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https://www.readbyqxmd.com/read/29471552/novel-gch1-compound-heterozygosity-mutation-in-infancy-onset-generalized-dystonia
#1
Marina Flotats-Bastardas, Eva Hebert, Miquel Raspall-Chaure, Francina Munell, Alfons Macaya, Katja Lohmann
No abstract text is available yet for this article.
February 22, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29471550/phenotype-genotype-correlation-in-children-with-neurofibromatosis-type-1
#2
Christophe Barrea, Sandrine Vaessen, Saskia Bulk, Julie Harvengt, Jean-Paul Misson
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder with an incidence of ∼1 in 4,000 live births. Neurofibromin, the gene product, is ubiquitously expressed at high levels in the nervous system and functions as a tumor suppressor. Haploinsufficiency of neurofibromin through mutation leads to an increased risk of developing benign and malignant tumors in affected individuals. Although NF1 has complete penetrance, it displays considerable inter- and intrafamilial variability in phenotypic expression which poses disease prediction and management problems...
February 22, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29471527/the-heterogeneity-between-lynch-associated-and-sporadic-mmr-deficiency-in-colorectal-cancers
#3
Guo-Chen Liu, Ran-Yi Liu, Jun-Ping Yan, Xin An, Wu Jiang, Yi-Hong Ling, Jie-Wei Chen, Jin-Xin Bei, Xiao-Yu Zuo, Mu-Yan Cai, Ze-Xian Liu, Zhi-Xiang Zuo, Ji-Hong Liu, Zhi-Zhong Pan, Pei-Rong Ding
Background: Previous studies demonstrated that prognosis of germline deficiency in mismatch repair protein (dMMR) was different from that of sporadic dMMR. The underlying mechanism has not been studied. Methods: From a prospectively maintained database, we collected dMMR colorectal cancer (CRC) patients identified by postoperative immunohistochemistry screening. According to genetic test, patients were grouped as Lynch-associated or sporadic dMMR. We compared the clinical-pathological features, prognosis, and immunoreactive differences between the two groups...
February 20, 2018: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/29471517/the-role-of-the-ground-glass-opacity-ratio-in-resected-lung-adenocarcinoma
#4
Tsai-Wang Huang, Kuan-Hsun Lin, Hsu-Kai Huang, Yi-I Chen, Kai-Hsiung Ko, Cheng-Kuang Chang, Hsian-He Hsu, Hung Chang, Shih-Chun Lee
OBJECTIVES: The goal of this study was to investigate the role of the ground-glass opacity (GGO) ratio in lung adenocarcinoma in predicting surgical outcomes. METHODS: Patients who underwent surgical resection for pulmonary adenocarcinoma between January 2004 and December 2013 were reviewed. The clinical data, imaging characteristics of nodules, surgical approaches and outcomes were analysed with a mean follow-up of 87 months. RESULTS: Of 789 enrolled patients, 267 cases were categorized as having a GGO ratio ≥0...
February 19, 2018: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/29471495/arginine-methylation-of-the-c-terminus-rgg-motif-promotes-top3b-topoisomerase-activity-and-stress-granule-localization
#5
Lifeng Huang, Zhihao Wang, Nithya Narayanan, Yanzhong Yang
DNA topoisomerase 3B (TOP3B) is unique among all mammalian topoisomerases for its dual activities that resolve both DNA and RNA topological entanglements to facilitate transcription and translation. However, the mechanism by which TOP3B activity is regulated is still elusive. Here, we have identified arginine methylation as an important post-translational modification (PTM) for TOP3B activity. Protein arginine methyltransferase (PRMT) 1, PRMT3 and PRMT6 all methylate TOP3B in vitro at its C-terminal arginine (R) and glycine (G)-rich motif...
February 19, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29471486/selection-of-hyperproduction-of-ampc-and-sme-1-in-a-carbapenem-resistant-serratia-marcescens-isolate-during-antibiotic-therapy
#6
Peera Hemarajata, Thomas Amick, Shangxin Yang, Aric Gregson, Cameron Holzmeyer, Karen Bush, Romney M Humphries
Objectives: Antibiotic selective pressure may result in changes to antimicrobial susceptibility throughout the course of infection, especially for organisms that harbour chromosomally encoded AmpC β-lactamases, notably Enterobacter spp., in which hyperexpression of ampC may be induced following treatment with cephalosporins. In this study, we document a case of bacteraemia caused by a blaSME-1-harbouring Serratia marcescens that subsequently developed resistance to expanded-spectrum cephalosporins, piperacillin/tazobactam and fluoroquinolones, over the course of several months of treatment with piperacillin/tazobactam and ciprofloxacin...
