Common variants in FOXP1 are associated with generalized vitiligo.

abstract：:SNP genotyping has emerged as a technology to incorporate copy number variants (CNVs) into genetic analyses of human traits. However, the extent to which SNP platforms accurately capture CNVs remains unclear. Using independent, sequence-based CNV maps, we find that commonly used SNP platforms have limited or no probe ...

journal_title：Nature genetics

authors： Cooper GM,Zerr T,Kidd JM,Eichler EE,Nickerson DA

更新日期：2008-10-01 00:00:00

abstract：:Human-derived tumor models are becoming popular in the context of personalized medicine, but a new study shows that these models could be less representative of primary tumors than previously thought, particularly when using late passages. ...

journal_title：Nature genetics

authors： Villacorta-Martin C,Craig AJ,Villanueva A

更新日期：2017-10-27 00:00:00

abstract：:A CRISPR screen conducted in a CD4+ T cell leukemia line has identified host factors required for HIV infection but dispensable for cellular survival. The results highlight sulfation on the HIV co-receptor CCR5 and cellular aggregation as potential targets for therapeutic intervention. ...

journal_title：Nature genetics

authors： Tsui CK,Gupta A,Bassik MC

更新日期：2017-01-31 00:00:00

abstract：:Gene-environment associations are important in rheumatoid arthritis (RA) susceptibility, with an association existing between smoking, HLA- DRB1 'shared epitope' alleles, PTPN22 and antibodies to cyclic citrullinated peptides (CCP). Here, we test the hypothesis that a subset of the anti-CCP response, with specific aut...

journal_title：Nature genetics

authors： Mahdi H,Fisher BA,Källberg H,Plant D,Malmström V,Rönnelid J,Charles P,Ding B,Alfredsson L,Padyukov L,Symmons DP,Venables PJ,Klareskog L,Lundberg K

更新日期：2009-12-01 00:00:00

abstract：:Gene therapy strategies designed to combat haemophilia B, caused by defects in clotting factor IX, have so far concentrated on ex vivo approaches. We have now evaluated adenoviral vector-mediated expression of human factor IX in vivo. Injection of the vector Av1H9B, which encodes human factor IX cDNA, into the tail ve...

journal_title：Nature genetics

authors： Smith TA,Mehaffey MG,Kayda DB,Saunders JM,Yei S,Trapnell BC,McClelland A,Kaleko M

更新日期：1993-12-01 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：:The early development of blood vessels consists of two phases, vasculogenesis and angiogenesis, which involve distinct and also overlapping molecular regulators, but the intracellular signal transduction pathways involved in these processes have not been well defined. We disrupted Map3k3 (also known as Mekk3), which e...

journal_title：Nature genetics

authors： Yang J,Boerm M,McCarty M,Bucana C,Fidler IJ,Zhuang Y,Su B

更新日期：2000-03-01 00:00:00

abstract：:R-spondins are a recently characterized small family of growth factors. Here we show that human R-spondin1 (RSPO1) is the gene disrupted in a recessive syndrome characterized by XX sex reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin. Our data show, for the first time, th...

journal_title：Nature genetics

authors： Parma P,Radi O,Vidal V,Chaboissier MC,Dellambra E,Valentini S,Guerra L,Schedl A,Camerino G

更新日期：2006-11-01 00:00:00

abstract：:A layered organization of cells is a common architectural feature of many neuronal formations. Mutations of the zebrafish gene nagie oko (nok) produce a severe disruption of retinal architecture, indicating a key role for this locus in neuronal patterning. We show that nok encodes a membrane-associated guanylate kinas...

journal_title：Nature genetics

authors： Wei X,Malicki J

更新日期：2002-06-01 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：:Mutation of the gene PARK2, which encodes an E3 ubiquitin ligase, is the most common cause of early-onset Parkinson's disease. In a search for multisite tumor suppressors, we identified PARK2 as a frequently targeted gene on chromosome 6q25.2-q27 in cancer. Here we describe inactivating somatic mutations and frequent ...

journal_title：Nature genetics

authors： Veeriah S,Taylor BS,Meng S,Fang F,Yilmaz E,Vivanco I,Janakiraman M,Schultz N,Hanrahan AJ,Pao W,Ladanyi M,Sander C,Heguy A,Holland EC,Paty PB,Mischel PS,Liau L,Cloughesy TF,Mellinghoff IK,Solit DB,Chan TA

更新日期：2010-01-01 00:00:00

abstract：:X-linked congenital stationary night blindness (CSNB) is a recessive non-progressive retinal disorder characterized by night blindness, decreased visual acuity, myopia, nystagmus and strabismus. Two distinct clinical entities of X-linked CSNB have been proposed. Patients with complete CSNB show moderate to severe myop...

journal_title：Nature genetics

authors： Bech-Hansen NT,Naylor MJ,Maybaum TA,Pearce WG,Koop B,Fishman GA,Mets M,Musarella MA,Boycott KM

