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low level mutation

Pegah Nazari Mir Seyed, Julia Riedl, Matthias Preusser, Florian Posch, Johannes Thaler, Christine Marosi, Peter Birner, Gerda Ricken, Johannes A Hainfellner, Ingrid Pabinger, Cihan Ay
BACKGROUND: Venous thromboembolism (VTE) is a frequent complication in primary brain tumor patients. Independent studies revealed that podoplanin expression in brain tumors is associated with increased VTE risk, while the isocitrate dehydrogenase 1 (IDH1) mutation is associated with very low VTE risk. OBJECTIVES: To investigate the interrelation between intratumoral podoplanin expression and IDH1 mutation, and their mutual impact on VTE development. PATIENTS/METHODS: In a prospective cohort study, intratumoral IDH1 R132H mutation and podoplanin were determined in brain tumor specimens (mainly glioma) by immunohistochemistry...
April 19, 2018: Journal of Thrombosis and Haemostasis: JTH
Ashley B Morris, Joey Shaw
Plant studies comprise a relatively small proportion of the phylogeographic literature, likely as a consequence of the fundamental challenges posed by the complex genomic structures and life history strategies of these organisms. Comparative plastomics (i.e., comparisons of mutation rates within and among regions of the chloroplast genome) across plant lineages has led to an increased understanding of which markers are likely to provide the most information at low taxonomic levels. However, the extent to which the results of such work have influenced the literature have not been fully assessed, nor has the extent to which plant phylogeographers explicitly analyze markers in time and space, both of which are integral components of the field...
April 19, 2018: Molecular Ecology
Mohammad-Reza Ghovanloo, Mena Abdelsayed, Colin H Peters, Peter C Ruben
Skeletal muscle channelopathies, many of which are inherited as autosomal dominant mutations, include myotonia and periodic paralysis. Myotonia is defined by a delayed relaxation after muscular contraction, whereas periodic paralysis is defined by episodic attacks of weakness. One sub-type of periodic paralysis, known as hypokalemic periodic paralysis (hypoPP), is associated with low potassium levels. Interestingly, the P1158S missense mutant, located in the third domain S4-S5 linker of the "skeletal muscle", Nav1...
April 19, 2018: Scientific Reports
Apar Pataer, Ruping Shao, Arlene M Correa, Carmen Behrens, Jack A Roth, Ara A Vaporciyan, Ignacio I Wistuba, Stephen G Swisher
In a previous study, we determined that major pathologic response (MPR) as indicated by the percentage of residual viable tumor cells predicted overall survival (OS) in patients with non-small-cell lung cancer (NSCLC) who received neoadjuvant chemotherapy. In this study, we assessed whether two genes and five protein biomarkers could predict MPR and OS in 98 patients with NSCLC receiving neoadjuvant chemotherapy. We collected formalin-fixed, paraffin-embedded specimens of resected NSCLC tumors from 98 patients treated with neoadjuvant chemotherapy...
April 19, 2018: Cancer Medicine
Jia He, Mingli Xu, Matthew R Willmann, Kevin McCormick, Tieqiang Hu, Li Yang, Colby G Starker, Daniel F Voytas, Blake C Meyers, R Scott Poethig
Vegetative phase change is regulated by a decrease in the abundance of the miRNAs, miR156 and miR157, and the resulting increase in the expression of their targets, SQUAMOSA PROMOTER BINDING PROTEIN-LIKE (SPL) transcription factors. To determine how miR156/miR157 specify the quantitative and qualitative changes in leaf morphology that occur during vegetative phase change, we measured their abundance in successive leaves and characterized the phenotype of mutations in different MIR156 and MIR157 genes. miR156/miR157 decline rapidly between leaf 1&2 and leaf 3 and decrease more slowly after this point...
April 19, 2018: PLoS Genetics
Annica Hedberg, Erik Knutsen, Anne Silje Løvhaugen, Tor Erik Jørgensen, Maria Perander, Steinar D Johansen
Low-level mitochondrial heteroplasmy is a common phenomenon in both normal and cancer cells. Here, we investigate the link between low-level heteroplasmy and mitogenome mutations in a human breast cancer matched cell line by high-throughput sequencing. We identified 23 heteroplasmic sites, of which 15 were common between normal cells (Hs578Bst) and cancer cells (Hs578T). Most sites were clustered within the highly conserved Complex IV and ribosomal RNA genes. Two heteroplasmic variants in normal cells were found as fixed mutations in cancer cells...
April 19, 2018: Mitochondrial DNA. Part A. DNA Mapping, Sequencing, and Analysis
Tim Cundy, Michael Dray, John Delahunt, Jannie Dahl Hald, Bente Langdahl, Chumei Li, Marta Szybowska, Shehla Mohammed, Emma L Duncan, Aideen M McInerney-Leo, Patricia G Wheeler, Paul Roschger, Klaus Klaushofer, Jyoti Rai, MaryAnn Weis, David Eyre, Ulrike Schwarze, Peter H Byers
Osteogenesis imperfecta (OI) is a genetic bone disorder characterized by fractures, low bone mass, and skeletal fragility. It most commonly arises from dominantly inherited mutations in the genes COL1A1 and COL1A2 that encode the chains of type I collagen. A number of recent reports have suggested that mutations affecting the carboxyl-terminal propeptide cleavage site in the products of either COL1A1 or COL1A2 give rise to a form of OI characterized by unusually dense bones. We have assembled clinical, biochemical, and molecular data from 29 individuals from 8 families with 7 different mutations affecting the C-propeptide cleavage site...
