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Human gene editing

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https://www.readbyqxmd.com/read/28318500/mutations-in-tmem260-cause-a-pediatric-neurodevelopmental-cardiac-and-renal-syndrome
#1
Asaf Ta-Shma, Tahir N Khan, Asaf Vivante, Jason R Willer, Pavle Matak, Chaim Jalas, Ben Pode-Shakked, Yishay Salem, Yair Anikster, Friedhelm Hildebrandt, Nicholas Katsanis, Orly Elpeleg, Erica E Davis
Despite the accelerated discovery of genes associated with syndromic traits, the majority of families affected by such conditions remain undiagnosed. Here, we employed whole-exome sequencing in two unrelated consanguineous kindreds with central nervous system (CNS), cardiac, renal, and digit abnormalities. We identified homozygous truncating mutations in TMEM260, a locus predicted to encode numerous splice isoforms. Systematic expression analyses across tissues and developmental stages validated two such isoforms, which differ in the utilization of an internal exon...
March 11, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28304362/bdnf-variants-may-modulate-long-term-visual-memory-performance-in-a-healthy-cohort
#2
Nesli Avgan, Heidi G Sutherland, Lauren K Spriggens, Chieh Yu, Omar Ibrahim, Claire Bellis, Larisa M Haupt, David H K Shum, Lyn R Griffiths
Brain-derived neurotrophic factor (BDNF) is involved in numerous cognitive functions including learning and memory. BDNF plays an important role in synaptic plasticity in humans and rats with BDNF shown to be essential for the formation of long-term memories. We previously identified a significant association between the BDNF Val66Met polymorphism (rs6265) and long-term visual memory (p-value = 0.003) in a small cohort (n = 181) comprised of healthy individuals who had been phenotyped for various aspects of memory function...
March 17, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28303292/editing-the-genome-of-hipsc-with-crispr-cas9-disease-models
#3
REVIEW
Andrew R Bassett
The advent of human-induced pluripotent stem cell (hiPSC) technology has provided a unique opportunity to establish cellular models of disease from individual patients, and to study the effects of the underlying genetic aberrations upon multiple different cell types, many of which would not normally be accessible. Combining this with recent advances in genome editing techniques such as the clustered regularly interspaced short palindromic repeat (CRISPR) system has provided an ability to repair putative causative alleles in patient lines, or introduce disease alleles into a healthy "WT" cell line...
March 16, 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/28294295/breast-cancer-major-changes-in-the-american-joint-committee-on-cancer-eighth-edition-cancer-staging-manual
#4
Armando E Giuliano, James L Connolly, Stephen B Edge, Elizabeth A Mittendorf, Hope S Rugo, Lawrence J Solin, Donald L Weaver, David J Winchester, Gabriel N Hortobagyi
Answer questions and earn CME/CNE The revision of the eighth edition of the primary tumor, lymph node, and metastasis (TNM) classification of the American Joint Commission of Cancer (AJCC) for breast cancer was determined by a multidisciplinary team of breast cancer experts. The panel recognized the need to incorporate biologic factors, such as tumor grade, proliferation rate, estrogen and progesterone receptor expression, human epidermal growth factor 2 (HER2) expression, and gene expression prognostic panels into the staging system...
March 14, 2017: CA: a Cancer Journal for Clinicians
https://www.readbyqxmd.com/read/28292896/loss-of-lmod1-impairs-smooth-muscle-cytocontractility-and-causes-megacystis-microcolon-intestinal-hypoperistalsis-syndrome-in-humans-and-mice
#5
Danny Halim, Michael P Wilson, Daniel Oliver, Erwin Brosens, Joke B G M Verheij, Yu Han, Vivek Nanda, Qing Lyu, Michael Doukas, Hans Stoop, Rutger W W Brouwer, Wilfred F J van IJcken, Orazio J Slivano, Alan J Burns, Christine K Christie, Karen L de Mesy Bentley, Alice S Brooks, Dick Tibboel, Suowen Xu, Zheng Gen Jin, Tono Djuwantono, Wei Yan, Maria M Alves, Robert M W Hofstra, Joseph M Miano
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a congenital visceral myopathy characterized by severe dilation of the urinary bladder and defective intestinal motility. The genetic basis of MMIHS has been ascribed to spontaneous and autosomal dominant mutations in actin gamma 2 (ACTG2), a smooth muscle contractile gene. However, evidence suggesting a recessive origin of the disease also exists. Using combined homozygosity mapping and whole exome sequencing, a genetically isolated family was found to carry a premature termination codon in Leiomodin1 (LMOD1), a gene preferentially expressed in vascular and visceral smooth muscle cells...
