共查询到20条相似文献,搜索用时 8 毫秒
1.
Mammalian Genome - Surprisingly we remain ignorant of the function of the majority of genes in the human and mouse genomes. The dark genome is a major obstacle to the interpretation of the function... 相似文献
2.
基因组编辑技术的飞速发展,尤其是近年来CRISPR/Cas9基因组编辑体系的出现,使得研究人员能高效地在细胞系和动物模型中对基因组进行精确编辑。基于基因组编辑技术的各种实验研究平台被相继开发,包括通过在细胞系中引入疾病相关突变位点建立疾病模型,通过高通量筛选寻找导致肿瘤耐药性的突变基因,通过体内原位靶向致病基因并修改突变进行基因治疗等。这些基因组编辑技术研究平台极大推动了精准医学研究领域的发展。本文对基因组编辑技术在精准医学领域的基础研究、转化应用、目前存在的问题以及未来发展的方向进行了讨论。 相似文献
3.
4.
5.
Manipulating the mouse genome: implications for neurobiology 总被引:4,自引:0,他引:4
6.
Wirth D Gama-Norton L Riemer P Sandhu U Schucht R Hauser H 《Current opinion in biotechnology》2007,18(5):411-419
In the past years, recombinase-based approaches for integrating transgenes into defined chromosomal loci of mammalian cells have gained increasing attention. This method is attractive since it enables to precisely integrate transgenes of interest into pre-defined integration sites, thereby allowing to predict the expression properties of a genetically manipulated cell. This review focuses on the current state of targeting strategies including RMCE employing site-specific recombinases such as Cre, Flp and PhiC31. In particular, applications for protein expression, virus production, transgenic animals and chromosome engineering are described. 相似文献
7.
《American journal of human genetics》2022,109(9):1605-1619
- Download : Download high-res image (165KB)
- Download : Download full-size image
8.
Systemic treatments (e.g., chemotherapy and targeted therapies) have limited efficacy for patients with locally advanced – unresectable – and metastatic cholangiocarcinoma (CCA), with an overall survival of less than a year. Tumor microenvironment (TME) represents the ecosystem surrounding the tumor which comprises immune cells, fibroblasts, endothelial cells, and a wide range of soluble factors. CCA TME is characterized by an abundant desmoplastic stroma, exhibits a high heterogeneity and it plays a central role in cancer onset and progression. There is growing evidence suggesting that it is possible to target TME in association with other treatment modalities, such as cytotoxic chemotherapy or targeted therapies, paving the way to possible combination strategies with a synergistic effect. Herein, we describe the components of CCA TME – such as cancer-associated fibroblasts and other cells of pivotal importance - with their most relevant interactions, focusing on the preclinical rationale for the development of effective anticancer treatments. 相似文献
9.
Ursula B Kaiser 《Cell research》2015,25(6):649-650
10.
正Medical genetics is defined as a branch of medicine that involves the diagnosis and management of hereditary disorders by applying genetics to medical care.The Human Genome Project,initiated in1990 and completed in 2004,has profoundly changed biology and is rapidly catalyzing a transformation of medical genetics and medicine in general(Collins and McKusick,2001;Green and Guyer,2011).Before the Human Genome Project,researchers 相似文献
11.
Co-amplification of L1 line elements with localised low copy repeats in Giemsa dark bands: implications for genome organisation. 总被引:2,自引:1,他引:1
下载免费PDF全文
![点击此处可从《Nucleic acids research》网站下载免费的PDF全文](/ch/ext_images/free.gif)
A repeat sequence island, located at the A3 Giemsa dark band on the mouse X chromosome and consisting of 50 copies of a localised long complex repeat unit (LCRU), features an unusually high concentration of L1 LINE repeat sequences juxtaposed and inserted within the LCRU. Sequence analysis of three independent genomic clones containing L1 LINE elements juxtaposed with the LCRU demonstrates a common junction sequence at the L1/LCRU boundary, suggesting that the high concentration of L1 LINE sequences in the repeat sequence island has arisen by association of an L1 element with an LCRU followed by amplification. The LCRU target site at this common junction sequence bears no resemblance to the target site of an L1 element inserted within one LCRU, indicating there is no specific preferential target site for L1 integration. We propose that co-amplification of L1 LINE elements with localised low copy repeat families throughout the genome could have a major effect on the chromosomal distribution of L1 LINE elements. 相似文献
12.
