keyword
MENU ▼
Read by QxMD icon Read
search

Genetic screening

keyword
https://www.readbyqxmd.com/read/28445720/hsp90-is-essential-under-heat-stress-in-the-bacterium-shewanella-oneidensis
#1
Flora Ambre Honoré, Vincent Méjean, Olivier Genest
The Hsp90 chaperone is essential in eukaryotes and activates a large array of client proteins. In contrast, its role is still elusive in bacteria, and only a few Hsp90 bacterial clients are known. Here, we found that Hsp90 is essential in the model bacterium Shewanella oneidensis under heat stress. A genetic screen for Hsp90 client proteins identified TilS, an essential protein involved in tRNA maturation. Overexpression of TilS rescued the growth defect of the hsp90 deletion strain under heat stress. In vivo, the activity and the amount of TilS were significantly reduced in the absence of Hsp90 at high temperature...
April 25, 2017: Cell Reports
https://www.readbyqxmd.com/read/28445602/identification-of-a-novel-mirna-that-increases-transient-protein-expression-in-combination-with-valproic-acid
#2
Hermann-Josef Meyer, Dorothea Reilly, Scott E Martin, Athena W Wong
Transient gene expression in mammalian cells is an efficient process to produce recombinant proteins for various research applications and large molecule therapeutics development. For the first time, we report a screen to identify human microRNAs (miRNAs) that increase titers after polyethylenimine (PEI) mediated transient transfection of a HEK293 cell line. From a library of 875 miRNAs, we identified 2 miRNAs, miR-26a-5p and miR-337-5p, that increased human IgG1 (huIgG1) yields by 50% and 25%, respectively...
April 26, 2017: Biotechnology Progress
https://www.readbyqxmd.com/read/28445553/a-novel-rat-head-gaze-determination-system-based-on-optomotor-responses
#3
Mengbo You, Toshiyuki Yamane, Hiroshi Tomita, Eriko Sugano, Takuya Akashi
The optomotor response of animals is commonly used to measure their visual performance, e.g., rats of different genetically altered strains or various drug tests. With the presentation of stimuli using computer screens or projectors, the common idea focuses on measuring the eye movement or head and/or body movement to characterize changes of the head gaze. However, traditional methods rely on either the invasive fixation of animals, or the judgment of a human observer who reports the stimulus-tracking movements...
2017: PloS One
https://www.readbyqxmd.com/read/28445532/use-of-molecular-markers-in-identification-and-characterization-of-resistance-to-rice-blast-in-india
#4
Manoj Kumar Yadav, Aravindan S, Umakanta Ngangkham, H N Shubudhi, Manas Kumar Bag, Totan Adak, Sushmita Munda, Sanghamitra Samantaray, Mayabini Jena
Rice blast disease caused by Magnaporthe oryzae is one of the most destructive disease causing huge losses to rice yield in different parts of the world. Therefore, an attempt has been made to find out the resistance by screening and studying the genetic diversity of eighty released rice varieties by National Rice Research Institute, Cuttack (NRVs) using molecular markers linked to twelve major blast resistance (R) genes viz Pib, Piz, Piz-t, Pik, Pik-p, Pikm Pik-h, Pita/Pita-2, Pi2, Pi9, Pi1 and Pi5. Out of which, nineteen varieties (23...
2017: PloS One
https://www.readbyqxmd.com/read/28445500/sf3b1-is-a-stress-sensitive-splicing-factor-that-regulates-both-hsf1-concentration-and-activity
#5
Karen S Kim Guisbert, Eric Guisbert
The heat shock response (HSR) is a well-conserved, cytoprotective stress response that activates the HSF1 transcription factor. During severe stress, cells inhibit mRNA splicing which also serves a cytoprotective function via inhibition of gene expression. Despite their functional interconnectedness, there have not been any previous reports of crosstalk between these two pathways. In a genetic screen, we identified SF3B1, a core component of the U2 snRNP subunit of the spliceosome, as a regulator of the heat shock response in Caenorhabditis elegans...
2017: PloS One
https://www.readbyqxmd.com/read/28445233/preclinical-models-for-translational-sarcoma-research
#6
Rainer Hamacher, Sebastian Bauer
PURPOSE OF REVIEW: Sarcoma is a basket term for mesenchymal tumors for which more than 75 genetically and histologically distinct subtypes are recognized. Therapeutic progress has largely been achieved with classical chemotherapeutic drugs that were tested in empirical clinical trials. However, outcome in metastatic patients remains poor and with few exceptions numerous trials have failed or only provided limited improvement in recent years. RECENT FINDINGS: Given the genomic heterogeneity, preclinical model systems will be indispensable to identify new molecular targets and to prioritize drugs and drug combinations...
