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排序方式: 共有972条查询结果,搜索用时 140 毫秒
41.
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm 总被引:2,自引:0,他引:2
ME Lindsay D Schepers NA Bolar JJ Doyle E Gallo J Fert-Bober MJ Kempers EK Fishman Y Chen L Myers D Bjeda G Oswald AF Elias HP Levy BM Anderlid MH Yang EM Bongers J Timmermans AC Braverman N Canham GR Mortier HG Brunner PH Byers J Van Eyk L Van Laer HC Dietz BL Loeys 《Nature genetics》2012,44(8):922-927
Loeys-Dietz syndrome (LDS) associates with a tissue signature for high transforming growth factor (TGF)-β signaling but is often caused by heterozygous mutations in genes encoding positive effectors of TGF-β signaling, including either subunit of the TGF-β receptor or SMAD3, thereby engendering controversy regarding the mechanism of disease. Here, we report heterozygous mutations or deletions in the gene encoding the TGF-β2 ligand for a phenotype within the LDS spectrum and show upregulation of TGF-β signaling in aortic tissue from affected individuals. Furthermore, haploinsufficient Tgfb2(+/-) mice have aortic root aneurysm and biochemical evidence of increased canonical and noncanonical TGF-β signaling. Mice that harbor both a mutant Marfan syndrome (MFS) allele (Fbn1(C1039G/+)) and Tgfb2 haploinsufficiency show increased TGF-β signaling and phenotypic worsening in association with normalization of TGF-β2 expression and high expression of TGF-β1. Taken together, these data support the hypothesis that compensatory autocrine and/or paracrine events contribute to the pathogenesis of TGF-β-mediated vasculopathies. 相似文献
42.
S Peña-Llopis S Vega-Rubín-de-Celis A Liao N Leng A Pavía-Jiménez S Wang T Yamasaki L Zhrebker S Sivanand P Spence L Kinch T Hambuch S Jain Y Lotan V Margulis AI Sagalowsky PB Summerour W Kabbani SW Wong N Grishin M Laurent XJ Xie CD Haudenschild MT Ross DR Bentley P Kapur J Brugarolas 《Nature genetics》2012,44(9):1072
43.
Lifestyle transitions in plant pathogenic Colletotrichum fungi deciphered by genome and transcriptome analyses 总被引:8,自引:0,他引:8
RJ O'Connell MR Thon S Hacquard SG Amyotte J Kleemann MF Torres U Damm EA Buiate L Epstein N Alkan J Altmüller L Alvarado-Balderrama CA Bauser C Becker BW Birren Z Chen J Choi JA Crouch JP Duvick MA Farman P Gan D Heiman B Henrissat RJ Howard M Kabbage C Koch B Kracher Y Kubo AD Law MH Lebrun YH Lee I Miyara N Moore U Neumann K Nordström DG Panaccione R Panstruga M Place RH Proctor D Prusky G Rech R Reinhardt JA Rollins S Rounsley CL Schardl DC Schwartz N Shenoy K Shirasu UR Sikhakolli K Stüber 《Nature genetics》2012,44(9):1060-1065
44.
Khan ZU Martín-Montañez E Baxter MG 《Cellular and molecular life sciences : CMLS》2011,68(10):1737-1754
Visual perception and memory are the most important components of vision processing in the brain. It was thought that the
perceptual aspect of a visual stimulus occurs in visual cortical areas and that this serves as the substrate for the formation
of visual memory in a distinct part of the brain called the medial temporal lobe. However, current evidence indicates that
there is no functional separation of areas. Entire visual cortical pathways and connecting medial temporal lobe are important
for both perception and visual memory. Though some aspects of this view are debated, evidence from both sides will be explored
here. In this review, we will discuss the anatomical and functional architecture of the entire system and the implications
of these structures in visual perception and memory. 相似文献
45.
Mark A. Ports 《西北部美国博物学家》2011,64(2)
Described here are 4 species of mountain snails, Oreohelix , isolated on mountains in the central Great Basin of Nevada and Utah since the end of the Pleistocene. Forty-three mountains were searched during an 18-year period, resulting in 24 mountains found with no oreohelicids present. One population, Oreohelix loisae (19 mm to 23 mm in shell diameter), is described here as a new species related to, but geographically isolated from, the species Oreohelix nevadensis (17 mm to 22 mm diameter). Oreohelix loisae is present only in the Goshute Mountains while O. nevadensis is represented in 3 geographically adjacent ranges in the central Great Basin. These 2 species are possibly related to the Oreohelix haydeni group from the northern Wasatch Range. The subspecies Oreohelix strigosa depressa (15 mm to 21 mm diameter) is present on 11 ranges from western Utah west to east central Nevada. This subspecies is closely related to populations found today in the northern Wasatch Mountains of Utah. The smallest species in diameter (8 mm to 14 mm), Oreohelix hemphilli , is centered in the central Great Basin and found on 16 ranges often in sympatry with 1 or 2 of the larger conspecifics. Both qualitative and quantitative information on shell characters and soft anatomy is provided here for these 4 species. Shell characters, soft anatomy, geographical isolation, and statistical analysis suggest that 4 distinct species inhabit the central Great Basin today. Xeric and calciphilic species include O. hemphilli and O. loisae , while O. strigosa and O. nevadensis typically are associated with permanent water and both metamorphic and limestone mountains. 相似文献
46.