March 14, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28292838/ethical-issues-in-human-organoid-and-gastruloid-research
#6
Megan Munsie, Insoo Hyun, Jeremy Sugarman
Research involving human organoids and gastruloids involves ethical issues associated with their derivation as well as their current and future uses. These include unique issues related to the extent of maturation that can be achieved in vitro or through chimeric research, as well as fundamental ethical considerations such as those concerning the provenance of human biomaterials and the use of gene-editing technologies. Many of these issues are not specifically addressed by existing ethics oversight mechanisms, but these mechanisms might be easily extended to help ensure that human organoid and related research moves forward in an ethically appropriate manner...
March 15, 2017: Development
https://www.readbyqxmd.com/read/28288556/guide-picker-is-a-comprehensive-design-tool-for-visualizing-and-selecting-guides-for-crispr-experiments
#7
Soren H Hough, Kris Kancleris, Leigh Brody, Neil Humphryes-Kirilov, Joseph Wolanski, Keith Dunaway, Ayokunmi Ajetunmobi, Victor Dillard
BACKGROUND: Guide Picker ( https://www.deskgen.com/guide-picker/ ) serves as a meta tool for designing CRISPR experiments by presenting ten different guide RNA scoring functions in one simple graphical interface. It allows investigators to simultaneously visualize and sort through every guide targeting the protein-coding regions of any mouse or human gene. RESULTS: Utilizing a multidimensional graphical display featuring two plots and four axes, Guide Picker can analyze all guides while filtering based on four different criteria at a time...
March 14, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/28287608/genome-editing-and-directed-differentiation-of-hpscs-for-interrogating-lineage-determinants-in-human-pancreatic-development
#8
Zhong-Dong Shi, Chew-Li Soh, Zengrong Zhu, Danwei Huangfu
Interrogating gene function in self-renewing or differentiating human pluripotent stem cells (hPSCs) offers a valuable platform towards understanding human development and dissecting disease mechanisms in a dish. To capitalize on this potential application requires efficient genome-editing tools to generate hPSC mutants in disease-associated genes, as well as in vitro hPSC differentiation protocols to produce disease-relevant cell types that closely recapitulate their in vivo counterparts. An efficient genome-editing platform for hPSCs named iCRISPR has been developed through the TALEN-mediated targeting of a Cas9 expression cassette in the AAVS1 locus...
March 5, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28277978/targeted-dna-demethylation-in-human-cells-by-fusion-of-a-plant-5-methylcytosine-dna-glycosylase-to-a-sequence-specific-dna-binding-domain
#9
Jara Teresa Parrilla-Doblas, Rafael R Ariza, Teresa Roldán-Arjona
DNA methylation is a crucial epigenetic mark associated to gene silencing, and its targeted removal is a major goal of epigenetic editing. In animal cells, DNA demethylation involves iterative 5mC oxidation by TET enzymes followed by replication-dependent dilution and/or replication-independent DNA repair of its oxidized derivatives. In contrast, plants use specific DNA glycosylases that directly excise 5mC and initiate its substitution for unmethylated C in a base excision repair process. In this work, we have fused the catalytic domain of Arabidopsis ROS1 5mC DNA glycosylase (ROS1_CD) to the DNA binding domain of yeast GAL4 (GBD)...
