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Forward genetics

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https://www.readbyqxmd.com/read/29232718/an-arabidopsis-nucleoporin-nup85-modulates-plant-responses-to-aba-and-salt-stress
#1
Yingfang Zhu, Bangshing Wang, Kai Tang, Chuan-Chih Hsu, Shaojun Xie, Hai Du, Yuting Yang, Weiguo Andy Tao, Jian-Kang Zhu
Several nucleoporins in the nuclear pore complex (NPC) have been reported to be involved in abiotic stress responses in plants. However, the molecular mechanism of how NPC regulates abiotic stress responses, especially the expression of stress responsive genes remains poorly understood. From a forward genetics screen using an abiotic stress-responsive luciferase reporter (RD29A-LUC) in the sickle-1 (sic-1) mutant background, we identified a suppressor caused by a mutation in NUCLEOPORIN 85 (NUP85), which exhibited reduced expression of RD29A-LUC in response to ABA and salt stress...
December 12, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29229523/inference-in-population-genetics-using-forward-and-backward-discrete-and-continuous-time-processes
#2
Juraj Bergman, Dominik Schrempf, Carolin Kosiol, Claus Vogl
A central aim of population genetics is the inference of the evolutionary history of a population. To this end, the underlying process can be represented by a model of the evolution of allele frequencies parametrized by e.g., the population size, mutation rates and selection coefficients. A large class of models use forward-in-time models, such as the discrete Wright-Fisher and Moran models and the continuous forward diffusion, to obtain distributions of population allele frequencies, conditional on an ancestral initial allele frequency distribution...
December 8, 2017: Journal of Theoretical Biology
https://www.readbyqxmd.com/read/29227993/in-vivo-zebrafish-morphogenesis-shows-cyp26b1-promotes-tendon-condensation-and-musculoskeletal-patterning-in-the-embryonic-jaw
#3
Patrick D McGurk, Mary E Swartz, Jessica W Chen, Jenna L Galloway, Johann K Eberhart
Integrated development of diverse tissues gives rise to a functional, mobile vertebrate musculoskeletal system. However, the genetics and cellular interactions that drive the integration of muscle, tendon, and skeleton are poorly understood. In the vertebrate head, neural crest cells, from which cranial tendons derive, pattern developing muscles just as tendons have been shown to in limb and trunk tissue, yet the mechanisms of this patterning are unknown. From a forward genetic screen, we determined that cyp26b1 is critical for musculoskeletal integration in the ventral pharyngeal arches, particularly in the mandibulohyoid junction where first and second arch muscles interconnect...
December 11, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29227332/recent-advances-in-the-diagnosis-of-malignant-mesothelioma-focus-on-approach-in-challenging-cases-and-in-limited-tissue-and-cytologic-samples
#4
Sara Monaco, Mitra Mehrad, Sanja Dacic
Mesothelial proliferations can be diagnostically challenging in small specimens, such as body fluid cytology and small tissue biopsies. A great morphologic challenge for pathologists is the separation of benign reactive mesothelial proliferations from malignant mesotheliomas. Reactive mesothelial proliferations may have histologic features that resemble malignancy including increased cellularity, cytologic atypia, and mitoses. Recent advances in mesothelioma genetics resulted in identification of BAP1 mutations and p16 deletions as features of malignant mesotheliomas...
January 2018: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/29226142/computational-exploration-for-lead-compounds-that-can-reverse-the-nuclear-morphology-in-progeria
#5
Shailima Rampogu, Ayoung Baek, Minky Son, Amir Zeb, Chanin Park, Raj Kumar, Gihwan Lee, Donghwan Kim, Yeonuk Choi, Yeongrae Cho, Yohan Park, Seok Ju Park, Keun Woo Lee
Progeria is a rare genetic disorder characterized by premature aging that eventually leads to death and is noticed globally. Despite alarming conditions, this disease lacks effective medications; however, the farnesyltransferase inhibitors (FTIs) are a hope in the dark. Therefore, the objective of the present article is to identify new compounds from the databases employing pharmacophore based virtual screening. Utilizing nine training set compounds along with lonafarnib, a common feature pharmacophore was constructed consisting of four features...
