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https://www.readbyqxmd.com/read/28324749/a-phase-i-study-of-sar405838-a-novel-human-double-minute-2-hdm2-antagonist-in-patients-with-solid-tumours
#1
Maja de Jonge, Vincent A de Weger, Mark A Dickson, Marlies Langenberg, Axel Le Cesne, Andrew J Wagner, Karl Hsu, Wei Zheng, Sandrine Macé, Gilles Tuffal, Koruth Thomas, Jan H M Schellens
PURPOSE: In tumours with wild-type TP53, the tumour-suppressive function of p53 is frequently inhibited by HDM2. This phase I, dose-escalating study investigated the maximum tolerated dose (MTD), safety, pharmacokinetics and pharmacodynamics of SAR405838, an HDM2 inhibitor, in patients with advanced solid tumours (NCT01636479). METHODS: In dose escalation, patients with any locally advanced/metastatic solid tumour with TP53 mutation prevalence below 40%, or documented as TP53 wild-type, were eligible...
March 16, 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/28324114/novel-25-kb-deletion-of-mertk-causes-retinitis-pigmentosa-with-severe-progression
#2
Daniel R Evans, Jane S Green, Gordon J Johnson, Jeremy Schwartzentruber, Jacek Majewski, Chandree L Beaulieu, Wen Qin, Christian R Marshall, Tara A Paton, Nicole M Roslin, Andrew D Paterson, Somayyeh Fahiminiya, Justin French, Kym M Boycott, Michael O Woods
Purpose: Retinitis pigmentosa (RP) describes a complex group of inherited retinal dystrophies with almost 300 reported genes and loci. We investigated the genetic etiology of autosomal recessive RP (arRP) in a large kindred with 5 affected family members, who reside on the island of Newfoundland, Canada. Methods: Genetic linkage analysis was performed on 12 family members (Infinium HumanOmni2.5-8 BeadChip). Whole exome sequencing analysis (Illumina HiSeq) was performed on one affected individual...
March 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28324013/acute-parathyroid-hormone-injection-increases-c-terminal-but-not-intact-fibroblast-growth-factor-23-levels
#3
V M Knab, B Corbin, O Andrukhova, J M Hum, P Ni, S Rabadi, A Maeda, K E White, R G Erben, H Jüppner, M Christov
The acute effects of PTH on FGF23 in vivo are not well understood. After a single s.c. PTH(1-34) injection (50nmol/kg) in mice, FGF23 levels were assessed in plasma using assays that measure either intact alone (iFGF23) or intact/C-terminal FGF23 (cFGF23). Furthermore, FGF23 mRNA and protein levels were assessed in bone. In addition, we examined the effects of PTH treatment on FGF23 production in vitro using differentiated calvarial osteocyte-like cells. cFGF23 levels increased by 3-5-fold within two hours following PTH injection, which returned to baseline by 4 hours...
January 23, 2017: Endocrinology
https://www.readbyqxmd.com/read/28323963/an-antibody-to-notch2-reverses-the-osteopenic-phenotype-of-hajdu-cheney-mutant-male-mice
#4
Ernesto Canalis, Archana Sanjay, Jungeun Yu, Stefano Zanotti
Notch receptors play a central role in skeletal development and bone remodeling. Hajdu Cheney Syndrome (HCS), a disease characterized by osteoporosis and fractures, is associated with gain-of-NOTCH2 function mutations. To study HCS, we created a mouse model harboring a point 6955C>T mutation in the Notch2 locus upstream of the proline (P), glutamic acid (E), serine (S) and threonine (T) domain leading to a Q2319X change at the amino acid level. Notch2Q2319X heterozygous mutants exhibited cancellous and cortical bone osteopenia...
January 31, 2017: Endocrinology
https://www.readbyqxmd.com/read/28319863/binding-affinity-and-adhesion-force-of-organophosphate-hydrolase-enzyme-with-soil-particles-related-to-the-isoelectric-point-of-the-enzyme
#5
Shah Md Asraful Islam, Shabina Yeasmin, Md Saiful Islam, Md Shariful Islam
The binding affinity of organophosphate hydrolase enzyme (OphB) with soil particles in relation to the isoelectric point (pI) was studied. Immobilization of OphB with soil particles was observed by confocal microscopy, Fourier transform infrared spectroscopy (FT-IR), and Atomic force microscopy (AFM). The calculated pI of OphB enzyme was increased from 8.69 to 8.89, 9.04 and 9.16 by the single, double and triple mutant of OphB enzyme, respectively through the replacement of negatively charged aspartate with positively charged histidine...
