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https://www.readbyqxmd.com/read/28931059/whole-genome-sequencing-of-mutants-with-increased-resistance-against-the-two-peptide-bacteriocin-plantaricin-jk-reveals-a-putative-receptor-and-potential-docking-site
#1
Bie Ekblad, Jon Nissen-Meyer, Tom Kristensen
By whole-genome sequencing of resistant mutants, a putative receptor for plantaricin JK, a two-peptide bacteriocin produced by some Lactobacillus plantarum strains, was identified in Lactobacillus plantarum NCFB 965 and Weissella viridescens NCFB 1655. The receptors of the two species had 66% identical amino acid sequences and belong to the amino acid-polyamine-organocation (APC) transporter protein family. The resistant mutants contained point mutations in the protein-encoding gene resulting in either premature stop codons, leading to truncated versions of the protein, or single amino acid substitutions...
2017: PloS One
https://www.readbyqxmd.com/read/28930567/molecular-mechanisms-of-chlamydia-trachomatis-resistance-to-antimicrobial-drugs
#2
Tomislav Mestrovic, Suncanica Ljubin-Sternak
Chlamydia trachomatis (C. trachomatis) is a leading cause of bacterial sexually transmitted infections in developed and undeveloped countries, and therefore a global public health issue. In an era of increasing bacterial resistance to antibiotics, resistance has been an exceedingly rare phenomenon in C. trachomatis; however, clinical treatment failures attributed to multidrug-resistant C. trachomatis strains have been described on several occasions. Cell culture systems using McCoy cells and subsequent immunofluorescent staining are still the most common methodology used for antimicrobial susceptibility testing, but the presence of resistance markers should be appraised by further genetic analysis...
January 1, 2018: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/28930454/chemical-bypass-of-general-base-catalysis-in-hedgehog-protein-cholesterolysis-using-a-hyper-nucleophilic-substrate
#3
Daniel Ciulla, Michael Jorgensen, Jose-Luis Giner, Brian P Callahan
Proteins in the hedgehog family undergo self-catalyzed endoproteolysis involving nucleophilic attack by a molecule of cholesterol. Recently, a conserved aspartate residue (D303, or D46) of hedgehog was identified as the general base that activates cholesterol during this unusual autoprocessing event; mutation of the catalyzing functional group (D303A) reduces activity by >104 fold. Here we report near total rescue of this ostensibly dead general base mutant by a synthetic substrate, 3ß-hydroperoxycholestane (3HPC) in which the sterol -OH group is replaced by the hyper nucleophilic -OOH group...
September 20, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/28929973/vermont-a-multi-perspective-visual-interactive-platform-for-mutational-analysis
#4
Alexandre V Fassio, Pedro M Martins, Samuel da S Guimarães, Sócrates S A Junior, Vagner S Ribeiro, Raquel C de Melo-Minardi, Sabrina de A Silveira
BACKGROUND: A huge amount of data about genomes and sequence variation is available and continues to grow on a large scale, which makes experimentally characterizing these mutations infeasible regarding disease association and effects on protein structure and function. Therefore, reliable computational approaches are needed to support the understanding of mutations and their impacts. Here, we present VERMONT 2.0, a visual interactive platform that combines sequence and structural parameters with interactive visualizations to make the impact of protein point mutations more understandable...
September 13, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/28929832/cngb3-mutations-cause-severe-rod-dysfunction
#5
J Maguire, M McKibbin, K Khan, S Kohl, M Ali, D McKeefry
PURPOSE: Congenital achromatopsia or rod monochromatism is a rare autosomal recessive condition defined by a severe loss of cone photoreceptor function in which rods purportedly retain normal or near-to-normal function. This report describes the results of electroretinography in two siblings with CNGB3-associated achromatopsia. METHODS: Full field light- and dark-adapted electroretinograms (ERGs) were recorded using standard protocols detailed by the International Society for Clinical Electrophysiology of Vision (ISCEV)...
September 20, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28929227/genetic-predisposition-in-children-with-cancer-affected-families-acceptance-of-trio-wes
#6
Triantafyllia Brozou, Julia Taeubner, Eunike Velleuer, Martin Dugas, Dagmar Wieczorek, Arndt Borkhardt, Michaela Kuhlen
A considerable percentage of childhood cancers are due to cancer predisposition syndromes (CPS). The ratio of CPSs caused by inherited versus de novo germline mutations and the risk of recurrence in other children are unknown. We initiated a prospective study performing whole-exome sequencing (WES) of parent-child trios in children newly diagnosed with cancer. We initially aimed to determine the interest in and acceptance of trio WES among affected families and to systematically collect demographic, medical, and family history data to analyze whether these point to an underlying CPS...
