Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.

abstract：:We present a new statistical test of association between a trait and genetic markers, which we theoretically and practically prove to be robust to arbitrarily complex population structure. The statistical test involves a set of parameters that can be directly estimated from large-scale genotyping data, such as those m...

journal_title：Nature genetics

authors： Song M,Hao W,Storey JD

更新日期：2015-05-01 00:00:00

abstract：:Pancreatic cancer has the lowest survival rate among human cancers, and there are no effective markers for its screening and early diagnosis. To identify genetic susceptibility markers for this cancer, we carried out a genome-wide association study on 981 individuals with pancreatic cancer (cases) and 1,991 cancer-fre...

journal_title：Nature genetics

authors： Wu C,Miao X,Huang L,Che X,Jiang G,Yu D,Yang X,Cao G,Hu Z,Zhou Y,Zuo C,Wang C,Zhang X,Zhou Y,Yu X,Dai W,Li Z,Shen H,Liu L,Chen Y,Zhang S,Wang X,Zhai K,Chang J,Liu Y,Sun M,Cao W,Gao J,Ma Y,Zheng X

更新日期：2011-12-11 00:00:00

abstract：:Because only a small fraction of asbestos-exposed individuals develop malignant mesothelioma, and because mesothelioma clustering is observed in some families, we searched for genetic predisposing factors. We discovered germline mutations in the gene encoding BRCA1 associated protein-1 (BAP1) in two families with a hi...

journal_title：Nature genetics

authors： Testa JR,Cheung M,Pei J,Below JE,Tan Y,Sementino E,Cox NJ,Dogan AU,Pass HI,Trusa S,Hesdorffer M,Nasu M,Powers A,Rivera Z,Comertpay S,Tanji M,Gaudino G,Yang H,Carbone M

更新日期：2011-08-28 00:00:00

abstract：:We aimed to identify genetic variants associated with heart failure by using a rat model of the human disease. We performed invasive cardiac hemodynamic measurements in F2 crosses between spontaneously hypertensive heart failure (SHHF) rats and reference strains. We combined linkage analyses with genome-wide expressio...

journal_title：Nature genetics

authors： Monti J,Fischer J,Paskas S,Heinig M,Schulz H,Gösele C,Heuser A,Fischer R,Schmidt C,Schirdewan A,Gross V,Hummel O,Maatz H,Patone G,Saar K,Vingron M,Weldon SM,Lindpaintner K,Hammock BD,Rohde K,Dietz R,Cook SA,Sc

更新日期：2008-05-01 00:00:00

abstract：:Most errors that arise during DNA replication can be corrected by DNA polymerase proofreading or by post-replication mismatch repair (MMR). Inactivation of both mutation-avoidance systems results in extremely high mutability that can lead to error catastrophe. High mutability and the likelihood of cancer can be caused...

journal_title：Nature genetics

authors： Jin YH,Clark AB,Slebos RJ,Al-Refai H,Taylor JA,Kunkel TA,Resnick MA,Gordenin DA

更新日期：2003-07-01 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：: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：: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：:Motile cilia induce fluid movement through their rhythmic beating activity. In mammals, the transcription factor Foxj1 has been implicated in motile cilia formation. Here we show that a zebrafish Foxj1 homolog, foxj1a, is a target of Hedgehog signaling in the floor plate. Loss of Foxj1a compromises the assembly of mot...

journal_title：Nature genetics

authors： Yu X,Ng CP,Habacher H,Roy S

更新日期：2008-12-01 00:00:00

abstract：:Human Menkes disease and the murine Mottled phenotype are X-linked diseases that result from copper deficiency due to mutations in a copper-effluxing ATPase, designated ATP7A. Male mice with the Mottled-Brindled allele (Mo-brJ) accumulate copper in the intestine, fail to export copper to peripheral organs and die a fe...

journal_title：Nature genetics

authors： Kelly EJ,Palmiter RD

更新日期：1996-06-01 00:00:00

abstract：:Genome-wide association studies have identified common variants that only partially explain the genetic risk for type 2 diabetes (T2D). Using genome-wide association data from 1,376 French individuals, we identified 16,360 SNPs nominally associated with T2D and studied these SNPs in an independent sample of 4,977 Fren...

journal_title：Nature genetics

authors： Rung J,Cauchi S,Albrechtsen A,Shen L,Rocheleau G,Cavalcanti-Proença C,Bacot F,Balkau B,Belisle A,Borch-Johnsen K,Charpentier G,Dina C,Durand E,Elliott P,Hadjadj S,Järvelin MR,Laitinen J,Lauritzen T,Marre M,Mazur A,