March 16, 2017: Ecotoxicology and Environmental Safety
https://www.readbyqxmd.com/read/28319449/non-clinical-study-examining-aav8-tbg-hldlr-vector-associated-toxicity-in-chow-fed-wild-type-and-ldlr-rhesus-macaques
#6
Jenny A Greig, Maria P Limberis, Peter Bell, Shu-Jen Chen, Roberto Calcedo, Daniel J Rader, James M Wilson
Vectors based on adeno-associated virus serotype 8 (AAV8) have been evaluated in several clinical trials of gene therapy for hemophilia B with encouraging results. In preparation for a Phase 1 clinical trial of AAV8 gene therapy for the treatment of homozygous familial hypercholesterolemia (HoFH), the safety of the clinical candidate vector, AAV8.TBG.hLDLR, was evaluated in wild-type rhesus macaques and macaques heterozygous for a nonsense mutation in the low-density lipoprotein receptor (LDLR) gene (LDLR(+/-))...
March 2017: Human Gene Therapy. Clinical Development
https://www.readbyqxmd.com/read/28318592/caprine-and-ovine-greek-dairy-products-the-official-german-method-generates-false-positive-results-due-to-%C3%AE%C2%BA-casein-gene-polymorphism
#7
V Tsartsianidou, D Triantafillidou, N Karaiskou, P Tarantili, G Triantafillidis, E Georgakis, A Triantafyllidis
Caseins are widely used for species identification of dairy products. Isoelectric focusing (IEF) of para-κ-casein peptide is used as the official German method for the differentiation between caprine (isoform A) and ovine (isoform B) dairy products, based on their different isoelectric points. The discrimination between Greek goat and ewe dairy products using IEF has, however, been shown to be problematic because of the existence of the ewe isoform in milk from Greek indigenous dairy goats. This could be due to nucleotide polymorphisms within the goat κ-casein gene of Greek indigenous breeds, which alter the isoelectric point of the para-κ-casein peptide and lead to false positive results...
March 16, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28318107/the-amplitude-of-coagulation-curves-from-thrombin-time-tests-allows-dysfibrinogenemia-caused-by-the-common-mutation-fgg-arg301-to-be-distinguished-from-hypofibrinogenemia
#8
M Jacquemin, I Vanlinthout, I Van Horenbeeck, M Debasse, J Toelen, J Schoeters, R Lavend'homme, K Freson, K Peerlinck
INTRODUCTION: Thrombin time (TT) tests are useful for diagnosing coagulation disorders involving abnormal fibrinogen but do not allow us to distinguish between qualitative and quantitative defects. However, with the widening availability of optical coagulation automates, more information about the coagulation process is becoming increasingly accessible. METHODS: In this study, we compared the coagulation curves of TT tests carried out with plasma from healthy donors with those from patients with acquired low Clauss fibrinogen levels or with dysfibrinogenemia caused by a heterozygous point mutation in the fibrinogen γ-chain that results in a p...
March 20, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28317250/epsps-gene-amplification-conferring-resistance-to-glyphosate-in-windmill-grass-chloris-truncata-in-australia
#9
The D Ngo, Jenna M Malone, Peter Boutsalis, Gurjeet Gill, Christopher Preston
BACKGROUND: Five glyphosate resistant populations of Chloris truncata originally collected from New South Wales were compared to one susceptible (S) population from South Australia, Australia to confirm glyphosate resistance and elucidate possible mechanisms of resistance. RESULTS: Based on the amounts of glyphosate required to kill 50% of treated plants (LD50 ), glyphosate resistance (GR) was confirmed in five populations of C. truncata (A536, A528, T27, A534 and A535...
March 20, 2017: Pest Management Science
https://www.readbyqxmd.com/read/28317092/serpinc1-gene-mutations-in-antithrombin-deficiency
#10
René Mulder, F Nanne Croles, André B Mulder, James A Huntington, Karina Meijer, Michaël V Lukens
Existing evidence suggests that in most cases antithrombin deficiency can be explained by mutations in its gene, SERPINC1. We investigated the molecular background of antithrombin deficiency in a single centre family cohort study. We included a total of 21 families comprising 15 original probands and sixty-six relatives, 6 of who were surrogate probands for the genetic analysis. Antithrombin activity and antigen levels were measured. The heparin-antithrombin binding ratio assay was used to distinguish between the different subtypes of type II antithrombin deficiency...