April 25, 2017: Current Opinion in Oncology
https://www.readbyqxmd.com/read/28444691/maldi-ms-profiling-of-serum-o-and-n-glycosylation-in-cog5-cdg
#7
Angelo Palmigiano, Rosaria Ornella Bua, Rita Barone, Daisy Rymen, Luc Régal, Nicolas Deconinck, Carlo Dionisi-Vici, Cheuk-Wing Fung, Domenico Garozzo, Jaak Jaeken, Luisa Sturiale
Congenital disorders of glycosylation (CDG) are due to defective glycosylation of glycoconjugates. COG-CDG are genetic diseases due to defects of the conserved oligomeric Golgi (COG) complex subunits 1-8 causing N- and O-glycan processing abnormalities. In COG-CDG, IEF separation of undersialylated glycoforms of serum transferrin and apolipoprotein C-III (apoC-III) allows to detect N- and O-glycosylation defects respectively. COG5-CDG (COG5 subunit deficiency) is a multisystem disease with dysmorphic features, intellectual disability of variable degree, seizures, acquired microcephaly, sensory defects and autistic behavior...
April 25, 2017: Journal of Mass Spectrometry: JMS
https://www.readbyqxmd.com/read/28444650/-newborn-screening-on-cystic-fibrosis-in-germany-comparison-of-the-new-screening-protocol-with-an-alternative-protocol
#8
Olaf Sommerburg, Mirjam Stahl, Jutta Hammermann, Jürgen G Okun, Andreas Kulozik, Georg Hoffmann, Marcus Mall
Background For the new cystic fibrosis (CF) newborn screening program in Germany the Federal Joint Committee (G-BA) implemented a new screening protocol using immunoreactive trypsinogen (IRT) as first and pancreatitis associated protein (PAP) as second tier. Gene analysis with a panel of 31 CFTR-mutations is used as third tier to increase the positive predictive value (PPV) which is known to be low in pure biochemical IRT/PAP protocols. Methods For post hoc analysis the data pool (n=372 906) of a study evaluating a pure biochemical IRT/PAP protocol was used for assessment of the 3-step G-BA protocol in comparison with an alternative screening protocol recommended by the authors...
March 2017: Klinische Pädiatrie
https://www.readbyqxmd.com/read/28444538/occurrence-and-genetic-diversity-analysis-of-apple-stem-pitting-virus-isolated-from-apples-in-china
#9
Guo-Jun Hu, Ya-Feng Dong, Zun-Ping Zhang, Xu-Dong Fan, Fang Ren, Zhengnan Li
Two primer pairs were used to detect apple stem pitting virus (ASPV) using a reverse transcription (RT)-PCR test. 82 out of the 141 randomly collected samples, from ten orchards in five provinces and regions of China, tested positive. In the positive samples forty-five (55%) were infected by ASPV and two other viruses. The full coat protein (CP) and the triple gene block (TGB) gene 1, 2 and 3 of partial ASPV isolates were subsequently cloned. The nucleotide and amino acid identities of 39 CP sequence variants from 31 Chinese apple samples were compared with that of previously reported ASPV isolates and were 67...
April 25, 2017: Archives of Virology
https://www.readbyqxmd.com/read/28443101/characterization-of-soybean-genetically-modified-for-drought-tolerance-in-field-conditions
#10
Renata Fuganti-Pagliarini, Leonardo C Ferreira, Fabiana A Rodrigues, Hugo B C Molinari, Silvana R R Marin, Mayla D C Molinari, Juliana Marcolino-Gomes, Liliane M Mertz-Henning, José R B Farias, Maria C N de Oliveira, Norman Neumaier, Norihito Kanamori, Yasunari Fujita, Junya Mizoi, Kazuo Nakashima, Kazuko Yamaguchi-Shinozaki, Alexandre L Nepomuceno
Drought is one of the most stressful environmental factor causing yield and economic losses in many soybean-producing regions. In the last decades, transcription factors (TFs) are being used to develop genetically modified plants more tolerant to abiotic stresses. Dehydration responsive element binding (DREB) and ABA-responsive element-binding (AREB) TFs were introduced in soybean showing improved drought tolerance, under controlled conditions. However, these results may not be representative of the way in which plants behave over the entire season in the real field situation...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28442722/mutational-screening-of-slc39a5-leprel1-and-lrpap1-in-a-cohort-of-187-high-myopia-patients
#11
Chun-Yun Feng, Xiao-Qiong Huang, Xue-Wen Cheng, Rong-Han Wu, Fan Lu, Zi-Bing Jin
High myopia (HM) is a leading cause of mid-way blindness with a high heritability in East Asia. Although only a few disease genes have been reported, a small proportion of patients could be identified with genetic predispositions. In order to expand the mutation spectrum of the causative genes in Chinese adult population, we investigated three genes, SLC39A5, LEPREL1 and LRPAP1, in a cohort of 187 independent Chinese patients with high myopia. Sanger sequencing was used to find possible pathogenic mutations, which were further screened in normal controls...
