Predicting the influence of common variants.

abstract：:The goal of the Complex Trait Consortium is to promote the development of resources that can be used to understand, treat and ultimately prevent pervasive human diseases. Existing and proposed mouse resources that are optimized to study the actions of isolated genetic loci on a fixed background are less effective for ...

journal_title：Nature genetics

authors： Churchill GA,Airey DC,Allayee H,Angel JM,Attie AD,Beatty J,Beavis WD,Belknap JK,Bennett B,Berrettini W,Bleich A,Bogue M,Broman KW,Buck KJ,Buckler E,Burmeister M,Chesler EJ,Cheverud JM,Clapcote S,Cook MN,Cox RD,C

更新日期：2004-11-01 00:00:00

abstract：:Congenic breeding strategies are becoming increasingly important as a greater number of complex trait linkages are identified. Traditionally, the development of a congenic strain has been a time-consuming endeavour, requiring ten generations of backcrosses. The recent advent of a dense molecular genetic map of the mou...

journal_title：Nature genetics

authors： Markel P,Shu P,Ebeling C,Carlson GA,Nagle DL,Smutko JS,Moore KJ

更新日期：1997-11-01 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：:Characterization of the polycystic kidney disease 1 (PKD1) gene has been complicated by genomic rearrangements on chromosome 16. We have used an exon linking strategy, taking RNA from a cell line containing PKD1 but not the duplicate loci, to clone a cDNA contig of the entire transcript. The transcript consists of 14,...

journal_title：Nature genetics

authors： Hughes J,Ward CJ,Peral B,Aspinwall R,Clark K,San Millán JL,Gamble V,Harris PC

更新日期：1995-06-01 00:00:00

abstract：:MASA syndrome is a recessive X-linked disorder characterized by mental retardation, adducted thumbs, shuffling gait, aphasia and, in some cases, hydrocephalus. Since it has been shown that X-linked hydrocephalus can be caused by mutations in L1CAM, a neuronal cell adhesion molecule, we performed an L1CAM mutation anal...

journal_title：Nature genetics

authors： Vits L,Van Camp G,Coucke P,Fransen E,De Boulle K,Reyniers E,Korn B,Poustka A,Wilson G,Schrander-Stumpel C

更新日期：1994-07-01 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：:Several attributes intuitively considered to be typical mammalian features, such as complex behavior, live birth and malignant disease such as cancer, also appeared several times independently in lower vertebrates. The genetic mechanisms underlying the evolution of these elaborate traits are poorly understood. The pla...

journal_title：Nature genetics

authors： Schartl M,Walter RB,Shen Y,Garcia T,Catchen J,Amores A,Braasch I,Chalopin D,Volff JN,Lesch KP,Bisazza A,Minx P,Hillier L,Wilson RK,Fuerstenberg S,Boore J,Searle S,Postlethwait JH,Warren WC

更新日期：2013-05-01 00:00:00

abstract：:Evolutionary theory predicts substantial interspecific and intraspecific differences in the proximal mechanisms of ageing. Our goal here is to seek evidence for common ('public') mechanisms among diverse organisms amenable to genetic analysis. Oxidative damage is a candidate for such a public mechanism of ageing. Long...

journal_title：Nature genetics

authors： Martin GM,Austad SN,Johnson TE

更新日期：1996-05-01 00:00:00

abstract：:Noncoding repeat expansions cause various neuromuscular diseases, including myotonic dystrophies, fragile X tremor/ataxia syndrome, some spinocerebellar ataxias, amyotrophic lateral sclerosis and benign adult familial myoclonic epilepsies. Inspired by the striking similarities in the clinical and neuroimaging findings...

journal_title：Nature genetics

authors： Ishiura H,Shibata S,Yoshimura J,Suzuki Y,Qu W,Doi K,Almansour MA,Kikuchi JK,Taira M,Mitsui J,Takahashi Y,Ichikawa Y,Mano T,Iwata A,Harigaya Y,Matsukawa MK,Matsukawa T,Tanaka M,Shirota Y,Ohtomo R,Kowa H,Date H,

更新日期：2019-08-01 00:00:00

abstract：:Recent research has uncovered an important role for de novo variation in neurodevelopmental disorders. Using aggregated data from 9,246 families with autism spectrum disorder, intellectual disability, or developmental delay, we found that ∼1/3 of de novo variants are independently present as standing variation in the ...

journal_title：Nature genetics

authors： Kosmicki JA,Samocha KE,Howrigan DP,Sanders SJ,Slowikowski K,Lek M,Karczewski KJ,Cutler DJ,Devlin B,Roeder K,Buxbaum JD,Neale BM,MacArthur DG,Wall DP,Robinson EB,Daly MJ

