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1.
Emily Olfson Catherine E. Cottrell Nicholas O. Davidson Christina A. Gurnett Jonathan W. Heusel Nathan O. Stitziel Li-Shiun Chen Sarah Hartz Rakesh Nagarajan Nancy L. Saccone Laura J. Bierut 《PloS one》2015,10(9)
The American College of Medical Genetics and Genomics (ACMG) recommends that clinical sequencing laboratories return secondary findings in 56 genes associated with medically actionable conditions. Our goal was to apply a systematic, stringent approach consistent with clinical standards to estimate the prevalence of pathogenic variants associated with such conditions using a diverse sequencing reference sample. Candidate variants in the 56 ACMG genes were selected from Phase 1 of the 1000 Genomes dataset, which contains sequencing information on 1,092 unrelated individuals from across the world. These variants were filtered using the Human Gene Mutation Database (HGMD) Professional version and defined parameters, appraised through literature review, and examined by a clinical laboratory specialist and expert physician. Over 70,000 genetic variants were extracted from the 56 genes, and filtering identified 237 variants annotated as disease causing by HGMD Professional. Literature review and expert evaluation determined that 7 of these variants were pathogenic or likely pathogenic. Furthermore, 5 additional truncating variants not listed as disease causing in HGMD Professional were identified as likely pathogenic. These 12 secondary findings are associated with diseases that could inform medical follow-up, including cancer predisposition syndromes, cardiac conditions, and familial hypercholesterolemia. The majority of the identified medically actionable findings were in individuals from the European (5/379) and Americas (4/181) ancestry groups, with fewer findings in Asian (2/286) and African (1/246) ancestry groups. Our results suggest that medically relevant secondary findings can be identified in approximately 1% (12/1092) of individuals in a diverse reference sample. As clinical sequencing laboratories continue to implement the ACMG recommendations, our results highlight that at least a small number of potentially important secondary findings can be selected for return. Our results also confirm that understudied populations will not reap proportionate benefits of genomic medicine, highlighting the need for continued research efforts on genetic diseases in these populations. 相似文献
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C Steegborn A Messerschmidt B Laber W Streber R Huber T Clausen 《Journal of molecular biology》1999,290(5):983-996
Cystathionine gamma-synthase catalyses the committed step of de novo methionine biosynthesis in micro-organisms and plants, making the enzyme an attractive target for the design of new antibiotics and herbicides. The crystal structure of cystathionine gamma-synthase from Nicotiana tabacum has been solved by Patterson search techniques using the structure of Escherichia coli cystathionine gamma-synthase. The model was refined at 2.9 A resolution to a crystallographic R -factor of 20.1 % (Rfree25.0 %). The physiological substrates of the enzyme, L-homoserine phosphate and L-cysteine, were modelled into the unliganded structure. These complexes support the proposed ping-pong mechanism for catalysis and illustrate the dissimilar substrate specificities of bacterial and plant cystathionine gamma-synthases on a molecular level. The main difference arises from the binding modes of the distal substrate groups (O -acetyl/succinyl versusO -phosphate). Central in fixing the distal phosphate of the plant CGS substrate is an exposed lysine residue that is strictly conserved in plant cystathionine gamma-synthases whereas bacterial enzymes carry a glycine residue at this position. General insight regarding the reaction specificity of transsulphuration enzymes is gained by the comparison to cystathionine beta-lyase from E. coli, indicating the mechanistic importance of a second substrate binding site for L-cysteine which leads to different chemical reaction types. 相似文献
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Emily L. Germain John W. Littlefield 《In vitro cellular & developmental biology. Plant》1986,22(2):107-112
Summary Stem cells of the embryonal carcinoma cell line called H6 can be induced to differnetiate to endoderm-like cells by retinoic
acid (3×10−6
M). We have detected a diffusible and stable factor which is secreted by H6 endoderm-like cells and stimulates the growth of
H6 stem cells. The stimulation by the endoderm-like cells is considereably greater than that by mouse fibroblasts or H6 stem
cells themselves. No reciprocal stimulation of endoderm-like cells by stem cells occurs. Part but not all of the stimulation
might be due to extracellular matrix proteins or to insulin-like growth factor type 2, each of which also stimulates the growth
of H6 stem cells. Insulin causes no such stimulation.
This work was supported by research rant no. CA-16754 from the National Cancer Institute to J. W. L. E. L. G. was supported
by an American Heart Association Medical Student Research Award.
Editor's Statement This paper presents a good example of cooperativity between undifferentiated teratoma stem cells and differentiated
parietal endoderm-derived countrparts in terms of growth support. It raises the interesting question of the relationship between
factors produced by paprietal and visceral endoderm cells. Gordon H. Sato 相似文献
6.
Sicyos motozintlensis is described from the vicinity of Motozintla de Mendoza, Chiapas. It shows a strong similarity toS. chiriquensis Hammel & D’Arcy from Panama. 相似文献
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Emily H.C. Chua 《The journal of the Royal Anthropological Institute》2023,29(2):268-285
The tech startup is a globally admired and emulated form of enterprise, celebrated for its capacity to turn lines of digital code into lean and lucrative businesses. Drawing on recent work in the anthropology of money, I argue that the tech startup's rise is not only leading people to pursue new ways of making money but also giving rise to new constructions of the character and value of money itself. The article follows two startup founders in Singapore – where technocratic state authorities actively encourage citizens to found startup ventures – over three years of developing and marketing their products and attempting to raise investment funds. I show how the founders’ conceptions of the monies at play in their ventures led them to stake not only their economic futures, but also the social and moral worth of their persons on their startup's success. Emerging startup sectors thus draw people into more far-reaching forms of self-experimentation than the discourses of entrepreneurial risk and economic reward that surround them let on. 相似文献
9.
Simona Picardi Briana Abrahms Emily Gelzer Thomas A. Morrison Tana Verzuh Jerod A. Merkle 《Ecology letters》2023,26(1):157-169
Site fidelity—the tendency to return to previously visited locations—is widespread across taxa. Returns may be driven by several mechanisms, including memory, habitat selection, or chance; however, pattern-based definitions group different generating mechanisms under the same label of ‘site fidelity’, often assuming memory as the main driver. We propose an operational definition of site fidelity as patterns of return that deviate from a null expectation derived from a memory-free movement model. First, using agent-based simulations, we show that without memory, intrinsic movement characteristics and extrinsic landscape characteristics are key determinants of return patterns and that even random movements may generate substantial probabilities of return. Second, we illustrate how to implement our framework empirically to establish ecologically meaningful, system-specific null expectations for site fidelity. Our approach provides a conceptual and operational framework to test hypotheses on site fidelity across systems and scales. 相似文献
10.
Niraj Shrestha Pallavi Chaturvedi Xiaoyun Zhu Michael J. Dee Varghese George Christopher Janney Jack O. Egan Bai Liu Mark Foster Lynne Marsala Pamela Wong Celia C. Cubitt Jennifer A. Foltz Jennifer Tran Timothy Schappe Karin Hsiao Gilles M. Leclerc Lijing You Christian Echeverri Catherine Spanoudis Ana Carvalho Leah Kanakaraj Crystal Gilkes Nicole Encalada Lin Kong Meng Wang Byron Fang Zheng Wang Jin-an Jiao Gabriela J. Muniz Emily K. Jeng Nicole Valdivieso Liying Li Richard Deth Melissa M. Berrien-Elliott Todd A. Fehniger Peter R. Rhode Hing C. Wong 《Aging cell》2023,22(5):e13806