精准医疗强调针对不同个体定制个性化治疗方案,其推行需要精准疾病模型的建立。人类干细胞因其具有多能性而成为体外不同类型的成体细胞和器官小体的潜在来源,其强增殖能力保证了充足原材料用于科研分析和大规模药物筛选。基因组编辑技术(尤其是CRISPR/Cas9技术)的快速发展使得在人多能干细胞和成体干细胞中进行高效基因组编辑成为可能。两者的有效结合能建立起针对不同遗传致病背景的“个性化”疾病模型,有利于深入解析不同遗传突变的致病机制和开发高针对性的精准医疗方案。本文对基因组编辑技术在人类干细胞中的应用以及利用干细胞疾病模型模拟罕见病和肿瘤发生的研究进行了综述。 相似文献
13.
For decades, plant molecular biology has focused on only a few angiosperm species. Recently, the approximately 500mega base pairs (Mb) of the haploid Physcomitrella patens genome were sequenced and annotated. Mosses such as P. patens occupy a key evolutionary position halfway between green algae and flowering plants. This draft genome, in comparison to existing genome data from other plants, allows evolutionary insights into the conquest of land by plants and the molecular biodiversity that land plants exhibit. As a model organism, P. patens provides a well-developed molecular toolbox, including efficient gene targeting in combination with the morphologically simple moss tissues. We describe current as well as future tools for P. patens research and the prospects they offer for plant research in general. 相似文献
14.
15.
The human genome project--some implications of extensive "reverse genetic" medicine 总被引:1,自引:1,他引:0
下载免费PDF全文
![点击此处可从《American journal of human genetics》网站下载免费的PDF全文](/ch/ext_images/free.gif)
T Friedmann 《American journal of human genetics》1990,46(3):407-414
Impressive progress has been made during the past several decades in understanding the pathogenesis of human genetic disease. The tools of molecular biology have allowed the isolation of many disease-related genes by forward and a few by reverse genetics, and the imminent completion of a complete human genetic linkage map will accelerate the genetic characterization of many more genetic diseases. The major impacts of the molecular characterization of human genetic diseases will be 1. To increase markedly the number of human diseases that we recognize to have major genetic components. We already understand that genetic diseases are not rare medical curiosities with negligible societal impact, but rather constitute a wide spectrum of both rare and extremely common diseases responsible for an immense amount of suffering in all human societies. The characterization of the human genome will lead to the identification of genetic factors in many more human diseases, even those that now seem too multifactorial or polygenic for ready understanding. 2. To allow the development of powerful new approaches to diagnosis, detection, screening and even therapy of these disorders aimed directly at the mutant genes rather than at the gene products. This should eventually allow much more accurate and specific management of human genetic disease and the genetic factors in many human maladies. The preparation of a fine-structure physical map of the entire human genome together with an overlapping contiguous set of clones spanning entire chromosomes or large portions of chromosomes is rapidly becoming feasible, and the information that will flow from this effort promises eventually to affect the management of many important genetic diseases.(ABSTRACT TRUNCATED AT 250 WORDS) 相似文献
16.
The completed human genome: implications for chemical biology 总被引:3,自引:0,他引:3
Austin CP 《Current opinion in chemical biology》2003,7(4):511-515
The recently completed human genome sequence represents an enormous opportunity to understand biology and accelerate the development of new therapeutics. However, it also presents equally large logistical, scientific and paradigmatic challenges to efficiently translate the enormous cache of sequence data into functional information that will be the precursor of new drug development. Small-molecule chemical biology applied on a genomic scale promises to speed this translation to novel therapeutics. 相似文献
17.
《Biochimica et Biophysica Acta (BBA)/Molecular and Cell Biology of Lipids》2017,1862(8):804-807
This essay is to provide my personal view of lipidomics for precision medicine and lipid metabolism on its experimental procedures, inherent limitations, assessment of cross-platform reproducibility, available resource, and future challenges. This article is part of a Special Issue entitled: BBALIP_Lipidomics Opinion Articles edited by Sepp Kohlwein. 相似文献
18.
《Neuron》2021,109(24):3914-3929
19.
20.