New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

abstract：:The central goal of human genetics is to understand the inherited basis of human variation in phenotypes, elucidating human physiology, evolution and disease. Rare mutations have been found underlying two thousand mendelian diseases; more recently, it has become possible to assess systematically the contribution of co...

journal_title：Nature genetics

authors： McCarroll SA,Altshuler DM

更新日期：2007-07-01 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：:The degree to which genetic factors influence human intelligence remains a matter of some controversy. However, there is little doubt that single gene mutations can significantly alter brain development and function. For example, mutations affecting the FMR1 gene cause the fragile X syndrome, the most prevalent known ...

journal_title：Nature genetics

authors： Reiss AL,Freund LS,Baumgardner TL,Abrams MT,Denckla MB

更新日期：1995-11-01 00:00:00

abstract：:Antibiotic resistance is an increasingly serious public health threat. Understanding pathways allowing bacteria to survive antibiotic stress may unveil new therapeutic targets. We explore the role of the bacterial epigenome in antibiotic stress survival using classical genetic tools and single-molecule real-time seque...

journal_title：Nature genetics

authors： Cohen NR,Ross CA,Jain S,Shapiro RS,Gutierrez A,Belenky P,Li H,Collins JJ

更新日期：2016-05-01 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：:Intestinal microbiota is known to be important in health and disease. Its composition is influenced by both environmental and host factors. Few large-scale studies have evaluated the association between host genetic variation and the composition of microbiota. We recruited a cohort of 1,561 healthy individuals, of who...

journal_title：Nature genetics

authors： Turpin W,Espin-Garcia O,Xu W,Silverberg MS,Kevans D,Smith MI,Guttman DS,Griffiths A,Panaccione R,Otley A,Xu L,Shestopaloff K,Moreno-Hagelsieb G,GEM Project Research Consortium.,Paterson AD,Croitoru K

更新日期：2016-11-01 00:00:00

abstract：:We have developed a human artificial episomal chromosome (HAEC) system, based on the latent replication origin of the large herpes Epstein-Barr virus, for the propagation and stable maintenance of DNA as circular minichromosomes in human cells. Individual HAECs carried human genomic inserts ranging from 60-330 kb and ...

journal_title：Nature genetics

authors： Sun TQ,Fenstermacher DA,Vos JM

更新日期：1994-09-01 00:00:00

abstract：:The shift from outcrossing to selfing is common in flowering plants, but the genomic consequences and the speed at which they emerge remain poorly understood. An excellent model for understanding the evolution of self fertilization is provided by Capsella rubella, which became self compatible <200,000 years ago. We re...

journal_title：Nature genetics

authors： Slotte T,Hazzouri KM,Ågren JA,Koenig D,Maumus F,Guo YL,Steige K,Platts AE,Escobar JS,Newman LK,Wang W,Mandáková T,Vello E,Smith LM,Henz SR,Steffen J,Takuno S,Brandvain Y,Coop G,Andolfatto P,Hu TT,Blanchette M,

更新日期：2013-07-01 00:00:00

abstract：:Plasma iron circulates bound to transferrin (Trf), which solubilizes the ferric ion and attenuates its reactivity. Diferric Trf interacts with cell-surface Trf receptor (Trfr) to undergo receptor-mediated endocytosis into specialized endosomes. Endosomal acidification leads to iron release, and iron is transported out...

journal_title：Nature genetics

authors： Levy JE,Jin O,Fujiwara Y,Kuo F,Andrews NC

更新日期：1999-04-01 00:00:00

abstract：:Genome-wide association studies (GWAS) have identified four susceptibility loci for epithelial ovarian cancer (EOC), with another two suggestive loci reaching near genome-wide significance. We pooled data from a GWAS conducted in North America with another GWAS from the UK. We selected the top 24,551 SNPs for inclusio...

journal_title：Nature genetics

authors： Pharoah PD,Tsai YY,Ramus SJ,Phelan CM,Goode EL,Lawrenson K,Buckley M,Fridley BL,Tyrer JP,Shen H,Weber R,Karevan R,Larson MC,Song H,Tessier DC,Bacot F,Vincent D,Cunningham JM,Dennis J,Dicks E,Australian Cancer Stud