February 19, 2018: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/29471464/poor-immunogenicity-not-vaccine-strain-egg-adaptation-may-explain-the-low-h3n2-influenza-vaccine-effectiveness-in-2012-13
#7
Sarah Cobey, Sigrid Gouma, Kaela Parkhouse, Benjamin S Chambers, Hildegund C Ertl, Kenneth E Schmader, Rebecca A Halpin, Xudong Lin, Timothy B Stockwell, Suman R Das, Emily Landon, Vera Tesic, Ilan Youngster, Benjamin A Pinsky, David E Wentworth, Scott E Hensley, Yonatan H Grad
Background: Influenza vaccination aims to prevent infection by influenza virus and reduce associated morbidity and mortality; however, vaccine effectiveness (VE) can be modest, especially for subtype A(H3N2). Low VE has been attributed to mismatches between the vaccine and circulating influenza strains and to the vaccine's elicitation of protective immunity in only a subset of the population. The low H3N2 VE in the 2012-2013 season was attributed to egg-adaptive mutations that created antigenic mismatch between the actual vaccine strain (IVR-165) and both the intended vaccine strain (A/Victoria/361/2011) and the predominant circulating strains (clades 3C...
February 20, 2018: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/29471425/foxl2c134w-induced-cyp19-expression-via-cooperation-with-smad3-in-hgrc1-cells
#8
Martina Belli, Nahoko Iwata, Tomoko Nakamura, Akira Iwase, Dwayne Stupack, Shunichi Shimasaki
Germline knockout studies in female mice demonstrated an essential role for FOXL2 in early follicle development, while an inducible granulosa cell (GC) specific deletion of Foxl2 in adults has shown ovary-to-testis somatic sex reprogramming. In women, over 120 different germline mutations in the FOXL2 gene have been shown to cause blepharophimosis/ptosis/epicantus inversus syndrome associated with or without primary ovarian insufficiency. By contrast, a single somatic mutation (FOXL2C134W) accounts for almost all adult-type GC tumors (aGCTs)...
February 19, 2018: Endocrinology
https://www.readbyqxmd.com/read/29471294/novel-familial-variant-of-the-desert-hedgehog-gene-clinical-findings-in-two-sisters-with-46-xy-gonadal-dysgenesis-or-46-xx-karyotype-and-literature-review
#9
Fulvia Baldinotti, Tiziana Cavallaro, Eleonora Dati, Giampiero I Baroncelli, Veronica Bertini, Angelo Valetto, Francesco Massart, Gian Maria Fabrizi, Giampietro Zanette, Diego Peroni, Silvano Bertelloni
BACKGROUND: In humans, Desert Hedgehog (DHH) gene mutations are a very rare cause of 46,XY gonadal dysgenesis (GD), eventually associated with peripheral neuropathy. PATIENTS AND METHODS: Clinical records of 12 patients with 46,XY GD and unknown genetic background were reviewed and a 46,XY woman with peripheral neuropathy was individuated. Her 46,XX sister affected by similar neuropathy was also investigated. Genomic DNA was extracted and DHH exons sequenced and analyzed...
February 22, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29471265/role-of-rpos-in-stress-resistance-quorum-sensing-and-spoilage-potential-of-pseudomonas-fluorescens
#10
Xiaoxiang Liu, Lei Ji, Xu Wang, Jianrong Li, Junli Zhu, Aihua Sun
Microorganism activities are considered the main cause of most food spoilage, leading to great economic losses. Pseudomonas fluorescens is a Gram-negative bacterium that is widely found in food and has high spoilage activity. RpoS is considered an important global regulator involved in stress survival and virulence in many pathogens. Thus, it is very possible that RpoS plays an important role in spoilage regulation in P. fluorescens. In this study an in-frame deletion mutation of rpoS was constructed to explore its function in P...
