keyword
MENU ▼
Read by QxMD icon Read
search

Phenotypic screen

keyword
https://www.readbyqxmd.com/read/28645207/development-and-validation-of-an-electronic-medical-record-emr-based-computed-phenotype-of-hiv-1-infection
#1
Devon W Paul, Nigel B Neely, Meredith Clement, Isaretta Riley, Mashael Al-Hegelan, Matthew Phelan, Monica Kraft, David M Murdoch, Joseph Lucas, John Bartlett, Mehri McKellar, Loretta G Que
Background: Electronic medical record (EMR) computed algorithms allow investigators to screen thousands of patient records to identify specific disease cases. No computed algorithms have been developed to detect all cases of human immunodeficiency virus (HIV) infection using administrative, laboratory, and clinical documentation data outside of the Veterans Health Administration. We developed novel EMR-based algorithms for HIV detection and validated them in a cohort of subjects in the Duke University Health System (DUHS)...
June 22, 2017: Journal of the American Medical Informatics Association: JAMIA
https://www.readbyqxmd.com/read/28644898/spatio-temporal-orientation-of-microtubules-controls-conical-cell-shape-in-arabidopsis-thaliana-petals
#2
Huibo Ren, Xie Dang, Xianzhi Cai, Peihang Yu, Yajun Li, Shanshan Zhang, Menghong Liu, Binqing Chen, Deshu Lin
The physiological functions of epidermal cells are largely determined by their diverse morphologies. Most flowering plants have special conical-shaped petal epidermal cells that are thought to influence light capture and reflectance, and provide pollinator grips, but the molecular mechanisms controlling conical cell shape remain largely unknown. Here, we developed a live-confocal imaging approach to quantify geometric parameters of conical cells in Arabidopsis thaliana (A.thaliana). Through genetic screens, we identified katanin (KTN1) mutants showing a phenotype of decreased tip sharpening of conical cells...
June 23, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28644734/high-throughput-phenotypic-screening-of-kinase-inhibitors-to-identify-drug-targets-for-polycystic-kidney-disease
#3
Tijmen H Booij, Hester Bange, Wouter N Leonhard, Kuan Yan, Michiel Fokkelman, Steven J Kunnen, Johannes G Dauwerse, Yu Qin, Bob van de Water, Gerard J P van Westen, Dorien J M Peters, Leo S Price
Polycystic kidney disease (PKD) is a prevalent disorder characterized by renal cysts that lead to kidney failure. Various signaling pathways have been targeted to stop disease progression, but most interventions still focus on alleviating PKD-associated symptoms. The mechanistic complexity of the disease, as well as the lack of functional in vitro assays for compound testing, has made drug discovery for PKD challenging. To identify modulators of PKD, Pkd1(-/-) kidney tubule epithelial cells were applied to a scalable and automated 3D cyst culture model for compound screening, followed by phenotypic profiling to determine compound efficacy...
June 1, 2017: SLAS Discovery
https://www.readbyqxmd.com/read/28644047/mutational-analysis-of-galt-gene-in-greek-patients-with-galactosaemia-identification-of-two-novel-mutations-and-clinical-evaluation
#4
Kleopatra H Schulpis, Georgia Thodi, Konstantinos Iakovou, Maria Chatzidaki, Yannis Dotsikas, Elina Molou, Olga Triantafylli, Yannis L Loukas
Classical galactosaemia is an inborn error of metabolism due to the deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). The aim of the study was to identify the underlying mutations in Greek patients with GALT deficiency and evaluate their psychomotor and speech development. Patients with GALT deficiency (n = 17) were picked up through neonatal screening. Mutational analysis was conducted via Sanger sequencing, while in silico analysis was used in the cases of novel missense mutations...