September 19, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28928363/an-autism-spectrum-disorder-related-de-novo-mutation-hotspot-discovered-in-the-gef1-domain-of-trio
#7
Anastasiia Sadybekov, Chen Tian, Cosimo Arnesano, Vsevolod Katritch, Bruce E Herring
The Rho guanine nucleotide exchange factor (RhoGEF) Trio promotes actin polymerization by directly activating the small GTPase Rac1. Recent studies suggest that autism spectrum disorder (ASD)-related behavioral phenotypes in animal models of ASD can be produced by dysregulation of Rac1's control of actin polymerization at glutamatergic synapses. Here, in humans, we discover a large cluster of ASD-related de novo mutations in Trio's Rac1 activating domain, GEF1. Our study reveals that these mutations produce either hypofunctional or hyperfunctional forms of Trio in rodent neurons in vitro...
September 19, 2017: Nature Communications
https://www.readbyqxmd.com/read/28928055/electrophysiological-analyses-of-transgenic-mice-overexpressing-kcnj8-with-s422l-mutation-in-cardiomyocytes
#8
Yasuhiro Watanabe, Akio Matsumoto, Takashi Miki, Susumu Seino, Naohiko Anzai, Haruaki Nakaya
Genetic analysis of KCNJ8 has pointed a mutation (S422L) as a susceptible link to J wave syndrome (JWS). In vitro expression study indicated that the ATP-sensitive K(+) (KATP) channel with the S422L mutation has the gain-of-function with reduced sensitivity to ATP. However, the electrophysiological impact of KCNJ8 has not been elucidated in vivo. Transgenic mouse strains overexpressing KCNJ8 S422L variant (TGmt) or WT (TGWT) in cardiomyocytes have been created to investigate the influence of KCNJ8 in cardiomyocytes and the JWS-related feature of the S422L variant on the cardiac electrophysiology...
September 6, 2017: Journal of Pharmacological Sciences
https://www.readbyqxmd.com/read/28928041/enhancing-crispr-cas9-mediated-homology-directed-repair-in-mammalian-cells-by-expressing-saccharomyces-cerevisiae-rad52
#9
Simin Shao, Chonghua Ren, Zhongtian Liu, Yichun Bai, Zhilong Chen, Zehui Wei, Xin Wang, Zhiying Zhang, Kun Xu
Precise genome editing with desired point mutations can be generated by CRISPR/Cas9-mediated homology-directed repair (HDR) and is of great significance for gene function study, gene therapy and animal breeding. However, HDR efficiency is inherently low and improvements are necessitated. Herein, we determined that the HDR efficiency could be enhanced by expressing Rad52, a gene that is involved in the homologous recombination process. Both the Rad52 co-expression and Rad52-Cas9 fusion strategies yielded approximately 3-fold increase in HDR during the surrogate reporter assays in human HEK293T cells, as well as in the genome editing assays...
September 16, 2017: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/28927774/chronic-intestinal-pseudo-obstruction-in-a-child-with-treacher-collins-syndrome
#10
E Giabicani, J Lemale, L Dainese, S Boudjemaa, A Coulomb, P Tounian, B Dubern
BACKGROUND: Treacher Collins syndrome (TCS) mainly presents with severe craniofacial developmental abnormalities characterized by a combination of bilateral downward-slanting palpebral fissures, colobomas of the lower eyelids, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. It is due to mutations in Treacher Collins syndrome 1 (TCOF1) (5q32-q33.1) and Polymerase RNA 1 polypeptides D and C (POLR1D [13q12...
September 15, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28926145/a-crispr-reimagining-new-twists-and-turns-of-crispr-beyond-the-genome-engineering-revolution
#11
Robert J Plummer, Yi Guo, Ying Peng
Despite its explosive applications in genome engineering, CRISPR (Clustered Regularly Interspersed Short Palindromic Repeats) has been developed into a versatile tool beyond its well-known nuclease function. In this prospect article, we summarize a few exciting "off-label" applications of CRISPR including manipulating DNA sequences, visualizing chromosomal loci in living cells, and modulating transcription and chromatin structures. These novel applications will likely elevate CRISPR tools into yet another level of sophistication and diversity, leading to many more exciting cell biological discoveries...