更新日期：1998-07-01 00:00:00

abstract：:Down syndrome confers a 20-fold increased risk of B cell acute lymphoblastic leukemia (B-ALL), and polysomy 21 is the most frequent somatic aneuploidy among all B-ALLs. Yet the mechanistic links between chromosome 21 triplication and B-ALL remain undefined. Here we show that germline triplication of only 31 genes orth...

journal_title：Nature genetics

authors： Lane AA,Chapuy B,Lin CY,Tivey T,Li H,Townsend EC,van Bodegom D,Day TA,Wu SC,Liu H,Yoda A,Alexe G,Schinzel AC,Sullivan TJ,Malinge S,Taylor JE,Stegmaier K,Jaffe JD,Bustin M,te Kronnie G,Izraeli S,Harris MH,Steve

更新日期：2014-06-01 00:00:00

abstract：:Leber congenital amaurosis (LCA) is a blinding retinal disease that presents within the first year after birth. Using exome sequencing, we identified mutations in the nicotinamide adenine dinucleotide (NAD) synthase gene NMNAT1 encoding nicotinamide mononucleotide adenylyltransferase 1 in eight families with LCA, incl...

journal_title：Nature genetics

authors： Koenekoop RK,Wang H,Majewski J,Wang X,Lopez I,Ren H,Chen Y,Li Y,Fishman GA,Genead M,Schwartzentruber J,Solanki N,Traboulsi EI,Cheng J,Logan CV,McKibbin M,Hayward BE,Parry DA,Johnson CA,Nageeb M,Finding of Rare Dis

更新日期：2012-09-01 00:00:00

abstract：:ATM is a member of the phosphatidylinositol 3-kinase (PIK)-like kinases, some of which are active in regulating DNA damage-induced mitotic cell-cycle checkpoints. ATM also plays a role in meiosis. Spermatogenesis in Atm-/- male mice is disrupted, with chromosome fragmentation leading to meiotic arrest; in human patien...

journal_title：Nature genetics

authors： Plug AW,Peters AH,Xu Y,Keegan KS,Hoekstra MF,Baltimore D,de Boer P,Ashley T

更新日期：1997-12-01 00:00:00

abstract：:Here we ask the question "How much information do epigenomic datasets provide about human genomic function?" We consider nine epigenomic features across 115 cell types and measure information about function as a reduction in entropy under a probabilistic evolutionary model fitted to human and nonhuman primate genomes....

journal_title：Nature genetics

authors： Gulko B,Siepel A

更新日期：2019-02-01 00:00:00

abstract：:Our genome-wide association study of celiac disease previously identified risk variants in the IL2-IL21 region. To identify additional risk variants, we genotyped 1,020 of the most strongly associated non-HLA markers in an additional 1,643 cases and 3,406 controls. Through joint analysis including the genome-wide asso...

journal_title：Nature genetics

authors： Hunt KA,Zhernakova A,Turner G,Heap GA,Franke L,Bruinenberg M,Romanos J,Dinesen LC,Ryan AW,Panesar D,Gwilliam R,Takeuchi F,McLaren WM,Holmes GK,Howdle PD,Walters JR,Sanders DS,Playford RJ,Trynka G,Mulder CJ,Mearin

更新日期：2008-04-01 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：:Obesity results from the interaction of genetic and environmental factors. To search for sequence variants that affect variation in two common measures of obesity, weight and body mass index (BMI), both of which are highly heritable, we performed a genome-wide association (GWA) study with 305,846 SNPs typed in 25,344 ...

journal_title：Nature genetics

authors： Thorleifsson G,Walters GB,Gudbjartsson DF,Steinthorsdottir V,Sulem P,Helgadottir A,Styrkarsdottir U,Gretarsdottir S,Thorlacius S,Jonsdottir I,Jonsdottir T,Olafsdottir EJ,Olafsdottir GH,Jonsson T,Jonsson F,Borch-Johnsen K,

更新日期：2009-01-01 00:00:00

abstract：:Congenital heart malformation (CHM) is the most common form of congenital human birth anomaly and is the leading cause of infant mortality. Although some causative genes have been identified, little progress has been made in identifying genes in which low-penetrance susceptibility variants occur in the majority of spo...

journal_title：Nature genetics

authors： Hu Z,Shi Y,Mo X,Xu J,Zhao B,Lin Y,Yang S,Xu Z,Dai J,Pan S,Da M,Wang X,Qian B,Wen Y,Wen J,Xing J,Guo X,Xia Y,Ma H,Jin G,Yu S,Liu J,Zhou Z,Wang X,Chen Y,Sha J,Shen H

更新日期：2013-07-01 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：:Genetic studies of complex traits have mainly identified associations with noncoding variants. To further determine the contribution of regulatory variation, we combined whole-genome and transcriptome data for 624 individuals from Sardinia to identify common and rare variants that influence gene expression and splicin...

