Promoter bivalency favors an open chromatin architecture in embryonic stem cells.

abstract：:A genome-wide association scan of approximately 6.6 million genotyped or imputed variants in 882 Sardinian individuals with multiple sclerosis (cases) and 872 controls suggested association of CBLB gene variants with disease, which was confirmed in 1,775 cases and 2,005 controls (rs9657904, overall P = 1.60 x 10(-10),...

journal_title：Nature genetics

authors： Sanna S,Pitzalis M,Zoledziewska M,Zara I,Sidore C,Murru R,Whalen MB,Busonero F,Maschio A,Costa G,Melis MC,Deidda F,Poddie F,Morelli L,Farina G,Li Y,Dei M,Lai S,Mulas A,Cuccuru G,Porcu E,Liang L,Zavattari P,M

更新日期：2010-06-01 00:00:00

abstract：:High rates of APOBEC-signature mutations are found in many tumors, but factors affecting this mutation pattern are not well understood. Here we explored the contribution of two common germline variants in the APOBEC3 region. SNP rs1014971 was associated with bladder cancer risk, increased APOBEC3B expression, and enri...

journal_title：Nature genetics

authors： Middlebrooks CD,Banday AR,Matsuda K,Udquim KI,Onabajo OO,Paquin A,Figueroa JD,Zhu B,Koutros S,Kubo M,Shuin T,Freedman ND,Kogevinas M,Malats N,Chanock SJ,Garcia-Closas M,Silverman DT,Rothman N,Prokunina-Olsson L

更新日期：2016-11-01 00:00:00

abstract：:We identified the gene carrying the juvenile spermatogonial depletion mutation (jsd), a recessive spermatogenic defect mapped to mouse chromosome 1 (refs. 1,2). We localized jsd to a 272-kb region and resequenced this area to identify the underlying mutation: a frameshift that severely truncates the predicted protein ...

journal_title：Nature genetics

authors： Bradley J,Baltus A,Skaletsky H,Royce-Tolland M,Dewar K,Page DC

更新日期：2004-08-01 00:00:00

abstract：:We conducted a meta-analysis of genome-wide association data to detect genes influencing age at menarche in 17,510 women. The strongest signal was at 9q31.2 (P = 1.7 × 10(-9)), where the nearest genes include TMEM38B, FKTN, FSD1L, TAL2 and ZNF462. The next best signal was near the LIN28B gene (rs7759938; P = 7.0 × 10(...

journal_title：Nature genetics

authors： Perry JR,Stolk L,Franceschini N,Lunetta KL,Zhai G,McArdle PF,Smith AV,Aspelund T,Bandinelli S,Boerwinkle E,Cherkas L,Eiriksdottir G,Estrada K,Ferrucci L,Folsom AR,Garcia M,Gudnason V,Hofman A,Karasik D,Kiel DP,Lau

更新日期：2009-06-01 00:00:00

abstract：:Systemic lupus erythematosus (SLE, MIM152700) is an autoimmune disease characterized by self-reactive antibodies resulting in systemic inflammation and organ failure. TNFAIP3, encoding the ubiquitin-modifying enzyme A20, is an established susceptibility locus for SLE. By fine mapping and genomic re-sequencing in ethni...

journal_title：Nature genetics

authors： Adrianto I,Wen F,Templeton A,Wiley G,King JB,Lessard CJ,Bates JS,Hu Y,Kelly JA,Kaufman KM,Guthridge JM,Alarcón-Riquelme ME,BIOLUPUS and GENLES Networks.,Anaya JM,Bae SC,Bang SY,Boackle SA,Brown EE,Petri MA,Gallant C

更新日期：2011-03-01 00:00:00

abstract：:Human synovial sarcomas contain a recurrent and specific chromosomal translocation t(X;18)(p11.2;q11.2). By screening a synovial sarcoma cDNA library with a yeast artificial chromosome spanning the X chromosome breakpoint, we have identified a hybrid transcript that contains 5' sequences (designated SYT) mapping to ch...

