ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating.

abstract：:It is now feasible to map disease genes by screening the genome for linkage disequilibrium between the disease and marker alleles. This report presents the first application of this approach for a previously unmapped locus. A gene for benign recurrent intrahepatic cholestasis (BRIC) was mapped to chromosome 18 by sear...

journal_title：Nature genetics

authors： Houwen RH,Baharloo S,Blankenship K,Raeymaekers P,Juyn J,Sandkuijl LA,Freimer NB

更新日期：1994-12-01 00:00:00

abstract：:Little is known about the genetic regulation of medulloblastoma dissemination, but metastatic medulloblastoma is highly associated with poor outcome. We obtained expression profiles of 23 primary medulloblastomas clinically designated as either metastatic (M+) or non-metastatic (M0) and identified 85 genes whose expre...

journal_title：Nature genetics

authors： MacDonald TJ,Brown KM,LaFleur B,Peterson K,Lawlor C,Chen Y,Packer RJ,Cogen P,Stephan DA

更新日期：2001-10-01 00:00:00

abstract：:Genome-wide association scans of complex multipartite traits like the human face typically use preselected phenotypic measures. Here we report a data-driven approach to phenotyping facial shape at multiple levels of organization, allowing for an open-ended description of facial variation while preserving statistical p...

journal_title：Nature genetics

authors： Claes P,Roosenboom J,White JD,Swigut T,Sero D,Li J,Lee MK,Zaidi A,Mattern BC,Liebowitz C,Pearson L,González T,Leslie EJ,Carlson JC,Orlova E,Suetens P,Vandermeulen D,Feingold E,Marazita ML,Shaffer JR,Wysocka J,Sh

更新日期：2018-03-01 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：:Translocation events are frequent in cancer and may create chimeric fusions or 'regulatory rearrangements' that drive oncogene overexpression. Here we identify super-enhancer translocations that drive overexpression of the oncogenic transcription factor MYB as a recurrent theme in adenoid cystic carcinoma (ACC). Whole...

journal_title：Nature genetics

authors： Drier Y,Cotton MJ,Williamson KE,Gillespie SM,Ryan RJ,Kluk MJ,Carey CD,Rodig SJ,Sholl LM,Afrogheh AH,Faquin WC,Queimado L,Qi J,Wick MJ,El-Naggar AK,Bradner JE,Moskaluk CA,Aster JC,Knoechel B,Bernstein BE

更新日期：2016-03-01 00:00:00

abstract：:The human genome sequence has been finished to very high standards; however, more than 340 gaps remained when the finished genome was published by the International Human Genome Sequencing Consortium in 2004. Using fosmid resources generated from multiple individuals, we targeted gaps in the euchromatic part of the hu...

journal_title：Nature genetics

authors： Bovee D,Zhou Y,Haugen E,Wu Z,Hayden HS,Gillett W,Tuzun E,Cooper GM,Sampas N,Phelps K,Levy R,Morrison VA,Sprague J,Jewett D,Buckley D,Subramaniam S,Chang J,Smith DR,Olson MV,Eichler EE,Kaul R

更新日期：2008-01-01 00:00:00

abstract：:The ages of puberty, first sexual intercourse and first birth signify the onset of reproductive ability, behavior and success, respectively. In a genome-wide association study of 125,667 UK Biobank participants, we identify 38 loci associated (P < 5 × 10(-8)) with age at first sexual intercourse. These findings were t...

journal_title：Nature genetics

authors： Day FR,Helgason H,Chasman DI,Rose LM,Loh PR,Scott RA,Helgason A,Kong A,Masson G,Magnusson OT,Gudbjartsson D,Thorsteinsdottir U,Buring JE,Ridker PM,Sulem P,Stefansson K,Ong KK,Perry JRB

更新日期：2016-06-01 00:00:00

abstract：:Haematopoietic development is regulated by nuclear protein complexes that coordinate lineage-specific patterns of gene expression. Targeted mutagenesis in embryonic stem cells and mice has revealed roles for the X-linked gene Gata1 in erythrocyte and megakaryocyte differentiation. GATA-1 is the founding member of a fa...

journal_title：Nature genetics

authors： Nichols KE,Crispino JD,Poncz M,White JG,Orkin SH,Maris JM,Weiss MJ

更新日期：2000-03-01 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：:The human gut microbiome plays a key role in human health 1 , but 16S characterization lacks quantitative functional annotation 2 . The fecal metabolome provides a functional readout of microbial activity and can be used as an intermediate phenotype mediating host-microbiome interactions 3 . In this comprehensive desc...

journal_title：Nature genetics

authors： Zierer J,Jackson MA,Kastenmüller G,Mangino M,Long T,Telenti A,Mohney RP,Small KS,Bell JT,Steves CJ,Valdes AM,Spector TD,Menni C