March 20, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28317032/first-report-of-the-east-african-kdr-mutation-in-an-anopheles-gambiae-mosquito-in-c%C3%A3-te-d-ivoire
#11
Mouhamadou Chouaïbou, Fodjo Behi Kouadio, Emmanuel Tia, Luc Djogbenou
Background. The intensive use of insecticides in public health and agriculture has led to the development of insecticide resistances in malaria vectors across sub-Saharan Africa countries in the last two decades. The kdr target site point mutation which is among the best characterised resistance mechanisms seems to be changing its distribution patterns on the African continent. The 1014F  kdr mutation originally described only in West Africa is spreading to East Africa while the 1014S  kdr mutation originally described in East Africa, is spreading to West and Central Africa...
February 9, 2017: Wellcome Open Res
https://www.readbyqxmd.com/read/28315399/truncating-titin-ttn-variants-in-chemotherapy-induced-cardiomyopathy
#12
M Linschoten, A J Teske, A F Baas, A Vink, D Dooijes, H F Baars, F W Asselbergs
Chemotherapy-induced cardiomyopathy (CCMP) is a complication of chemotherapy treatment occurring in 9% of patients treated with anthracyclines. Currently, risk stratification is based on clinical risk factors that do not adequately explain the variable individual susceptibility. This points towards the presence of other determinants. In this case series, we describe two women with breast cancer that developed severe heart failure within months after chemotherapy. Genetic screening revealed truncating frameshift mutations in TTN, encoding the myofilament titin, in both women...
March 14, 2017: Journal of Cardiac Failure
https://www.readbyqxmd.com/read/28315275/sigma-1-receptor-in-motoneuron-disease
#13
Renzo Mancuso, Xavier Navarro
Amyotrophic Lateral Sclerosis (ALS ) is a neurodegenerative disease affecting spinal cord and brain motoneurons , leading to paralysis and early death. Multiple etiopathogenic mechanisms appear to contribute in the development of ALS , including glutamate excitotoxicity, oxidative stress , protein misfolding, mitochondrial defects, impaired axonal transport, inflammation and glial cell alterations. The Sigma-1 receptor is highly expressed in motoneurons of the spinal cord, particularly enriched in the endoplasmic reticulum (ER) at postsynaptic cisternae of cholinergic C-terminals...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28314816/characterization-of-a-human-point-mutation-of-vglut3-p-a211v-in-the-rodent-brain-suggests-a-non-uniform-distribution-of-the-transporter-in-synaptic-vesicles
#14
Lauriane Ramet, Johannes Zimmermann, Tiphaine Bersot, Odile Poirel, Stéphanie De Gois, Katlin Silm, Diana Yae Sakae, Nina Mansouri-Guilani, Marie-Josée Bourque, Louis-Eric Trudeau, Nicolas Pietrancosta, Stéphanie Daumas, Véronique Bernard, Christian Rosenmund, Salah El Mestikawy
The atypical vesicular glutamate transporter type 3 (VGLUT3) is expressed by sub-populations of neurons using acetylcholine, GABA or serotonin as neurotransmitters. In addition, VGLUT3 is expressed in the inner hair cells of the auditory system. A mutation (p.A211V) in the gene that encodes VGLUT3 is responsible for progressive deafness in two unrelated families. In this study, we investigated the consequences of the p.A211V mutation in cell cultures and in the central nervous system (CNS) of a mutant mouse...
March 17, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28306137/empirical-phylogenies-and-species-abundance-distributions-are-consistent-with-pre-equilibrium-dynamics-of-neutral-community-models-with-gene-flow
#15
Anne-Sophie Bonnet-Lebrun, Andrea Manica, Anders Eriksson, Ana S L Rodrigues
Community characteristics reflect past ecological and evolutionary dynamics. Here, we investigate whether it is possible to obtain realistically shaped modelled communities - i.e., with phylogenetic trees and species abundance distributions shaped similarly to typical empirical bird and mammal communities - from neutral community models. To test the effect of gene flow, we contrasted two spatially explicit individual-based neutral models: one with protracted speciation, delayed by gene flow, and one with point mutation speciation, unaffected by gene flow...