Purdue MP Johansson M Zelenika D Toro JR Scelo G Moore LE Prokhortchouk E Wu X Kiemeney LA Gaborieau V Jacobs KB Chow WH Zaridze D Matveev V Lubinski J Trubicka J Szeszenia-Dabrowska N Lissowska J Rudnai P Fabianova E Bucur A Bencko V Foretova L Janout V Boffetta P Colt JS Davis FG Schwartz KL Banks RE Selby PJ Harnden P Berg CD Hsing AW Grubb RL Boeing H Vineis P Clavel-Chapelon F Palli D Tumino R Krogh V Panico S Duell EJ Quirós JR Sanchez MJ Navarro C Ardanaz E Dorronsoro M Khaw KT Allen NE 《Nature genetics》2011,43(1):60-65
47.
Macgregor S Montgomery GW Liu JZ Zhao ZZ Henders AK Stark M Schmid H Holland EA Duffy DL Zhang M Painter JN Nyholt DR Maskiell JA Jetann J Ferguson M Cust AE Jenkins MA Whiteman DC Olsson H Puig S Bianchi-Scarrà G Hansson J Demenais F Landi MT Dębniak T Mackie R Azizi E Bressac-de Paillerets B Goldstein AM Kanetsky PA Gruis NA Elder DE Newton-Bishop JA Bishop DT Iles MM Helsing P Amos CI Wei Q Wang LE Lee JE Qureshi AA Kefford RF Giles GG Armstrong BK Aitken JF Han J Hopper JL Trent JM Brown KM 《Nature genetics》2011,43(11):1114-1118
We performed a genome-wide association study of melanoma in a discovery cohort of 2,168 Australian individuals with melanoma and 4,387 control individuals. In this discovery phase, we confirm several previously characterized melanoma-associated loci at MC1R, ASIP and MTAP-CDKN2A. We selected variants at nine loci for replication in three independent case-control studies (Europe: 2,804 subjects with melanoma, 7,618 control subjects; United States 1: 1,804 subjects with melanoma, 1,026 control subjects; United States 2: 585 subjects with melanoma, 6,500 control subjects). The combined meta-analysis of all case-control studies identified a new susceptibility locus at 1q21.3 (rs7412746, P = 9.0 × 10(-11), OR in combined replication cohorts of 0.89 (95% CI 0.85-0.95)). We also show evidence suggesting that melanoma associates with 1q42.12 (rs3219090, P = 9.3 × 10(-8)). The associated variants at the 1q21.3 locus span a region with ten genes, and plausible candidate genes for melanoma susceptibility include ARNT and SETDB1. Variants at the 1q21.3 locus do not seem to be associated with human pigmentation or measures of nevus density. 相似文献
48.
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration 总被引:1,自引:0,他引:1
49.
Crossan GP van der Weyden L Rosado IV Langevin F Gaillard PH McIntyre RE;Sanger Mouse Genetics Project Gallagher F Kettunen MI Lewis DY Brindle K Arends MJ Adams DJ Patel KJ 《Nature genetics》2011,43(2):147-152
The evolutionarily conserved SLX4 protein, a key regulator of nucleases, is critical for DNA damage response. SLX4 nuclease complexes mediate repair during replication and can also resolve Holliday junctions formed during homologous recombination. Here we describe the phenotype of the Btbd12 knockout mouse, the mouse ortholog of SLX4, which recapitulates many key features of the human genetic illness Fanconi anemia. Btbd12-deficient animals are born at sub-Mendelian ratios, have greatly reduced fertility, are developmentally compromised and are prone to blood cytopenias. Btbd12(-/-) cells prematurely senesce, spontaneously accumulate damaged chromosomes and are particularly sensitive to DNA crosslinking agents. Genetic complementation reveals a crucial requirement for Btbd12 (also known as Slx4) to interact with the structure-specific endonuclease Xpf-Ercc1 to promote crosslink repair. The Btbd12 knockout mouse therefore establishes a disease model for Fanconi anemia and genetically links a regulator of nuclease incision complexes to the Fanconi anemia DNA crosslink repair pathway. 相似文献
50.
In this paper, we first extract factors from a monthly dataset of 130 macroeconomic and financial variables. These extracted factors are then used to construct a factor‐augmented qualitative vector autoregressive (FA‐Qual VAR) model to forecast industrial production growth, inflation, the Federal funds rate, and the term spread based on a pseudo out‐of‐sample recursive forecasting exercise over an out‐of‐sample period of 1980:1 to 2014:12, using an in‐sample period of 1960:1 to 1979:12. Short‐, medium‐, and long‐run horizons of 1, 6, 12, and 24 months ahead are considered. The forecast from the FA‐Qual VAR is compared with that of a standard VAR model, a Qual VAR model, and a factor‐augmented VAR (FAVAR). In general, we observe that the FA‐Qual VAR tends to perform significantly better than the VAR, Qual VAR and FAVAR (barring some exceptions relative to the latter). In addition, we find that the Qual VARs are also well equipped in forecasting probability of recessions when compared to probit models. 相似文献