Testing for genetic associations in arbitrarily structured populations.

abstract：:The early development of blood vessels consists of two phases, vasculogenesis and angiogenesis, which involve distinct and also overlapping molecular regulators, but the intracellular signal transduction pathways involved in these processes have not been well defined. We disrupted Map3k3 (also known as Mekk3), which e...

journal_title：Nature genetics

authors： Yang J,Boerm M,McCarty M,Bucana C,Fidler IJ,Zhuang Y,Su B

更新日期：2000-03-01 00:00:00

abstract：:The Wellcome Trust Case Control Consortium (WTCCC) primary genome-wide association (GWA) scan on seven diseases, including the multifactorial autoimmune disease type 1 diabetes (T1D), shows associations at P < 5 x 10(-7) between T1D and six chromosome regions: 12q24, 12q13, 16p13, 18p11, 12p13 and 4q27. Here, we attem...

journal_title：Nature genetics

authors： Todd JA,Walker NM,Cooper JD,Smyth DJ,Downes K,Plagnol V,Bailey R,Nejentsev S,Field SF,Payne F,Lowe CE,Szeszko JS,Hafler JP,Zeitels L,Yang JH,Vella A,Nutland S,Stevens HE,Schuilenburg H,Coleman G,Maisuria M,Meado

更新日期：2007-07-01 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：:Osteoarthritis is the most common form of human arthritis. We investigated the potential role of asporin, an extracellular matrix component expressed abundantly in the articular cartilage of individuals with osteoarthritis, in the pathogenesis of osteoarthritis. Here we report a significant association between a polym...

journal_title：Nature genetics

authors： Kizawa H,Kou I,Iida A,Sudo A,Miyamoto Y,Fukuda A,Mabuchi A,Kotani A,Kawakami A,Yamamoto S,Uchida A,Nakamura K,Notoya K,Nakamura Y,Ikegawa S

更新日期：2005-02-01 00:00:00

abstract：:The stress hormone-regulating hypothalamic-pituitary-adrenal (HPA) axis has been implicated in the causality as well as the treatment of depression. To investigate a possible association between genes regulating the HPA axis and response to antidepressants and susceptibility for depression, we genotyped single-nucleot...

journal_title：Nature genetics

authors： Binder EB,Salyakina D,Lichtner P,Wochnik GM,Ising M,Pütz B,Papiol S,Seaman S,Lucae S,Kohli MA,Nickel T,Künzel HE,Fuchs B,Majer M,Pfennig A,Kern N,Brunner J,Modell S,Baghai T,Deiml T,Zill P,Bondy B,Rupprecht R

更新日期：2004-12-01 00:00:00

abstract：:Schwartz-Jampel syndrome (SJS1) is a rare autosomal recessive disorder characterized by permanent myotonia (prolonged failure of muscle relaxation) and skeletal dysplasia, resulting in reduced stature, kyphoscoliosis, bowing of the diaphyses and irregular epiphyses. Electromyographic investigations reveal repetitive m...

journal_title：Nature genetics

authors： Nicole S,Davoine CS,Topaloglu H,Cattolico L,Barral D,Beighton P,Hamida CB,Hammouda H,Cruaud C,White PS,Samson D,Urtizberea JA,Lehmann-Horn F,Weissenbach J,Hentati F,Fontaine B

更新日期：2000-12-01 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：: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：:The CRISPR-Cas9 system enables global screens of gene function with high sensitivity and specificity, but off-target effects have been reported for CRISPR guide RNAs targeting genes that are amplified at high copy number. A new study describes a computational approach to correct for this copy number effect, increasing...

journal_title：Nature genetics

authors： Shen JP,Ideker T

更新日期：2017-11-29 00:00:00

abstract：:Hirschsprung disease (HSCR) is a frequent congenital disorder (1 in 5,000 newborns) of unknown origin characterized by the absence of parasympathetic intrinsic ganglion cells of the hindgut. Taking advantage of a proximal deletion of chromosome 10q (del 10q11.2-q21.2) in a patient with total colonic aganglionosis, and...

journal_title：Nature genetics

authors： Lyonnet S,Bolino A,Pelet A,Abel L,Nihoul-Fékété C,Briard ML,Mok-Siu V,Kaariainen H,Martucciello G,Lerone M,Puliti A,Luo Y,Weissenbach J,Devoto M,Munnich A,Romeo G

