Iron on the brain.

abstract：:Co-evolution between host and pathogen is, in principle, a powerful determinant of the biology and genetics of infection and disease. Yet co-evolution has proven difficult to demonstrate rigorously in practice, and co-evolutionary thinking is only just beginning to inform medical or veterinary research in any meaningf...

journal_title：Nature genetics

authors： Woolhouse ME,Webster JP,Domingo E,Charlesworth B,Levin BR

更新日期：2002-12-01 00:00:00

abstract：:Cystic echinococcosis (hydatid disease), caused by the tapeworm E. granulosus, is responsible for considerable human morbidity and mortality. This cosmopolitan disease is difficult to diagnose, treat and control. We present a draft genomic sequence for the worm comprising 151.6 Mb encoding 11,325 genes. Comparisons wi...

journal_title：Nature genetics

authors： Zheng H,Zhang W,Zhang L,Zhang Z,Li J,Lu G,Zhu Y,Wang Y,Huang Y,Liu J,Kang H,Chen J,Wang L,Chen A,Yu S,Gao Z,Jin L,Gu W,Wang Z,Zhao L,Shi B,Wen H,Lin R,Jones MK,Brejova B,Vinar T,Zhao G,McManus DP,C

更新日期：2013-10-01 00:00:00

abstract：:Structural rearrangements have long been recognized as an important source of genetic variation, with implications in phenotypic diversity and disease, yet their detailed evolutionary dynamics remain elusive. Here we use long-read sequencing to generate end-to-end genome assemblies for 12 strains representing major su...

journal_title：Nature genetics

authors： Yue JX,Li J,Aigrain L,Hallin J,Persson K,Oliver K,Bergström A,Coupland P,Warringer J,Lagomarsino MC,Fischer G,Durbin R,Liti G

更新日期：2017-06-01 00:00:00

abstract：:Alström syndrome (OMIM 203800) is an autosomal recessive disease, characterized by cone-rod retinal dystrophy, cardiomyopathy and type 2 diabetes mellitus, that has been mapped to chromosome 2p13 (refs 1-5). We have studied an individual with Alström syndrome carrying a familial balanced reciprocal chromosome transloc...

journal_title：Nature genetics

authors： Hearn T,Renforth GL,Spalluto C,Hanley NA,Piper K,Brickwood S,White C,Connolly V,Taylor JF,Russell-Eggitt I,Bonneau D,Walker M,Wilson DI

更新日期：2002-05-01 00:00:00

abstract：:Distal enhancers play pivotal roles in development and disease yet remain one of the least understood regulatory elements. We used massively parallel reporter assays to perform functional comparisons of two leading enhancer models and find that gene-distal transcription start sites are robust predictors of active enha...

journal_title：Nature genetics

authors： Tippens ND,Liang J,Leung AK,Wierbowski SD,Ozer A,Booth JG,Lis JT,Yu H

更新日期：2020-10-01 00:00:00

abstract：:SNP genotyping has emerged as a technology to incorporate copy number variants (CNVs) into genetic analyses of human traits. However, the extent to which SNP platforms accurately capture CNVs remains unclear. Using independent, sequence-based CNV maps, we find that commonly used SNP platforms have limited or no probe ...

journal_title：Nature genetics

authors： Cooper GM,Zerr T,Kidd JM,Eichler EE,Nickerson DA

更新日期：2008-10-01 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：:An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...

journal_title：Nature genetics

authors： Chan-Seng-Yue M,Kim JC,Wilson GW,Ng K,Figueroa EF,O'Kane GM,Connor AA,Denroche RE,Grant RC,McLeod J,Wilson JM,Jang GH,Zhang A,Liang SB,Borgida A,Chadwick D,Kalimuthu S,Lungu I,Bartlett JMS,Krzyzanowski PM,Sandhu V

更新日期：2020-04-01 00:00:00

abstract：:Paired box (PAX) genes play a critical role in human development and disease. The PAX2 gene is expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system. We have conducted a mutational analysis of PAX2 in a family with optic nerve colobomas, renal hypoplasia, mild proteinuria and vesicour...

journal_title：Nature genetics

authors： Sanyanusin P,Schimmenti LA,McNoe LA,Ward TA,Pierpont ME,Sullivan MJ,Dobyns WB,Eccles MR

更新日期：1995-04-01 00:00:00

abstract：:Alcohol misuse is the leading cause of cirrhosis and the second most common indication for liver transplantation in the Western world. We performed a genome-wide association study for alcohol-related cirrhosis in individuals of European descent (712 cases and 1,426 controls) with subsequent validation in two independe...

journal_title：Nature genetics

authors： Buch S,Stickel F,Trépo E,Way M,Herrmann A,Nischalke HD,Brosch M,Rosendahl J,Berg T,Ridinger M,Rietschel M,McQuillin A,Frank J,Kiefer F,Schreiber S,Lieb W,Soyka M,Semmo N,Aigner E,Datz C,Schmelz R,Brückner S,Ze

