Next-generation association studies for complex traits.

abstract：:The Escherichia coli gene recQ was identified as a RecF recombination pathway gene. The gene SGS1, encoding the only RecQ-like DNA helicase in Saccharomyces cerevisiae, was identified by mutations that suppress the top3 slow-growth phenotype. Relatively little is known about the function of Sgs1p because single mutati...

journal_title：Nature genetics

authors： Myung K,Datta A,Chen C,Kolodner RD

更新日期：2001-01-01 00:00:00

abstract：:A new study reports molecular characterization of the GDF5 locus, which is associated with osteoarthritis risk and adult height in humans. This study provides evidence of positive selection for short stature at GDF5 in modern humans, as well as in archaic Neandertals and Denisovans. ...

journal_title：Nature genetics

authors： Lettre G

更新日期：2017-07-27 00:00:00

abstract：:Height is a classic polygenic trait, reflecting the combined influence of multiple as-yet-undiscovered genetic factors. We carried out a meta-analysis of genome-wide association study data of height from 15,821 individuals at 2.2 million SNPs, and followed up the strongest findings in >10,000 subjects. Ten newly ident...

journal_title：Nature genetics

authors： Lettre G,Jackson AU,Gieger C,Schumacher FR,Berndt SI,Sanna S,Eyheramendy S,Voight BF,Butler JL,Guiducci C,Illig T,Hackett R,Heid IM,Jacobs KB,Lyssenko V,Uda M,Diabetes Genetics Initiative.,FUSION.,KORA.,Prostate, Lu

更新日期：2008-05-01 00:00:00

abstract：:During mammalian development, one of the two X chromosomes in female embryos is randomly inactivated in the somatic cell in order to achieve gene dosage compensation. But is X inactivation established simultaneously or is it accomplished over time in a lineage-dependent fashion? We have examined this question in mouse...

journal_title：Nature genetics

authors： Tan SS,Williams EA,Tam PP

更新日期：1993-02-01 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：:Size at birth is an important determinant of perinatal survival and has also been associated with the risk for cardiovascular disease and type 2 diabetes in adult life. Common genetic variation that regulates fetal growth could therefore influence perinatal survival and predispose to the development of adult disease. ...

journal_title：Nature genetics

authors： Dunger DB,Ong KK,Huxtable SJ,Sherriff A,Woods KA,Ahmed ML,Golding J,Pembrey ME,Ring S,Bennett ST,Todd JA

更新日期：1998-05-01 00:00:00

abstract：:Uterine leiomyomata (fibroids) are common and clinically important tumors, but little is known about their etiology and pathogenesis. We previously mapped a gene that predisposes to multiple fibroids, cutaneous leiomyomata and renal cell carcinoma to chromosome 1q42.3-q43 (refs 4-6). Here we show, through a combinatio...

journal_title：Nature genetics

authors： Tomlinson IP,Alam NA,Rowan AJ,Barclay E,Jaeger EE,Kelsell D,Leigh I,Gorman P,Lamlum H,Rahman S,Roylance RR,Olpin S,Bevan S,Barker K,Hearle N,Houlston RS,Kiuru M,Lehtonen R,Karhu A,Vilkki S,Laiho P,Eklund C,Vie

更新日期：2002-04-01 00:00:00

abstract：:Autosomal dominant polycystic kidney disease (ADPKD) describes a group of at least three genetically distinct disorders with almost identical clinical features that collectively affects 1:1,000 of the population. Affected individuals typically develop large cystic kidneys and approximately one half develop end-stage r...

journal_title：Nature genetics

authors： Qian F,Germino FJ,Cai Y,Zhang X,Somlo S,Germino GG

更新日期：1997-06-01 00:00:00

abstract：:Advances in sequencing technologies have enabled the identification of mutations acquired by bacterial pathogens during infection. However, it remains unclear whether adaptive mutations fix in the population or lead to pathogen diversification within the patient. Here we study the genotypic diversity of Burkholderia d...

journal_title：Nature genetics

authors： Lieberman TD,Flett KB,Yelin I,Martin TR,McAdam AJ,Priebe GP,Kishony R

更新日期：2014-01-01 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：: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：: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：: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：:Cell fate during development is defined by transcription factors that act as molecular switches to activate or repress specific gene expression programmes. The POU transcription factor Oct-3/4 (encoded by Pou5f1) is a candidate regulator in pluripotent and germline cells and is essential for the initial formation of a...

