Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

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：:Pediatric midline high-grade astrocytomas (mHGAs) are incurable with few treatment targets identified. Most tumors harbor mutations encoding p.Lys27Met in histone H3 variants. In 40 treatment-naive mHGAs, 39 analyzed by whole-exome sequencing, we find additional somatic mutations specific to tumor location. Gain-of-fu...

journal_title：Nature genetics

authors： Fontebasso AM,Papillon-Cavanagh S,Schwartzentruber J,Nikbakht H,Gerges N,Fiset PO,Bechet D,Faury D,De Jay N,Ramkissoon LA,Corcoran A,Jones DT,Sturm D,Johann P,Tomita T,Goldman S,Nagib M,Bendel A,Goumnerova L,Bowers

更新日期：2014-05-01 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：: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：:We describe a highly engineered in vivo cloning method, mating-assisted genetically integrated cloning (MAGIC), that facilitates the rapid construction of recombinant DNA molecules. MAGIC uses bacterial mating, in vivo site-specific endonuclease cleavage and homologous recombination to catalyze the transfer of a DNA f...

journal_title：Nature genetics

authors： Li MZ,Elledge SJ

更新日期：2005-03-01 00:00:00

abstract：:Cell size is determined by the balance between protein synthesis and degradation. This equilibrium is affected by hormones, nutrients, energy levels, mechanical stress and cytokines. Mutations that inactivate myostatin lead to excessive muscle growth in animals and humans, but the signals and pathways responsible for ...

journal_title：Nature genetics

authors： Sartori R,Schirwis E,Blaauw B,Bortolanza S,Zhao J,Enzo E,Stantzou A,Mouisel E,Toniolo L,Ferry A,Stricker S,Goldberg AL,Dupont S,Piccolo S,Amthor H,Sandri M

更新日期：2013-11-01 00:00:00

abstract：:Atopic or immunoglobulin E (IgE)-mediated diseases include the common disorders of asthma, atopic dermatitis and allergic rhinitis. Chromosome 13q14 shows consistent linkage to atopy and the total serum IgE concentration. We previously identified association between total serum IgE levels and a novel 13q14 microsatell...

journal_title：Nature genetics

authors： Zhang Y,Leaves NI,Anderson GG,Ponting CP,Broxholme J,Holt R,Edser P,Bhattacharyya S,Dunham A,Adcock IM,Pulleyn L,Barnes PJ,Harper JI,Abecasis G,Cardon L,White M,Burton J,Matthews L,Mott R,Ross M,Cox R,Moffatt MF

更新日期：2003-06-01 00:00:00

abstract：:Studying consanguineous families with Ghosal hematodiaphyseal dysplasia syndrome (GHDD), a disorder of increased bone density, we identified mutations in TBXAS1, which encodes thromboxane synthase (TXAS). TXAS, an enzyme of the arachidonic acid cascade, produces thromboxane A(2) (TXA(2)). Platelets from subjects with ...

journal_title：Nature genetics

authors： Geneviève D,Proulle V,Isidor B,Bellais S,Serre V,Djouadi F,Picard C,Vignon-Savoye C,Bader-Meunier B,Blanche S,de Vernejoul MC,Legeai-Mallet L,Fischer AM,Le Merrer M,Dreyfus M,Gaussem P,Munnich A,Cormier-Daire V

更新日期：2008-03-01 00:00:00

abstract：:Gastric cancer is classified into intestinal and diffuse types, the latter including a highly malignant form, linitis plastica. A two-stage genome-wide association study (stage 1: 85,576 SNPs on 188 cases and 752 references; stage 2: 2,753 SNPs on 749 cases and 750 controls) in Japan identified a significant associati...

journal_title：Nature genetics

authors： Study Group of Millennium Genome Project for Cancer.,Sakamoto H,Yoshimura K,Saeki N,Katai H,Shimoda T,Matsuno Y,Saito D,Sugimura H,Tanioka F,Kato S,Matsukura N,Matsuda N,Nakamura T,Hyodo I,Nishina T,Yasui W,Hirose H,H

更新日期：2008-06-01 00:00:00

abstract：:The newly recognized ataxia-ocular apraxia 1 (AOA1; MIM 208920) is the most frequent cause of autosomal recessive ataxia in Japan and is second only to Friedreich ataxia in Portugal. It shares several neurological features with ataxia-telangiectasia, including early onset ataxia, oculomotor apraxia and cerebellar atro...

journal_title：Nature genetics

authors： Moreira MC,Barbot C,Tachi N,Kozuka N,Uchida E,Gibson T,Mendonça P,Costa M,Barros J,Yanagisawa T,Watanabe M,Ikeda Y,Aoki M,Nagata T,Coutinho P,Sequeiros J,Koenig M

