Physical mapping of the holoprosencephaly critical region on chromosome 7q36.

abstract：:The breast cancer risk variants identified in genome-wide association studies explain only a small fraction of the familial relative risk, and the genes responsible for these associations remain largely unknown. To identify novel risk loci and likely causal genes, we performed a transcriptome-wide association study ev...

journal_title：Nature genetics

authors： Wu L,Shi W,Long J,Guo X,Michailidou K,Beesley J,Bolla MK,Shu XO,Lu Y,Cai Q,Al-Ejeh F,Rozali E,Wang Q,Dennis J,Li B,Zeng C,Feng H,Gusev A,Barfield RT,Andrulis IL,Anton-Culver H,Arndt V,Aronson KJ,Auer PL,Ba

更新日期：2018-07-01 00:00:00

abstract：:Individuals with hereditary hemochromatosis suffer from systemic iron overload due to duodenal hyperabsorption. Most cases arise from a founder mutation in HFE (845G-->A; ref. 2) that results in the amino-acid substitution C282Y and prevents the association of HFE with beta2-microglobulin. Mice homozygous with respect...

journal_title：Nature genetics

authors： Muckenthaler M,Roy CN,Custodio AO,Miñana B,deGraaf J,Montross LK,Andrews NC,Hentze MW

更新日期：2003-05-01 00:00:00

abstract：:We are beginning to elucidate transcriptional regulatory networks on a large scale and to understand some of the structural principles of these networks, but the evolutionary mechanisms that form these networks are still mostly unknown. Here we investigate the role of gene duplication in network evolution. Gene duplic...

journal_title：Nature genetics

authors： Teichmann SA,Babu MM

更新日期：2004-05-01 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：:Interindividual variability in drug response, ranging from no therapeutic benefit to life-threatening adverse reactions, is influenced by variation in genes that control the absorption, distribution, metabolism and excretion of drugs. We genotyped 904 single-nucleotide polymorphisms (SNPs) from 55 such genes in two po...

journal_title：Nature genetics

authors： Ahmadi KR,Weale ME,Xue ZY,Soranzo N,Yarnall DP,Briley JD,Maruyama Y,Kobayashi M,Wood NW,Spurr NK,Burns DK,Roses AD,Saunders AM,Goldstein DB

更新日期：2005-01-01 00:00:00

abstract：:From chromosomal region 17q21.3, where a tumour suppressor gene(s) for breast and ovarian cancers is thought to be present, we have isolated a novel gene from a cosmid clone that revealed somatic rearrangements in two breast cancers. The gene (MDC) encodes a 524-amino acid metalloprotease-like, disintegrin-like and cy...

journal_title：Nature genetics

authors： Emi M,Katagiri T,Harada Y,Saito H,Inazawa J,Ito I,Kasumi F,Nakamura Y

更新日期：1993-10-01 00:00:00

abstract：:During vertebrate embryogenesis, myogenic precursor cells of limb muscles delaminate from the ventro-lateral edge of the somitic dermomyotome and migrate to the limb buds, where they congregate into dorsal and ventral muscle masses. It has been proposed that the surrounding connective tissue controls muscle pattern fo...

journal_title：Nature genetics

authors： Schäfer K,Braun T

更新日期：1999-10-01 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：:Differences in three-dimensional (3D) chromatin architecture can influence the integrity of topologically associating domains (TADs) and rewire specific enhancer-promoter interactions, impacting gene expression and leading to human disease. Here we investigate the 3D chromatin architecture in T cell acute lymphoblasti...

journal_title：Nature genetics

authors： Kloetgen A,Thandapani P,Ntziachristos P,Ghebrechristos Y,Nomikou S,Lazaris C,Chen X,Hu H,Bakogianni S,Wang J,Fu Y,Boccalatte F,Zhong H,Paietta E,Trimarchi T,Zhu Y,Van Vlierberghe P,Inghirami GG,Lionnet T,Aifantis I