journal_title：Nature genetics

authors： Niwa H,Miyazaki J,Smith AG

更新日期：2000-04-01 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：:Genetic studies of blood pressure (BP) to date have mainly analyzed common variants (minor allele frequency > 0.05). In a meta-analysis of up to ~1.3 million participants, we discovered 106 new BP-associated genomic regions and 87 rare (minor allele frequency ≤ 0.01) variant BP associations (P < 5 × 10-8), of which 32...

journal_title：Nature genetics

authors： Surendran P,Feofanova EV,Lahrouchi N,Ntalla I,Karthikeyan S,Cook J,Chen L,Mifsud B,Yao C,Kraja AT,Cartwright JH,Hellwege JN,Giri A,Tragante V,Thorleifsson G,Liu DJ,Prins BP,Stewart ID,Cabrera CP,Eales JM,Akbarov A

更新日期：2020-12-01 00:00:00

abstract：:Congenital myoclonus is a widespread neurologic disorder characterized by hyperexcitability, muscular spasticity and myoclonus associated with marked reduction in neural glycine binding sites. The recessive mouse mutation spastic (spa) is a prototype of inherited myoclonus. Here we show that defects in the gene encodi...

journal_title：Nature genetics

authors： Kingsmore SF,Giros B,Suh D,Bieniarz M,Caron MG,Seldin MF

更新日期：1994-06-01 00:00:00

abstract：:Here we report the discovery of oncogenic mutations in the Hedgehog and mitogen-activated protein kinase (MAPK) pathways in over 80% of ameloblastomas, locally destructive odontogenic tumors of the jaw, by genomic analysis of archival material. Mutations in SMO (encoding Smoothened, SMO) are common in ameloblastomas o...

journal_title：Nature genetics

authors： Sweeney RT,McClary AC,Myers BR,Biscocho J,Neahring L,Kwei KA,Qu K,Gong X,Ng T,Jones CD,Varma S,Odegaard JI,Sugiyama T,Koyota S,Rubin BP,Troxell ML,Pelham RJ,Zehnder JL,Beachy PA,Pollack JR,West RB

更新日期：2014-07-01 00:00:00

abstract：:Joubert syndrome-related disorders (JSRD) are a group of syndromes sharing the neuroradiological features of cerebellar vermis hypoplasia and a peculiar brainstem malformation known as the 'molar tooth sign'. We identified mutations in the CEP290 gene in five families with variable neurological, retinal and renal mani...

journal_title：Nature genetics

authors： Valente EM,Silhavy JL,Brancati F,Barrano G,Krishnaswami SR,Castori M,Lancaster MA,Boltshauser E,Boccone L,Al-Gazali L,Fazzi E,Signorini S,Louie CM,Bellacchio E,International Joubert Syndrome Related Disorders Study Group.,B

更新日期：2006-06-01 00:00:00

abstract：:Genome-wide analyses of human lung adenocarcinoma have identified regions of consistent copy-number gain or loss, but in many cases the oncogenes and tumor suppressors presumed to reside in these loci remain to be determined. Here we identify the downstream of tyrosine kinase (Dok) family members Dok1, Dok2 and Dok3 a...

journal_title：Nature genetics

authors： Berger AH,Niki M,Morotti A,Taylor BS,Socci ND,Viale A,Brennan C,Szoke J,Motoi N,Rothman PB,Teruya-Feldstein J,Gerald WL,Ladanyi M,Pandolfi PP

更新日期：2010-03-01 00:00:00

abstract：:Cervical carcinoma is now known to be associated with human papillomaviruses (HPV), but the evidence for a link with specific HLA loci is controversial. The role of genetic variation at the HLA class II loci and among HPV types in cervical carcinoma was investigated by PCR DNA amplification and oligonucleotide probe t...

journal_title：Nature genetics

authors： Apple RJ,Erlich HA,Klitz W,Manos MM,Becker TM,Wheeler CM

更新日期：1994-02-01 00:00:00

abstract：:Bone mineral density (BMD) is the most widely used predictor of fracture risk. We performed the largest meta-analysis to date on lumbar spine and femoral neck BMD, including 17 genome-wide association studies and 32,961 individuals of European and east Asian ancestry. We tested the top BMD-associated markers for repli...

journal_title：Nature genetics

authors： Estrada K,Styrkarsdottir U,Evangelou E,Hsu YH,Duncan EL,Ntzani EE,Oei L,Albagha OM,Amin N,Kemp JP,Koller DL,Li G,Liu CT,Minster RL,Moayyeri A,Vandenput L,Willner D,Xiao SM,Yerges-Armstrong LM,Zheng HF,Alonso N,E

