BMP signaling controls muscle mass.

abstract：:Although several lung cancer susceptibility loci have been identified, much of the heritability for lung cancer remains unexplained. Here 14,803 cases and 12,262 controls of European descent were genotyped on the OncoArray and combined with existing data for an aggregated genome-wide association study (GWAS) analysis ...

journal_title：Nature genetics

authors： McKay JD,Hung RJ,Han Y,Zong X,Carreras-Torres R,Christiani DC,Caporaso NE,Johansson M,Xiao X,Li Y,Byun J,Dunning A,Pooley KA,Qian DC,Ji X,Liu G,Timofeeva MN,Bojesen SE,Wu X,Le Marchand L,Albanes D,Bickeböller H

更新日期：2017-07-01 00:00:00

abstract：:Hereditary dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurologic disorder characterized by variable combinations of myoclonus, epilepsy, cerebellar ataxia, choreoathetosis and dementia. By specifically searching published brain cDNA sequences for the presence of CAG repeats we identified uns...

journal_title：Nature genetics

authors： Koide R,Ikeuchi T,Onodera O,Tanaka H,Igarashi S,Endo K,Takahashi H,Kondo R,Ishikawa A,Hayashi T

更新日期：1994-01-01 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：:A new approach for the isolation of chromosome-specific subsets from a human genomic yeast artificial chromosome (YAC) library is described. It is based on the hybridization with an Alu polymerase chain reaction (PCR) probe. We screened a 1.5 genome equivalent YAC library of megabase insert size with Alu PCR products ...

journal_title：Nature genetics

authors： Chumakov IM,Le Gall I,Billault A,Ougen P,Soularue P,Guillou S,Rigault P,Bui H,De Tand MF,Barillot E

更新日期：1992-06-01 00:00:00

abstract：:Linkage disequilibrium (LD), the nonrandom occurrence of alleles in haplotypes, has long been of interest to population geneticists. Recently, the rapidly increasing availability of genomic polymorphism data has fueled interest in LD as a tool for fine-scale mapping, in particular for human disease loci. The chromosom...

journal_title：Nature genetics

authors： Nordborg M,Borevitz JO,Bergelson J,Berry CC,Chory J,Hagenblad J,Kreitman M,Maloof JN,Noyes T,Oefner PJ,Stahl EA,Weigel D

更新日期：2002-02-01 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：: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：:Green toads are common in the Palaearctic region, where they have differentiated into several taxa. The toads exist with variable amounts of ploidy, similar to other anuran species or reptiles. In vertebrate biology, the very rare occurrence of triploidy is coupled with infertility or unisexuality, or requires the coe...

journal_title：Nature genetics

authors： Stöck M,Lamatsch DK,Steinlein C,Epplen JT,Grosse WR,Hock R,Klapperstück T,Lampert KP,Scheer U,Schmid M,Schartl M

更新日期：2002-03-01 00:00:00

abstract：: ...

journal_title：Nature genetics

authors： Werner B,Williams MJ,Barnes CP,Graham TA,Sottoriva A

更新日期：2018-12-01 00:00:00

abstract：:Genetic recombination is a major force driving the evolution of many viruses. Recombination between two copackaged retroviral genomes may occur at rates as high as 40% per replication cycle. This enables genetic information to be shuffled rapidly, leading to recombinants with new patterns of mutations and phenotypes. ...

journal_title：Nature genetics

authors： Soong NW,Nomura L,Pekrun K,Reed M,Sheppard L,Dawes G,Stemmer WP

更新日期：2000-08-01 00:00:00

abstract：:Crosstalk between signaling pathways is crucial for the generation of complex and varied transcriptional networks. Antagonism between the EGF-receptor (EGFR) and Notch pathways in particular is well documented, although the underlying mechanism is poorly understood. The global corepressor Groucho (Gro) and its transdu...

journal_title：Nature genetics

authors： Hasson P,Egoz N,Winkler C,Volohonsky G,Jia S,Dinur T,Volk T,Courey AJ,Paroush Z