更新日期：2017-04-01 00:00:00

abstract：:We report that a single-nucleotide polymorphism (SNP) in the gene (PTPN22) encoding the lymphoid protein tyrosine phosphatase (LYP), a suppressor of T-cell activation, is associated with type 1 diabetes mellitus (T1D). The variants encoded by the two alleles, 1858C and 1858T, differ in a crucial amino acid residue inv...

journal_title：Nature genetics

authors： Bottini N,Musumeci L,Alonso A,Rahmouni S,Nika K,Rostamkhani M,MacMurray J,Meloni GF,Lucarelli P,Pellecchia M,Eisenbarth GS,Comings D,Mustelin T

更新日期：2004-04-01 00:00:00

abstract：:Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is the only described systemic autoimmune disease with established monogenic background, and the first autoimmune disorder localized outside the major histocompatibility complex (MHC) region. The primary biochemical defect in APECED is unknown. We...

journal_title：Nature genetics

authors： Finnish-German APECED Consortium.

更新日期：1997-12-01 00:00:00

abstract：:The cardiac homeobox protein Nkx2-5 is essential in cardiac development, and mutations in Csx (which encodes Nkx2-5) cause various congenital heart diseases. Using the yeast two-hybrid system with Nkx2-5 as the 'bait', we isolated the T-box-containing transcription factor Tbx5; mutations in TBX5 cause heart and limb m...

journal_title：Nature genetics

authors： Hiroi Y,Kudoh S,Monzen K,Ikeda Y,Yazaki Y,Nagai R,Komuro I

更新日期：2001-07-01 00:00:00

abstract：:Esophageal squamous cell carcinoma (ESCC) is prevalent worldwide and particularly common in certain regions of Asia. Here we report the whole-exome or targeted deep sequencing of 139 paired ESCC cases, and analysis of somatic copy number variations (SCNV) of over 180 ESCCs. We identified previously uncharacterized mut...

journal_title：Nature genetics

authors： Lin DC,Hao JJ,Nagata Y,Xu L,Shang L,Meng X,Sato Y,Okuno Y,Varela AM,Ding LW,Garg M,Liu LZ,Yang H,Yin D,Shi ZZ,Jiang YY,Gu WY,Gong T,Zhang Y,Xu X,Kalid O,Shacham S,Ogawa S,Wang MR,Koeffler HP

更新日期：2014-05-01 00:00:00

abstract：:Low-coverage whole-genome sequencing followed by imputation has been proposed as a cost-effective genotyping approach for disease and population genetics studies. However, its competitiveness against SNP arrays is undermined because current imputation methods are computationally expensive and unable to leverage large ...

journal_title：Nature genetics

authors： Rubinacci S,Ribeiro DM,Hofmeister RJ,Delaneau O

更新日期：2021-01-01 00:00:00

abstract：:Only a few mutations in regulatory elements that cause human disease have been identified thus far. A new report identifies cis-regulatory mutations that abolish the activity of a developmental enhancer, thereby causing pancreatic agenesis. ...

journal_title：Nature genetics

authors： Gordon CT,Lyonnet S

更新日期：2014-01-01 00:00:00

abstract：:The telomerase enzyme lengthens telomeres, an activity essential for chromosome stability in most eukaryotes. The enzyme is composed of a specialized reverse transcriptase and a template RNA. In Saccharomyces cerevisiae, overexpression of TLC1, the telomerase RNA gene, disrupts telomeric structure. The result is both ...

journal_title：Nature genetics

authors： Peterson SE,Stellwagen AE,Diede SJ,Singer MS,Haimberger ZW,Johnson CO,Tzoneva M,Gottschling DE

更新日期：2001-01-01 00:00:00

abstract：:Genome-wide association studies have previously identified variants in SLC30A8, encoding the zinc transporter ZnT8, associated with diabetes risk. A rare variant association study has now established the direction of effect, surprisingly showing that loss-of-function mutations in SLC30A8 are protective against diabete...

journal_title：Nature genetics

authors： Pearson E

更新日期：2014-04-01 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：:Uterine leiomyomata (fibroids) are common and clinically important tumors, but little is known about their etiology and pathogenesis. We previously mapped a gene that predisposes to multiple fibroids, cutaneous leiomyomata and renal cell carcinoma to chromosome 1q42.3-q43 (refs 4-6). Here we show, through a combinatio...

journal_title：Nature genetics

authors： Tomlinson IP,Alam NA,Rowan AJ,Barclay E,Jaeger EE,Kelsell D,Leigh I,Gorman P,Lamlum H,Rahman S,Roylance RR,Olpin S,Bevan S,Barker K,Hearle N,Houlston RS,Kiuru M,Lehtonen R,Karhu A,Vilkki S,Laiho P,Eklund C,Vie