April 18, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
Patcharee Komvilaisak, Arunee Jetsrisuparb, Goonnapa Fucharoen, Ratana Komwilaisak, Junya Jirapradittha, Pakaphan Kiatchoosakun
BACKGROUND: Hemoglobin (Hb) Constant Spring is an alpha-globin gene variant due to a mutation of the stop codon resulting in the elongation of the encoded polypeptide from 141 to 172 amino acid residues. Patients with homozygous Hb Constant Spring are usually mildly anemic. METHODS: We retrospectively describe clinical manifestations, diagnosis, laboratory investigations, treatment, and associated findings in pediatric patients with homozygous Hb Constant Spring followed-up at Srinagarind Hospital...
April 17, 2018: Journal of Pediatric Hematology/oncology
Wen Gao, Jun Yin, Lichen Bao, Qun Wang, Shan Hou, Yali Yue, Wenbing Yao, Xiangdong Gao
Escherichia coli extracellular expression systems have a number of advantages over other systems, such as lower pyrogen levels and simplifier purification. Various approaches, such as the generation of leaky mutants via chromosomal engineering, have been explored for this expression system. However, extracellular protein yields in leaky mutants are relatively low compared to intracellular expression systems and therefore need to be improved. In this work, we describe the construction, characterization and mechanism of enhanced extracellular expression in Escherichia coli...
April 18, 2018: ACS Synthetic Biology
Yongda Zhao, Lili Guo, Jie Li, Xianhui Huang, Binghu Fang
Background: Haemophilus parasuis is a common porcine respiratory pathogen that causes high rates of morbidity and mortality in farmed swine. We performed a molecular characterization of antimicrobial resistance genes harbored by H. parasuis from pig farms in China. Methods: We screened 143 H. parasuis isolates for antimicrobial susceptibility against six fluoroquinolone antibiotics testing by the broth microdilution method, and the presence of 64 antimicrobial resistance genes by PCR amplification and DNA sequence analysis...
2018: PeerJ
Xing Ge, Tofael Ahmed, Tiantao Zhang, Zhenying Wang, Kanglai He, Shuxiong Bai
Pheromone binding proteins (PBPs) play an important role in olfaction of insects by transporting sex pheromones across the sensillum lymph to odorant receptors. To obtain a better understanding of the molecular basis between PBPs and semiochemicals, we have cloned, expressed, and purified two PBPs (CpunPBP2 and CpunPBP5) from the antennae of Conogethes punctiferalis . Fluorescence competitive binding assays were used to investigate binding affinities of CpunPBP2 and CpunPBP5 to sex pheromone and volatiles. Results indicate both CpunPBP2 and CpunPBP5 bind sex pheromones E 10-16:Ald, Z 10-16:Ald and hexadecanal with higher affinities...
2018: Frontiers in Physiology
Ralf Küppers, Freda K Stevenson
The development of follicular lymphoma (FL) from a founder B cell with an upregulation of BCL2, via the t(14;18) translocation, to a proliferating clone, poised to undergo further transformation to an aggressive lymphoma, illustrates the opportunistic Darwinian process of tumorigenesis. Protection against apoptosis allows an innocent cell to persist and divide, with dangerous accumulation of further mutational changes, commonly involving inactivation of chromatin-modifying genes. But this is not all. FL cells reflect normal B cells in relying on expression of surface Ig...
April 17, 2018: Blood
Lingkun Zuo, Huanying Zhao, Ronghui Yang, Liyong Wang, Hui Ma, Xiaoxue Xu, Ping Zhou, Lu Kong
We have previously reported a heterogeneous expression pattern of the nuclear membrane protein lamin A/C in low- and high-Gleason score (GS) prostate cancer (PC) tissues, and we have now found that this change is not associated with LMNA mutations. This expression pattern appears to be similar to the process of epithelial to mesenchymal transition (EMT) or to that of mesenchymal to epithelial transition (MET). The role of lamin A/C in EMT or MET in PC remains unclear. Therefore, we first investigated the expression levels of and the associations between lamin A/C and several common EMT markers, such as E-cadherin, N-cadherin, β-catenin, snail, slug and vimentin in PC tissues with different GS values and in different cell lines with varying invasion abilities...