2017: BioMed Research International
https://www.readbyqxmd.com/read/29225758/an-in-vitro-transcription-assay-for-development-of-rotavirus-vp7
#6
Shahram Jalilian, Ali Teimoori, Manoochehr Makvandi, Milad Zandi
Background and Objectives: Human rotavirus (RV) is responsible for most cases of acute gastroenteritis in infants, worldwide. Today, in vitro transcription (IVT) assay is widely used to develop efficient RNA for the biological experiments such as gene function analysis and reverse genetics. The aim of this study was to develop optimal full-length transcripts of the VP7 segment, using in vitro transcription assay. Materials and Methods: Special primers were designed in order to synthesize VP7 sequence of sense RNA in the process of IVT using T7 RNA polymerase...
June 2017: Iranian Journal of Microbiology
https://www.readbyqxmd.com/read/29218308/opportunities-for-crispr-cas9-gene-editing-in-retinal-regeneration-research
#7
REVIEW
Leah J Campbell, David R Hyde
While retinal degeneration and disease results in permanent damage and vision loss in humans, the severely damaged zebrafish retina has a high capacity to regenerate lost neurons and restore visual behaviors. Advancements in understanding the molecular and cellular basis of this regeneration response give hope that strategies and therapeutics may be developed to restore sight to blind and visually-impaired individuals. Our current understanding has been facilitated by the amenability of zebrafish to molecular tools, imaging techniques, and forward and reverse genetic approaches...
2017: Frontiers in Cell and Developmental Biology
https://www.readbyqxmd.com/read/29217837/drug-development-in-the-era-of-precision-medicine
#8
REVIEW
Sarah A Dugger, Adam Platt, David B Goldstein
For the past three decades, the use of genomics to inform drug discovery and development pipelines has generated both excitement and scepticism. Although earlier efforts successfully identified some new drug targets, the overall clinical efficacy of developed drugs has remained unimpressive, owing in large part to the heterogeneous causes of disease. Recent technological and analytical advances in genomics, however, have now made it possible to rapidly identify and interpret the genetic variation underlying a single patient's disease, thereby providing a window into patient-specific mechanisms that cause or contribute to disease, which could ultimately enable the 'precise' targeting of these mechanisms...
December 8, 2017: Nature Reviews. Drug Discovery
https://www.readbyqxmd.com/read/29212717/adaptation-in-response-to-environmental-unpredictability
#9
Lluis Franch-Gras, Eduardo M García-Roger, Manuel Serra, María José Carmona
Understanding how organisms adaptively respond to environmental fluctuations is a fundamental question in evolutionary biology. The Mediterranean region typically exhibits levels of environmental unpredictability that vary greatly in habitats over small geographical scales. In cyclically parthenogenetic rotifers, clonal proliferation occurs along with occasional bouts of sex. These bouts contribute to the production of diapausing eggs, which allows survival between growing seasons. Here, we studied two diapause-related traits in rotifers using clones from nine Brachionus plicatilis natural populations that vary in the degree of environmental unpredictability...
December 6, 2017: Proceedings. Biological Sciences
https://www.readbyqxmd.com/read/29210109/xenotransplantation-back-to-the-future
#10
REVIEW
Raphael P H Meier, Yannick D Muller, Alexandre Balaphas, Philippe Morel, Manuel Pascual, Jörg D Seebach, Leo H Buhler
The field of xenotransplantation has fluctuated between great optimism and doubts over the last 50 years. The initial clinical attempts were extremely ambitious but faced technical and ethical issues that prompted the research community to go back to preclinical studies. Important players left the field due to perceived xenozoonotic risks and the lack of progress in pig-to-non-human-primate transplant models. Initial apparently unsurmountable issues appear now to be possible to overcome due to progress of genetic engineering, allowing the generation of multiple-xenoantigen knockout pigs that express human transgenes and the genome-wide inactivation of porcine endogenous retroviruses...