更新日期：2013-04-01 00:00:00

abstract：:Gene-environment associations are important in rheumatoid arthritis (RA) susceptibility, with an association existing between smoking, HLA- DRB1 'shared epitope' alleles, PTPN22 and antibodies to cyclic citrullinated peptides (CCP). Here, we test the hypothesis that a subset of the anti-CCP response, with specific aut...

journal_title：Nature genetics

authors： Mahdi H,Fisher BA,Källberg H,Plant D,Malmström V,Rönnelid J,Charles P,Ding B,Alfredsson L,Padyukov L,Symmons DP,Venables PJ,Klareskog L,Lundberg K

更新日期：2009-12-01 00:00:00

abstract：:Consistent but indirect evidence has implicated genetic factors in smoking behavior. We report meta-analyses of several smoking phenotypes within cohorts of the Tobacco and Genetics Consortium (n = 74,053). We also partnered with the European Network of Genetic and Genomic Epidemiology (ENGAGE) and Oxford-GlaxoSmithKl...

journal_title：Nature genetics

authors： Tobacco and Genetics Consortium.

更新日期：2010-05-01 00:00:00

abstract：:Mitochondrial DNA (mtDNA)-depletion syndromes (MDS; OMIM 251880) are phenotypically heterogeneous, autosomal-recessive disorders characterized by tissue-specific reduction in mtDNA copy number. Affected individuals with the hepatocerebral form of MDS have early progressive liver failure and neurological abnormalities,...

journal_title：Nature genetics

authors： Mandel H,Szargel R,Labay V,Elpeleg O,Saada A,Shalata A,Anbinder Y,Berkowitz D,Hartman C,Barak M,Eriksson S,Cohen N

更新日期：2001-11-01 00:00:00

abstract：:Autosomal dominant optic atrophy (ADOA) is the most prevalent hereditary optic neuropathy resulting in progressive loss of visual acuity, centrocoecal scotoma and bilateral temporal atrophy of the optic nerve with an onset within the first two decades of life. The predominant locus for this disorder (OPA1; MIM 165500)...

journal_title：Nature genetics

authors： Alexander C,Votruba M,Pesch UE,Thiselton DL,Mayer S,Moore A,Rodriguez M,Kellner U,Leo-Kottler B,Auburger G,Bhattacharya SS,Wissinger B

更新日期：2000-10-01 00:00:00

abstract：:Acute promyelocytic leukaemia (APL), associated with chromosomal translocations involving the retinoic acid receptor alpha gene (RARA) and the PML gene, is sensitive to retinoic acid (RA) treatment, while APL patients harbouring translocations between RARA and the PLZF gene do not respond to RA. We have generated PML-...

journal_title：Nature genetics

authors： He LZ,Guidez F,Tribioli C,Peruzzi D,Ruthardt M,Zelent A,Pandolfi PP

更新日期：1998-02-01 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 global health impact of malaria is enormous, with an estimated 300-500 million clinical cases and 1 million annual deaths. In humans, initial susceptibility to infection with Plasmodium species, disease severity and ultimate outcome of malaria (self-healing or lethal) are under complex genetic control. Alleles ass...

journal_title：Nature genetics

authors： Min-Oo G,Fortin A,Tam MF,Nantel A,Stevenson MM,Gros P

更新日期：2003-12-01 00:00:00

abstract：:Mutations in PRKCSH, encoding the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum (ER), cause autosomal dominant polycystic liver disease. We found that mutations in SEC63, encoding a component of the protein translocation machinery in the ER, also cause this disease. ...

journal_title：Nature genetics

authors： Davila S,Furu L,Gharavi AG,Tian X,Onoe T,Qian Q,Li A,Cai Y,Kamath PS,King BF,Azurmendi PJ,Tahvanainen P,Kääriäinen H,Höckerstedt K,Devuyst O,Pirson Y,Martin RS,Lifton RP,Tahvanainen E,Torres VE,Somlo S

更新日期：2004-06-01 00:00:00

abstract：:With access to whole genome sequences for various organisms and imminent completion of the Human Genome Project, the entire process of discovery in molecular and cellular biology is poised to change. Massively parallel measurement strategies promise to revolutionize how we study and ultimately understand the complex b...

journal_title：Nature genetics

authors： Burley SK,Almo SC,Bonanno JB,Capel M,Chance MR,Gaasterland T,Lin D,Sali A,Studier FW,Swaminathan S