April 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28442631/p53-dynamics-in-response-to-dna-damage-vary-across-cell-lines-and-are-shaped-by-efficiency-of-dna-repair-and-activity-of-the-kinase-atm
#12
Jacob Stewart-Ornstein, Galit Lahav
Cellular systems show a wide range of signaling dynamics. Many of these dynamics are highly stereotyped, such as oscillations at a fixed frequency. However, most studies looking at the role of signaling dynamics focus on one or a few cell lines, leaving the diversity of dynamics across tissues or cell lines a largely unexplored question. We focused on the dynamics of the tumor suppressor protein p53, which regulates cell cycle arrest and apoptosis in response to DNA damage. We established live-cell reporters for 12 cancer cell lines expressing wild-type p53 and quantified p53 dynamics in response to double-strand break-inducing DNA damage...
April 25, 2017: Science Signaling
https://www.readbyqxmd.com/read/28442450/implementing-an-internet-delivered-skin-cancer-genetic-testing-intervention-to-improve-sun-protection-behavior-in-a-diverse-population-protocol-for-a-randomized-controlled-trial
#13
Jennifer L Hay, Marianne Berwick, Kate Zielaskowski, Kirsten Am White, Vivian M Rodríguez, Erika Robers, Dolores D Guest, Andrew Sussman, Yvonne Talamantes, Matthew R Schwartz, Jennie Greb, Jessica Bigney, Kimberly A Kaphingst, Keith Hunley, David B Buller
BACKGROUND: Limited translational genomic research currently exists to guide the availability, comprehension, and appropriate use of personalized genomics in diverse general population subgroups. Melanoma skin cancers are preventable, curable, common in the general population, and disproportionately increasing in Hispanics. OBJECTIVE: Variants in the melanocortin-1 receptor (MC1R) gene are present in approximately 50% of the population, are major factors in determining sun sensitivity, and confer a 2-to-3-fold increase in melanoma risk in the general population, even in populations with darker skin...
April 25, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/28442219/virulence-potential-of-staphylococcus-aureus-isolates-from-buruli-ulcer-patients
#14
Nana Ama Amissah, Monika A Chlebowicz, Anthony Ablordey, Caitlin S Tetteh, Isaac Prah, Tjip S van der Werf, Alex W Friedrich, Jan Maarten van Dijl, Ymkje Stienstra, John W Rossen
Buruli ulcer (BU) is a necrotizing infection of the skin and subcutaneous tissue caused by Mycobacterium ulcerans. BU wounds may also be colonized with other microorganisms including Staphylococcus aureus. This study aimed to characterize the virulence factors of S. aureus isolated from BU patients. Previously sequenced genomes of 21 S. aureus isolates from BU patients were screened for the presence of virulence genes. The results show that all S. aureus isolates harbored on their core genomes genes for known virulence factors like α-hemolysin, and the α- and β-phenol soluble modulins...
April 19, 2017: International Journal of Medical Microbiology: IJMM
https://www.readbyqxmd.com/read/28441955/self-in-compatibility-in-apricot-germplasm-is-controlled-by-two-major-loci-s-and-m
#15
Juan Vicente Muñoz-Sanz, Elena Zuriaga, Inmaculada López, María L Badenes, Carlos Romero
BACKGROUND: Apricot (Prunus armeniaca L.) exhibits a gametophytic self-incompatibility (GSI) system and it is mostly considered as a self-incompatible species though numerous self-compatible exceptions occur. These are mainly linked to the mutated S C-haplotype carrying an insertion in the S-locus F-box gene that leads to a truncated protein. However, two S-locus unlinked pollen-part mutations (PPMs) termed m and m' have also been reported to confer self-compatibility (SC) in the apricot cultivars 'Canino' and 'Katy', respectively...