更新日期：2001-10-01 00:00:00

abstract：:Familial hyperkalemic hypertension (FHHt) is a Mendelian form of arterial hypertension that is partially explained by mutations in WNK1 and WNK4 that lead to increased activity of the Na(+)-Cl(-) cotransporter (NCC) in the distal nephron. Using combined linkage analysis and whole-exome sequencing in two families, we i...

journal_title：Nature genetics

authors： Louis-Dit-Picard H,Barc J,Trujillano D,Miserey-Lenkei S,Bouatia-Naji N,Pylypenko O,Beaurain G,Bonnefond A,Sand O,Simian C,Vidal-Petiot E,Soukaseum C,Mandet C,Broux F,Chabre O,Delahousse M,Esnault V,Fiquet B,Houillier

更新日期：2012-03-11 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：:Using transgenic mice expressing human cystatin C (encoded by CST3), we show that cystatin C binds soluble amyloid-beta peptide and inhibits cerebral amyloid deposition in amyloid-beta precursor protein (APP) transgenic mice. Cystatin C expression twice that of the endogenous mouse cystatin C was sufficient to substan...

journal_title：Nature genetics

authors： Mi W,Pawlik M,Sastre M,Jung SS,Radvinsky DS,Klein AM,Sommer J,Schmidt SD,Nixon RA,Mathews PM,Levy E

更新日期：2007-12-01 00:00:00

abstract：:As genetic marker maps have improved, multipoint linkage analysis has become a crucial part of all disease mapping studies. Paradoxically, multipoint lod scores become increasingly difficult to compute, particularly as the numbers of markers, marker alleles and untyped people increase. We have solved this problem by u...

journal_title：Nature genetics

authors： O'Connell JR,Weeks DE

更新日期：1995-12-01 00:00:00

abstract：:The histone variant H3.3 is enriched at enhancers and active genes, as well as repeat regions such as telomeres and retroelements, in mouse embryonic stem cells (mESCs)1-3. Although recent studies demonstrate a role for H3.3 and its chaperones in establishing heterochromatin at repeat regions4-8, the function of H3.3 ...

journal_title：Nature genetics

authors： Martire S,Gogate AA,Whitmill A,Tafessu A,Nguyen J,Teng YC,Tastemel M,Banaszynski LA

更新日期：2019-06-01 00:00:00

abstract：:We identified association of restless legs syndrome (RLS) with PTPRD at 9p23-24 in 2,458 affected individuals and 4,749 controls from Germany, Austria, Czechia and Canada. Two independent SNPs in the 5' UTR of splice variants expressed predominantly in the central nervous system showed highly significant P values (rs4...

journal_title：Nature genetics

authors： Schormair B,Kemlink D,Roeske D,Eckstein G,Xiong L,Lichtner P,Ripke S,Trenkwalder C,Zimprich A,Stiasny-Kolster K,Oertel W,Bachmann CG,Paulus W,Högl B,Frauscher B,Gschliesser V,Poewe W,Peglau I,Vodicka P,Vávrová J,S

更新日期：2008-08-01 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：:A new study successfully applies complementary whole-genome sequencing and imputation approaches to establish robust disease associations in an isolated population. This strategy is poised to help elucidate the role of variants at the low end of the allele frequency spectrum in the genetic architecture of complex trai...

journal_title：Nature genetics

authors： Zeggini E

更新日期：2011-03-29 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

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：:To identify new genetic risk factors for cervical cancer, we conducted a genome-wide association study in the Han Chinese population. The initial discovery set included 1,364 individuals with cervical cancer (cases) and 3,028 female controls, and we selected a 'stringently matched samples' subset (829 cases and 990 co...

journal_title：Nature genetics

authors： Shi Y,Li L,Hu Z,Li S,Wang S,Liu J,Wu C,He L,Zhou J,Li Z,Hu T,Chen Y,Jia Y,Wang S,Wu L,Cheng X,Yang Z,Yang R,Li X,Huang K,Zhang Q,Zhou H,Tang F,Chen Z,Shen J,Jiang J,Ding H,Xing H,Zhang S,Qu P,S

更新日期：2013-08-01 00:00:00

abstract：:In the version of the article published, the author list is not accurate. Igor Cima and Min-Han Tan should have been authors, appearing after Mark Wong in the author list, while Paul Jongjoon Choi should not have been listed as an author. Igor Cima and Min-Han Tan both have the affiliation Institute of Bioengineering ...

journal_title：Nature genetics

authors： Li H,Courtois ET,Sengupta D,Tan Y,Chen KH,Goh JJL,Kong SL,Chua C,Hon LK,Tan WS,Wong M,Cima I,Tan MH,Wee LJK,Hillmer AM,Tan IB,Robson P,Prabhakar S