journal_title：Nature genetics

authors： Clark J,Rocques PJ,Crew AJ,Gill S,Shipley J,Chan AM,Gusterson BA,Cooper CS

更新日期：1994-08-01 00:00:00

abstract：:Recent studies of human oocytes have demonstrated an enrichment for distal exchanges among meiosis I (MI) nondisjunction events and for proximal exchanges among meiosis II (MII) events. Our characterization of 103 cases of spontaneous X chromosome nondisjunction in Drosophila oocytes strongly parallels these observati...

journal_title：Nature genetics

authors： Koehler KE,Boulton CL,Collins HE,French RL,Herman KC,Lacefield SM,Madden LD,Schuetz CD,Hawley RS

更新日期：1996-12-01 00:00:00

abstract：:Green toads are common in the Palaearctic region, where they have differentiated into several taxa. The toads exist with variable amounts of ploidy, similar to other anuran species or reptiles. In vertebrate biology, the very rare occurrence of triploidy is coupled with infertility or unisexuality, or requires the coe...

journal_title：Nature genetics

authors： Stöck M,Lamatsch DK,Steinlein C,Epplen JT,Grosse WR,Hock R,Klapperstück T,Lampert KP,Scheer U,Schmid M,Schartl M

更新日期：2002-03-01 00:00:00

abstract：:Upon detection of pathogen-associated molecular patterns, innate immune receptors initiate inflammatory responses. These receptors include cytoplasmic NOD-like receptors (NLRs) whose stimulation recruits and proteolytically activates caspase-1 within the inflammasome, a multiprotein complex. Caspase-1 mediates the pro...

journal_title：Nature genetics

authors： Romberg N,Al Moussawi K,Nelson-Williams C,Stiegler AL,Loring E,Choi M,Overton J,Meffre E,Khokha MK,Huttner AJ,West B,Podoltsev NA,Boggon TJ,Kazmierczak BI,Lifton RP

更新日期：2014-10-01 00:00:00

abstract：:Linkage disequilibrium mapping in isolated populations provides a powerful tool for fine structure localization of disease genes. Here, Luria and Delbrück's classical methods for analysing bacterial cultures are adapted to the study of human isolated founder populations in order to estimate (i) the recombination fract...

journal_title：Nature genetics

authors： Hästbacka J,de la Chapelle A,Kaitila I,Sistonen P,Weaver A,Lander E

更新日期：1992-11-01 00:00:00

abstract：:In the version of this article originally published, one of the two authors with the name Wei Zhao was omitted from the author list and the affiliations for both authors were assigned to the single Wei Zhao in the author list. In addition, the ORCID for Wei Zhao (Department of Biostatistics and Epidemiology, Perelman ...

journal_title：Nature genetics

authors： Turcot V,Lu Y,Highland HM,Schurmann C,Justice AE,Fine RS,Bradfield JP,Esko T,Giri A,Graff M,Guo X,Hendricks AE,Karaderi T,Lempradl A,Locke AE,Mahajan A,Marouli E,Sivapalaratnam S,Young KL,Alfred T,Feitosa MF,Mas

更新日期：2018-05-01 00:00:00

abstract：:Comparisons of chromosome X and the autosomes can illuminate differences in the histories of males and females as well as shed light on the forces of natural selection. We compared the patterns of variation in these parts of the genome using two datasets that we assembled for this study that are both genomic in scale....

journal_title：Nature genetics

authors： Keinan A,Mullikin JC,Patterson N,Reich D

更新日期：2009-01-01 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：:Volumetric variations of the human brain are heritable and are associated with many brain-related complex traits. Here we performed genome-wide association studies (GWAS) of 101 brain volumetric phenotypes using the UK Biobank sample including 19,629 participants. GWAS identified 365 independent genetic variants excee...

journal_title：Nature genetics

authors： Zhao B,Luo T,Li T,Li Y,Zhang J,Shan Y,Wang X,Yang L,Zhou F,Zhu Z,Alzheimer’s Disease Neuroimaging Initiative.,Pediatric Imaging, Neurocognition and Genetics.,Zhu H