April 26, 2017: BMC Plant Biology
https://www.readbyqxmd.com/read/28441825/-progressive-cavitating-leukoencephalopathy-four-cases-and-literatures-review
#16
C H Ren, F Fang, H Cheng, C H Ding, C H Chen, Y J Zhang, D M Shen
Objective: To analyze the clinical and genetic features of progressive cavitating leukoencephalopathy (PCL). Method: The data of clinical and genetic features of 4 PCL patients diagnosed by Beijing Children's Hospital between January 2015 and January 2016 were analyzed. The cases with complete clinical data retrieved on literature search at China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform and PubMed (up to August 2016) by using search terms of"NDUFV1" ,"NDUFS1" , or"leukoencephalopathy" , were summarized...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28441660/the-phenotype-and-outcome-of-infantile-cardiomyopathy-caused-by-a-homozygous-elac2-mutation
#17
Zarghuna M A Shinwari, Abdulrahman Almesned, Ali Alakhfash, Ahmad M Al-Rashdan, Eissa Faqeih, Zainab Al-Humaidi, Ahmed Alomrani, Malak Alghamdi, Dilek Colak, Abdullah Alwadai, Monther Rababh, Majid Al-Fayyadh, Zuhair N Al-Hassnan
OBJECTIVE: Cardiomyopathy (CMP) in children is a clinically and genetically heterogeneous group of disorders. Disease-associated mutations have been identified in more than 50 genes. Recently, mutations in the mitochondrial tRNA processing gene, ELAC2, were reported to be associated with the recessively inherited form of hypertrophic CMP (HCM). This study is aimed at describing the cardiac phenotype and outcome of ELAC2 mutation. METHODS: We performed whole exome sequencing followed by targeted mutation screening to identify the genetic etiology of severe infantile-onset CMP in 64 consanguineous Saudi families...
April 26, 2017: Cardiology
https://www.readbyqxmd.com/read/28441061/precisely-where-are-we-going-charting-the-new-terrain-of-precision-prevention
#18
Karen M Meagher, Michelle L McGowan, Richard A Settersten, Jennifer R Fishman, Eric T Juengst
In addition to genetic data, precision medicine research gathers information about three factors that modulate gene expression: lifestyles, environments, and communities. The relevant research tools-epidemiology, environmental assessment, and socioeconomic analysis-are those of public health sciences rather than molecular biology. Because these methods are designed to support inferences and interventions addressing population health, the aspirations of this research are expanding from individualized treatment toward precision prevention in public health...
April 24, 2017: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/28440912/performance-of-in-silico-tools-for-the-evaluation-of-p16ink4a-cdkn2a-variants-in-cagi
#19
Marco Carraro, Giovanni Minervini, Manuel Giollo, Yana Bromberg, Emidio Capriotti, Rita Casadio, Roland Dunbrack, Lisa Elefanti, Pietro Fariselli, Carlo Ferrari, Julian Gough, Panagiotis Katsonis, Emanuela Leonardi, Olivier Lichtarge, Chiara Menin, Pier Luigi Martelli, Abhishek Niroula, Lipika R Pal, Susanna Repo, Maria Chiara Scaini, Mauno Vihinen, Qiong Wei, Qifang Xu, Yuedong Yang, Yizhou Yin, Jan Zaucha, Huiying Zhao, Yaoqi Zhou, Steven E Brenner, John Moult, Silvio C E Tosatto
Correct phenotypic interpretation of variants of unknown significance for cancer-associated genes is a diagnostic challenge as genetic screenings gain in popularity in the next-generation sequencing era. The Critical Assessment of Genome Interpretation (CAGI) experiment aims to test and define the state of the art of genotype-phenotype interpretation. Here, we present the assessment of the CAGI p16INK4a challenge. Participants were asked to predict the effect on cellular proliferation of ten variants for the p16INK4a tumor suppressor, a cyclin-dependent kinase inhibitor encoded by the CDKN2A gene...
April 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/28439798/the-changing-landscape-of-genetic-testing-for-inherited-breast-cancer-predisposition
#20
REVIEW
Anosheh Afghahi, Allison W Kurian
The advent of multiple-gene germline panel testing has led to significant advances in hereditary breast and ovarian cancer risk assessment. These include guideline-specific cancer risk management recommendations for patients and their families, such as screening with breast magnetic resonance imaging and risk-reducing surgeries, which have the potential to reduce substantially the morbidity and mortality associated with a hereditary cancer predisposition. However, controversy remains about the clinical validity and actionability of genetic testing in a broader patient population...
May 2017: Current Treatment Options in Oncology
keyword
keyword
19662
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"