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https://www.readbyqxmd.com/read/28086840/evidence-of-multiple-insecticide-resistance-mechanisms-in-anopheles-gambiae-populations-in-bangui-central-african-republic
#1
Marina Lidwine Olé Sangba, Aboubakar Sidick, Renaud Govoetchan, Christian Dide-Agossou, Razaki A Ossè, Martin Akogbeto, Mamadou Ousmane Ndiath
BACKGROUND: Knowledge of insecticide resistance status in the main malaria vectors is an essential component of effective malaria vector control. This study presents the first evaluation of the status of insecticide resistance in Anopheles gambiae populations from Bangui, the Central African Republic. METHODS: Anopheles mosquitoes were reared from larvae collected in seven districts of Bangui between September to November 2014. The World Health Organisation's bioassay susceptibility tests to lambda-cyhalothrin (0...
January 13, 2017: Parasites & Vectors
https://www.readbyqxmd.com/read/28086795/atherosclerotic-and-thrombotic-genetic-and-environmental-determinants-in-egyptian-coronary-artery-disease-patients-a-pilot-study
#2
Manal S Fawzy, Eman A Toraih, Nagwa M Aly, Abeer Fakhr-Eldeen, Dahlia I Badran, Mohammad H Hussein
BACKGROUND: Coronary artery disease (CAD) is the leading cause of morbidity and mortality worldwide. Multiple genetic variants in combination with various environmental risk factors have been implicated. This study aimed to investigate the association of twelve thrombotic and atherosclerotic gene variants in combination with other environmental risk factors with CAD risk in a preliminary sample of Egyptian CAD patients. METHODS: Twenty three consecutive CAD patients undergoing diagnostic coronary angiography and 34 unrelated controls, have been enrolled in the study...
January 13, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/28066509/development-and-implementation-of-rapid-metabolic-engineering-tools-for-chemical-and-fuel-production-in-geobacillus-thermoglucosidasius-ncimb-11955
#3
Lili Sheng, Katalin Kovács, Klaus Winzer, Ying Zhang, Nigel Peter Minton
BACKGROUND: The thermophile Geobacillus thermoglucosidasius has considerable attraction as a chassis for the production of chemicals and fuels. It utilises a wide range of sugars and oligosaccharides typical of those derived from lignocellulose and grows at elevated temperatures. The latter improves the rate of feed conversion, reduces fermentation cooling costs and minimises the risks of contamination. Full exploitation of its potential has been hindered by a dearth of effective gene tools...
2017: Biotechnology for Biofuels
https://www.readbyqxmd.com/read/28011790/high-throughput-interpretation-of-gene-structure-changes-in-human-and-nonhuman-resequencing-data-using-ace
#4
William H Majoros, Michael S Campbell, Carson Holt, Erin DeNardo, Doreen Ware, Andrew S Allen, Mark Yandell, Timothy E Reddy
MOTIVATION: The accurate interpretation of genetic variants is critical for characterizing genotype-phenotype associations. Because the effects of genetic variants can depend strongly on their local genomic context, accurate genome annotations are essential. Furthermore, as some variants have the potential to disrupt or alter gene structure, variant interpretation efforts stand to gain from the use of individualized annotations that account for differences in gene structure between individuals or strains...
December 23, 2016: Bioinformatics
https://www.readbyqxmd.com/read/27994858/renal-tubular-dysgenesis-antenatal-ultrasound-scanning-and-molecular-investigations-in-a-saudi-arabian-family
#5
Mohamed H Al-Hamed, Wesam Kurdi, Nada Alsahan, Qaamariya Ambosaidi, Maha Tulbah, John A Sayer
Autosomal recessive renal tubular dysgenesis (RTD) is a rare lethal disease affecting renal development before birth. RTD is manifested by anuria and severe hypotension resulting in oligohydramnios and birth defects known as Potter's syndrome. Homozygous or compound heterozygous mutations in genes encoding components of the renin-angiotensin system (ACE, AGT, AGTR1 and REN) have been reported to cause RTD. A consanguineous family with a history of multiple stillbirths was investigated using prenatal ultrasound and molecular genetic analysis of an affected foetus...