September 19, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28924058/localization-of-cdc7-protein-kinase-during-dna-replication-in-saccharomyces-cerevisiae
#12
Daniel Rossbach, D Suzi Bryan, Jay R Hesselberth, Robert Sclafani
DDK, a conserved serine-threonine protein kinase composed of a regulatory subunit, Dbf4, and a catalytic subunit, Cdc7, is essential for DNA replication initiation during S phase of the cell cycle through MCM2-7 helicase phosphorylation. The biological significance of DDK is well characterized, but the full mechanism of how DDK associates with substrates remains unclear. Cdc7 is bound to chromatin in the Saccharomyces cerevisiae genome throughout the cell cycle, but there is little empirical evidence as to specific Cdc7 binding locations...
September 18, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28923937/direct-engagement-of-the-pi3k-pathway-by-mutant-kit-dominates-oncogenic-signaling-in-gastrointestinal-stromal-tumor
#13
Benedikt Bosbach, Ferdinand Rossi, Yasemin Yozgat, Jennifer Loo, Jennifer Q Zhang, Georgina Berrozpe, Katherine Warpinski, Imke Ehlers, Darren Veach, Andrew Kwok, Katia Manova, Cristina R Antonescu, Ronald P DeMatteo, Peter Besmer
Gastrointestinal stromal tumors (GISTs) predominantly harbor activating mutations in the receptor tyrosine kinase KIT. To genetically dissect in vivo the requirement of different signal transduction pathways emanating from KIT for tumorigenesis, the oncogenic Kit(V558Δ) mutation was combined with point mutations abrogating specific phosphorylation sites on KIT. Compared with single-mutant Kit(V558Δ/+) mice, double-mutant Kit(V558Δ;Y567F/Y567F) knock-in mice lacking the SRC family kinase-binding site on KIT (pY567) exhibited attenuated MAPK signaling and tumor growth...
September 18, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28923933/longitudinal-identification-of-clinically-distinct-neurophenotypes-in-young-children-with-fragile-x-syndrome
#14
Jennifer L Bruno, David Romano, Paul Mazaika, Amy A Lightbody, Heather Cody Hazlett, Joseph Piven, Allan L Reiss
Fragile X syndrome (FXS), due to mutations of the FMR1 gene, is the most common known inherited cause of developmental disability. The cognitive, behavioral, and neurological phenotypes observed in affected individuals can vary considerably, making it difficult to predict outcomes and determine the need for interventions. We sought to examine early structural brain growth as a potential marker for identification of clinically meaningful subgroups. Participants included 42 very young boys with FXS who completed a T1-weighted anatomical MRI and cognitive/behavioral assessment at two longitudinal time points, with mean ages of 2...
September 18, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28923874/agar-based-screening-for-azole-resistance-in-aspergillus-fumigatus-using-vipcheck%C3%A2-a-single-centre-evaluation
#15
J B Buil, H A L van der Lee, A J M M Rijs, J Zoll, J A M F Hovestadt, W J G Melchers, P E Verweij
Introduction Antifungal susceptibility testing is an essential tool for guiding therapy, although EUCAST and CLSI reference methods are often only available in specialized centres. We studied the performance of an agar-based screening method for the detection of azole resistance in Aspergillus fumigatus cultures.Methods The VIPcheck™ consists of four wells containing voriconazole, itraconazole, posaconazole or a growth control. Ninety-six A. fumigatus isolates were used. Thirty-three isolates harboured a known resistance mechanism: TR34/L98H (11 isolates); TR46/Y121F/T289A (6 isolates); TR53 (2 isolates) and fourteen isolates with other cyp51A-gene point mutations...
September 18, 2017: Antimicrobial Agents and Chemotherapy
https://www.readbyqxmd.com/read/28923871/emergence-of-echinocandin-resistance-due-to-a-point-mutation-in-the-fks1-gene-of-aspergillus-fumigatus-in-a-patient-with-chronic-pulmonary-aspergillosis
#16
Cristina Jiménez-Ortigosa, Caroline Moore, David W Denning, David S Perlin
We have identified the first case of a fks1 hot spot 1 point mutation causing echinocandin resistance in a clinical Aspergillus fumigatus isolate recovered from a chronic pulmonary aspergillosis patient with an aspergilloma who first failed azole and polyene therapy, and then subsequently failed micafungin treatment.