更新日期：2019-11-01 00:00:00

abstract：:Nonchromaffin paragangliomas (PGLs) are usually benign, neural-crest-derived, slow-growing tumours of parasympathetic ganglia. Between 10% and 50% of cases are familial and are transmitted as autosomal dominant traits with incomplete and age-dependent penetrance. ...

journal_title：Nature genetics

authors： Niemann S,Müller U

更新日期：2000-11-01 00:00:00

abstract：:Junctional epidermolysis bullosa (JEB) is a heterogeneous autosomal recessively inherited blistering skin disorder associated with fragility at the dermal-epidermal junction. Characteristic ultrastructural findings in JEB are abnormalities in the hemidesmosome-anchoring filament complexes. These focal attachment struc...

journal_title：Nature genetics

authors： McGrath JA,Gatalica B,Christiano AM,Li K,Owaribe K,McMillan JR,Eady RA,Uitto J

更新日期：1995-09-01 00:00:00

abstract：:Endometrial cancer is the most common malignancy of the female genital tract in developed countries. To identify genetic variants associated with endometrial cancer risk, we performed a genome-wide association study involving 1,265 individuals with endometrial cancer (cases) from Australia and the UK and 5,190 control...

journal_title：Nature genetics

authors： Spurdle AB,Thompson DJ,Ahmed S,Ferguson K,Healey CS,O'Mara T,Walker LC,Montgomery SB,Dermitzakis ET,Australian National Endometrial Cancer Study Group.,Fahey P,Montgomery GW,Webb PM,Fasching PA,Beckmann MW,Ekici AB,Hein A

更新日期：2011-05-01 00:00:00

abstract：:Testicular germ cell tumor (TGCT) is the most common cancer in young men and is notable for its high familial risks. So far, six loci associated with TGCT have been reported. From genome-wide association study (GWAS) analysis of 307,291 SNPs in 986 TGCT cases and 4,946 controls, we selected for follow-up 694 SNPs, whi...

journal_title：Nature genetics

authors： Ruark E,Seal S,McDonald H,Zhang F,Elliot A,Lau K,Perdeaux E,Rapley E,Eeles R,Peto J,Kote-Jarai Z,Muir K,Nsengimana J,Shipley J,UK Testicular Cancer Collaboration (UKTCC).,Bishop DT,Stratton MR,Easton DF,Huddart RA,R

更新日期：2013-06-01 00:00:00

abstract：:Enterotoxigenic Escherichia coli (ETEC), a major cause of infectious diarrhea, produce heat-stable and/or heat-labile enterotoxins and at least 25 different colonization factors that target the intestinal mucosa. The genes encoding the enterotoxins and most of the colonization factors are located on plasmids found acr...

journal_title：Nature genetics

authors： von Mentzer A,Connor TR,Wieler LH,Semmler T,Iguchi A,Thomson NR,Rasko DA,Joffre E,Corander J,Pickard D,Wiklund G,Svennerholm AM,Sjöling Å,Dougan G

更新日期：2014-12-01 00:00:00

abstract：:Genome-wide association studies (GWAS) have identified ten loci harboring common variants that influence risk of developing colorectal cancer (CRC). To enhance the power to identify additional CRC risk loci, we conducted a meta-analysis of three GWAS from the UK which included a total of 3,334 affected individuals (ca...

journal_title：Nature genetics

authors： Houlston RS,Cheadle J,Dobbins SE,Tenesa A,Jones AM,Howarth K,Spain SL,Broderick P,Domingo E,Farrington S,Prendergast JG,Pittman AM,Theodoratou E,Smith CG,Olver B,Walther A,Barnetson RA,Churchman M,Jaeger EE,Penegar

更新日期：2010-11-01 00:00:00

abstract：:Animal development is an extremely robust process resulting in stereotyped outcomes. Canalization is a design principle wherein developmental pathways are stabilized to increase phenotypic reproducibility. Recent revelations into microRNA (miRNA) function suggest that miRNAs act as key players in canalizing genetic pr...