December 2016: Clinical Kidney Journal
https://www.readbyqxmd.com/read/27918584/the-ace-1-locus-is-amplified-in-all-resistant-anopheles-gambiae-mosquitoes-fitness-consequences-of-homogeneous-and-heterogeneous-duplications
#6
Benoît S Assogba, Pascal Milesi, Luc S Djogbénou, Arnaud Berthomieu, Patrick Makoundou, Lamine S Baba-Moussa, Anna-Sophie Fiston-Lavier, Khalid Belkhir, Pierrick Labbé, Mylène Weill
Gene copy-number variations are widespread in natural populations, but investigating their phenotypic consequences requires contemporary duplications under selection. Such duplications have been found at the ace-1 locus (encoding the organophosphate and carbamate insecticides' target) in the mosquito Anopheles gambiae (the major malaria vector); recent studies have revealed their intriguing complexity, consistent with the involvement of various numbers and types (susceptible or resistant to insecticide) of copies...
December 2016: PLoS Biology
https://www.readbyqxmd.com/read/27818199/the-effect-of-structural-motifs-on-the-ectodomain-shedding-of-human-angiotensin-converting-enzyme
#7
Nailah Conrad, Sylva L U Schwager, Adriana K Carmona, Edward D Sturrock
Somatic angiotensin converting enzyme (sACE) is comprised of two homologous domains (N and C domains), whereas the smaller germinal isoform (tACE) is identical to the C domain. Both isozymes share an identical stalk, transmembrane and cytoplasmic domain, and undergo ectodomain shedding by an as yet unknown protease. Here we present evidence for the role of regions distal and proximal to the cleavage site in human ACE shedding. First, because of intrinsic differences between the N and C domains, discrete secondary structures (α-helix 7 and 8) on the surface of tACE were replaced with their N domain counterparts...
December 2, 2016: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/27788882/hereditary-angioedema-with-f12-mutation-clinical-features-and-enzyme-polymorphisms-in-9-southwestern-spanish-families
#8
Macarena Piñero-Saavedra, Teresa González-Quevedo, Blanca Saenz de San Pedro, Cristina Alcaraz, Pedro Bobadilla-González, Lourdes Fernández-Vieira, Belén Hinojosa, Raúl García-Lozano
BACKGROUND: Information on F12 mutation hereditary angioedema (HAE) is still limited, but Spain is now recognized as having one of the highest concentrations of cases in Western Europe. OBJECTIVE: To describe unique features of HAE in Spanish carriers of the F12 mutation and investigate a potential role for angiotensin-converting enzyme (ACE) and aminopeptidase-P polymorphisms in disease expression. METHODS: This was a prospective observational cohort study of 35 individuals (80% females) from 9 unrelated families carrying the p...
November 2016: Annals of Allergy, Asthma & Immunology
https://www.readbyqxmd.com/read/27753868/poa-02-1-genetic-basis-of-blood-pressure-and-hypertension
#9
Anna F Dominiczak
Human primary or essential hypertension is a complex, polygenic trait with some 50% contribution from genes and environment. Richard Lifton and colleagues provided elegant dissection of several rare Mendelian forms of hypertension, exemplified by the glucocorticoid remediable aldosteronism and Liddle's syndrome. These discoveries illustrate that a single gene mutation can explain the entire pathogenesis of severe, early onset hypertension as well as dictating the best treatment. The dissection of the much more common polygenic hypertension has proven much more difficult...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27753828/sy-03-1-genetic-basis-of-blood-pressure-and-hypertension
#10
Anna Dominiczak
Human primary or essential hypertension is a complex, polygenic trait with some 50% contribution from genes and environment. Richard Lifton and colleagues provided elegant dissection of several rare Mendelian forms of hypertension, exemplified by the glucocorticoid remediable aldosteronism and Liddle's syndrome. These discoveries illustrate that a single gene mutation can explain the entire pathogenesis of severe, early onset hypertension as well as dictating the best treatment.The dissection of the much more common polygenic hypertension has proven much more difficult...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27734897/lysozyme-and-bilirubin-bind-to-ace-and-regulate-its-conformation-and-shedding
#11
Sergei M Danilov, Heinrich Lünsdorf, Henry T Akinbi, Andrew B Nesterovitch, Yuliya Epshtein, Eleftheria Letsiou, Olga V Kryukova, Tobias Piegeler, Elena Z Golukhova, David E Schwartz, Randal O Dull, Richard D Minshall, Olga A Kost, Joe G N Garcia
Angiotensin I-converting enzyme (ACE) hydrolyzes numerous peptides and is a critical participant in blood pressure regulation and vascular remodeling. Elevated tissue ACE levels are associated with increased risk for cardiovascular and respiratory disorders. Blood ACE concentrations are determined by proteolytic cleavage of ACE from the endothelial cell surface, a process that remains incompletely understood. In this study, we identified a novel ACE gene mutation (Arg532Trp substitution in the N domain of somatic ACE) that increases blood ACE activity 7-fold and interrogated the mechanism by which this mutation significantly increases blood ACE levels...