更新日期：1993-08-01 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：:Through whole-genome sequencing of 2,230 Icelanders, we detected a rare nonsynonymous SNP (minor allele frequency = 0.55%) in the C3 gene encoding a p.Lys155Gln substitution in complement factor 3, which, following imputation into a set of Icelandic cases with age-related macular degeneration (AMD) and controls, assoc...

journal_title：Nature genetics

authors： Helgason H,Sulem P,Duvvari MR,Luo H,Thorleifsson G,Stefansson H,Jonsdottir I,Masson G,Gudbjartsson DF,Walters GB,Magnusson OT,Kong A,Rafnar T,Kiemeney LA,Schoenmaker-Koller FE,Zhao L,Boon CJ,Song Y,Fauser S,Pei M,

更新日期：2013-11-01 00:00:00

abstract：:The lipodystrophies are a group of disorders characterized by the absence or reduction of subcutaneous adipose tissue. Partial lipodystrophy (PLD; MIM 151660) is an inherited condition in which a regional (trunk and limbs) loss of fat occurs during the peri-pubertal phase. Additionally, variable degrees of resistance ...

journal_title：Nature genetics

authors： Shackleton S,Lloyd DJ,Jackson SN,Evans R,Niermeijer MF,Singh BM,Schmidt H,Brabant G,Kumar S,Durrington PN,Gregory S,O'Rahilly S,Trembath RC

更新日期：2000-02-01 00:00:00

abstract：:Retrotransposition affects genome structure by increasing repetition and producing insertional mutations. Dispersion of the retrotransposon L1 throughout mammalian genomes suggests that L1 activity might be an important evolutionary force. Here we report that L1 retrotransposition contributes to rapid genome evolution...

journal_title：Nature genetics

authors： DeBerardinis RJ,Goodier JL,Ostertag EM,Kazazian HH Jr

更新日期：1998-11-01 00:00:00

abstract：:In the HTML version of this article initially published, the name of author Diletta Di Mitri was miscoded in the XML such that Di was included as part of the given name instead of the family name. The error has been corrected in the HTML version of the article. ...

journal_title：Nature genetics

authors： Chen J,Guccini I,Di Mitri D,Brina D,Revandkar A,Sarti M,Pasquini E,Alajati A,Pinton S,Losa M,Civenni G,Catapano CV,Sgrignani J,Cavalli A,D'Antuono R,Asara JM,Morandi A,Chiarugi P,Crotti S,Agostini M,Montopoli M,

更新日期：2018-09-01 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：:We have genetically retrieved, resurrected and performed detailed structure-function analyses on authentic woolly mammoth hemoglobin to reveal for the first time both the evolutionary origins and the structural underpinnings of a key adaptive physiochemical trait in an extinct species. Hemoglobin binds and carries O(2...

journal_title：Nature genetics

authors： Campbell KL,Roberts JE,Watson LN,Stetefeld J,Sloan AM,Signore AV,Howatt JW,Tame JR,Rohland N,Shen TJ,Austin JJ,Hofreiter M,Ho C,Weber RE,Cooper A

更新日期：2010-06-01 00:00:00

abstract：:We performed a genome-wide association study of non-Hispanic, white individuals with fibrotic idiopathic interstitial pneumonias (IIPs; n = 1,616) and controls (n = 4,683), with follow-up replication analyses in 876 cases and 1,890 controls. We confirmed association with TERT at 5p15, MUC5B at 11p15 and the 3q26 regio...

journal_title：Nature genetics

authors： Fingerlin TE,Murphy E,Zhang W,Peljto AL,Brown KK,Steele MP,Loyd JE,Cosgrove GP,Lynch D,Groshong S,Collard HR,Wolters PJ,Bradford WZ,Kossen K,Seiwert SD,du Bois RM,Garcia CK,Devine MS,Gudmundsson G,Isaksson HJ,Kami

更新日期：2013-06-01 00:00:00

abstract：:We have carried out automated extraction of explicit and implicit biomedical knowledge from publicly available gene and text databases to create a gene-to-gene co-citation network for 13,712 named human genes by automated analysis of titles and abstracts in over 10 million MEDLINE records. The associations between gen...

journal_title：Nature genetics

authors： Jenssen TK,Laegreid A,Komorowski J,Hovig E

更新日期：2001-05-01 00:00:00

abstract：:Methylation of cytosines within the sequence CpG is essential for mouse development and has been linked to transcriptional suppression in vertebrate systems. Methyl-CpG binding proteins (MeCPs) 1 and 2 bind preferentially to methylated DNA and can inhibit transcription. The gene for MeCP2 has been cloned and a methyl-...

