The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains.

abstract：:Tumor mutational burden correlates with response to immune checkpoint blockade in multiple solid tumors, although in microsatellite-stable tumors this association is of uncertain clinical utility. Here we uniformly analyzed whole-exome sequencing (WES) of 249 tumors and matched normal tissue from patients with clinica...

journal_title：Nature genetics

authors： Miao D,Margolis CA,Vokes NI,Liu D,Taylor-Weiner A,Wankowicz SM,Adeegbe D,Keliher D,Schilling B,Tracy A,Manos M,Chau NG,Hanna GJ,Polak P,Rodig SJ,Signoretti S,Sholl LM,Engelman JA,Getz G,Jänne PA,Haddad RI,Chouei

更新日期：2018-09-01 00:00:00

abstract：:The deployment of heterosis in the form of hybrid rice varieties has boosted grain yield, but grain quality improvement still remains a challenge. Here we show that a quantitative trait locus for rice grain quality, qGW7, reflects allelic variation of GW7, a gene encoding a TONNEAU1-recruiting motif protein with simil...

journal_title：Nature genetics

authors： Wang S,Li S,Liu Q,Wu K,Zhang J,Wang S,Wang Y,Chen X,Zhang Y,Gao C,Wang F,Huang H,Fu X

更新日期：2015-08-01 00:00:00

abstract：:Most candidate drugs currently fail later-stage clinical trials, largely due to poor prediction of efficacy on early target selection1. Drug targets with genetic support are more likely to be therapeutically valid2,3, but the translational use of genome-scale data such as from genome-wide association studies for drug ...

journal_title：Nature genetics

authors： Fang H,ULTRA-DD Consortium.,De Wolf H,Knezevic B,Burnham KL,Osgood J,Sanniti A,Lledó Lara A,Kasela S,De Cesco S,Wegner JK,Handunnetthi L,McCann FE,Chen L,Sekine T,Brennan PE,Marsden BD,Damerell D,O'Callaghan CA,Boun

更新日期：2019-07-01 00:00:00

abstract：:The gene Ucp2 is a member of a family of genes found in animals and plants, encoding a protein homologous to the brown fat uncoupling protein Ucp1 (refs 1-3). As Ucp2 is widely expressed in mammalian tissues, uncouples respiration and resides within a region of genetic linkage to obesity, a role in energy dissipation ...

journal_title：Nature genetics

authors： Arsenijevic D,Onuma H,Pecqueur C,Raimbault S,Manning BS,Miroux B,Couplan E,Alves-Guerra MC,Goubern M,Surwit R,Bouillaud F,Richard D,Collins S,Ricquier D

更新日期：2000-12-01 00:00:00

abstract：:Testicular germ cell tumor (TGCT) is the most common cancer in young men and is notable for its high familial risks. So far, six loci associated with TGCT have been reported. From genome-wide association study (GWAS) analysis of 307,291 SNPs in 986 TGCT cases and 4,946 controls, we selected for follow-up 694 SNPs, whi...

journal_title：Nature genetics

authors： Ruark E,Seal S,McDonald H,Zhang F,Elliot A,Lau K,Perdeaux E,Rapley E,Eeles R,Peto J,Kote-Jarai Z,Muir K,Nsengimana J,Shipley J,UK Testicular Cancer Collaboration (UKTCC).,Bishop DT,Stratton MR,Easton DF,Huddart RA,R

更新日期：2013-06-01 00:00:00

abstract：:Glaucoma is the leading cause of irreversible blindness globally 1 . Despite its gravity, the disease is frequently undiagnosed in the community 2 . Raised intraocular pressure (IOP) is the most important risk factor for primary open-angle glaucoma (POAG)3,4. Here we present a meta-analysis of 139,555 European partici...

journal_title：Nature genetics

authors： Khawaja AP,Cooke Bailey JN,Wareham NJ,Scott RA,Simcoe M,Igo RP Jr,Song YE,Wojciechowski R,Cheng CY,Khaw PT,Pasquale LR,Haines JL,Foster PJ,Wiggs JL,Hammond CJ,Hysi PG,UK Biobank Eye and Vision Consortium.,NEIGHBORHOOD C

更新日期：2018-06-01 00:00:00

abstract：:The mutator hypothesis of tumorigenesis suggests that loss of chromosomal stability or maintenance functions results in elevated mutation rates, leading to the accumulation of the numerous mutations required for multistep carcinogenesis. The human DNA mismatch repair (MMR) genes are highly conserved homologues of the ...

