcidin suppres...

journal_title：Nature genetics

authors： Kautz L,Jung G,Valore EV,Rivella S,Nemeth E,Ganz T

更新日期：2014-07-01 00:00:00

abstract：:Immunotherapy for metastatic colorectal cancer is effective only for mismatch repair-deficient tumors with high microsatellite instability that demonstrate immune infiltration, suggesting that tumor cells can determine their immune microenvironment. To understand this cross-talk, we analyzed the transcriptome of 91,10...

journal_title：Nature genetics

authors： Lee HO,Hong Y,Etlioglu HE,Cho YB,Pomella V,Van den Bosch B,Vanhecke J,Verbandt S,Hong H,Min JW,Kim N,Eum HH,Qian J,Boeckx B,Lambrechts D,Tsantoulis P,De Hertogh G,Chung W,Lee T,An M,Shin HT,Joung JG,Jung MH,

更新日期：2020-06-01 00:00:00

abstract：:Characterizing fine-scale variation in human recombination rates is important, both to deepen understanding of the recombination process and to aid the design of disease association studies. Current genetic maps show that rates vary on a megabase scale, but studying finer-scale variation using pedigrees is difficult. ...

journal_title：Nature genetics

authors： Crawford DC,Bhangale T,Li N,Hellenthal G,Rieder MJ,Nickerson DA,Stephens M

更新日期：2004-07-01 00:00:00

abstract：:Cell size is determined by the balance between protein synthesis and degradation. This equilibrium is affected by hormones, nutrients, energy levels, mechanical stress and cytokines. Mutations that inactivate myostatin lead to excessive muscle growth in animals and humans, but the signals and pathways responsible for ...

journal_title：Nature genetics

authors： Sartori R,Schirwis E,Blaauw B,Bortolanza S,Zhao J,Enzo E,Stantzou A,Mouisel E,Toniolo L,Ferry A,Stricker S,Goldberg AL,Dupont S,Piccolo S,Amthor H,Sandri M

更新日期：2013-11-01 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：:Protein-protein interactions may impose constraints on both structural and regulatory evolution. Here we show that protein-protein interactions are negatively associated with evolutionary variation in gene expression. Moreover, interacting proteins have similar levels of variation in expression, and their expression l...

journal_title：Nature genetics

authors： Lemos B,Meiklejohn CD,Hartl DL

更新日期：2004-10-01 00:00:00

abstract：:All red/green colour vision defects described so far have been associated with gross rearrangements within the red/green opsin gene array (Xq28). We now describe a male with severe deuteranomaly without such a rearrangement. A substitution of a highly conserved cysteine by arginine at position 203 in the green opsins ...

journal_title：Nature genetics

authors： Winderickx J,Sanocki E,Lindsey DT,Teller DY,Motulsky AG,Deeb SS

更新日期：1992-07-01 00:00:00

abstract：:The cardiac homeobox protein Nkx2-5 is essential in cardiac development, and mutations in Csx (which encodes Nkx2-5) cause various congenital heart diseases. Using the yeast two-hybrid system with Nkx2-5 as the 'bait', we isolated the T-box-containing transcription factor Tbx5; mutations in TBX5 cause heart and limb m...

journal_title：Nature genetics

authors： Hiroi Y,Kudoh S,Monzen K,Ikeda Y,Yazaki Y,Nagai R,Komuro I

更新日期：2001-07-01 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：:Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis (Ollier and Maffucci diseases). Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to chondrosarcoma. The extent of skeletal inv...

journal_title：Nature genetics

authors： Hopyan S,Gokgoz N,Poon R,Gensure RC,Yu C,Cole WG,Bell RS,Jüppner H,Andrulis IL,Wunder JS,Alman BA

更新日期：2002-03-01 00:00:00

abstract：:Genetic robustness characterizes the constancy of the phenotype in face of heritable perturbations. Previous investigations have used comprehensive single and double gene knockouts to study gene essentiality and pairwise gene interactions in the yeast Saccharomyces cerevisiae. Here we conduct an in silico multiple kno...

journal_title：Nature genetics

authors： Deutscher D,Meilijson I,Kupiec M,Ruppin E

更新日期：2006-09-01 00:00:00

abstract：: ...