February 14, 2018: International Journal of Food Microbiology
https://www.readbyqxmd.com/read/29471115/targeted-next-generation-sequencing-is-a-sensitive-tool-for-differential-diagnosis-of-myelodysplastic-syndromes-in-bone-marrow-trephines
#11
Andreas Bräuninger, Wolfgang Blau, Kristin Kunze, Ann-Kathrin Desch, Alexander Brobeil, Mehmet Kemal Tur, Benjamin Etschmann, Ulrich Günther, Dieter Körholz, Georg Schliesser, Andreas Käbisch, Michael Kiehl, Mathias Rummel, Stefan Gattenlöhner
Myelodysplastic syndromes are hematological neoplasias in which immunohistological examination of bone-marrow trephines is important for a definite diagnosis. Unequivocal distinction from reactive bone-marrow changes is, however, sometimes difficult. As neoplastic clones in myelodysplastic syndrome carry mutations in recurrent genes, mutation detection by targeted next-generation sequencing may be a useful support for differential diagnosis. To elucidate the accuracy of this approach in the clinical diagnostic setting, we analyzed single and consecutive bone-marrow trephines processed for immunohistological examination from 145 patients by targeted next-generation sequencing of 12 genes recurrently mutated in myelodysplastic syndromes...
February 19, 2018: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/29471062/constitutive-stimulatory-g-protein-activity-in-limb-mesenchyme-impairs-bone-growth
#12
Anara Karaca, Vijayram Reddy Malladi, Yan Zu, Olta Tafaj, Elena Paltrinieri, Joy Y Wu, Qing He, Murat Bastepe
GNAS mutations leading to constitutively active stimulatory G protein alpha-subunit (Gsα) cause different tumors, fibrous dysplasia of bone, and McCune-Albright syndrome, which are typically not associated with short stature. Enhanced signaling of the parathyroid hormone/parathyroid hormone-related peptide receptor, which couples to multiple G proteins including Gsα, leads to short bones with delayed endochondral ossification. It has remained unknown whether constitutive Gsα activity also impairs bone growth...
February 19, 2018: Bone
https://www.readbyqxmd.com/read/29471051/an-analysis-of-two-open-reading-frames-orf3-and-orf4-of-rat-hepatitis-e-virus-genome-using-its-infectious-cdna-clones-with-mutations-in-orf3-or-orf4
#13
Tanggis, Tominari Kobayashi, Masaharu Takahashi, Suljid Jirintai, Tsutomu Nishizawa, Shigeo Nagashima, Takashi Nishiyama, Satoshi Kunita, Emiko Hayama, Takeshi Tanaka, Mulyanto, Hiroaki Okamoto
Rat hepatitis E virus (ratHEV) genome has four open reading frames (ORFs: ORF1, ORF2, ORF3 and ORF4). The functions of ORF3 and ORF4 are unknown. An infectious cDNA clone (pUC-ratELOMB-131L_wt, wt) and its derivatives including ORF3-defective (ΔORF3) and ORF4-defective (ΔORF4) mutants, were constructed and their full-length RNA transcripts transfected into PLC/PRF/5 cells. ΔORF3 replicated as efficiently as wt in cells. However, ≤1/1,000 of the number of progenies were detectable in the culture supernatant of ΔORF3-infected cells compared with wt-infected cells...
February 19, 2018: Virus Research
https://www.readbyqxmd.com/read/29471047/a-urinary-biosignature-for-mitochondrial-myopathy-encephalopathy-lactic-acidosis-and-stroke-like-episodes-melas
#14
Karien Esterhuizen, J Zander Lindeque, Shayne Mason, Francois H van der Westhuizen, Anu Suomalainen, Anna H Hakonen, Christopher J Carroll, Richard J Rodenburg, Paul B de Laat, Mirian C H Janssen, Jan A M Smeitink, Roan Louw
We used a comprehensive metabolomics approach to study the altered urinary metabolome of two mitochondrial myopathy, encephalopathy lactic acidosis and stroke like episodes (MELAS) cohorts carrying the m.3243A>G mutation. The first cohort were used in an exploratory phase, identifying 36 metabolites that were significantly perturbed by the disease. During the second phase, the 36 selected metabolites were able to separate a validation cohort of MELAS patients completely from their respective control group, suggesting usefulness of these 36 markers as a diagnostic set...
February 19, 2018: Mitochondrion
https://www.readbyqxmd.com/read/29471036/enos-s-nitrosylation-mediated-oxldl-induced-endothelial-dysfunction-via-increasing-the-interaction-of-enos-with-%C3%AE-catenin
#15
Wan Wang, Dan Wang, Chuiyu Kong, Shuangyue Li, Liping Xie, Zhe Lin, Yuan Zheng, Jianli Zhou, Yi Han, Yong Ji
Protein S-nitrosylation plays an important role in the progression of cardiovascular diseases. eNOS can be S-nitrosylated in endothelial cells, and this modification reversibly attenuates enzyme activity. Under physiological conditions, eNOS directly interacts with β-catenin. However, whether and how eNOS S-nitrosylation regulates the β-catenin signal pathway and participates in endothelial dysfunction remains unknown. Here, we show that OxLDL induces the S-nitrosylation of eNOS, which enhances the interaction between eNOS and β-catenin, transcriptional activity of β-catenin, cell migration and adhesion molecule expression in endothelial cells...