更新日期：2002-04-01 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：:The DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a relatively common human disorder, usually associated with deletions of chromosome 22q11. The genetic basis for the wide range of developmental anomalies in the heart, glands and facial structures has been elusive. We have investigated the potential role of one can...

journal_title：Nature genetics

authors： Jerome LA,Papaioannou VE

更新日期：2001-03-01 00:00:00

abstract：:CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1 and regulates expression of genes involved in cortical development such as RELN. Here we describe a previously unreported X-linked brain malformation syndrome caused by mutations of CASK. All five affected individuals with CAS...

journal_title：Nature genetics

authors： Najm J,Horn D,Wimplinger I,Golden JA,Chizhikov VV,Sudi J,Christian SL,Ullmann R,Kuechler A,Haas CA,Flubacher A,Charnas LR,Uyanik G,Frank U,Klopocki E,Dobyns WB,Kutsche K

更新日期：2008-09-01 00:00:00

abstract：:During mammalian development, one of the two X chromosomes in female embryos is randomly inactivated in the somatic cell in order to achieve gene dosage compensation. But is X inactivation established simultaneously or is it accomplished over time in a lineage-dependent fashion? We have examined this question in mouse...

journal_title：Nature genetics

authors： Tan SS,Williams EA,Tam PP

更新日期：1993-02-01 00:00:00

abstract：:Antimalarial drugs impose strong selective pressure on Plasmodium falciparum parasites and leave signatures of selection in the parasite genome; screening for genes under selection may suggest potential drug or immune targets. Genome-wide association studies (GWAS) of parasite traits have been hampered by the lack of ...

journal_title：Nature genetics

authors： Mu J,Myers RA,Jiang H,Liu S,Ricklefs S,Waisberg M,Chotivanich K,Wilairatana P,Krudsood S,White NJ,Udomsangpetch R,Cui L,Ho M,Ou F,Li H,Song J,Li G,Wang X,Seila S,Sokunthea S,Socheat D,Sturdevant DE,Porcella SF

更新日期：2010-03-01 00:00:00

abstract：:Splice acceptors with the genomic NAGNAG motif may cause NAG insertion-deletions in transcripts, occur in 30% of human genes and are functional in at least 5% of human genes. We found five significant biases indicating that their distribution is nonrandom and that they are evolutionarily conserved and tissue-specific....

journal_title：Nature genetics

authors： Hiller M,Huse K,Szafranski K,Jahn N,Hampe J,Schreiber S,Backofen R,Platzer M

更新日期：2004-12-01 00:00:00

abstract：:The role of human chromosome 2 in type 1 diabetes was evaluated by analysing linkage and linkage disequilibrium at 21 microsatellite marker loci, using 348 affected sibpair families and 107 simplex families. The microsatellite D2S152 was linked to, and associated with, disease in families from three different populati...

journal_title：Nature genetics

authors： Copeman JB,Cucca F,Hearne CM,Cornall RJ,Reed PW,Rønningen KS,Undlien DE,Nisticò L,Buzzetti R,Tosi R

更新日期：1995-01-01 00:00:00

abstract：:Angle-closure glaucoma (ACG) is a subset of glaucoma affecting 16 million people. Although 4 million people are bilaterally blind from ACG, the causative molecular mechanisms of ACG remain to be defined. High intraocular pressure induces glaucoma in ACG. High intraocular pressure traditionally was suggested to result ...

journal_title：Nature genetics

authors： Nair KS,Hmani-Aifa M,Ali Z,Kearney AL,Ben Salem S,Macalinao DG,Cosma IM,Bouassida W,Hakim B,Benzina Z,Soto I,Söderkvist P,Howell GR,Smith RS,Ayadi H,John SW

更新日期：2011-06-01 00:00:00

abstract：:Integrins are heterodimeric transmembrane glycoproteins which are engaged in a variety of cellular functions, such as adhesion, migration and differentiation1. The integrin alpha 6 beta 4 is expressed on squamous epithelia, on subsets of endothelial cells, immature thymocytes and on Schwann cells and fibroblasts in th...

journal_title：Nature genetics

authors： van der Neut R,Krimpenfort P,Calafat J,Niessen CM,Sonnenberg A

更新日期：1996-07-01 00:00:00

abstract：:Bardet-Biedl syndrome (BBS, MIM 209900) is a heterogeneous autosomal recessive disorder characterized by obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation, and hypogenitalism. The disorder is also associated with diabetes mellitus, hypertension, and congenital heart disease. Six dis...

journal_title：Nature genetics

authors： Mykytyn K,Braun T,Carmi R,Haider NB,Searby CC,Shastri M,Beck G,Wright AF,Iannaccone A,Elbedour K,Riise R,Baldi A,Raas-Rothschild A,Gorman SW,Duhl DM,Jacobson SG,Casavant T,Stone EM,Sheffield VC

更新日期：2001-06-01 00:00:00