September 18, 2017: Antimicrobial Agents and Chemotherapy
https://www.readbyqxmd.com/read/28923850/increasing-the-un-neddylated-cullin1-portion-rescues-the-csn-phenotypes-by-stabilizing-adaptor-modules-to-drive-scf-assembly
#17
Qingqing Liu, Yike Zhou, Ruiqi Tang, Xuehong Wang, Qiwen Hu, Ying Wang, Qun He
The dynamic SCF assembly is controlled by cycles of cullin neddylation/deneddylation based on the deneddylation activity of the COP9 signalosome (CSN) and global sequestration of cullins by CAND1. However, this prediction is hampered in recent studies, and the regulatory mechanism and key players remain to be identified. We found that, maintaining a proper Cul1(Nedd8)/Cul1 ratio is crucial to ensure SCF functions. Reducing the high Cul1(Nedd8)/Cul1 ratios in csn mutants through ectopic expression of the non-neddylatable Cul1(K722R) proteins or introducing the endogenous cul1(K722R) point mutation significantly rescues their defective phenotypes...
September 18, 2017: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/28923663/modulation-of-the-picosecond-dynamics-of-troponin-by-the-cardiomyopathy-causing-mutation-k247r-of-troponin-t-observed-by-quasielastic-neutron-scattering
#18
Tatsuhito Matsuo, Taiki Tominaga, Fumiaki Kono, Kaoru Shibata, Satoru Fujiwara
Troponin (Tn), consisting of three subunits (TnC, TnI, and TnT), regulates cardiac muscle contraction in a Ca(2+)-dependent manner. Various point mutations of human cardiac Tn are known to cause familial hypertrophic cardiomyopathy due to aberration of the regulatory function. In this study, we investigated the effects of one of these mutations, K247R of TnT, on the picosecond dynamics of the Tn core domain (Tn-CD), consisting of TnC, TnI and TnT2 (183-288 residues of TnT), by carrying out the quasielastic neutron scattering measurements on the reconstituted Tn-CD containing either the wild-type TnT2 (wtTn-CD) or the mutant TnT2 (K247R-Tn-CD) in the absence and presence of Ca(2+)...
September 15, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28923573/neoadjuvant-buparlisib-plus-trastuzumab-and-paclitaxel-for-women-with-her2-primary-breast-cancer-a-randomised-double-blind-placebo-controlled-phase-ii-trial-neophoebe
#19
Sibylle Loibl, Lorena de la Pena, Valentina Nekljudova, Dimitrios Zardavas, Stefan Michiels, Carsten Denkert, Mahdi Rezai, Begoña Bermejo, Michael Untch, Soo Chin Lee, Sabine Turri, Patrick Urban, Sherko Kümmel, Guenther Steger, Andrea Gombos, Michael Lux, Martine J Piccart, Gunter Von Minckwitz, José Baselga, Sherene Loi
AIM: The Neoadjuvant PI3K inhibition in HER2 OverExpressing Breast cancEr (NeoPHOEBE) trial evaluated the efficacy and safety of buparlisib, a pan-phosphatidylinositol 3-kinase (PI3K) inhibitor, plus trastuzumab and paclitaxel as neoadjuvant treatment for human epidermal growth factor receptor-2 positive (HER2+) breast cancer. METHODS: NeoPHOEBE was a neoadjuvant, phase II, randomised, double-blind study. Women with HER2+ breast cancer were randomised within two independent cohorts by PIK3CA mutation status and, in each cohort stratified by oestrogen receptor (ER) status to receive buparlisib or placebo plus trastuzumab (first 6 weeks) followed by buparlisib or placebo with trastuzumab and paclitaxel...
September 15, 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/28922761/rapid-mapping-and-cloning-of-the-virescent-1-gene-in-cotton-by-bulked-segregant-analysis-next-generation-sequencing-and-virus-induced-gene-silencing-strategies
#20
Jiankun Zhu, Jiedan Chen, Fengkai Gao, Chenyu Xu, Huaitong Wu, Kun Chen, Zhanfeng Si, Hu Yan, Tianzhen Zhang
Map-based gene cloning is a vital strategy for the identification of the quantitative trait loci or genes underlying important agronomic traits. The conventional map-based cloning method is powerful but generally time-consuming and labor-intensive. In this context, we introduce an improved bulked segregant analysis method in combination with a virus-induced gene silencing (VIGS) strategy for rapid and reliable gene mapping, identification and functional verification. This method was applied to a multiple recessive marker line of upland cotton, Texas 582 (T582), and identified unique genomic positions harboring mutant loci, showing the reliability and efficacy of this method...
July 10, 2017: Journal of Experimental Botany
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