更新日期：1999-10-01 00:00:00

abstract：:Age-related hearing loss (AHL) in common inbred mouse strains is a genetically complex quantitative trait. We found a synonymous single-nucleotide polymorphism in exon 7 of Cdh23 that shows significant association with AHL and the deafness modifier mdfw (modifer of deafwaddler). The hypomorphic Cdh23(753A) allele caus...

journal_title：Nature genetics

authors： Noben-Trauth K,Zheng QY,Johnson KR

更新日期：2003-09-01 00:00:00

abstract：:An exceptional muscle development commonly referred to as 'double-muscled' (Fig. 1) has been seen in several cattle breeds and has attracted considerable attention from beef producers. Double-muscled animals are characterized by an increase in muscle mass of about 20%, due to general skeletal-muscle hyperplasia-that i...

journal_title：Nature genetics

authors： Grobet L,Martin LJ,Poncelet D,Pirottin D,Brouwers B,Riquet J,Schoeberlein A,Dunner S,Ménissier F,Massabanda J,Fries R,Hanset R,Georges M

更新日期：1997-09-01 00:00:00

abstract：:Incorporation of selenocysteine (Sec), through recoding of the UGA stop codon, creates a unique class of proteins. Mice lacking tRNA(Sec) die in utero, but the in vivo role of other components involved in selenoprotein synthesis is unknown, and Sec incorporation defects have not been described in humans. Deiodinases (...

journal_title：Nature genetics

authors： Dumitrescu AM,Liao XH,Abdullah MS,Lado-Abeal J,Majed FA,Moeller LC,Boran G,Schomburg L,Weiss RE,Refetoff S

更新日期：2005-11-01 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：:R-spondins are a recently characterized small family of growth factors. Here we show that human R-spondin1 (RSPO1) is the gene disrupted in a recessive syndrome characterized by XX sex reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin. Our data show, for the first time, th...

journal_title：Nature genetics

authors： Parma P,Radi O,Vidal V,Chaboissier MC,Dellambra E,Valentini S,Guerra L,Schedl A,Camerino G

更新日期：2006-11-01 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：:To identify genetic markers for laryngeal squamous cell carcinoma (LSCC), we conducted a genome-wide association study (GWAS) on 993 individuals with LSCC (cases) and 1,995 cancer-free controls from Chinese populations. The most promising variants (association P < 1 × 10(-5)) were then replicated in 3 independent sets...

journal_title：Nature genetics

authors： Wei Q,Yu D,Liu M,Wang M,Zhao M,Liu M,Jia W,Ma H,Fang J,Xu W,Chen K,Xu Z,Wang J,Tian L,Yuan H,Chang J,Hu Z,Wei L,Huang Y,Han Y,Liu J,Han D,Shen H,Yang S,Zheng H,Ji Q,Li D,Tan W,Wu C,Lin D

更新日期：2014-10-01 00:00:00

abstract：:Congenital myoclonus is a widespread neurologic disorder characterized by hyperexcitability, muscular spasticity and myoclonus associated with marked reduction in neural glycine binding sites. The recessive mouse mutation spastic (spa) is a prototype of inherited myoclonus. Here we show that defects in the gene encodi...

journal_title：Nature genetics

authors： Kingsmore SF,Giros B,Suh D,Bieniarz M,Caron MG,Seldin MF

更新日期：1994-06-01 00:00:00

abstract：:Although Burkitt lymphomas and follicular lymphomas both have features of germinal center B cells, they are biologically and clinically quite distinct. Here we performed whole-genome bisulfite, genome and transcriptome sequencing in 13 IG-MYC translocation-positive Burkitt lymphoma, nine BCL2 translocation-positive fo...

journal_title：Nature genetics

authors： Kretzmer H,Bernhart SH,Wang W,Haake A,Weniger MA,Bergmann AK,Betts MJ,Carrillo-de-Santa-Pau E,Doose G,Gutwein J,Richter J,Hovestadt V,Huang B,Rico D,Jühling F,Kolarova J,Lu Q,Otto C,Wagener R,Arnolds J,Burkhardt B

更新日期：2015-11-01 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：: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： Malik R,Chauhan G,Traylor M,Sargurupremraj M,Okada Y,Mishra A,Rutten-Jacobs L,Giese AK,van der Laan SW,Gretarsdottir S,Anderson CD,Chong M,Adams HHH,Ago T,Almgren P,Amouyel P,Ay H,Bartz TM,Benavente OR,Bevan S,Bon

更新日期：2019-07-01 00:00:00