更新日期：2009-10-01 00:00:00

abstract：:Sudden cardiac death from ventricular fibrillation during acute myocardial infarction is a leading cause of total and cardiovascular mortality. To our knowledge, we here report the first genome-wide association study for this trait, conducted in a set of 972 individuals with a first acute myocardial infarction, 515 of...

journal_title：Nature genetics

authors： Bezzina CR,Pazoki R,Bardai A,Marsman RF,de Jong JSSG,Blom MT,Scicluna BP,Jukema JW,Bindraban NR,Lichtner P,Pfeufer A,Bishopric NH,Roden DM,Meitinger T,Chugh SS,Myerburg RJ,Jouven X,Kääb S,Dekker LRC,Tan HL,Tanck M

更新日期：2010-08-01 00:00:00

abstract：:The overwhelming number of genetic alterations identified through cancer genome sequencing requires complementary approaches to interpret their significance and interactions. Here we developed a novel whole-body insertional mutagenesis screen in mice, which was designed for the discovery of Pten-cooperating tumor supp...

journal_title：Nature genetics

authors： de la Rosa J,Weber J,Friedrich MJ,Li Y,Rad L,Ponstingl H,Liang Q,de Quirós SB,Noorani I,Metzakopian E,Strong A,Li MA,Astudillo A,Fernández-García MT,Fernández-García MS,Hoffman GJ,Fuente R,Vassiliou GS,Rad R,López-O

更新日期：2017-05-01 00:00:00

abstract：:The mitochondrial (mt) DNA depletion syndromes (MDDS) are genetic disorders characterized by a severe, tissue-specific decrease of mtDNA copy number, leading to organ failure. There are two main clinical presentations: myopathic (OMIM 609560) and hepatocerebral (OMIM 251880). Known mutant genes, including TK2, SUCLA2,...

journal_title：Nature genetics

authors： Spinazzola A,Viscomi C,Fernandez-Vizarra E,Carrara F,D'Adamo P,Calvo S,Marsano RM,Donnini C,Weiher H,Strisciuglio P,Parini R,Sarzi E,Chan A,DiMauro S,Rötig A,Gasparini P,Ferrero I,Mootha VK,Tiranti V,Zeviani M

更新日期：2006-05-01 00:00:00

abstract：:Copy number variations (CNVs) often include noncoding sequences and putative enhancers, but how these rearrangements induce disease is poorly understood. Here we investigate CNVs involving the regulatory landscape of IHH (encoding Indian hedgehog), which cause multiple, highly localized phenotypes including craniosyno...

journal_title：Nature genetics

authors： Will AJ,Cova G,Osterwalder M,Chan WL,Wittler L,Brieske N,Heinrich V,de Villartay JP,Vingron M,Klopocki E,Visel A,Lupiáñez DG,Mundlos S

更新日期：2017-10-01 00:00:00

abstract：:Charcot-Marie-Tooth disease type 1B (CMT1B) is genetically linked to chromosome 1q21-23. The major peripheral myelin protein gene, P0, has been cloned and localized to the same chromosomal region. P0 is a 28 kDa glycoprotein involved in the compaction of the multilamellar myelin sheet and accounts for more than half o...

journal_title：Nature genetics

authors： Kulkens T,Bolhuis PA,Wolterman RA,Kemp S,te Nijenhuis S,Valentijn LJ,Hensels GW,Jennekens FG,de Visser M,Hoogendijk JE

更新日期：1993-09-01 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：:We present an approximate conditional and joint association analysis that can use summary-level statistics from a meta-analysis of genome-wide association studies (GWAS) and estimated linkage disequilibrium (LD) from a reference sample with individual-level genotype data. Using this method, we analyzed meta-analysis s...

journal_title：Nature genetics

authors： Yang J,Ferreira T,Morris AP,Medland SE,Genetic Investigation of ANthropometric Traits (GIANT) Consortium.,DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium.,Madden PA,Heath AC,Martin NG,Montgomery GW,Weedon MN,Lo

更新日期：2012-03-18 00:00:00

abstract：:Low-coverage whole-genome sequencing followed by imputation has been proposed as a cost-effective genotyping approach for disease and population genetics studies. However, its competitiveness against SNP arrays is undermined because current imputation methods are computationally expensive and unable to leverage large ...

journal_title：Nature genetics

authors： Rubinacci S,Ribeiro DM,Hofmeister RJ,Delaneau O

更新日期：2021-01-01 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：:The mammalian TET enzymes catalyze DNA demethylation. While they have been intensely studied as major epigenetic regulators, little is known about their physiological roles and the extent of functional redundancy following embryo implantation. Here we define non-redundant roles for TET1 at an early postimplantation st...