更新日期：2018-06-01 00:00:00

abstract：:Charcot-Marie-Tooth disease (CMT1) is the most common form of inherited peripheral neuropathy. Although the disease is genetically heterogeneous, it has been demonstrated that the gene defect is the most frequent type (CMT1A) is the result of a partial duplication of band 17p11.2. Recent studies suggested that the per...

journal_title：Nature genetics

authors： Timmerman V,Nelis E,Van Hul W,Nieuwenhuijsen BW,Chen KL,Wang S,Ben Othman K,Cullen B,Leach RJ,Hanemann CO

更新日期：1992-06-01 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：: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：:Sézary syndrome is a rare leukemic form of cutaneous T cell lymphoma characterized by generalized redness, scaling, itching and increased numbers of circulating atypical T lymphocytes. It is rarely curable, with poor prognosis. Here we present a multiplatform genomic analysis of 37 patients with Sézary syndrome that i...

journal_title：Nature genetics

authors： Wang L,Ni X,Covington KR,Yang BY,Shiu J,Zhang X,Xi L,Meng Q,Langridge T,Drummond J,Donehower LA,Doddapaneni H,Muzny DM,Gibbs RA,Wheeler DA,Duvic M

更新日期：2015-12-01 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：:The importance of individual microRNAs (miRNAs) has been established in specific cancers. However, a comprehensive analysis of the contribution of miRNAs to the pathogenesis of any specific cancer is lacking. Here we show that in T-cell acute lymphoblastic leukemia (T-ALL), a small set of miRNAs is responsible for the...

journal_title：Nature genetics

authors： Mavrakis KJ,Van Der Meulen J,Wolfe AL,Liu X,Mets E,Taghon T,Khan AA,Setty M,Rondou P,Vandenberghe P,Delabesse E,Benoit Y,Socci NB,Leslie CS,Van Vlierberghe P,Speleman F,Wendel HG

更新日期：2011-06-05 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：:MASA syndrome is a recessive X-linked disorder characterized by mental retardation, adducted thumbs, shuffling gait, aphasia and, in some cases, hydrocephalus. Since it has been shown that X-linked hydrocephalus can be caused by mutations in L1CAM, a neuronal cell adhesion molecule, we performed an L1CAM mutation anal...

journal_title：Nature genetics

authors： Vits L,Van Camp G,Coucke P,Fransen E,De Boulle K,Reyniers E,Korn B,Poustka A,Wilson G,Schrander-Stumpel C

更新日期：1994-07-01 00:00:00

abstract：:We identified three distinct mutations and six mutant alleles in GDAP1 in three families with axonal Charcot-Marie-Tooth (CMT) neuropathy and vocal cord paresis, which were previously linked to the CMT4A locus on chromosome 8q21.1. These results establish the molecular etiology of CMT4A (MIM 214400) and suggest that i...

journal_title：Nature genetics

authors： Cuesta A,Pedrola L,Sevilla T,García-Planells J,Chumillas MJ,Mayordomo F,LeGuern E,Marín I,Vílchez JJ,Palau F

更新日期：2002-01-01 00:00:00

abstract：:Charting differences between tumors and normal tissue is a mainstay of cancer research. However, clonal tumor expansion from complex normal tissue architectures potentially obscures cancer-specific events, including divergent epigenetic patterns. Using whole-genome bisulfite sequencing of normal B cell subsets, we obs...

journal_title：Nature genetics

authors： Oakes CC,Seifert M,Assenov Y,Gu L,Przekopowitz M,Ruppert AS,Wang Q,Imbusch CD,Serva A,Koser SD,Brocks D,Lipka DB,Bogatyrova O,Weichenhan D,Brors B,Rassenti L,Kipps TJ,Mertens D,Zapatka M,Lichter P,Döhner H,Küppe

更新日期：2016-03-01 00:00:00

abstract：:Notch and the m9/10 gene (groucho) of the Enhancer of split (E(spI)) complex are members of the "Notch group" of genes, which is required for a variety of cell fate choices in Drosophila. We have characterized human cDNA clones encoding a family of proteins, designated TLE, that are homologous to the E(spI) m9/10 gene...

journal_title：Nature genetics

authors： Stifani S,Blaumueller CM,Redhead NJ,Hill RE,Artavanis-Tsakonas S

更新日期：1992-10-01 00:00:00

abstract：:To further resolve the genetic architecture of the inflammatory bowel diseases ulcerative colitis and Crohn's disease, we sequenced the whole genomes of 4,280 patients at low coverage and compared them to 3,652 previously sequenced population controls across 73.5 million variants. We then imputed from these sequences ...