journal_title：Nature genetics

authors： Cross SH,Meehan RR,Nan X,Bird A

更新日期：1997-07-01 00:00:00

abstract：:The Syrian cardiomyopathic hamster (BIO14.6) has an inherited form of progressive myocardial necrosis and congestive heart failure. Although widely studied as an animal model for human hypertrophic cardiomyopathy, further genetic analysis has been limited by a scarcity of DNA markers. Until now, only six autosomal lin...

journal_title：Nature genetics

authors： Okazaki Y,Okuizumi H,Ohsumi T,Nomura O,Takada S,Kamiya M,Sasaki N,Matsuda Y,Nishimura M,Tagaya O,Muramatsu M,Hayashizaki Y

更新日期：1996-05-01 00:00:00

abstract：:High rates of APOBEC-signature mutations are found in many tumors, but factors affecting this mutation pattern are not well understood. Here we explored the contribution of two common germline variants in the APOBEC3 region. SNP rs1014971 was associated with bladder cancer risk, increased APOBEC3B expression, and enri...

journal_title：Nature genetics

authors： Middlebrooks CD,Banday AR,Matsuda K,Udquim KI,Onabajo OO,Paquin A,Figueroa JD,Zhu B,Koutros S,Kubo M,Shuin T,Freedman ND,Kogevinas M,Malats N,Chanock SJ,Garcia-Closas M,Silverman DT,Rothman N,Prokunina-Olsson L

更新日期：2016-11-01 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：:We identified homozygous truncating mutations in HOXA1 in three genetically isolated human populations. The resulting phenotype includes horizontal gaze abnormalities, deafness, facial weakness, hypoventilation, vascular malformations of the internal carotid arteries and cardiac outflow tract, mental retardation and a...

journal_title：Nature genetics

authors： Tischfield MA,Bosley TM,Salih MA,Alorainy IA,Sener EC,Nester MJ,Oystreck DT,Chan WM,Andrews C,Erickson RP,Engle EC

更新日期：2005-10-01 00:00:00

abstract：:Cells respond to stimuli by changes in various processes, including signaling pathways and gene expression. Efforts to identify components of these responses increasingly depend on mRNA profiling and genetic library screens. By comparing the results of these two assays across various stimuli, we found that genetic scr...

journal_title：Nature genetics

authors： Yeger-Lotem E,Riva L,Su LJ,Gitler AD,Cashikar AG,King OD,Auluck PK,Geddie ML,Valastyan JS,Karger DR,Lindquist S,Fraenkel E

更新日期：2009-03-01 00:00:00

abstract：:Recent studies indicate that a subclass of APOBEC cytidine deaminases, which convert cytosine to uracil during RNA editing and retrovirus or retrotransposon restriction, may induce mutation clusters in human tumors. We show here that throughout cancer genomes APOBEC-mediated mutagenesis is pervasive and correlates wit...

journal_title：Nature genetics

authors： Roberts SA,Lawrence MS,Klimczak LJ,Grimm SA,Fargo D,Stojanov P,Kiezun A,Kryukov GV,Carter SL,Saksena G,Harris S,Shah RR,Resnick MA,Getz G,Gordenin DA

更新日期：2013-09-01 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：:Endometriosis is a common gynecological disease associated with pelvic pain and subfertility. We conducted a genome-wide association study (GWAS) in 3,194 individuals with surgically confirmed endometriosis (cases) and 7,060 controls from Australia and the UK. Polygenic predictive modeling showed significantly increas...

journal_title：Nature genetics

authors： Painter JN,Anderson CA,Nyholt DR,Macgregor S,Lin J,Lee SH,Lambert A,Zhao ZZ,Roseman F,Guo Q,Gordon SD,Wallace L,Henders AK,Visscher PM,Kraft P,Martin NG,Morris AP,Treloar SA,Kennedy SH,Missmer SA,Montgomery GW,Z

更新日期：2011-01-01 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：:Dominant mutations in the MORC2 gene have recently been shown to cause axonal Charcot-Marie-Tooth (CMT) disease, but the cellular function of MORC2 is poorly understood. Here, through a genome-wide CRISPR-Cas9-mediated forward genetic screen, we identified MORC2 as an essential gene required for epigenetic silencing b...

journal_title：Nature genetics

authors： Tchasovnikarova IA,Timms RT,Douse CH,Roberts RC,Dougan G,Kingston RE,Modis Y,Lehner PJ

更新日期：2017-07-01 00:00:00