February 23, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/28275380/genetic-transformation-and-genomic-resources-for-next-generation-precise-genome-engineering-in-vegetable-crops
#10
REVIEW
Teodoro Cardi, Nunzio D'Agostino, Pasquale Tripodi
In the frame of modern agriculture facing the predicted increase of population and general environmental changes, the securement of high quality food remains a major challenge to deal with. Vegetable crops include a large number of species, characterized by multiple geographical origins, large genetic variability and diverse reproductive features. Due to their nutritional value, they have an important place in human diet. In recent years, many crop genomes have been sequenced permitting the identification of genes and superior alleles associated with desirable traits...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28275188/the-deacetylase-sirt1-regulates-the-replication-properties-of-human-papillomavirus-16-e1-and-e2
#11
Dipon Das, Nathan Smith, Xu Wang, Iain M Morgan
Human papillomaviruses (HPV) replicate their genomes in differentiating epithelium using the viral proteins E1 and E2 in association with host proteins. While the roles of E1 and E2 in this process are understood, the host factors involved and how they interact with and regulate E1-E2 are not. Our previous work identified the host replication and repair factor TopBP1 as an E2 partner protein essential for optimal E1-E2 replication and for the viral life cycle. The role of TopBP1 in host DNA replication is regulated by the class III deacetylase SIRT1; activation of the DNA damage response prevents SIRT1 deacetylation of TopBP1 resulting in a switch from DNA replication to repair functions for this protein and cell cycle arrest...
March 8, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28270572/creb-signaling-is-involved-in-rett-syndrome-pathogenesis
#12
Qian Bu, Anxin Wang, Hamdi Hamzah, Alex Waldman, Keer Jiang, Qiping Dong, Ronghui Li, Jason Kim, Daniel Turner, Qiang Chang
Rett syndrome (RTT) is a debilitating neurodevelopmental disorder caused by mutations in the MECP2 gene. To facilitate the study of cellular mechanisms in human cells, we established several human stem cell lines: human embryonic stem cell (hESC) line carrying the common T158M mutation (MECP2(T158M/T158M) ), hESC line expressing no MECP2 (MECP2-KO), congenic pair of wild type and mutant RTT patient-specific induced pluripotent stem cell (iPSC) line carrying the V247fs mutation (V247fs-WT and V247fs-MT), and iPSC line in which the V247fs mutation was corrected by CRISPR/Cas9-based genome editing (V247fs-MT-correction)...
March 7, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28270008/gene-delivery-to-the-lungs-pulmonary-gene-therapy-for-cystic-fibrosis
#13
Ilia Villate-Beitia, Jon Zarate, Gustavo Puras, José Luis Pedraz
Cystic fibrosis (CF) is a monogenic autosomal recessive disorder where the defective gene, the cystic fibrosis transmembrane conductance regulator (CFTR), is well identified. Moreover, the respiratory tract can be targeted through noninvasive aerosolized formulations for inhalation. Therefore, gene therapy is considered a plausible strategy to address this disease. Conventional gene therapy strategies rely on the addition of a correct copy of the CFTR gene into affected cells in order to restore the channel activity...
March 7, 2017: Drug Development and Industrial Pharmacy
https://www.readbyqxmd.com/read/28265714/a-short-history-of-the-5-ht2c-receptor-from-the-choroid-plexus-to-depression-obesity-and-addiction-treatment
#14
REVIEW
Jose M Palacios, Angel Pazos, Daniel Hoyer
This paper is a personal account on the discovery and characterization of the 5-HT2C receptor (first known as the 5-HT1C receptor) over 30 years ago and how it translated into a number of unsuspected features for a G protein-coupled receptor (GPCR) and a diversity of clinical applications. The 5-HT2C receptor is one of the most intriguing members of the GPCR superfamily. Initially referred to as 5-HT1CR, the 5-HT2CR was discovered while studying the pharmacological features and the distribution of [(3)H]mesulergine-labelled sites, primarily in the brain using radioligand binding and slice autoradiography...
March 7, 2017: Psychopharmacology
https://www.readbyqxmd.com/read/28256506/astrocyte-pathology-in-a-human-neural-stem-cell-model-of-frontotemporal-dementia-caused-by-mutant-tau-protein
#15
Anna-Lena Hallmann, Marcos J Araúzo-Bravo, Lampros Mavrommatis, Marc Ehrlich, Albrecht Röpke, Johannes Brockhaus, Markus Missler, Jared Sterneckert, Hans R Schöler, Tanja Kuhlmann, Holm Zaehres, Gunnar Hargus
Astroglial pathology is seen in various neurodegenerative diseases including frontotemporal dementia (FTD), which can be caused by mutations in the gene encoding the microtubule-associated protein TAU (MAPT). Here, we applied a stem cell model of FTD to examine if FTD astrocytes carry an intrinsic propensity to degeneration and to determine if they can induce non-cell-autonomous effects in neighboring neurons. We utilized CRISPR/Cas9 genome editing in human induced pluripotent stem (iPS) cell-derived neural progenitor cells (NPCs) to repair the FTD-associated N279K MAPT mutation...