更新日期：2005-01-01 00:00:00

abstract：:CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping microdeletion on chromosome 8q12 identified by array comparative genomic hybridization in two individuals with CHARGE syndrome. Sequence analysis of genes located in this r...

journal_title：Nature genetics

authors： Vissers LE,van Ravenswaaij CM,Admiraal R,Hurst JA,de Vries BB,Janssen IM,van der Vliet WA,Huys EH,de Jong PJ,Hamel BC,Schoenmakers EF,Brunner HG,Veltman JA,van Kessel AG

更新日期：2004-09-01 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：:Breast carcinoma is the most common malignancy among women in developed countries. Because family history remains the strongest single predictor of breast cancer risk, attention has focused on the role of highly penetrant, dominantly inherited genes in cancer-prone kindreds (1). BRCA1 was localized to chromosome 17 th...

journal_title：Nature genetics

authors： Tavtigian SV,Simard J,Rommens J,Couch F,Shattuck-Eidens D,Neuhausen S,Merajver S,Thorlacius S,Offit K,Stoppa-Lyonnet D,Belanger C,Bell R,Berry S,Bogden R,Chen Q,Davis T,Dumont M,Frye C,Hattier T,Jammulapati S,Jane

更新日期：1996-03-01 00:00:00

abstract：:Walker-Warburg syndrome (WWS) is clinically defined as congenital muscular dystrophy that is accompanied by a variety of brain and eye malformations. It represents the most severe clinical phenotype in a spectrum of diseases associated with abnormal post-translational processing of a-dystroglycan that share a defect i...

journal_title：Nature genetics

authors： Willer T,Lee H,Lommel M,Yoshida-Moriguchi T,de Bernabe DB,Venzke D,Cirak S,Schachter H,Vajsar J,Voit T,Muntoni F,Loder AS,Dobyns WB,Winder TL,Strahl S,Mathews KD,Nelson SF,Moore SA,Campbell KP

更新日期：2012-05-01 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：:Trophoblast cells of the placenta are established at the blastocyst stage and differentiate into specialized subtypes after implantation. In mice, the outer layer of the placenta consists of trophoblast giant cells that invade the uterus and promote maternal blood flow to the implantation site by producing cytokines w...

journal_title：Nature genetics

authors： Anson-Cartwright L,Dawson K,Holmyard D,Fisher SJ,Lazzarini RA,Cross JC

更新日期：2000-07-01 00:00:00

abstract：:Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis (Ollier and Maffucci diseases). Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to chondrosarcoma. The extent of skeletal inv...

journal_title：Nature genetics

authors： Hopyan S,Gokgoz N,Poon R,Gensure RC,Yu C,Cole WG,Bell RS,Jüppner H,Andrulis IL,Wunder JS,Alman BA

更新日期：2002-03-01 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：:Comparisons of chromosome X and the autosomes can illuminate differences in the histories of males and females as well as shed light on the forces of natural selection. We compared the patterns of variation in these parts of the genome using two datasets that we assembled for this study that are both genomic in scale....

journal_title：Nature genetics

authors： Keinan A,Mullikin JC,Patterson N,Reich D

更新日期：2009-01-01 00:00:00

abstract：:The goal of the Complex Trait Consortium is to promote the development of resources that can be used to understand, treat and ultimately prevent pervasive human diseases. Existing and proposed mouse resources that are optimized to study the actions of isolated genetic loci on a fixed background are less effective for ...

journal_title：Nature genetics

authors： Churchill GA,Airey DC,Allayee H,Angel JM,Attie AD,Beatty J,Beavis WD,Belknap JK,Bennett B,Berrettini W,Bleich A,Bogue M,Broman KW,Buck KJ,Buckler E,Burmeister M,Chesler EJ,Cheverud JM,Clapcote S,Cook MN,Cox RD,C

更新日期：2004-11-01 00:00:00

abstract：:Stress tolerance of the heart requires high-fidelity metabolic sensing by ATP-sensitive potassium (K(ATP)) channels that adjust membrane potential-dependent functions to match cellular energetic demand. Scanning of genomic DNA from individuals with heart failure and rhythm disturbances due to idiopathic dilated cardio...