更新日期：2020-04-01 00:00:00

abstract：:There is increasing evidence in eukaryotic genomes that gene order is not random, even allowing for tandem duplication. Notably, in numerous genomes, genes of similar expression tend to be clustered. Are there other reasons for clustering of functionally similar genes? If genes are linked to enable genetic, rather tha...

journal_title：Nature genetics

authors： Pál C,Hurst LD

更新日期：2003-03-01 00:00:00

abstract：:Measurements of erythrocytes within the blood are important clinical traits and can indicate various hematological disorders. We report here genome-wide association studies (GWAS) for six erythrocyte traits, including hemoglobin concentration (Hb), hematocrit (Hct), mean corpuscular volume (MCV), mean corpuscular hemo...

journal_title：Nature genetics

authors： Ganesh SK,Zakai NA,van Rooij FJ,Soranzo N,Smith AV,Nalls MA,Chen MH,Kottgen A,Glazer NL,Dehghan A,Kuhnel B,Aspelund T,Yang Q,Tanaka T,Jaffe A,Bis JC,Verwoert GC,Teumer A,Fox CS,Guralnik JM,Ehret GB,Rice K,Feli

更新日期：2009-11-01 00:00:00

abstract：:The telomerase enzyme lengthens telomeres, an activity essential for chromosome stability in most eukaryotes. The enzyme is composed of a specialized reverse transcriptase and a template RNA. In Saccharomyces cerevisiae, overexpression of TLC1, the telomerase RNA gene, disrupts telomeric structure. The result is both ...

journal_title：Nature genetics

authors： Peterson SE,Stellwagen AE,Diede SJ,Singer MS,Haimberger ZW,Johnson CO,Tzoneva M,Gottschling DE

更新日期：2001-01-01 00:00:00

abstract：:Mycobacterium tuberculosis strains of the Beijing lineage are globally distributed and are associated with the massive spread of multidrug-resistant (MDR) tuberculosis in Eurasia. Here we reconstructed the biogeographical structure and evolutionary history of this lineage by genetic analysis of 4,987 isolates from 99 ...

journal_title：Nature genetics

authors： Merker M,Blin C,Mona S,Duforet-Frebourg N,Lecher S,Willery E,Blum MG,Rüsch-Gerdes S,Mokrousov I,Aleksic E,Allix-Béguec C,Antierens A,Augustynowicz-Kopeć E,Ballif M,Barletta F,Beck HP,Barry CE 3rd,Bonnet M,Borroni E,

更新日期：2015-03-01 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：:To evaluate the shared genetic etiology of type 2 diabetes (T2D) and coronary heart disease (CHD), we conducted a genome-wide, multi-ancestry study of genetic variation for both diseases in up to 265,678 subjects for T2D and 260,365 subjects for CHD. We identify 16 previously unreported loci for T2D and 1 locus for CH...

journal_title：Nature genetics

authors： Zhao W,Rasheed A,Tikkanen E,Lee JJ,Butterworth AS,Howson JMM,Assimes TL,Chowdhury R,Orho-Melander M,Damrauer S,Small A,Asma S,Imamura M,Yamauch T,Chambers JC,Chen P,Sapkota BR,Shah N,Jabeen S,Surendran P,Lu Y,Zh

更新日期：2017-10-01 00:00:00

abstract：:Chromatin packaging in mammalian spermatozoa requires an ordered replacement of the somatic histones by two classes of spermatid-specific basic proteins, the transition proteins and the protamines. Temporal expression of transition proteins and protamines during spermatid differentiation is under translational control...

journal_title：Nature genetics

authors： Zhong J,Peters AH,Lee K,Braun RE

更新日期：1999-06-01 00:00:00

abstract：:The GM2 gangliosidoses, Tay-Sachs and Sandhoff diseases, are caused by mutations in the HEXA (alpha-subunit) and HEXB (beta-subunit) genes, respectively. Each gene encodes a subunit for the heterodimeric lysosomal enzyme, beta-hexosaminidase A (alpha beta), as well as for the homodimers beta-hexosaminidase B (beta bet...

journal_title：Nature genetics

authors： Sango K,McDonald MP,Crawley JN,Mack ML,Tifft CJ,Skop E,Starr CM,Hoffmann A,Sandhoff K,Suzuki K,Proia RL