June 23, 2017: Scandinavian Journal of Clinical and Laboratory Investigation
https://www.readbyqxmd.com/read/28643921/whole-exome-sequencing-identified-a-variant-in-eftud2-gene-in-establishing-a-genetic-diagnosis
#5
S Rengasamy Venugopalan, E G Farrow, M Lypka
OBJECTIVES: Craniofacial anomalies are complex and have an overlapping phenotype. Mandibulofacial Dysostosis and Oculo-Auriculo-Vertebral Spectrum are conditions that share common craniofacial phenotype and present a challenge in arriving at a diagnosis. In this report, we present a case of female proband who was given a differential diagnosis of Treacher Collins syndrome or Hemifacial Microsomia without certainty. Prior genetic testing reported negative for 22q deletion and FGFR screenings...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28643361/screening-for-del-phenotype-in-rhd-negative-indians
#6
Swati Kulkarni, Disha S Parchure, Vidya Gopalkrishnan, Manisha Madkaikar
BACKGROUND: DEL phenotype represents a very weak form of D variant detected only by adsorption and elution technique. DEL phenotype individuals mistyped as RhD-negative can lead to alloimmunization after transfusion or pregnancy. Molecular techniques have now been used to identify DEL variants. They are commonly encountered in the East Asian population with RHD(K409K) being the most frequent allele. RHD(M295I) is the most common DEL allele in Caucasians. As there is a paucity of data on DEL phenotype in the Indian population, the study aims to screen RhD negative individuals for two most common DEL mutations...
June 23, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28642752/a-comprehensive-epidemiological-research-for-clinical-vibrio-parahaemolyticus-in-shanghai
#7
Huan Li, Rong Tang, Yang Lou, Zelin Cui, Wenjing Chen, Qing Hong, Zhaohuan Zhang, Pradeep K Malakar, Yingjie Pan, Yong Zhao
Vibrio parahaemolyticus is one of the most important pathogen for seafood-borne gastroenteritis in Shanghai and the rest of the world. A total of 42 V. parahaemolyticus strains were isolated from 1900 fecal specimens collected from patients in Shanghai hospital presenting from January 2014 to December 2015. All isolates were evaluated for potential virulence factors [tdh, trh, and type three secretion system (T3SS) genes], typed using multilocus sequence typing (MLST) and screened for antimicrobial resistance phenotype and genotype...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28640841/a-sorghum-sorghum-bicolor-mutant-with-altered-carbon-isotope-ratio
#8
Govinda Rizal, Shanta Karki, Vivek Thakur, Samart Wanchana, Hugo Alonso-Cantabrana, Jacque Dionora, John E Sheehy, Robert Furbank, Susanne von Caemmerer, William Paul Quick
Recent efforts to engineer C4 photosynthetic traits into C3 plants such as rice demand an understanding of the genetic elements that enable C4 plants to outperform C3 plants. As a part of the C4 Rice Consortium's efforts to identify genes needed to support C4 photosynthesis, EMS mutagenized sorghum populations were generated and screened to identify genes that cause a loss of C4 function. Stable carbon isotope ratio (δ13C) of leaf dry matter has been used to distinguishspecies with C3 and C4 photosynthetic pathways...
2017: PloS One
https://www.readbyqxmd.com/read/28640355/screening-of-melon-genotypes-for-resistance-to-vegetable-leafminer-and-your-phenotypic-correlations-with-colorimetry
#9
Frederico I C DE Oliveira, Leonardo B C Fiege, Elaine F Celin, Renato Innecco, Glauber H S Nunes, Fernando A S DE Aragão
Melon is one of the most important vegetable crops in the world. With short cycle in a system of phased planting, phytosanitary control is compromised, and a great volume of agricultural chemicals is used to control vegetable leafminer. Genetic control is an ideal alternative to avoid the damage caused by this insect. Thus, the aim of this study was to evaluate Cucumis accessions in regard to resistance to leafminer and correlate the variables analyzed. Fifty-four accessions and four commercial hybrids of melon were tested...