更新日期：2018-12-01 00:00:00

abstract：:Epilepsy affects at least 2% of the population at some time in their lives. The epilepsies are a heterogeneous group of disorders, many with an inherited component. Although specific genes have been identified in a few rare diseases causing seizures as part of a more diffuse brain disorder, the molecular pathology of ...

journal_title：Nature genetics

authors： Steinlein OK,Mulley JC,Propping P,Wallace RH,Phillips HA,Sutherland GR,Scheffer IE,Berkovic SF

更新日期：1995-10-01 00:00:00

abstract：:Here we report the discovery of oncogenic mutations in the Hedgehog and mitogen-activated protein kinase (MAPK) pathways in over 80% of ameloblastomas, locally destructive odontogenic tumors of the jaw, by genomic analysis of archival material. Mutations in SMO (encoding Smoothened, SMO) are common in ameloblastomas o...

journal_title：Nature genetics

authors： Sweeney RT,McClary AC,Myers BR,Biscocho J,Neahring L,Kwei KA,Qu K,Gong X,Ng T,Jones CD,Varma S,Odegaard JI,Sugiyama T,Koyota S,Rubin BP,Troxell ML,Pelham RJ,Zehnder JL,Beachy PA,Pollack JR,West RB

更新日期：2014-07-01 00:00:00

abstract：:Genome-wide association scans of complex multipartite traits like the human face typically use preselected phenotypic measures. Here we report a data-driven approach to phenotyping facial shape at multiple levels of organization, allowing for an open-ended description of facial variation while preserving statistical p...

journal_title：Nature genetics

authors： Claes P,Roosenboom J,White JD,Swigut T,Sero D,Li J,Lee MK,Zaidi A,Mattern BC,Liebowitz C,Pearson L,González T,Leslie EJ,Carlson JC,Orlova E,Suetens P,Vandermeulen D,Feingold E,Marazita ML,Shaffer JR,Wysocka J,Sh

更新日期：2018-03-01 00:00:00

abstract：:Recent agreement on stable reference sequences for reporting human genetic variants now allows us to mandate the use of the allele naming conventions developed by the Human Genome Variation Society. ...

journal_title：Nature genetics

authors：

更新日期：2010-05-01 00:00:00

abstract：:c-Jun is a major component of the heterodimeric transcription factor AP-1 and is essential for embryonic development, as fetuses lacking Jun die at mid-gestation with impaired hepatogenesis and primary Jun-/- fibroblasts have a severe proliferation defect and undergo premature senescence in vitro. c-Jun and AP-1 activ...

journal_title：Nature genetics

authors： Behrens A,Sibilia M,Wagner EF

更新日期：1999-03-01 00:00:00

abstract：:Myotonic dystrophy (DM) results from the amplification of an unstable CTG repeat in the 3' untranslated region of a transcript encoding a putative serine/threonine kinase. We have analysed the amplification of the repeat and the steady state levels of the DM kinase (DMK) mRNA in tissues and cell lines from normal and ...

journal_title：Nature genetics

authors： Sabouri LA,Mahadevan MS,Narang M,Lee DS,Surh LC,Korneluk RG

更新日期：1993-07-01 00:00:00

abstract：:Despite advances in sequencing, the goal of obtaining a comprehensive view of genetic variation in populations is still far from reached. We sequenced 180 lines of A. thaliana from Sweden to obtain as complete a picture as possible of variation in a single region. Whereas simple polymorphisms in the unique portion of ...

journal_title：Nature genetics

authors： Long Q,Rabanal FA,Meng D,Huber CD,Farlow A,Platzer A,Zhang Q,Vilhjálmsson BJ,Korte A,Nizhynska V,Voronin V,Korte P,Sedman L,Mandáková T,Lysak MA,Seren Ü,Hellmann I,Nordborg M

更新日期：2013-08-01 00:00:00

abstract：:Hundreds of genes reside in structurally complex, poorly understood regions of the human genome. One such region contains the three amylase genes (AMY2B, AMY2A and AMY1) responsible for digesting starch into sugar. Copy number of AMY1 is reported to be the largest genomic influence on obesity, although genome-wide ass...

journal_title：Nature genetics

authors： Usher CL,Handsaker RE,Esko T,Tuke MA,Weedon MN,Hastie AR,Cao H,Moon JE,Kashin S,Fuchsberger C,Metspalu A,Pato CN,Pato MT,McCarthy MI,Boehnke M,Altshuler DM,Frayling TM,Hirschhorn JN,McCarroll SA

更新日期：2015-08-01 00:00:00