更新日期：1996-11-01 00:00:00

abstract：:Deletions of the PAFAH1B1 gene (encoding LIS1) in 17p13.3 result in isolated lissencephaly sequence, and extended deletions including the YWHAE gene (encoding 14-3-3epsilon) cause Miller-Dieker syndrome. We identified seven unrelated individuals with submicroscopic duplication in 17p13.3 involving the PAFAH1B1 and/or ...

journal_title：Nature genetics

authors： Bi W,Sapir T,Shchelochkov OA,Zhang F,Withers MA,Hunter JV,Levy T,Shinder V,Peiffer DA,Gunderson KL,Nezarati MM,Shotts VA,Amato SS,Savage SK,Harris DJ,Day-Salvatore DL,Horner M,Lu XY,Sahoo T,Yanagawa Y,Beaudet AL,

更新日期：2009-02-01 00:00:00

abstract：:A single microarray can provide information on the expression of tens of thousands of genes. The amount of information generated by a microarray-based experiment is sufficiently large that no single study can be expected to mine each nugget of scientific information. As a consequence, the scale and complexity of micro...

journal_title：Nature genetics

authors： Stoeckert CJ Jr,Causton HC,Ball CA

更新日期：2002-12-01 00:00:00

abstract：:The hindbrain roof plate and choroid plexus are essential organizing centers for inducing dorsal neuron fates and sustaining neuron function. To map the formation of these structures, we developed a broadly applicable, high resolution, recombinase-based method for mapping the fate of cells originating from coordinates...

journal_title：Nature genetics

authors： Awatramani R,Soriano P,Rodriguez C,Mai JJ,Dymecki SM

更新日期：2003-09-01 00:00:00

abstract：:A high-density haplotype map recently enabled a genome-wide association study (GWAS) in a population of indica subspecies of Chinese rice landraces. Here we extend this methodology to a larger and more diverse sample of 950 worldwide rice varieties, including the Oryza sativa indica and Oryza sativa japonica subspecie...

journal_title：Nature genetics

authors： Huang X,Zhao Y,Wei X,Li C,Wang A,Zhao Q,Li W,Guo Y,Deng L,Zhu C,Fan D,Lu Y,Weng Q,Liu K,Zhou T,Jing Y,Si L,Dong G,Huang T,Lu T,Feng Q,Qian Q,Li J,Han B

更新日期：2011-12-04 00:00:00

abstract：:Epidemic C. difficile (027/BI/NAP1) has rapidly emerged in the past decade as the leading cause of antibiotic-associated diarrhea worldwide. However, the key events in evolutionary history leading to its emergence and the subsequent patterns of global spread remain unknown. Here, we define the global population struct...

journal_title：Nature genetics

authors： He M,Miyajima F,Roberts P,Ellison L,Pickard DJ,Martin MJ,Connor TR,Harris SR,Fairley D,Bamford KB,D'Arc S,Brazier J,Brown D,Coia JE,Douce G,Gerding D,Kim HJ,Koh TH,Kato H,Senoh M,Louie T,Michell S,Butt E,Pea

更新日期：2013-01-01 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：: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：: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：:Dentinogenesis imperfecta (DGI) is characterized by discolored teeth with an opalescent sheen and dentin that fails to support enamel, causing it to easily chip. Two new studies show that DGI is associated with mutations in DSPP, a gene encoding dentin sialophosphoprotein that is processed into two proteins: dentin si...

journal_title：Nature genetics

authors： Patel P

更新日期：2001-02-01 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：: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：:Urolithiasis is one of the most common urologic diseases in industrialized societies. Calcium oxalate is the predominant component in 70-80% of kidney stones, and small changes in urinary oxalate concentration affect the risk of stone formation. SLC26A6 is an anion exchanger expressed on the apical membrane in many ep...

journal_title：Nature genetics

authors： Jiang Z,Asplin JR,Evan AP,Rajendran VM,Velazquez H,Nottoli TP,Binder HJ,Aronson PS

更新日期：2006-04-01 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