journal_title：Nature genetics

authors： Werner B,Williams MJ,Barnes CP,Graham TA,Sottoriva A

更新日期：2018-12-01 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：:Only a few mutations in regulatory elements that cause human disease have been identified thus far. A new report identifies cis-regulatory mutations that abolish the activity of a developmental enhancer, thereby causing pancreatic agenesis. ...

journal_title：Nature genetics

authors： Gordon CT,Lyonnet S

更新日期：2014-01-01 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：:Breast carcinoma is the most common malignancy among women in developed countries. Because family history remains the strongest single predictor of breast cancer risk, attention has focused on the role of highly penetrant, dominantly inherited genes in cancer-prone kindreds (1). BRCA1 was localized to chromosome 17 th...

journal_title：Nature genetics

authors： Tavtigian SV,Simard J,Rommens J,Couch F,Shattuck-Eidens D,Neuhausen S,Merajver S,Thorlacius S,Offit K,Stoppa-Lyonnet D,Belanger C,Bell R,Berry S,Bogden R,Chen Q,Davis T,Dumont M,Frye C,Hattier T,Jammulapati S,Jane

更新日期：1996-03-01 00:00:00

abstract：:The most characteristic features of bipolar affective disorder (manic-depressive illness) are episodes of mania (bipolar I, BPI) or hypomania (bipolar II, BPII) interspersed with periods of depression. Manic-depressive illness afflicts about one percent of the population, and if untreated, is associated with an approx...

journal_title：Nature genetics

authors： Ginns EI,Ott J,Egeland JA,Allen CR,Fann CS,Pauls DL,Weissenbachoff J,Carulli JP,Falls KM,Keith TP,Paul SM

更新日期：1996-04-01 00:00:00

abstract：:Many genes associated with CpG islands undergo de novo methylation in cancer. Studies have suggested that the pattern of this modification may be partially determined by an instructive mechanism that recognizes specifically marked regions of the genome. Using chromatin immunoprecipitation analysis, here we show that g...

journal_title：Nature genetics

authors： Schlesinger Y,Straussman R,Keshet I,Farkash S,Hecht M,Zimmerman J,Eden E,Yakhini Z,Ben-Shushan E,Reubinoff BE,Bergman Y,Simon I,Cedar H

更新日期：2007-02-01 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：:Family, twin and adoption studies provide evidence for a substantial genetic component underlying individual differences in general intelligence, specific cognitive abilities and susceptibility to psychopathologies related to fear-inducing events. Contextual fear conditioning, which is highly conserved across species,...

journal_title：Nature genetics

authors： Wehner JM,Radcliffe RA,Rosmann ST,Christensen SC,Rasmussen DL,Fulker DW,Wiles M

更新日期：1997-11-01 00:00:00

abstract：:The rate and pattern of sequence substitutions in the mitochondrial DNA (mtDNA) control region (CR) is of central importance to studies of human evolution and to forensic identity testing. Here, we report a direct measurement of the intergenerational substitution rate in the human CR. We compared DNA sequences of two ...

journal_title：Nature genetics

authors： Parsons TJ,Muniec DS,Sullivan K,Woodyatt N,Alliston-Greiner R,Wilson MR,Berry DL,Holland KA,Weedn VW,Gill P,Holland MM

更新日期：1997-04-01 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：:Through whole-genome sequencing of 2,630 Icelanders and imputation into 11,114 Icelandic cases and 267,140 controls followed by testing in Danish and Iranian samples, we discovered 4 previously unreported variants affecting risk of type 2 diabetes (T2D). A low-frequency (1.47%) variant in intron 1 of CCND2, rs76895963...

journal_title：Nature genetics

authors： Steinthorsdottir V,Thorleifsson G,Sulem P,Helgason H,Grarup N,Sigurdsson A,Helgadottir HT,Johannsdottir H,Magnusson OT,Gudjonsson SA,Justesen JM,Harder MN,Jørgensen ME,Christensen C,Brandslund I,Sandbæk A,Lauritzen T,Ve

更新日期：2014-03-01 00:00:00