journal_title：Nature genetics

authors： Luo Y,de Lange KM,Jostins L,Moutsianas L,Randall J,Kennedy NA,Lamb CA,McCarthy S,Ahmad T,Edwards C,Serra EG,Hart A,Hawkey C,Mansfield JC,Mowat C,Newman WG,Nichols S,Pollard M,Satsangi J,Simmons A,Tremelling M,Uh

更新日期：2017-02-01 00:00:00

abstract：:N6-methyldeoxyadenine (6mA) is a noncanonical DNA base modification present at low levels in plant and animal genomes, but its prevalence and association with genome function in other eukaryotic lineages remains poorly understood. Here we report that abundant 6mA is associated with transcriptionally active genes in ea...

journal_title：Nature genetics

authors： Mondo SJ,Dannebaum RO,Kuo RC,Louie KB,Bewick AJ,LaButti K,Haridas S,Kuo A,Salamov A,Ahrendt SR,Lau R,Bowen BP,Lipzen A,Sullivan W,Andreopoulos BB,Clum A,Lindquist E,Daum C,Northen TR,Kunde-Ramamoorthy G,Schmitz RJ

更新日期：2017-06-01 00:00:00

abstract：:Wilson disease (WD) is an autosomal recessive disorder of copper transport which map to chromosome 13q14.3. In pursuit of the WD gene, we developed yeast artificial chromosome and cosmid contigs, and microsatellite markers which span the WD gene region. Linkage disequilibrium and haplotype analysis of 115 WD families ...

journal_title：Nature genetics

authors： Petrukhin K,Fischer SG,Pirastu M,Tanzi RE,Chernov I,Devoto M,Brzustowicz LM,Cayanis E,Vitale E,Russo JJ

更新日期：1993-12-01 00:00:00

abstract：:Ataxia with isolated vitamin E deficiency (AVED) is an autosomal recessive neurodegenerative disease which maps to chromosome 8q13. AVED patients have an impaired ability to incorporate alpha-tocopherol into lipoproteins secreted by the liver, a function putatively attributable to the alpha-tocopherol transfer protein...

journal_title：Nature genetics

authors： Ouahchi K,Arita M,Kayden H,Hentati F,Ben Hamida M,Sokol R,Arai H,Inoue K,Mandel JL,Koenig M

更新日期：1995-02-01 00:00:00

abstract：:Kawasaki disease is a pediatric systemic vasculitis of unknown etiology for which a genetic influence is suspected. We identified a functional SNP (itpkc_3) in the inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) gene on chromosome 19q13.2 that is significantly associated with Kawasaki disease susceptibility and also w...

journal_title：Nature genetics

authors： Onouchi Y,Gunji T,Burns JC,Shimizu C,Newburger JW,Yashiro M,Nakamura Y,Yanagawa H,Wakui K,Fukushima Y,Kishi F,Hamamoto K,Terai M,Sato Y,Ouchi K,Saji T,Nariai A,Kaburagi Y,Yoshikawa T,Suzuki K,Tanaka T,Nagai T,

更新日期：2008-01-01 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：:Autosomal dominant optic atrophy (ADOA) is the most prevalent hereditary optic neuropathy resulting in progressive loss of visual acuity, centrocoecal scotoma and bilateral temporal atrophy of the optic nerve with an onset within the first two decades of life. The predominant locus for this disorder (OPA1; MIM 165500)...

journal_title：Nature genetics

authors： Alexander C,Votruba M,Pesch UE,Thiselton DL,Mayer S,Moore A,Rodriguez M,Kellner U,Leo-Kottler B,Auburger G,Bhattacharya SS,Wissinger B

更新日期：2000-10-01 00:00:00

abstract：:In the version of this article initially published, '+' and '-' labels were missing from the graph keys at the bottom of Fig. 8d. The error has been corrected in the HTML and PDF versions of the article. ...

journal_title：Nature genetics

authors： Fanucchi S,Fok ET,Dalla E,Shibayama Y,Börner K,Chang EY,Stoychev S,Imakaev M,Grimm D,Wang KC,Li G,Sung WK,Mhlanga MM

更新日期：2019-02-01 00:00:00

abstract：:Facioscapulohumeral dystrophy (FSHD) is characterized by chromatin relaxation of the D4Z4 macrosatellite array on chromosome 4 and expression of the D4Z4-encoded DUX4 gene in skeletal muscle. The more common form, autosomal dominant FSHD1, is caused by contraction of the D4Z4 array, whereas the genetic determinants an...

journal_title：Nature genetics

authors： Lemmers RJ,Tawil R,Petek LM,Balog J,Block GJ,Santen GW,Amell AM,van der Vliet PJ,Almomani R,Straasheijm KR,Krom YD,Klooster R,Sun Y,den Dunnen JT,Helmer Q,Donlin-Smith CM,Padberg GW,van Engelen BG,de Greef JC,Aartsm

更新日期：2012-12-01 00:00:00