April 2017: Anais da Academia Brasileira de Ciências
https://www.readbyqxmd.com/read/28639938/a-pilot-study-of-large-scale-production-of-mutant-pigs-by-enu-mutagenesis
#10
Tang Hai, Chunwei Cao, Haitao Shang, Weiwei Guo, Yanshuang Mu, Shulin Yang, Ying Zhang, Qiantao Zheng, Tao Zhang, Xianlong Wang, Yu Liu, Qingran Kong, Kui Li, Dayu Wang, Meng Qi, Qianlong Hong, Rui Zhang, Xiupeng Wang, Qitao Jia, Xiao Wang, Guosong Qin, Yongshun Li, Ailing Luo, Weiwu Jin, Jing Yao, Jiaojiao Huang, Hongyong Zhang, Menghua Li, Xiangmo Xie, Xuejuan Zheng, Kenan Guo, Qinhua Wang, Shibin Zhang, Liang Li, Fei Xie, Yu Zhang, Xiaogang Weng, Zhi Yin, Kui Hu, Yimei Cong, Peng Zheng, Hailong Zou, Leilei Xin, Jihan Xia, Jinxue Ruan, Hegang Li, Weiming Zhao, Jing Yuan, Zizhan Liu, Weiwang Gu, Ming Li, Yong Wang, Hongmei Wang, Shiming Yang, Zhonghua Liu, Hong Wei, Jianguo Zhao, Qi Zhou, Anming Meng
N-ethyl-N-nitrosourea (ENU) mutagenesis is a powerful tool to efficiently generate large scale of mutants and discover genes with novel functions at the whole-genome level in C. elegans, flies, zebrafish and mice, but has never been tried in large model animals. In the current study, we reported a successful systematic three-generation ENU mutagenesis screening in pigs with the establishment of Chinese Swine Mutagenesis Consortium. A total of 6,770 G1 and 6,800 G3 pigs were screened, 36 dominant and 91 recessive novel pig families with various phenotypes were established...
June 22, 2017: ELife
https://www.readbyqxmd.com/read/28638582/an-overview-of-inflammatory-bowel-disease-general-consideration-and-genetic-screening-approach-in-diagnosis-of-early-onset-subsets
#11
REVIEW
Shahram Nemati, Shahram Teimourian
Inflammatory bowel disease (IBD) is the consequence of an aberrant hemostasis of the immune cells at the gut mucosal border. Based on clinical manifestation, laboratory tests, radiological studies, endoscopic and histological features, this disease is divided into three main types including Crohn's disease (CD), Ulcerative colitis (UC), and IBDunclassified (IBD-U). IBD is frequently presented in adults, but about 20% of IBD cases are diagnosed during childhood called pediatric IBD (PIBD). Some patients in the latter group emerge the first symptoms during infancy or under 5 years of age named infantile and very early onset IBD (VEO-IBD), respectively...
April 2017: Middle East Journal of Digestive Diseases
https://www.readbyqxmd.com/read/28638437/a-multiplex-pcr-for-rapid-identification-of-brassica-species-in-the-triangle-of-u
#12
Joshua C O Koh, Denise M Barbulescu, Sally Norton, Bob Redden, Phil A Salisbury, Sukhjiwan Kaur, Noel Cogan, Anthony T Slater
BACKGROUND: Within the Brassicaceae, six species from the genus Brassica are widely cultivated throughout the world as oilseed, condiment, fodder or vegetable crops. The genetic relationships among the six Brassica species are described by U's triangle model. Extensive shared traits and diverse morphotypes among Brassica species make identification and classification based on phenotypic data alone challenging and unreliable, especially when dealing with large germplasm collections. Consequently, a major issue for genebank collections is ensuring the correct identification of species...