March 17, 2017: Evolution; International Journal of Organic Evolution
https://www.readbyqxmd.com/read/28304234/antimutagenic-evaluation-of-traditional-medicinal-plants-from-south-america-peumus-boldus-and-cryptocarya-alba-using-drosophila-melanogaster
#16
Erico R Carmona, Marjorie Reyes-Díaz, Jorge Parodi, Claudio Inostroza-Blancheteau
Peumus boldus Mol. ("Boldo") and Cryptocarya alba Mol. Looser ("Peumo") are medicinal shrubs with wide geographical distribution in South America. Their leaves and fruits are commonly used in traditional medicine because they exhibit natural medicinal properties for treatment of liver disorders and rheumatism. However, there are no apparent data regarding potential protective effects on cellular genetic components. In order to examine potential mutagenic and/or antimutagenic effects of these medicinal plants, the Drosophila melanogaster (D...
March 17, 2017: Journal of Toxicology and Environmental Health. Part A
https://www.readbyqxmd.com/read/28303970/transient-desialylation-in-combination-with-a-novel-antithrombin-deficiency-causing-a-severe-and-recurrent-thrombosis-despite-anticoagulation-therapy
#17
Nuria Revilla, María Eugenia de la Morena-Barrio, Antonia Miñano, Raquel López-Gálvez, Mara Toderici, José Padilla, Ángel García-Avello, María Luisa Lozano, Dirk J Lefeber, Javier Corral, Vicente Vicente
An in-depth focused study of specific cases of patients with recurrent thrombosis may help to identify novel circumstances, genetic and acquired factors contributing to the development of this disorder. The aim of this study was to carry out a detailed and sequential analysis of samples from a patient suffering from early and recurrent venous and arterial thrombosis. We performed thrombophilic tests, biochemical, functional, genetic and glycomic analysis of antithrombin and other plasma proteins. The patient carried a new type I antithrombin mutation (p...
March 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28303854/clinical-auditory-phenotypes-associated-with-gata3-gene-mutations-in-familial-hypoparathyroidism-deafness-renal-dysplasia-syndrome
#18
Li Wang, Qiong-Fen Lin, Hong-Yang Wang, Jing Guan, Lan Lan, Lin-Yi Xie, Lan Yu, Ju Yang, Cui Zhao, Jin-Long Liang, Han-Lin Zhou, Huan-Ming Yang, Wen-Ping Xiong, Qiu-Jing Zhang, Da-Yong Wang, Qiu-Ju Wang
BACKGROUND: Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is an autosomal dominant disorder primarily caused by haploinsufficiency of GATA binding protein 3 (GATA3) gene mutations, and hearing loss is the most frequent phenotypic feature. This study aimed at identifying the causative gene mutation for a three-generation Chinese family with HDR syndrome and analyzing auditory phenotypes in all familial HDR syndrome cases. METHODS: Three affected family members underwent otologic examinations, biochemistry tests, and other clinical evaluations...
March 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28303436/mutations-in-catalase-peroxidase-katg-from-isoniazid-resistant-mycobacterium-tuberculosis-clinical-isolates-insights-from-molecular-dynamics-simulations
#19
Arethusa Lobo Pimentel, Regiane Bertin de Lima Scodro, Katiany Rizzieri Caleffi-Ferracioli, Vera Lúcia Dias Siqueira, Paula Aline Zanetti Campanerut-Sá, Luciana Dias Ghiraldi Lopes, Aryadne Larissa de Almeida, Rosilene Fressatti Cardoso, Flavio Augusto Vicente Seixas
The current multidrug therapy for tuberculosis (TB) is based on the use of isoniazid (INH) in combination with other antibiotics such as rifampin, ethambutol and pyrazinamide. Literature reports have shown that Mycobacterium tuberculosis, the causative agent of TB, has become resistant to this treatment by means of point mutations in the target enzymes of these drugs, such as catalase-peroxidase (KatG). By means of equilibrium molecular dynamics in the presence of the ligand, this work evaluated ten point mutations described in the enzyme KatG that are related to resistance to INH ...
April 2017: Journal of Molecular Modeling
https://www.readbyqxmd.com/read/28302382/congenital-heart-defect-causing-mutation-in-nkx2-5-displays-in-vivo-functional-deficit
#20
Abeer F Zakariyah, Rashida F Rajgara, John P Veinot, Ilona S Skerjanc, Patrick G Burgon
The Nkx2.5 gene encodes a transcription factor that plays a critical role in heart development. In humans, heterozygous mutations in NKX2.5 result in congenital heart defects (CHDs). However, the molecular mechanisms by which these mutations cause the disease remain unknown. NKX2.5-R142C is a mutation that was reported to be associated with atrial septal defect (ASD) and atrioventricular (AV) block in 13-patients from one family. The R142C mutation is located within both the DNA-binding domain and the nuclear localization sequence of NKX2...
March 14, 2017: Journal of Molecular and Cellular Cardiology
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