更新日期：2015-12-01 00:00:00

abstract：:For more than 10,000 years, the selection of plant and animal traits that are better tailored for human use has shaped the development of civilizations. During this period, bread wheat (Triticum aestivum) emerged as one of the world's most important crops. We use exome sequencing of a worldwide panel of almost 500 gen...

journal_title：Nature genetics

authors： Pont C,Leroy T,Seidel M,Tondelli A,Duchemin W,Armisen D,Lang D,Bustos-Korts D,Goué N,Balfourier F,Molnár-Láng M,Lage J,Kilian B,Özkan H,Waite D,Dyer S,Letellier T,Alaux M,Wheat and Barley Legacy for Breeding Improveme

更新日期：2019-05-01 00:00:00

abstract：:The Notch-signalling pathway is important in establishing metameric pattern during somitogenesis. In mice, the lack of either of two molecules involved in the Notch-signalling pathway, Mesp2 or presenilin-1 (Ps1), results in contrasting phenotypes: caudalized versus rostralized vertebra. Here we adopt a genetic approa...

journal_title：Nature genetics

authors： Takahashi Y,Koizumi K,Takagi A,Kitajima S,Inoue T,Koseki H,Saga Y

更新日期：2000-08-01 00:00:00

abstract：:In mouse and man, deletions of specific regions of the Y chromosome have been linked to early failure of spermatogenesis and consequent sterility; the Y chromosomal gene(s) with this essential early role in spermatogenesis have not been identified. The partial deletion of the mouse Y short arm (the Sxrb deletion) that...

journal_title：Nature genetics

authors： Mazeyrat S,Saut N,Grigoriev V,Mahadevaiah SK,Ojarikre OA,Rattigan A,Bishop C,Eicher EM,Mitchell MJ,Burgoyne PS

更新日期：2001-09-01 00:00:00

abstract：:The organophosphate cholinesterase inhibitor paraoxon is hydrolysed by serum paraoxonase/arylesterase. A genetic polymorphism of paraoxonase (PON) activity which determines high versus low paraoxon hydrolysis in human populations, may determine sensitivity to parathion poisoning. We demonstrate that arginine at positi...

journal_title：Nature genetics

authors： Humbert R,Adler DA,Disteche CM,Hassett C,Omiecinski CJ,Furlong CE

更新日期：1993-01-01 00:00:00

abstract：:Binary polymorphisms associated with the non-recombining region of the human Y chromosome (NRY) preserve the paternal genetic legacy of our species that has persisted to the present, permitting inference of human evolution, population affinity and demographic history. We used denaturing high-performance liquid chromat...

journal_title：Nature genetics

authors： Underhill PA,Shen P,Lin AA,Jin L,Passarino G,Yang WH,Kauffman E,Bonné-Tamir B,Bertranpetit J,Francalacci P,Ibrahim M,Jenkins T,Kidd JR,Mehdi SQ,Seielstad MT,Wells RS,Piazza A,Davis RW,Feldman MW,Cavalli-Sforza LL,

更新日期：2000-11-01 00:00:00

abstract：:Junctional epidermolysis bullosa (JEB) is a heterogeneous autosomal recessively inherited blistering skin disorder associated with fragility at the dermal-epidermal junction. Characteristic ultrastructural findings in JEB are abnormalities in the hemidesmosome-anchoring filament complexes. These focal attachment struc...

journal_title：Nature genetics

authors： McGrath JA,Gatalica B,Christiano AM,Li K,Owaribe K,McMillan JR,Eady RA,Uitto J

更新日期：1995-09-01 00:00:00

abstract：:A genome-wide study of fasting insulin, HDL cholesterol and triglycerides, designed to depict insulin resistance, identified 53 independent loci associated with a limited capacity to store fat in a healthy way. The increased power of this multitrait approach provides insights into an otherwise difficult-to-grasp pheno...

journal_title：Nature genetics

authors： Heid IM,Winkler TW

更新日期：2016-12-28 00:00:00

abstract：:Urolithiasis is one of the most common urologic diseases in industrialized societies. Calcium oxalate is the predominant component in 70-80% of kidney stones, and small changes in urinary oxalate concentration affect the risk of stone formation. SLC26A6 is an anion exchanger expressed on the apical membrane in many ep...

journal_title：Nature genetics

authors： Jiang Z,Asplin JR,Evan AP,Rajendran VM,Velazquez H,Nottoli TP,Binder HJ,Aronson PS

更新日期：2006-04-01 00:00:00

abstract：:The capacity of microbial pathogens to alter their host tropism leading to epidemics in distinct host species populations is a global public and veterinary health concern. To investigate the molecular basis of a bacterial host-switching event in a tractable host species, we traced the evolutionary trajectory of the co...

journal_title：Nature genetics

authors： Viana D,Comos M,McAdam PR,Ward MJ,Selva L,Guinane CM,González-Muñoz BM,Tristan A,Foster SJ,Fitzgerald JR,Penadés JR