journal_title：Nature genetics

authors： Cranston A,Bocker T,Reitmair A,Palazzo J,Wilson T,Mak T,Fishel R

更新日期：1997-09-01 00:00:00

abstract：:High resolution linkage maps have proven to be invaluable tools in genetic investigations. We have assembled a collection of genetic maps constructed from primary data collected from investigators performing genotyping using the Centre Etude Polymorphism Humain (CEPH) reference pedigree panel. These maps were construc...

journal_title：Nature genetics

authors： Buetow KH,Weber JL,Ludwigsen S,Scherpbier-Heddema T,Duyk GM,Sheffield VC,Wang Z,Murray JC

更新日期：1994-04-01 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：: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：: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：:Detailed analyses of the clone-based genome assembly reveal that the recent duplication content of mouse (4.94%) is now comparable to that of human (5.5%), in contrast to previous estimates from the whole-genome shotgun sequence assembly. However, the architecture of mouse and human genomes differs markedly: most mous...

journal_title：Nature genetics

authors： She X,Cheng Z,Zöllner S,Church DM,Eichler EE

更新日期：2008-07-01 00:00:00

abstract：:A candidate gene for Branchio-Oto-Renal (BOR) syndrome was identified at chromosome 8q13.3 by positional cloning and shown to underlie the disease. This gene is a human homologue of the Drosophila eyes absent gene (eya), and was therefore called EYA1. A highly conserved 271-amino acid C-terminal region was also found ...

journal_title：Nature genetics

authors： Abdelhak S,Kalatzis V,Heilig R,Compain S,Samson D,Vincent C,Weil D,Cruaud C,Sahly I,Leibovici M,Bitner-Glindzicz M,Francis M,Lacombe D,Vigneron J,Charachon R,Boven K,Bedbeder P,Van Regemorter N,Weissenbach J,Petit C

更新日期：1997-02-01 00:00:00

abstract：:There is increasing evidence that epigenetic information can be inherited across generations in mammals, despite extensive reprogramming both in the gametes and in the early developing embryo. One corollary to this is that disrupting the establishment of epigenetic state in the gametes of a parent, as a result of hete...

journal_title：Nature genetics

authors： Chong S,Vickaryous N,Ashe A,Zamudio N,Youngson N,Hemley S,Stopka T,Skoultchi A,Matthews J,Scott HS,de Kretser D,O'Bryan M,Blewitt M,Whitelaw E

更新日期：2007-05-01 00:00:00

abstract：:The 17q21.31 inversion polymorphism exists either as direct (H1) or inverted (H2) haplotypes with differential predispositions to disease and selection. We investigated its genetic diversity in 2,700 individuals, with an emphasis on African populations. We characterize eight structural haplotypes due to complex rearra...

journal_title：Nature genetics

authors： Steinberg KM,Antonacci F,Sudmant PH,Kidd JM,Campbell CD,Vives L,Malig M,Scheinfeldt L,Beggs W,Ibrahim M,Lema G,Nyambo TB,Omar SA,Bodo JM,Froment A,Donnelly MP,Kidd KK,Tishkoff SA,Eichler EE

更新日期：2012-07-01 00:00:00

abstract：:Follicular lymphoma (FL) and the GCB subtype of diffuse large B-cell lymphoma (DLBCL) derive from germinal center B cells. Targeted resequencing studies have revealed mutations in various genes encoding proteins in the NF-kappaB pathway that contribute to the activated B-cell (ABC) DLBCL subtype, but thus far few GCB-...

journal_title：Nature genetics

authors： Morin RD,Johnson NA,Severson TM,Mungall AJ,An J,Goya R,Paul JE,Boyle M,Woolcock BW,Kuchenbauer F,Yap D,Humphries RK,Griffith OL,Shah S,Zhu H,Kimbara M,Shashkin P,Charlot JF,Tcherpakov M,Corbett R,Tam A,Varhol R

更新日期：2010-02-01 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：:Spinocerebellar ataxia type I (SCAI) is an autosomal dominant neurodegenerative disease caused by the expansion of a CAG trinucleotide repeat on chromosome 6p. Normal alleles range from 19-36 repeats while SCA1 alleles contain 43-81 repeats. We now show that in 63% of paternal transmissions, an increase in repeat numb...

journal_title：Nature genetics

authors： Chung MY,Ranum LP,Duvick LA,Servadio A,Zoghbi HY,Orr HT

更新日期：1993-11-01 00:00:00

abstract：:Three hundred million individuals are at risk of infection by schistosomes and around 200,000 die each year of this disease. Severe clinical disease in schistosomiasis is often the consequence of heavy infection which, in several endemic areas, are determined largely by the susceptibility/resistance of individuals. Pr...