October 13, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27643105/poa-02-1-genetic-basis-of-blood-pressure-and-hypertension
#12
Anna F Dominiczak
Human primary or essential hypertension is a complex, polygenic trait with some 50% contribution from genes and environment. Richard Lifton and colleagues provided elegant dissection of several rare Mendelian forms of hypertension, exemplified by the glucocorticoid remediable aldosteronism and Liddle's syndrome. These discoveries illustrate that a single gene mutation can explain the entire pathogenesis of severe, early onset hypertension as well as dictating the best treatment. The dissection of the much more common polygenic hypertension has proven much more difficult...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27642881/sy-03-1-genetic-basis-of-blood-pressure-and-hypertension
#13
Anna Dominiczak
Human primary or essential hypertension is a complex, polygenic trait with some 50% contribution from genes and environment. Richard Lifton and colleagues provided elegant dissection of several rare Mendelian forms of hypertension, exemplified by the glucocorticoid remediable aldosteronism and Liddle's syndrome. These discoveries illustrate that a single gene mutation can explain the entire pathogenesis of severe, early onset hypertension as well as dictating the best treatment.The dissection of the much more common polygenic hypertension has proven much more difficult...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27639441/human-teratogens-and-genetic-phenocopies-understanding-pathogenesis-through-human-genes-mutation
#14
Matteo Cassina, Giulia A Cagnoli, Daniela Zuccarello, Elena Di Gianantonio, Maurizio Clementi
Exposure to teratogenic drugs during pregnancy is associated with a wide range of embryo-fetal anomalies and sometimes results in recurrent and recognizable patterns of malformations; however, the comprehension of the mechanisms underlying the pathogenesis of drug-induced birth defects is difficult, since teratogenesis is a multifactorial process which is always the result of a complex interaction between several environmental factors and the genetic background of both the mother and the fetus. Animal models have been extensively used to assess the teratogenic potential of pharmacological agents and to study their teratogenic mechanisms; however, a still open issue concerns how the information gained through animal models can be translated to humans...
January 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27638906/the-unfolded-protein-response-controls-er-stress-induced-apoptosis-of-lung-epithelial-cells-through-angiotensin-generation
#15
Hang Nguyen, Bruce D Uhal
Recent work from this laboratory showed that endoplasmic reticulum (ER) stress-induced apoptosis of alveolar epithelial cells (AECs) is regulated by the autocrine angiotensin (ANG)II/ANG1-7 system. The proteasome inhibitor MG132 or surfactant protein C (SP-C) BRICHOS domain mutation G100S induced apoptosis in human AECs by activating the proapoptotic cathepsin D and reducing antiapoptotic angiotensin converting enzyme-2 (ACE-2). This study tested the hypothesis that ER stress-induced apoptosis of human AECs might be mediated by influence of the unfolded protein response (UPR) on the autocrine ANGII/ANG1-7 system...
November 1, 2016: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://www.readbyqxmd.com/read/27636235/the-influence-of-angiotensin-converting-enzyme-mutations-on-the-kinetics-and-dynamics-of-n-domain-selective-inhibition
#16
Lizelle Lubbe, Brian T Sewell, Edward D Sturrock
: Angiotensin-1-converting enzyme (ACE) is a zinc metalloprotease that plays a major role in blood pressure regulation via the renin-angiotensin-aldosterone system. ACE consists of two domains with differences in inhibitor binding affinities despite their 90% active site identity. While the C-domain primarily controls blood pressure, the N-domain is selective for cleavage of the antifibrotic N-acetyl-Ser-Asp-Lys-Pro. Inhibitors, such as 33RE, that selectively bind to the N-domain thus show potential for treating fibrosis without affecting blood pressure...