February 19, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29470990/lis1-dysfunction-leads-to-traction-force-reduction-and-cytoskeletal-disorganization-during-cell-migration
#16
Guo-Wei Jheng, Sung Sik Hur, Chia-Ming Chang, Chun-Chieh Wu, Jia-Shing Cheng, Hsiao-Hui Lee, Bon-Chu Chung, Yang-Kao Wang, Keng-Hui Lin, Juan C Del Álamo, Shu Chien, Jin-Wu Tsai
Cell migration is a critical process during development, tissue repair, and cancer metastasis. It requires complex processes of cell adhesion, cytoskeletal dynamics, and force generation. Lis1 plays an important role in the migration of neurons, fibroblasts and other cell types, and is essential for normal development of the cerebral cortex. Mutations in human LIS1 gene cause classical lissencephaly (smooth brain), resulting from defects in neuronal migration. However, how Lis1 may affect force generation in migrating cells is still not fully understood...
February 19, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29470984/ribosome-biogenesis-protein-urb2-regulates-hematopoietic-stem-cells-development-via-p53-pathway-in-zebrafish
#17
Pengcheng Cai, Xiaoyu Mao, Jieqiong Zhao, Lingfei Luo
Ribosome biogenesis is a significant process in cells. Dysfunction in this process will result in the defects of protein synthesis and consequently cause the development of specific diseases called ribosomopathies. Mutations in ribosome biogenesis protein Rps19, Rpl5, or Rpl11 can lead to hematopoietic defects in human, thus triggering the disease Diamond Blackfan anemia. However, the regulatory mechanisms of ribosome biogenesis in hematopoiesis remain incompletely understood. In this study, we describe a zebrafish mutant cq42, which carries a nonsense mutation in the gene that encodes ribosome biogenesis 2 homolog (Urb2)...
February 19, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29470955/pi3k-regulates-intraepithelial-cell-positioning-through-rho-gtp-ases-in-the-developing-neural-tube
#18
Blanca Torroba, Antonio Herrera, Anghara Menendez, Sebastian Pons
Phosphatidylinositol 3-kinases (PI3Ks) are signal transducers of many biological processes. Class 1A PI3Ks are hetero dimers formed by a regulatory and a catalytic subunit. We have used the developing chicken neural tube (NT) to study the roles played by PI3K during the process of cell proliferation and differentiation. Notably, we have observed that in addition to its well characterized anti apoptotic activity, PI3K also plays a crucial role in intra epithelial cell positioning, and unlike its role in survival that mainly depends on AKT, the activity in cell positioning is mediated by Rho GTPase family members...
February 19, 2018: Developmental Biology
https://www.readbyqxmd.com/read/29470920/long-term-microevolution-of-pseudomonas-aeruginosa-differs-between-mildly-and-severely-affected-cystic-fibrosis-lungs
#19
Jens Klockgether, Nina Cramer, Sebastian Fischer, Lutz Wiehlmann, Burkhard Tümmler
RATIONALE: The chronic airway infections with Pseudomonas aeruginosa determine morbidity in most individuals with cystic fibrosis (CF). P. aeruginosa may persist for decades in CF lungs which provides the rare opportunity to study the long-term within-host evolution of a bacterial airway pathogen. OBJECTIVES: To resolve the genetic adaptation of P. aeruginosa in CF lungs from the onset of colonization until the patient's death or permanent replacement by another P...
February 22, 2018: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/29470858/genes-affecting-progression-of-bacteriophage-p22-infection-in-salmonella-identified-by-transposon-and-single-gene-deletion-screens
#20
Kaitlynne Bohm, Steffen Porwollik, Weiping Chu, John A Dover, Eddie B Gilcrease, Sherwood R Casjens, Michael McClelland, Kristin N Parent
Bacteriophages rely on their hosts for replication, and many host genes critically determine either viral progeny production or host success via phage resistance. A random insertion transposon library of 240,000 mutants in Salmonella enterica serovar Typhimurium was used to monitor effects of individual bacterial gene disruptions on bacteriophage P22 lytic infection. These experiments revealed candidate host genes that alter the timing of phage P22 propagation. Using a False Discovery Rate of <0.1, mutations in 235 host genes either blocked or delayed progression of P22 lytic infection, including many genes for which this role was previously unknown...
February 22, 2018: Molecular Microbiology
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