journal_title：Nature genetics

authors： Pala M,Zappala Z,Marongiu M,Li X,Davis JR,Cusano R,Crobu F,Kukurba KR,Gloudemans MJ,Reinier F,Berutti R,Piras MG,Mulas A,Zoledziewska M,Marongiu M,Sorokin EP,Hess GT,Smith KS,Busonero F,Maschio A,Steri M,Sidore

更新日期：2017-05-01 00:00:00

abstract：:Chronic granulomatous disease (CGD) is a recessive disorder characterized by a defective phagocyte respiratory burst oxidase, life-threatening pyogenic infections and inflammatory granulomas. Gene targeting was used to generate mice with a null allele of the gene involved in X-linked CGD, which encodes the 91 kD subun...

journal_title：Nature genetics

authors： Pollock JD,Williams DA,Gifford MA,Li LL,Du X,Fisherman J,Orkin SH,Doerschuk CM,Dinauer MC

更新日期：1995-02-01 00:00:00

abstract：:Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) has recently been defined based on a highly characteristic constellation of abnormalities observed by magnetic resonance imaging and spectroscopy. LBSL is an autosomal recessive disease, most often manifesting in early childho...

journal_title：Nature genetics

authors： Scheper GC,van der Klok T,van Andel RJ,van Berkel CG,Sissler M,Smet J,Muravina TI,Serkov SV,Uziel G,Bugiani M,Schiffmann R,Krägeloh-Mann I,Smeitink JA,Florentz C,Van Coster R,Pronk JC,van der Knaap MS

更新日期：2007-04-01 00:00:00

abstract：:By imposing a limit on the proliferative lifespan of most somatic cells, telomere erosion represents an innate mechanism for tumor suppression and may contribute to age-related disease. A detailed understanding of the pathways that link shortened telomeres to replicative senescence has been severely hindered by the in...

journal_title：Nature genetics

authors： Baird DM,Rowson J,Wynford-Thomas D,Kipling D

更新日期：2003-02-01 00:00:00

abstract：:Gastric cancer is classified into intestinal and diffuse types, the latter including a highly malignant form, linitis plastica. A two-stage genome-wide association study (stage 1: 85,576 SNPs on 188 cases and 752 references; stage 2: 2,753 SNPs on 749 cases and 750 controls) in Japan identified a significant associati...

journal_title：Nature genetics

authors： Study Group of Millennium Genome Project for Cancer.,Sakamoto H,Yoshimura K,Saeki N,Katai H,Shimoda T,Matsuno Y,Saito D,Sugimura H,Tanioka F,Kato S,Matsukura N,Matsuda N,Nakamura T,Hyodo I,Nishina T,Yasui W,Hirose H,H

更新日期：2008-06-01 00:00:00

abstract：:Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked recessive disorder characterized by slowly progressing contractures, wasting of skeletal muscle and cardiomyopathy. Heart block is a frequent cause of death. The disease gene has been mapped to distal Xq28. Among many genes in this region, we selected eight trans...

journal_title：Nature genetics

authors： Bione S,Maestrini E,Rivella S,Mancini M,Regis S,Romeo G,Toniolo D

更新日期：1994-12-01 00:00:00

abstract：:An ever-larger proportion of the liability to common and complex disease can be obtained by progressively larger studies. However, for most diseases, the sample sizes required to gain usable predictions will be out of reach of sequencing technologies for the foreseeable future. Array-based genotyping genome-wide assoc...

journal_title：Nature genetics

authors：

更新日期：2013-04-01 00:00:00

abstract：:Polycomb Group (PcG) proteins silence critical developmental genes and modulate cell proliferation. Using the Drosophila melanogaster eye as a model system, we show that cells with mutations in the gene locus (ph) that encodes the PcG protein Polyhomeotic (PH) overproliferate and lose both the ability to differentiate...

journal_title：Nature genetics

authors： Martinez AM,Schuettengruber B,Sakr S,Janic A,Gonzalez C,Cavalli G

更新日期：2009-10-01 00:00:00

abstract：:Hirschsprung disease (HSCR) is a frequent congenital disorder (1 in 5,000 newborns) of unknown origin characterized by the absence of parasympathetic intrinsic ganglion cells of the hindgut. Taking advantage of a proximal deletion of chromosome 10q (del 10q11.2-q21.2) in a patient with total colonic aganglionosis, and...

journal_title：Nature genetics

authors： Lyonnet S,Bolino A,Pelet A,Abel L,Nihoul-Fékété C,Briard ML,Mok-Siu V,Kaariainen H,Martucciello G,Lerone M,Puliti A,Luo Y,Weissenbach J,Devoto M,Munnich A,Romeo G

更新日期：1993-08-01 00:00:00