更新日期：2012-04-15 00:00:00

abstract：:Human cystic fibrosis transmembrane conductance regulator (CFTR) was expressed in transgenic mice under the control of transcriptional elements derived from the human surfactant protein C (SP-C) gene. The hCFTR mRNA was expressed in lungs and testes: in the lung, we found hCFTR mRNA in bronchiolar and alveolar epithel...

journal_title：Nature genetics

authors： Whitsett JA,Dey CR,Stripp BR,Wikenheiser KA,Clark JC,Wert SE,Gregory RJ,Smith AE,Cohn JA,Wilson JM

更新日期：1992-09-01 00:00:00

abstract：:Genome-wide association studies have identified several loci associated with pancreatic cancer risk; however, the mechanisms by which genetic factors influence the development of sporadic pancreatic cancer remain largely unknown. Here, by using genome-wide association analysis and functional characterization, we ident...

journal_title：Nature genetics

authors： Zheng J,Huang X,Tan W,Yu D,Du Z,Chang J,Wei L,Han Y,Wang C,Che X,Zhou Y,Miao X,Jiang G,Yu X,Yang X,Cao G,Zuo C,Li Z,Wang C,Cheung ST,Jia Y,Zheng X,Shen H,Wu C,Lin D

更新日期：2016-07-01 00:00:00

abstract：:Tumor suppressor genes on the X chromosome may skew the gender distribution of specific types of cancer. T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive hematological malignancy with an increased incidence in males. In this study, we report the identification of inactivating mutations and deletions in the...

journal_title：Nature genetics

authors： Van Vlierberghe P,Palomero T,Khiabanian H,Van der Meulen J,Castillo M,Van Roy N,De Moerloose B,Philippé J,González-García S,Toribio ML,Taghon T,Zuurbier L,Cauwelier B,Harrison CJ,Schwab C,Pisecker M,Strehl S,Langerak AW

更新日期：2010-04-01 00:00:00

abstract：:Densely methylated DNA associates with transcriptionally repressive chromatin characterized by the presence of underacetylated histones. Recently, these two epigenetic processes have been dynamically linked. The methyl-CpG-binding protein MeCP2 appears to reside in a complex with histone deacetylase activity. MeCP2 ca...

journal_title：Nature genetics

authors： Cameron EE,Bachman KE,Myöhänen S,Herman JG,Baylin SB

更新日期：1999-01-01 00:00:00

abstract：:A scarlet fever outbreak began in mainland China and Hong Kong in 2011 (refs. 1-6). Macrolide- and tetracycline-resistant Streptococcus pyogenes emm12 isolates represent the majority of clinical cases. Recently, we identified two mobile genetic elements that were closely associated with emm12 outbreak isolates: the in...

journal_title：Nature genetics

authors： Davies MR,Holden MT,Coupland P,Chen JH,Venturini C,Barnett TC,Zakour NL,Tse H,Dougan G,Yuen KY,Walker MJ

更新日期：2015-01-01 00:00:00

abstract：:Ocular retardation (or) is a murine eye mutation causing microphthalmia, a thin hypocellular retina and optic nerve aplasia. Here we show that mice carrying the OrJ allele have a premature stop codon in the homeobox of the Chx10 gene, a gene expressed at high levels in uncommitted retinal progenitor cells and mature b...

journal_title：Nature genetics

authors： Burmeister M,Novak J,Liang MY,Basu S,Ploder L,Hawes NL,Vidgen D,Hoover F,Goldman D,Kalnins VI,Roderick TH,Taylor BA,Hankin MH,McInnes RR

更新日期：1996-04-01 00:00:00

abstract：:The recycling of the amyloid precursor protein (APP) from the cell surface via the endocytic pathways plays a key role in the generation of amyloid beta peptide (Abeta) in Alzheimer disease. We report here that inherited variants in the SORL1 neuronal sorting receptor are associated with late-onset Alzheimer disease. ...

journal_title：Nature genetics

authors： Rogaeva E,Meng Y,Lee JH,Gu Y,Kawarai T,Zou F,Katayama T,Baldwin CT,Cheng R,Hasegawa H,Chen F,Shibata N,Lunetta KL,Pardossi-Piquard R,Bohm C,Wakutani Y,Cupples LA,Cuenco KT,Green RC,Pinessi L,Rainero I,Sorbi S,

更新日期：2007-02-01 00:00:00

abstract：:The twenty-first century heralds a new era for the biological sciences and medicine. The tools of our time are allowing us to analyze complex genomes more comprehensively than ever before. A principal technology contributing to this explosion of information is the DNA microarray, which enables us to study genome-wide ...

journal_title：Nature genetics

authors： Chung CH,Bernard PS,Perou CM

更新日期：2002-12-01 00:00:00