December 5, 2017: Transplant International: Official Journal of the European Society for Organ Transplantation
https://www.readbyqxmd.com/read/29205420/ca2-dependent-hyperpolarization-pathways-in-sleep-homeostasis-and-mental-disorders
#11
REVIEW
Shoi Shi, Hiroki R Ueda
Although we are beginning to understand the neuronal and biochemical nature of sleep regulation, questions remain about how sleep is homeostatically regulated. Beyond its importance in basic physiology, understanding sleep may also shed light on psychiatric and neurodevelopmental disorders. Recent genetic studies in mammals revealed several non-secretory proteins that determine sleep duration. Interestingly, genes identified in these studies are closely related to psychiatric and neurodevelopmental disorders, suggesting that the sleep-wake cycle shares some common mechanisms with these disorders...
December 4, 2017: BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology
https://www.readbyqxmd.com/read/29203634/mediator-complex-subunits-med2-med5-med16-and-med23-genetically-interact-in-the-regulation-of-phenylpropanoid-biosynthesis
#12
Whitney L Dolan, Brian P Dilkes, Jake M Stout, Nicholas D Bonawitz, Clint Chapple
The phenylpropanoid pathway is a major global carbon sink and is important for plant fitness and the engineering of bioenergy feedstocks. In Arabidopsis thaliana, disruption of two subunits of the transcriptional regulatory Mediator complex, MED5a and MED5b, results in an increase in phenylpropanoid accumulation. By contrast, the semi-dominant MED5b mutation reduced epidermal fluorescence4-3 (ref4-3) results in dwarfism and constitutively repressed phenylpropanoid accumulation. Here we report the results of a forward genetic screen for suppressors of ref4-3...
December 4, 2017: Plant Cell
https://www.readbyqxmd.com/read/29196249/deep-brain-stimulation-for-essential-tremor-a-comparison-of-targets
#13
Joost A H Holslag, Nienke Neef, Martijn Beudel, Gea Drost, D L Marinus Oterdoom, Naomi I Kremer, Teus van Laar, J Marc C van Dijk
INTRODUCTION: Deep Brain Stimulation (DBS) is an established treatment for refractory Essential Tremor (ET). Initially, the target of choice was the thalamic Ventral Inter Mediate nucleus (VIM). However, the Zona Incerta (ZI) has been put forward as a superior target. Both targets are considered safe and effective, but a direct comparison between these targets is lacking. METHODS: We analyzed a single-center cohort of 44 ET-patients treated with DBS between 1998 and 2017, targeting the VIM and/or ZI...
November 28, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29193751/the-triune-of-intestinal-microbiome-genetics-and-inflammatory-status-and-its-impact-on-lower-gastrointestinal-anastomosis-healing
#14
Jou A Lee, Timothy J A Chico, Stephen A Renshaw
Gastrointestinal resections are a common operation and most involve an anastomosis to re-join the ends of the remaining bowel to restore gastrointestinal (GIT) continuity. While most joins heal uneventfully, in up to 26% of patients healing fails and an anastomotic leak (AL) develops. Despite advances in surgical technology and techniques, the rate of anastomotic leaks has not decreased over the last few decades raising the possibility that perhaps we do not yet fully understand this phenomenon of AL and are thus ill-equipped to prevent it...
November 28, 2017: FEBS Journal
https://www.readbyqxmd.com/read/29192152/one-small-edit-for-humans-one-giant-edit-for-humankind-points-and-questions-to-consider-for-a-responsible-way-forward-for-gene-editing-in-humans
#15
Heidi C Howard, Carla G van El, Francesca Forzano, Dragica Radojkovic, Emmanuelle Rial-Sebbag, Guido de Wert, Pascal Borry, Martina C Cornel
Gene editing, which allows for specific location(s) in the genome to be targeted and altered by deleting, adding or substituting nucleotides, is currently the subject of important academic and policy discussions. With the advent of efficient tools, such as CRISPR-Cas9, the plausibility of using gene editing safely in humans for either somatic or germ line gene editing is being considered seriously. Beyond safety issues, somatic gene editing in humans does raise ethical, legal and social issues (ELSI), however, it is suggested to be less challenging to existing ethical and legal frameworks; indeed somatic gene editing is already applied in (pre-) clinical trials...