November 2016: FEBS Journal
https://www.readbyqxmd.com/read/27619324/a-variety-of-gene-polymorphisms-associated-with-idiopathic-granulomatous-mastitis
#17
Sebahattin Destek, Vahit Onur Gul, Serkan Ahioglu
Idiopathic granulomatous mastitis (IGM) is a rare and chronic inflammatory disorder. IGM mimics breast cancer regarding its clinical and radiological features. Etiology of IGM remains unclarified. Our patient was 37-year-old and 14 weeks pregnant. There was pain, redness and swelling in the right breast. The mass suggestive of malignancy was detected in sonography. Serum CA 125 and CA 15-3 levels were high. Genetic analysis was performed for the etiology. methylenetetrahydrofolate reductase (MTHFR) C 677 TT, β-fibrinogen-455 G>A, plasminogen activator inhibitor (PAI)-1 5 G/5 G, angiotensin-converting enzyme (ACE) I/D mutation was found...
2016: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/27549778/investigation-of-mechanisms-of-bendiocarb-resistance-in-anopheles-gambiae-populations-from-the-city-of-yaound%C3%A3-cameroon
#18
Christophe Antonio-Nkondjio, Rodolphe Poupardin, Billy Fossog Tene, Edmond Kopya, Carlo Costantini, Parfait Awono-Ambene, Charles S Wondji
BACKGROUND: Resistance to the carbamate insecticide bendiocarb is emerging in Anopheles gambiae populations from the city of Yaoundé in Cameroon. However, the molecular basis of this resistance remains uncharacterized. The present study objective is to investigate mechanisms promoting resistance to bendiocarb in An. gambiae populations from Yaoundé. METHODS: The level of susceptibility of An. gambiae s.l. to bendiocarb 0.1 % was assessed from 2010 to 2013 using bioassays...
2016: Malaria Journal
https://www.readbyqxmd.com/read/27508801/-op-lb-02-05-a-patient-with-malignant-hypertension-successfully-treated-with-eculizumab-and-bosentan-suggestions-of-significant-interactions-of-complement-and-the-endothelin-system-in-blood-pressure-control
#19
A Mitchell, B Nokay, H Guberina, U Behlen-Wilm, M Nagel, M Kirschfink, T Wiech, A Kribben, A Bienholz
OBJECTIVE: Malignant hypertension as borne out by uncontrolled hypertension with accelerated target organ damage has a variable and often dire prognosis. Loss of kidney function is a hallmark of the condition and is frequently accompanied by thrombotic microangiopathy (TMA). DESIGN AND METHOD: Here we present the case of a patient with malignant hypertension, who was successfully treated using a combination of in-label and off-label medication according to the following pathophysiological concepts: 1) Innate immunity has been identified as a player in blood pressure (BP) control, 2) the complement inhibitor eculizumab has become available for treating atypical hemolytic uremic syndrome (aHUS), which shares many features of malignant hypertension, 3) endothelin (ET) antagonism, although not currently approved for these indications, has been shown to be effective for treating proteinuria and as a possible adjunct for the treatment of resistant hypertension...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27432257/interactive-cost-of-plasmodium-infection-and-insecticide-resistance-in-the-malaria-vector-anopheles-gambiae
#20
Haoues Alout, Roch K Dabiré, Luc S Djogbénou, Luc Abate, Vincent Corbel, Fabrice Chandre, Anna Cohuet
Insecticide resistance raises concerns for the control of vector-borne diseases. However, its impact on parasite transmission could be diverse when considering the ecological interactions between vector and parasite. Thus we investigated the fitness cost associated with insecticide resistance and Plasmodium falciparum infection as well as their interactive cost on Anopheles gambiae survival and fecundity. In absence of infection, we observed a cost on fecundity associated with insecticide resistance. However, survival was higher for mosquito bearing the kdr mutation and equal for those with the ace-1(R) mutation compared to their insecticide susceptible counterparts...
2016: Scientific Reports
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