April 14, 2018: Gene
Martina Bonechi, Francesca Galardi, Chiara Biagioni, Francesca De Luca, Mattias Bergqvist, Magnus Neumüller, Cristina Guarducci, Giulia Boccalini, Stefano Gabellini, Ilenia Migliaccio, Angelo Di Leo, Marta Pestrin, Luca Malorni
The aim of this study was to investigate if thymidine kinase-1 (TK1), a well-known proliferation marker, could represent a valid circulating biomarker to identify hormone receptor positive (HR+)/HER2 negative (HER2neg) metastatic breast cancer (MBC) patients most likely to benefit from endocrine therapy (ET). We used the DiviTum™ assay to analyze TK1 activity in cell lysates of three HR+/HER2neg BC cell lines and in plasma of 31 HR+/HER2neg MBC patients receiving ET. Blood samples were collected at treatment initiation, after one month and at disease progression...
March 27, 2018: Oncotarget
Makiko Oguma, Mizuki Kobayashi, Masayo Yamazaki, Koji Yokoyama, Shuntaro Morikawa, Takeshi Yamaguchi, Takanori Yamagata, Toshihiro Tajima
Genetic defects in the immunoglobulin superfamily member 1(IGSF1) protein are the cause of congenital central hypothyroidism (C-CH). Here we report two Japanese siblings with C-CH due to a novel IGSF1 mutation. The youngest brother showed a failure to thrive, hypothermia, and neonatal icterus six days after birth. Further endocrine evaluations led to the diagnosis of C-CH. In addition, PRL deficiency was later detected. In contrast, the elder brother did not show symptoms of severe hypothyroidism during the neonatal period, but he had been followed up by doctors due to psychomotor developmental delays since the age of 1 yr...
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
Shane J Caldwell, Albert M Berghuis
APH(2")-Ia aminoglycoside resistance enzyme forms the C-terminal domain of the bifunctional AAC(6')-Ie/APH(2")-Ia enzyme and confers high-level resistance to natural 4,6-disubstituted aminoglycosides. In addition, reports have suggested that the enzyme can phosphorylate 4,5-disubstituted compounds and aminoglycosides with substitutions at the N1-position. Previously determined structures of the enzyme with aminoglycosides bound have not indicated how these non-canonical substrates could bind and be modified by the enzyme...
April 16, 2018: Antimicrobial Agents and Chemotherapy
Inga V Leus, Jon W Weeks, Vincent Bonifay, Lauren Smith, Sophie Richardson, Helen I Zgurskaya
Antibiotic resistant Acinetobacter baumannii causes infections that are extremely difficult to treat. A significant role in these resistance profiles is attributed to multidrug efflux pumps, especially those belonging to Resistance-Nodulation-cell Division (RND) superfamily of transporters. In this study, we analyzed functions and properties of RND efflux pumps in A. baumannii ATCC 17978. This strain is susceptible to antibiotics and does not contain mutations that are commonly selected upon exposure to high concentrations of antibiotics...
April 16, 2018: Journal of Bacteriology
M López Rodríguez
Fabry disease is an X-linked inborn disease caused by deficit of alpha-galactosidaseA. This results in accumulation of glycosphingolipids in all cells and tissues. All males should receive enzyme replacement treatment in case of very low or undetectable levels of alpha-galactosidaseA. Female carriers and males with marginally levels of alpha-galactosidaseA should be treated in case of renal, neurologic o cardiac manifestations. There are two intravenous formulations of human recombinant enzyme, agalsidase alpha and agalsidase beta, showing similar efficacy and safety...
April 13, 2018: Revista Clínica Española
Jingheng Wu, Wei Tian, Guanglei Tian, Kelli Sumner, Douglas T Hutchinson, Yuan Ji
Somatic PIK3CA mutations may relate to pathogenesis of isolated macrodactyly. We set up to test the association between PIK3CA mutations with isolated macrodactyly in order to establish a more accurate and molecular mechanism-based diagnosis and classification. DNA extracted from affected tissues in 12 individuals with isolated macrodactyly was tested for PIK3CA mutation using targeted Sanger DNA sequencing. Ten patients had macrodactyly in the foot and two in the hand. Nine of the 12 patients were found to carry a low-level, mosaic PIK3CA mutation...
January 1, 2018: Journal of Hand Surgery, European Volume
Alexis Desrichard, Fengshen Kuo, Diego Chowell, Ken-Wing Lee, Nadeem Riaz, Richard J Wong, Timothy A Chan, Luc G T Morris
Background: Tobacco smoking creates DNA damage, inducing mutations and potentially altering the tumor immune microenvironment. These types of genetic and immune microenvironment alterations are critical factors known to affect tumor response to immunotherapy. Here we analyze the association between the mutational signature of tobacco smoking, tumor mutational load, and metrics of immune activity in squamous cell carcinomas arising in the head and neck and lung. Methods: Using RNA and DNA sequencing data from The Cancer Genome Atlas head and neck (HNSC; n = 287) and lung (LUSC; n = 130) squamous cell carcinoma data sets and two independent gene expression data sets (HNSC, n = 136; LUSC, n = 75), we examined associations between the mutational smoking signature, mutation count, immune cell infiltration, cytolytic activity, and interferon-γ signaling...
April 11, 2018: Journal of the National Cancer Institute
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