journal_title：Nature genetics

authors： Marquet S,Abel L,Hillaire D,Dessein H,Kalil J,Feingold J,Weissenbach J,Dessein AJ

更新日期：1996-10-01 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：: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：: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：: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：:The survival motor neuron gene is present in humans in a telomeric copy, SMN1, and several centromeric copies, SMN2. Homozygous mutation of SMN1 is associated with proximal spinal muscular atrophy (SMA), a severe motor neuron disease characterized by early childhood onset of progressive muscle weakness. To understand ...

journal_title：Nature genetics

authors： Hsieh-Li HM,Chang JG,Jong YJ,Wu MH,Wang NM,Tsai CH,Li H

更新日期：2000-01-01 00:00:00

abstract：:Genomic instability at simple repeated sequences (SRS) is a landmark for some sporadic and hereditary cancers of the colon. We have identified several human tumour cell lines with up to 1,000-fold increases in mutation rates for endogenous microsatellite sequences, relative to normal cells or tumour cells without the ...

journal_title：Nature genetics

authors： Shibata D,Peinado MA,Ionov Y,Malkhosyan S,Perucho M

更新日期：1994-03-01 00:00:00

abstract：:Opisthorchis viverrini-related cholangiocarcinoma (CCA), a fatal bile duct cancer, is a major public health concern in areas endemic for this parasite. We report here whole-exome sequencing of eight O. viverrini-related tumors and matched normal tissue. We identified and validated 206 somatic mutations in 187 genes us...

journal_title：Nature genetics

authors： Ong CK,Subimerb C,Pairojkul C,Wongkham S,Cutcutache I,Yu W,McPherson JR,Allen GE,Ng CC,Wong BH,Myint SS,Rajasegaran V,Heng HL,Gan A,Zang ZJ,Wu Y,Wu J,Lee MH,Huang D,Ong P,Chan-on W,Cao Y,Qian CN,Lim KH,Ooi

更新日期：2012-05-06 00:00:00

abstract：:During evolution different genes evolve at unequal rates, reflecting the varying functional constraints on phenotype. An important contributor to this variation is genetic buffering, which reduces the potential detrimental effects of mutations. We studied whether gene duplication and redundant metabolic networks affec...

journal_title：Nature genetics

authors： Kitami T,Nadeau JH

更新日期：2002-09-01 00:00:00

abstract：:Perturbations to mammalian SWI/SNF (mSWI/SNF or BAF) complexes contribute to more than 20% of human cancers, with driving roles first identified in malignant rhabdoid tumor, an aggressive pediatric cancer characterized by biallelic inactivation of the core BAF complex subunit SMARCB1 (BAF47). However, the mechanism by...

journal_title：Nature genetics

authors： Nakayama RT,Pulice JL,Valencia AM,McBride MJ,McKenzie ZM,Gillespie MA,Ku WL,Teng M,Cui K,Williams RT,Cassel SH,Qing H,Widmer CJ,Demetri GD,Irizarry RA,Zhao K,Ranish JA,Kadoch C

更新日期：2017-11-01 00:00:00

abstract：:The past decade has seen great advances in unraveling the biological basis of hereditary ataxias. Molecular studies of spinocerebellar ataxias (SCA) have extended our understanding of dominant ataxias. Causative genes have been identified for a few autosomal recessive ataxias: Friedreich's ataxia, ataxia with vitamin ...

journal_title：Nature genetics

authors： Gros-Louis F,Dupré N,Dion P,Fox MA,Laurent S,Verreault S,Sanes JR,Bouchard JP,Rouleau GA

更新日期：2007-01-01 00:00:00

abstract：:Restless legs syndrome (RLS) is a frequent neurological disorder characterized by an imperative urge to move the legs during night, unpleasant sensation in the lower limbs, disturbed sleep and increased cardiovascular morbidity. In a genome-wide association study we found highly significant associations between RLS an...

journal_title：Nature genetics

authors： Winkelmann J,Schormair B,Lichtner P,Ripke S,Xiong L,Jalilzadeh S,Fulda S,Pütz B,Eckstein G,Hauk S,Trenkwalder C,Zimprich A,Stiasny-Kolster K,Oertel W,Bachmann CG,Paulus W,Peglau I,Eisensehr I,Montplaisir J,Turecki G

更新日期：2007-08-01 00:00:00