journal_title：Nature genetics

authors： Hornstein E,Shomron N

更新日期：2006-06-01 00:00:00

abstract：:The importance of commensal microbes for human health is increasingly recognized, yet the impacts of evolutionary changes in human diet and culture on commensal microbiota remain almost unknown. Two of the greatest dietary shifts in human evolution involved the adoption of carbohydrate-rich Neolithic (farming) diets (...

journal_title：Nature genetics

authors： Adler CJ,Dobney K,Weyrich LS,Kaidonis J,Walker AW,Haak W,Bradshaw CJ,Townsend G,Sołtysiak A,Alt KW,Parkhill J,Cooper A

更新日期：2013-04-01 00:00:00

abstract：:Restless legs syndrome (RLS) is a frequent neurological disorder characterized by an imperative urge to move the legs during night, unpleasant sensation in the lower limbs, disturbed sleep and increased cardiovascular morbidity. In a genome-wide association study we found highly significant associations between RLS an...

journal_title：Nature genetics

authors： Winkelmann J,Schormair B,Lichtner P,Ripke S,Xiong L,Jalilzadeh S,Fulda S,Pütz B,Eckstein G,Hauk S,Trenkwalder C,Zimprich A,Stiasny-Kolster K,Oertel W,Bachmann CG,Paulus W,Peglau I,Eisensehr I,Montplaisir J,Turecki G

更新日期：2007-08-01 00:00:00

abstract：:Alström syndrome (OMIM 203800) is an autosomal recessive disease, characterized by cone-rod retinal dystrophy, cardiomyopathy and type 2 diabetes mellitus, that has been mapped to chromosome 2p13 (refs 1-5). We have studied an individual with Alström syndrome carrying a familial balanced reciprocal chromosome transloc...

journal_title：Nature genetics

authors： Hearn T,Renforth GL,Spalluto C,Hanley NA,Piper K,Brickwood S,White C,Connolly V,Taylor JF,Russell-Eggitt I,Bonneau D,Walker M,Wilson DI

更新日期：2002-05-01 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：:Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is the only described systemic autoimmune disease with established monogenic background, and the first autoimmune disorder localized outside the major histocompatibility complex (MHC) region. The primary biochemical defect in APECED is unknown. We...

journal_title：Nature genetics

authors： Finnish-German APECED Consortium.

更新日期：1997-12-01 00:00:00

abstract：:To shed light on the peopling of South Asia and the origins of the morphological adaptations found there, we analyzed whole-genome sequences from 10 Andamanese individuals and compared them with sequences for 60 individuals from mainland Indian populations with different ethnic histories and with publicly available da...

journal_title：Nature genetics

authors： Mondal M,Casals F,Xu T,Dall'Olio GM,Pybus M,Netea MG,Comas D,Laayouni H,Li Q,Majumder PP,Bertranpetit J

更新日期：2016-09-01 00:00:00

abstract：:A number of studies have suggested that the active derivative of vitamin A, retinoic acid (RA), may be important for early development of mammalian embryos. Severe vitamin A deprivation in rodents results in maternal infertility, precluding a thorough investigation of the role of RA during embryogenesis. Here we show ...

journal_title：Nature genetics

authors： Niederreither K,Subbarayan V,Dollé P,Chambon P

更新日期：1999-04-01 00:00:00

abstract：:Errors in meiotic chromosome segregation are the leading cause of spontaneous abortions and birth defects. In humans, chromosomes that fail to experience crossovers (or exchanges) are error-prone, more likely than exchange chromosomes to mis-segregate in meiosis. We used a yeast model to investigate the mechanisms tha...

journal_title：Nature genetics

authors： Cheslock PS,Kemp BJ,Boumil RM,Dawson DS

更新日期：2005-07-01 00:00:00

abstract：:Methylation of cytosines within the sequence CpG is essential for mouse development and has been linked to transcriptional suppression in vertebrate systems. Methyl-CpG binding proteins (MeCPs) 1 and 2 bind preferentially to methylated DNA and can inhibit transcription. The gene for MeCP2 has been cloned and a methyl-...

journal_title：Nature genetics

authors： Cross SH,Meehan RR,Nan X,Bird A

更新日期：1997-07-01 00:00:00