排序方式: 共有37条查询结果,搜索用时 15 毫秒
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Janice L. Farlow Hai Lin Laura Sauerbeck Dongbing Lai Daniel L. Koller Elizabeth Pugh Kurt Hetrick Hua Ling Rachel Kleinloog Pieter van der Vlies Patrick Deelen Morris A. Swertz Bon H. Verweij Luca Regli Gabriel J. E. Rinkel Ynte M. Ruigrok Kimberly Doheny Yunlong Liu Joseph Broderick Tatiana Foroud FIA Study Investigators 《PloS one》2015,10(3)
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Julie Hoover-Fong Nara Sobreira Julie Jurgens Peggy Modaff Carrie Blout Ann Moser Ok-Hwa Kim Tae-Joon Cho Sung?Yoon Cho Sang?Jin Kim Dong-Kyu Jin Hiroshi Kitoh Woong-Yang Park Hua Ling Kurt?N. Hetrick Kimberly?F. Doheny David Valle Richard?M. Pauli 《American journal of human genetics》2014,94(1):105-112
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Jervis EJ Guarna MM Doheny JG Haynes CA Kilburn DG 《Biotechnology and bioengineering》2005,91(3):314-324
The extracellular matrix provides structural components that support the development of tissue morphology and the distribution of growth factors that modulate the overall cellular response to those growth factors. The ability to manipulate the presentation of factors in culture systems should provide an additional degree of control in regulating the stimulation of factor-dependent cells for tissue engineering applications. Cellulose binding domain (CBD) fusion protein technology facilitates the binding of bioactive cytokines to cellulose materials, and has permitted the analysis of several aspects of cell stimulation by surface-localized growth factors. We previously reported the synthesis and initial characterization of a fusion protein comprised of a CBD and murine stem cell factor (SCF) (Doheny et al. [1999] Biochem J 339:429-434). A significant advantage of the CBD fusion protein system is that it permits the stimulation of factor-dependent cells with localized growth factor, essentially free of nonfactor-derived interactions between the cell and matrix. In this work, the long-term stability and bioactivity of SCF-CBD fusions adsorbed to microcrystalline cellulose under cell culture conditions is demonstrated. Cellulose-bound SCF-CBD is shown to stimulate receptor polarization in the cell membrane and adherence to the cellulose matrix. In addition, cellulose-surface presentation of the SCF-CBD attenuates c-kit dephosphorylation kinetics, potentially modulating the overall response of the cell to the SCF signal. 相似文献
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Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1
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Abecasis GR Burt RA Hall D Bochum S Doheny KF Lundy SL Torrington M Roos JL Gogos JA Karayiorgou M 《American journal of human genetics》2004,74(3):403-417
We report on our initial genetic linkage studies of schizophrenia in the genetically isolated population of the Afrikaners from South Africa. A 10-cM genomewide scan was performed on 143 small families, 34 of which were informative for linkage. Using both nonparametric and parametric linkage analyses, we obtained evidence for a small number of disease loci on chromosomes 1, 9, and 13. These results suggest that few genes of substantial effect exist for schizophrenia in the Afrikaner population, consistent with our previous genealogical tracing studies. The locus on chromosome 1 reached genomewide significance levels (nonparametric LOD score of 3.30 at marker D1S1612, corresponding to an empirical P value of.012) and represents a novel susceptibility locus for schizophrenia. In addition to providing evidence for linkage for chromosome 1, we also identified a proband with a uniparental disomy (UPD) of the entire chromosome 1. This is the first time a UPD has been described in a patient with schizophrenia, lending further support to involvement of chromosome 1 in schizophrenia susceptibility in the Afrikaners. 相似文献
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Kenny EE Pe'er I Karban A Ozelius L Mitchell AA Ng SM Erazo M Ostrer H Abraham C Abreu MT Atzmon G Barzilai N Brant SR Bressman S Burns ER Chowers Y Clark LN Darvasi A Doheny D Duerr RH Eliakim R Giladi N Gregersen PK Hakonarson H Jones MR Marder K McGovern DP Mulle J Orr-Urtreger A Proctor DD Pulver A Rotter JI Silverberg MS Ullman T Warren ST Waterman M Zhang W Bergman A Mayer L Katz S Desnick RJ Cho JH Peter I 《PLoS genetics》2012,8(3):e1002559
Crohn''s disease (CD) is a complex disorder resulting from the interaction of intestinal microbiota with the host immune system in genetically susceptible individuals. The largest meta-analysis of genome-wide association to date identified 71 CD–susceptibility loci in individuals of European ancestry. An important epidemiological feature of CD is that it is 2–4 times more prevalent among individuals of Ashkenazi Jewish (AJ) descent compared to non-Jewish Europeans (NJ). To explore genetic variation associated with CD in AJs, we conducted a genome-wide association study (GWAS) by combining raw genotype data across 10 AJ cohorts consisting of 907 cases and 2,345 controls in the discovery stage, followed up by a replication study in 971 cases and 2,124 controls. We confirmed genome-wide significant associations of 9 known CD loci in AJs and replicated 3 additional loci with strong signal (p<5×10−6). Novel signals detected among AJs were mapped to chromosomes 5q21.1 (rs7705924, combined p = 2×10−8; combined odds ratio OR = 1.48), 2p15 (rs6545946, p = 7×10−9; OR = 1.16), 8q21.11 (rs12677663, p = 2×10−8; OR = 1.15), 10q26.3 (rs10734105, p = 3×10−8; OR = 1.27), and 11q12.1 (rs11229030, p = 8×10−9; OR = 1.15), implicating biologically plausible candidate genes, including RPL7, CPAMD8, PRG2, and PRG3. In all, the 16 replicated and newly discovered loci, in addition to the three coding NOD2 variants, accounted for 11.2% of the total genetic variance for CD risk in the AJ population. This study demonstrates the complementary value of genetic studies in the Ashkenazim. 相似文献