2017: Plant Methods
https://www.readbyqxmd.com/read/28638412/molecular-identification-of-aminoglycoside-modifying-enzymes-and-plasmid-mediated-quinolone-resistance-genes-among-klebsiella-pneumoniae-clinical-isolates-recovered-from-egyptian-patients
#13
Mohamed F El-Badawy, Wael M Tawakol, Shaymaa W El-Far, Ibrahim A Maghrabi, Saleh A Al-Ghamdi, Moselhy S Mansy, Mohammed S Ashour, Mohamed M Shohayeb
Inappropriate use of antibiotics in clinical settings is thought to have led to the global emergence and spread of multidrug-resistant pathogens. The goal of this study was to investigate the prevalence of genes encoding aminoglycoside resistance and plasmid-mediated quinolone resistance among clinical isolates of Klebsiella pneumoniae. All K. pneumoniae isolates were phenotypically identified using API 20E and then confirmed genotypically through amplification of the specific K. pneumoniae phoE gene. All isolates were genotyped by the enterobacterial repetitive intergenic consensus polymerase chain reaction technique (ERIC-PCR)...
2017: International Journal of Microbiology
https://www.readbyqxmd.com/read/28638210/why-is-diagnosing-mdd-challenging
#14
Xiaohua Liu, Kaida Jiang
Depression is highly prevalent and one of the major contributors to disability worldwide. However, one of the findings from the DSM-5 field trials was that inter-rater reliability for diagnosing major depressive disorder was very poor. Why is diagnosing MDD so challenging? This article attempts to explain why undefined pathogenesis and complicated phenotypes complicate the diagnosis of MDD. However, further biomarker and translational research is still necessary to help clinicians screen and diagnose depression in the future rather than relying solely on current subjective diagnostic criteria...
December 25, 2016: Shanghai Archives of Psychiatry
https://www.readbyqxmd.com/read/28637619/practical-considerations-for-diagnosis-and-management-of-patients-and-carriers
#15
REVIEW
Charlotte M Niemeyer, Cristina Mecucci
Newly diagnosed children and adults with myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) need to be screened for presence of a genetic predisposition syndrome because the information on the genetic status is likely to influence clinical care and management of the patient and the family. Scenarios in which genetic counseling is advised include presence of a mutation on somatic screen that can be associated with a germline predisposition, hematologic or cytogenetic characteristics suggestive of an underlying susceptibility syndrome, non-hematological phenotype suspicious for a familial condition, history of previous malignancy, or a family history of cancer, cytopenia, autoimmunity, or organ-system manifestation fitting a predisposition syndrome...
April 2017: Seminars in Hematology
https://www.readbyqxmd.com/read/28636348/the-development-of-an-aryloxazole-class-of-hepatitis-c-virus-inhibitors-targeting-the-entry-stage-of-the-viral-replication-cycle
#16
Shanshan He, Kelin Li, Billy Lin, Zonyi Hu, Jingbo Xiao, Xin Hu, Amy Q Wang, Xin Xu, Marc Ferrer, Noel Southall, Wei Zheng, Jeffrey Aubé, Frank J Schoenen, Juan J Marugan, T Jake Liang, Kevin J Frankowski
Reliance on hepatitis C virus (HCV) replicon systems and protein-based screening assays has led to treatments that target HCV viral replication proteins. The model does not encompass other viral replication cycle steps, such as entry, processing, assembly and secretion, or viral host factors. We previously applied a phenotypic high-throughput screening platform based on an infectious HCV system and discovered an aryloxazole-based anti-HCV hit. Structure-activity relationship studies revealed several compounds exhibiting EC50 values below 100 nM...
June 21, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28636311/insights-into-integrated-lead-generation-and-target-identification-in-malaria-and-tuberculosis-drug-discovery
#17
John Okombo, Kelly Chibale
New, safe and effective drugs are urgently needed to treat and control malaria and tuberculosis, which affect millions of people annually. However, financial return on investment in the poor settings where these diseases are mostly prevalent is very minimal to support market-driven drug discovery and development. Moreover, the imminent loss of therapeutic lifespan of existing therapies due to evolution and spread of drug resistance further compounds the urgency to identify novel effective drugs. However, the advent of new public-private partnerships focused on tropical diseases and the recent release of large data sets by pharmaceutical companies on antimalarial and antituberculosis compounds derived from phenotypic whole cell high throughput screening have spurred renewed interest and opened new frontiers in malaria and tuberculosis drug discovery...