journal_title：Nature genetics

authors： Bienengraeber M,Olson TM,Selivanov VA,Kathmann EC,O'Cochlain F,Gao F,Karger AB,Ballew JD,Hodgson DM,Zingman LV,Pang YP,Alekseev AE,Terzic A

更新日期：2004-04-01 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：:Methylation of DNA at the dinucleotide CpG is essential for mammalian development and is correlated with stable transcriptional silencing. This transcriptional silencing has recently been linked at a molecular level to histone deacetylation through the demonstration of a physical association between histone deacetylas...

journal_title：Nature genetics

authors： Wade PA,Gegonne A,Jones PL,Ballestar E,Aubry F,Wolffe AP

更新日期：1999-09-01 00:00:00

abstract：:Both polygenicity (many small genetic effects) and confounding biases, such as cryptic relatedness and population stratification, can yield an inflated distribution of test statistics in genome-wide association studies (GWAS). However, current methods cannot distinguish between inflation from a true polygenic signal a...

journal_title：Nature genetics

authors： Bulik-Sullivan BK,Loh PR,Finucane HK,Ripke S,Yang J,Schizophrenia Working Group of the Psychiatric Genomics Consortium.,Patterson N,Daly MJ,Price AL,Neale BM

更新日期：2015-03-01 00:00:00

abstract：:After imputation of data from the 1000 Genomes Project into a genome-wide dataset of Ghanaian individuals with tuberculosis and controls, we identified a resistance locus on chromosome 11p13 downstream of the WT1 gene (encoding Wilms tumor 1). The strongest signal was obtained at the rs2057178 SNP (P = 2.63 × 10(-9))....

journal_title：Nature genetics

authors： Thye T,Owusu-Dabo E,Vannberg FO,van Crevel R,Curtis J,Sahiratmadja E,Balabanova Y,Ehmen C,Muntau B,Ruge G,Sievertsen J,Gyapong J,Nikolayevskyy V,Hill PC,Sirugo G,Drobniewski F,van de Vosse E,Newport M,Alisjahbana B,

更新日期：2012-02-05 00:00:00

abstract：:We report the 207-Mb genome sequence of the North American Arabidopsis lyrata strain MN47 based on 8.3× dideoxy sequence coverage. We predict 32,670 genes in this outcrossing species compared to the 27,025 genes in the selfing species Arabidopsis thaliana. The much smaller 125-Mb genome of A. thaliana, which diverged ...

journal_title：Nature genetics

authors： Hu TT,Pattyn P,Bakker EG,Cao J,Cheng JF,Clark RM,Fahlgren N,Fawcett JA,Grimwood J,Gundlach H,Haberer G,Hollister JD,Ossowski S,Ottilar RP,Salamov AA,Schneeberger K,Spannagl M,Wang X,Yang L,Nasrallah ME,Bergelson J

更新日期：2011-05-01 00:00:00

abstract：:Non-insulin-dependent (type II) diabetes mellitus (NIDDM) is characterized by hyperglycaemia and insulin resistance, and affects nearly 5% of the general population. Inherited factors are important for its development, but the genes involved are unknown. We have identified a large pedigree in which NIDDM, in combinati...

journal_title：Nature genetics

authors： van den Ouweland JM,Lemkes HH,Ruitenbeek W,Sandkuijl LA,de Vijlder MF,Struyvenberg PA,van de Kamp JJ,Maassen JA

更新日期：1992-08-01 00:00:00

abstract：:Using homozygosity mapping and locus resequencing, we found that alterations in the homeodomain of the IRX5 transcription factor cause a recessive congenital disorder affecting face, brain, blood, heart, bone and gonad development. We found through in vivo modeling in Xenopus laevis embryos that Irx5 modulates the mig...

journal_title：Nature genetics

authors： Bonnard C,Strobl AC,Shboul M,Lee H,Merriman B,Nelson SF,Ababneh OH,Uz E,Güran T,Kayserili H,Hamamy H,Reversade B

更新日期：2012-05-13 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