更新日期：2015-04-01 00:00:00

abstract：:X-linked congenital stationary night blindness (CSNB) is a recessive non-progressive retinal disorder characterized by night blindness, decreased visual acuity, myopia, nystagmus and strabismus. Two distinct clinical entities of X-linked CSNB have been proposed. Patients with complete CSNB show moderate to severe myop...

journal_title：Nature genetics

authors： Bech-Hansen NT,Naylor MJ,Maybaum TA,Pearce WG,Koop B,Fishman GA,Mets M,Musarella MA,Boycott KM

更新日期：1998-07-01 00:00:00

abstract：:Expansion of trinucleotide repeats can give rise to genetic disease. We have developed a technique, repeat expansion detection (RED), that can identify potentially pathological repeat expansion without prior knowledge of chromosomal location. Human genomic DNA is used as a template for a two-step cycling process that ...

journal_title：Nature genetics

authors： Schalling M,Hudson TJ,Buetow KH,Housman DE

更新日期：1993-06-01 00:00:00

abstract：:High hyperdiploid (51-67 chromosomes) acute lymphoblastic leukemia (ALL) is one of the most common childhood malignancies, comprising 30% of all pediatric B cell-precursor ALL. Its characteristic genetic feature is the nonrandom gain of chromosomes X, 4, 6, 10, 14, 17, 18 and 21, with individual trisomies or tetrasomi...

journal_title：Nature genetics

authors： Paulsson K,Lilljebjörn H,Biloglav A,Olsson L,Rissler M,Castor A,Barbany G,Fogelstrand L,Nordgren A,Sjögren H,Fioretos T,Johansson B

更新日期：2015-06-01 00:00:00

abstract：:Urocortin is a member of the corticotropin-releasing hormone peptide family and is found in many discrete brain regions. The distinct expression pattern of urocortin suggests that it influences such behaviors as feeding, anxiety and auditory processing. To better define the physiological roles of urocortin, we have ge...

journal_title：Nature genetics

authors： Vetter DE,Li C,Zhao L,Contarino A,Liberman MC,Smith GW,Marchuk Y,Koob GF,Heinemann SF,Vale W,Lee KF

更新日期：2002-08-01 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：:In the version of this article originally published, a box was misplaced in Fig. 1. The error has been corrected in the HTML and PDF versions of the article. ...

journal_title：Nature genetics

authors： Leitch HG,Hajkova P

更新日期：2018-08-01 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：:Recent studies have demonstrated that statistical methods can be used to detect the presence of a single individual within a study group based on summary data reported from genome-wide association studies (GWAS). We present an analytical and empirical study of the statistical power of such methods. We thereby aim to p...

journal_title：Nature genetics

authors： Sankararaman S,Obozinski G,Jordan MI,Halperin E

更新日期：2009-09-01 00:00:00

abstract：:DNA methylation loss occurs frequently in cancer genomes, primarily within lamina-associated, late-replicating regions termed partially methylated domains (PMDs). We profiled 39 diverse primary tumors and 8 matched adjacent tissues using whole-genome bisulfite sequencing (WGBS) and analyzed them alongside 343 addition...

journal_title：Nature genetics

authors： Zhou W,Dinh HQ,Ramjan Z,Weisenberger DJ,Nicolet CM,Shen H,Laird PW,Berman BP

更新日期：2018-04-01 00:00:00

abstract：:Joubert syndrome-related disorders (JSRD) are a group of syndromes sharing the neuroradiological features of cerebellar vermis hypoplasia and a peculiar brainstem malformation known as the 'molar tooth sign'. We identified mutations in the CEP290 gene in five families with variable neurological, retinal and renal mani...

journal_title：Nature genetics

authors： Valente EM,Silhavy JL,Brancati F,Barrano G,Krishnaswami SR,Castori M,Lancaster MA,Boltshauser E,Boccone L,Al-Gazali L,Fazzi E,Signorini S,Louie CM,Bellacchio E,International Joubert Syndrome Related Disorders Study Group.,B

更新日期：2006-06-01 00:00:00

abstract：:Measurements of erythrocytes within the blood are important clinical traits and can indicate various hematological disorders. We report here genome-wide association studies (GWAS) for six erythrocyte traits, including hemoglobin concentration (Hb), hematocrit (Hct), mean corpuscular volume (MCV), mean corpuscular hemo...

journal_title：Nature genetics

authors： Ganesh SK,Zakai NA,van Rooij FJ,Soranzo N,Smith AV,Nalls MA,Chen MH,Kottgen A,Glazer NL,Dehghan A,Kuhnel B,Aspelund T,Yang Q,Tanaka T,Jaffe A,Bis JC,Verwoert GC,Teumer A,Fox CS,Guralnik JM,Ehret GB,Rice K,Feli

更新日期：2009-11-01 00:00:00