journal_title：Nature genetics

authors： Khoueiry R,Sohni A,Thienpont B,Luo X,Velde JV,Bartoccetti M,Boeckx B,Zwijsen A,Rao A,Lambrechts D,Koh KP

更新日期：2017-07-01 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：:Thomsen's disease (autosomal dominant myotonia congenita) has recently been linked to chromosome 7q35 in the region of the human skeletal muscle chloride channel gene (HUMCLC). Single strand conformation polymorphism analysis (SSCP) was used to screen DNA from members of four unrelated pedigrees with this disorder for...

journal_title：Nature genetics

authors： George AL Jr,Crackower MA,Abdalla JA,Hudson AJ,Ebers GC

更新日期：1993-04-01 00:00:00

abstract：:Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyot...

journal_title：Nature genetics

authors： Redin C,Brand H,Collins RL,Kammin T,Mitchell E,Hodge JC,Hanscom C,Pillalamarri V,Seabra CM,Abbott MA,Abdul-Rahman OA,Aberg E,Adley R,Alcaraz-Estrada SL,Alkuraya FS,An Y,Anderson MA,Antolik C,Anyane-Yeboa K,Atkin JF

更新日期：2017-01-01 00:00:00

abstract：:We defined the genetic landscape of balanced chromosomal rearrangements at nucleotide resolution by sequencing 141 breakpoints from cytogenetically interpreted translocations and inversions. We confirm that the recently described phenomenon of 'chromothripsis' (massive chromosomal shattering and reorganization) is not...

journal_title：Nature genetics

authors： Chiang C,Jacobsen JC,Ernst C,Hanscom C,Heilbut A,Blumenthal I,Mills RE,Kirby A,Lindgren AM,Rudiger SR,McLaughlan CJ,Bawden CS,Reid SJ,Faull RL,Snell RG,Hall IM,Shen Y,Ohsumi TK,Borowsky ML,Daly MJ,Lee C,Morton C

更新日期：2012-03-04 00:00:00

abstract：:Long interspersed elements (LINE-1s) are abundant retrotransposons in mammalian genomes that probably retrotranspose by target site-primed reverse transcription (TPRT). During TPRT, the LINE-1 endonuclease cleaves genomic DNA, freeing a 3' hydroxyl that serves as a primer for reverse transcription of LINE-1 RNA by LIN...

journal_title：Nature genetics

authors： Morrish TA,Gilbert N,Myers JS,Vincent BJ,Stamato TD,Taccioli GE,Batzer MA,Moran JV

更新日期：2002-06-01 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：:To further understanding of the genetic basis of type 2 diabetes (T2D) susceptibility, we aggregated published meta-analyses of genome-wide association studies (GWAS), including 26,488 cases and 83,964 controls of European, east Asian, south Asian and Mexican and Mexican American ancestry. We observed a significant ex...

journal_title：Nature genetics

authors： DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium.,Asian Genetic Epidemiology Network Type 2 Diabetes (AGEN-T2D) Consortium.,South Asian Type 2 Diabetes (SAT2D) Consortium.,Mexican American Type 2 Diabetes (MAT2D) Consortium.,

更新日期：2014-03-01 00:00:00

abstract：:We present here a Sleeping Beauty-based transposition system that offers a simple and efficient way to investigate the regulatory architecture of mammalian chromosomes in vivo. With this system, we generated several hundred mice and embryos, each with a regulatory sensor inserted at a random genomic position. This lar...

journal_title：Nature genetics

authors： Ruf S,Symmons O,Uslu VV,Dolle D,Hot C,Ettwiller L,Spitz F

更新日期：2011-03-20 00:00:00

abstract：:Pulmonary function measures reflect respiratory health and are used in the diagnosis of chronic obstructive pulmonary disease. We tested genome-wide association with forced expiratory volume in 1 second and the ratio of forced expiratory volume in 1 second to forced vital capacity in 48,201 individuals of European anc...

journal_title：Nature genetics

authors： Soler Artigas M,Loth DW,Wain LV,Gharib SA,Obeidat M,Tang W,Zhai G,Zhao JH,Smith AV,Huffman JE,Albrecht E,Jackson CM,Evans DM,Cadby G,Fornage M,Manichaikul A,Lopez LM,Johnson T,Aldrich MC,Aspelund T,Barroso I,Cam

更新日期：2011-09-25 00:00:00