June 21, 2017: Accounts of Chemical Research
https://www.readbyqxmd.com/read/28634239/the-dual-activity-responsible-for-the-elongation-and-branching-of-%C3%AE-1-3-glucan-in-the-fungal-cell-wall
#18
Vishukumar Aimanianda, Catherine Simenel, Cecile Garnaud, Cecile Clavaud, Rui Tada, Lise Barbin, Isabelle Mouyna, Christoph Heddergott, Laura Popolo, Yoshikazu Ohya, Muriel Delepierre, Jean-Paul Latge
β-(1,3)-Glucan, the major fungal cell wall component, ramifies through β-(1,6)-glycosidic linkages, which facilitates its binding with other cell wall components contributing to proper cell wall assembly. Using Saccharomyces cerevisiae as a model, we developed a protocol to quantify β-(1,6)-branching on β-(1,3)-glucan. Permeabilized S. cerevisiae and radiolabeled substrate UDP-((14)C)glucose allowed us to determine branching kinetics. A screening aimed at identifying deletion mutants with reduced branching among them revealed only two, the bgl2Δ and gas1Δ mutants, showing 15% and 70% reductions in the branching, respectively, compared to the wild-type strain...
June 20, 2017: MBio
https://www.readbyqxmd.com/read/28634238/electron-transport-chain-is-biochemically-linked-to-pilus-assembly-required-for-polymicrobial-interactions-and-biofilm-formation-in-the-gram-positive-actinobacterium-actinomyces-oris
#19
Belkys C Sanchez, Chungyu Chang, Chenggang Wu, Bryan Tran, Hung Ton-That
The Gram-positive actinobacteria Actinomyces spp. are key colonizers in the development of oral biofilms due to the inherent ability of Actinomyces to adhere to receptor polysaccharides on the surface of oral streptococci and host cells. This receptor-dependent bacterial interaction, or coaggregation, requires a unique sortase-catalyzed pilus consisting of the pilus shaft FimA and the coaggregation factor CafA forming the pilus tip. While the essential role of the sortase machine SrtC2 in pilus assembly, biofilm formation, and coaggregation has been established, little is known about trans-acting factors contributing to these processes...
June 20, 2017: MBio
https://www.readbyqxmd.com/read/28634182/sf3b1-initiating-mutations-in-mds-with-ring-sideroblasts-target-lymphomyeloid-hematopoietic-stem-cells
#20
Teresa Mortera-Blanco, Marios Dimitriou, Petter S Woll, Mohsen Karimi, Edda Elvarsdottir, Simona Conte, Magnus Tobiasson, Monika Jansson, Iyadh Douagi, Matahi Moarii, Leonie Saft, Elli Papaemmanuil, Sten Eirik W Jacobsen, Eva Hellström-Lindberg
Mutations in the RNA splicing gene SF3B1 are found in more than 80% of patients with myelodysplastic syndrome with ring sideroblasts (MDS-RS). We investigated the origin of SF3B1 mutations within the bone marrow hematopoietic stem and progenitor cell compartments in patients with MDS-RS. Screening for recurrently mutated genes in the mononuclear cell fraction revealed mutations in SF3B1 in 39 of 40 cases (97.5%), combined with TET2 and DNMT3A in 11 (28%) and 6 (15%) patients, respectively. All recurrent mutations identified in mononuclear cells could be tracked back to the phenotypically defined hematopoietic stem cell (HSC) compartment in all investigated patients, and were also present in downstream myeloid and erythroid progenitor cells...
June 20, 2017: Blood
keyword
keyword
52988
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"