November 30, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29191164/weighted-likelihood-inference-of-genomic-autozygosity-patterns-in-dense-genotype-data
#16
Alexandra Blant, Michelle Kwong, Zachary A Szpiech, Trevor J Pemberton
BACKGROUND: Genomic regions of autozygosity (ROA) arise when an individual is homozygous for haplotypes inherited identical-by-descent from ancestors shared by both parents. Over the past decade, they have gained importance for understanding evolutionary history and the genetic basis of complex diseases and traits. However, methods to infer ROA in dense genotype data have not evolved in step with advances in genome technology that now enable us to rapidly create large high-resolution genotype datasets, limiting our ability to investigate their constituent ROA patterns...
December 1, 2017: BMC Genomics
https://www.readbyqxmd.com/read/29189406/cleidocranial-dysplasia-a-review-of-clinical-radiological-genetic-implications-and-a-guidelines-proposal
#17
Emilie Farrow, Romain Nicot, Axel Wiss, Amélie Laborde, Joël Ferri
In this review, we aimed to depict the clinical, radiological, and genetic features of cleidocranial dysplasia (CCD) and to suggest management guidelines, based on our experience of 8 cases, with an emphasis given to dental complications.The most common craniofacial features of CCD that stand out are a patency of the anterior fontanelle, an inverted pear-shaped calvaria, a hypertelorism, a general midface retrusion, and a mandible prognathism, associated with an excessive mobility of the shoulders, a short stature, and teeth abnormalities such as supernumerary teeth and failure of eruption, in particular...
November 17, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29188632/-advance-in-clinical-application-of-non-invasive-prenatal-screening-using-cell-free-fetal-dna
#18
Jilin Hu, Baosheng Zhu
Non-invasive prenatal screening using cell-free fetal DNA (NIPS) has been integrated into the prenatal health care only in a short span of five years, and the guidelines provided by professional bodies have been continuously updated. The American College of Medical Genetics and Genomics has made a statement on NIPS in July, 2016, suggesting that the NIPS can replace conventional screening for Patau, Edwards and Down syndromes in a continuum of gestational age and for any maternal age, except those who are significantly obese...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29188438/mapping-causal-mutations-by-exome-sequencing-in-a-wheat-tilling-population-a-tall-mutant-case-study
#19
Youngjun Mo, Tyson Howell, Hans Vasquez-Gross, Luis Alejandro de Haro, Jorge Dubcovsky, Stephen Pearce
Forward genetic screens of induced mutant plant populations are powerful tools to identify genes underlying phenotypes of interest. Using traditional techniques, mapping causative mutations from forward screens is a lengthy, multi-step process, requiring the identification of a broad genetic region followed by candidate gene sequencing to characterize the causal variant. Mapping by whole genome sequencing accelerates the identification of causal mutations by simultaneously defining a mapping region and providing information on the induced genetic variants...
November 29, 2017: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/29184021/forward-genetics-approach-reveals-host-genotype-dependent-importance-of-accessory-chromosomes-in-the-fungal-wheat-pathogen-zymoseptoria-tritici
#20
Michael Habig, Jakob Quade, Eva Holtgrewe Stukenbrock
The fungal wheat pathogen Zymoseptoria tritici possesses a large complement of accessory chromosomes showing presence/absence polymorphism among isolates. These chromosomes encode hundreds of genes; however, their functional role and why the chromosomes have been maintained over long evolutionary times are so far not known. In this study, we addressed the functional relevance of eight accessory chromosomes in reference isolate IPO323. We induced chromosome losses by inhibiting the β-tubulin assembly during mitosis using carbendazim and generated several independent isogenic strains, each lacking one of the accessory chromosomes...
November 28, 2017: MBio
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