March 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28254804/gene-editing-with-crispr-cas9-rna-directed-nuclease
#16
REVIEW
Thomas Doetschman, Teodora Georgieva
Genetic engineering of model organisms and cultured cells has for decades provided important insights into the mechanisms underlying cardiovascular development and disease. In the past few years the development of several nuclease systems has broadened the range of model/cell systems that can be engineered. Of these, the CRISPR (clustered regularly interspersed short palindromic repeats)/Cas9 (CRISPR-associated protein 9) system has become the favorite for its ease of application. Here we will review this RNA-guided nuclease system for gene editing with respect to its usefulness for cardiovascular studies and with an eye toward potential therapy...
March 3, 2017: Circulation Research
https://www.readbyqxmd.com/read/28251317/crispr-cas9-mediated-gene-editing-in-human-zygotes-using-cas9-protein
#17
Lichun Tang, Yanting Zeng, Hongzi Du, Mengmeng Gong, Jin Peng, Buxi Zhang, Ming Lei, Fang Zhao, Weihua Wang, Xiaowei Li, Jianqiao Liu
Previous works using human tripronuclear zygotes suggested that the clustered regularly interspaced short palindromic repeat (CRISPR)/Cas9 system could be a tool in correcting disease-causing mutations. However, whether this system was applicable in normal human (dual pronuclear, 2PN) zygotes was unclear. Here we demonstrate that CRISPR/Cas9 is also effective as a gene-editing tool in human 2PN zygotes. By injection of Cas9 protein complexed with the appropriate sgRNAs and homology donors into one-cell human embryos, we demonstrated efficient homologous recombination-mediated correction of point mutations in HBB and G6PD...
March 1, 2017: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/28251316/editor-s-comment-on-crispr-cas9-mediated-gene-editing-in-human-zygotes-using-cas9-protein
#18
EDITORIAL
Stefan Hohmann
No abstract text is available yet for this article.
March 1, 2017: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/28249798/mesenchymal-stem-cells-derived-extracellular-vesicles-via-mir-210-improve-infarcted-cardiac-function-by-promotion-of-angiogenesis
#19
Na Wang, Caiyu Chen, Dezhong Yang, Qiao Liao, Hao Luo, Xinquan Wang, Faying Zhou, Xiaoli Yang, Jian Yang, Chunyu Zeng, Wei Eric Wang
Mesenchymal stem cells (MSCs) exert therapeutic effect on treating acute myocardial infarction. Recent evidence showed that paracrine function rather than direct differentiation predominately contributes to the beneficial effects of MSCs, but how the paracrine factors function are not fully elucidated. In the present study, we tested if extracellular vesicles (EVs) secreted by MSC promotes angiogenesis in infracted heart via microRNAs. Immunostaining of CD31 and matrigel plug assay were performed to detect angiogenesis in a mouse myocardial infarction (MI) model...
February 27, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28246397/relationship-between-somatic-mosaicism-of-pax6-mutation-and-variable-developmental-eye-abnormalities-an-analysis-of-crispr-genome-edited-mouse-embryos
#20
Akihiro Yasue, Hitomi Kono, Munenori Habuta, Tetsuya Bando, Keita Sato, Junji Inoue, Seiichi Oyadomari, Sumihare Noji, Eiji Tanaka, Hideyo Ohuchi
The clustered regularly interspaced short palindromic repeat (CRISPR)/CRISPR-associated protein (Cas) system is a rapid gene-targeting technology that does not require embryonic stem cells. To demonstrate dosage effects of the Pax6 gene on eye formation, we generated Pax6-deficient mice with the CRISPR/Cas system. Eyes of founder embryos at embryonic day (E) 16.5 were examined and categorized according to macroscopic phenotype as class 1 (small eye with distinct pigmentation), class 2 (pigmentation without eye globes), or class 3 (no pigmentation and no eyes)...
December 2017: Scientific Reports
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