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Genomewide association study for susceptibility genes contributing to familial Parkinson disease 总被引:1,自引:0,他引:1
Pankratz N Wilk JB Latourelle JC DeStefano AL Halter C Pugh EW Doheny KF Gusella JF Nichols WC Foroud T Myers RH;PSG-PROGENI GenePD Investigators Coordinators Molecular Genetic Laboratories 《Human genetics》2009,124(6):593-605
Five genes have been identified that contribute to Mendelian forms of Parkinson disease (PD); however, mutations have been
found in fewer than 5% of patients, suggesting that additional genes contribute to disease risk. Unlike previous studies that
focused primarily on sporadic PD, we have performed the first genomewide association study (GWAS) in familial PD. Genotyping
was performed with the Illumina HumanCNV370Duo array in 857 familial PD cases and 867 controls. A logistic model was employed
to test for association under additive and recessive modes of inheritance after adjusting for gender and age. No result met
genomewide significance based on a conservative Bonferroni correction. The strongest association result was with SNPs in the
GAK/DGKQ region on chromosome 4 (additive model: p = 3.4 × 10−6; OR = 1.69). Consistent evidence of association was also observed to the chromosomal regions containing SNCA (additive model: p = 5.5 × 10−5; OR = 1.35) and MAPT (recessive model: p = 2.0 × 10−5; OR = 0.56). Both of these genes have been implicated previously in PD susceptibility; however, neither was identified in
previous GWAS studies of PD. Meta-analysis was performed using data from a previous case–control GWAS, and yielded improved
p values for several regions, including GAK/DGKQ (additive model: p = 2.5 × 10−7) and the MAPT region (recessive model: p = 9.8 × 10−6; additive model: p = 4.8 × 10−5). These data suggest the identification of new susceptibility alleles for PD in the GAK/DGKQ region, and also provide further support for the role of SNCA and MAPT in PD susceptibility.
Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users.
N. Pankratz and J. B. Wilk are joint first authors. 相似文献
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Maria Teresa Landi Nilanjan Chatterjee Lynn R. Goldin Melissa Rotunno Kevin Jacobs Meredith Yeager Qizhai Li Dario Consonni Sholom Wacholder Ryan Diver Jarmo Virtamo Zhaoming Wang Kimberly F. Doheny Cathy Laurie Rayjean Hung James D. McKay John McLaughlin Ming-Sound Tsao Yufei Wang Lars Vatten Egil Arnesen Christine Bouchard Tonu Vooder Kristian Välk Chu Chen Patrick Sulem Thorunn Rafnar Wiebke Sauter Heike Bickeböller Jenny Chang-Claude Kari Stefansson Christopher I. Amos Sharon A. Savage Margaret A. Tucker Neil E. Caporaso 《American journal of human genetics》2009,85(5):679-74
Three genetic loci for lung cancer risk have been identified by genome-wide association studies (GWAS), but inherited susceptibility to specific histologic types of lung cancer is not well established. We conducted a GWAS of lung cancer and its major histologic types, genotyping 515,922 single-nucleotide polymorphisms (SNPs) in 5739 lung cancer cases and 5848 controls from one population-based case-control study and three cohort studies. Results were combined with summary data from ten additional studies, for a total of 13,300 cases and 19,666 controls of European descent. Four studies also provided histology data for replication, resulting in 3333 adenocarcinomas (AD), 2589 squamous cell carcinomas (SQ), and 1418 small cell carcinomas (SC). In analyses by histology, rs2736100 (TERT), on chromosome 5p15.33, was associated with risk of adenocarcinoma (odds ratio [OR] = 1.23, 95% confidence interval [CI] = 1.13–1.33, p = 3.02 × 10−7), but not with other histologic types (OR = 1.01, p = 0.84 and OR = 1.00, p = 0.93 for SQ and SC, respectively). This finding was confirmed in each replication study and overall meta-analysis (OR = 1.24, 95% CI = 1.17–1.31, p = 3.74 × 10−14 for AD; OR = 0.99, p = 0.69 and OR = 0.97, p = 0.48 for SQ and SC, respectively). Other previously reported association signals on 15q25 and 6p21 were also refined, but no additional loci reached genome-wide significance. In conclusion, a lung cancer GWAS identified a distinct hereditary contribution to adenocarcinoma. 相似文献
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Yan-Fung Wong Qing Sheng Janet WL Chung Jacky KF Chan King L Chow 《BMC developmental biology》2010,10(1):82
Background
C. elegans TGF-β-like Sma/Mab signaling pathway regulates both body size and sensory ray patterning. Most of the components in this pathway were initially identified by genetic screens based on the small body phenotype, and many of these mutants display sensory ray patterning defect. At the cellular level, little is known about how and where these components work although ray structural cell has been implicated as one of the targets. Based on the specific ray patterning abnormality, we aim to identify by RNAi approach additional components that function specifically in the ray lineage to elucidate the regulatory role of TGF-β signaling in ray differentiation. 相似文献10.
Stephen R. Williams Qiong Yang Fang Chen Xuan Liu Keith L. Keene Paul Jacques Wei-Min Chen Galit Weinstein Fang-Chi Hsu Alexa Beiser Liewei Wang Ebony Bookman Kimberly F. Doheny Philip A. Wolf Michelle Zilka Jacob Selhub Sarah Nelson Stephanie M. Gogarten Bradford B. Worrall Sudha Seshadri Michèle M. Sale the Genomics Randomized Trials Network the Framingham Heart Study 《PLoS genetics》2014,10(3)