keyword
MENU ▼
Read by QxMD icon Read
search

Ace mutation

keyword
https://www.readbyqxmd.com/read/27818199/the-effect-of-structural-motifs-on-the-ectodomain-shedding-of-human-angiotensin-converting-enzyme
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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...
September 14, 2016: 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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/27401656/the-impact-of-inherited-thrombophilia-types-and-low-molecular-weight-heparin-treatment-on-pregnancy-complications-in-women-with-previous-adverse-outcome
#15
Nada Aracic, Damir Roje, Ivana Alujevic Jakus, Marinela Bakotin, Vedran Stefanovic
PURPOSE: To assess the distribution of births and spontaneous abortions, first-trimester abortion (FTA) and mid-trimester abortion (MTA), in untreated (n=128) and low molecular weight heparin (LMWH) treated pregnancies (n=50) of the same women with inherited thrombophilias and adverse pregnancy outcome (APO) in previous pregnancies. We particularly investigated the impact of LMWH on reducing the pregnancy complications in two thrombophilia types, "Conventional" and "Novel". MATERIALS AND METHODS: 50 women with inherited thrombophilia (26 Conventional and 24 Novel) and APO in previous pregnancies were included in the study...
September 2016: Yonsei Medical Journal
https://www.readbyqxmd.com/read/27349342/a-mutation-within-the-sh2-domain-of-slp-76-regulates-the-tissue-distribution-and-cytokine-production-of-inkt-cells-in-mice
#16
Claudia Danzer, Anna Koller, Julia Baier, Harald Arnold, Claudia Giessler, Robert Opoka, Stephanie Schmidt, Maike Willers, Sidonia Mihai, Hans Parsch, Stefan Wirtz, Christoph Daniel, Annegret Reinhold, Swen Engelmann, Stefanie Kliche, Christian Bogdan, Kasper Hoebe, Jochen Mattner
TCR ligation is critical for the selection, activation, and integrin expression of T lymphocytes. Here, we explored the role of the TCR adaptor protein slp-76 on iNKT-cell biology. Compared to B6 controls, slp-76(ace/ace) mice carrying a missense mutation (Thr428Ile) within the SH2-domain of slp-76 showed an increase in iNKT cells in the thymus and lymph nodes, but a decrease in iNKT cells in spleens and livers, along with reduced ADAP expression and cytokine response. A comparable reduction in iNKT cells was observed in the livers and spleens of ADAP-deficient mice...
September 2016: European Journal of Immunology
https://www.readbyqxmd.com/read/27344574/a-novel-acee-mutation-leading-to-a-better-growth-profile-and-a-higher-l-serine-production-in-a-high-yield-l-serine-producing-corynebacterium-glutamicum-strain
#17
Wen Guo, Ziwei Chen, Xiaomei Zhang, Guoqiang Xu, Xiaojuan Zhang, Jinsong Shi, Zhenghong Xu
A comparative genomic analysis was performed to study the genetic variations between the L-serine-producing strain Corynebacterium glutamicum SYPS-062 and the mutant strain SYPS-062-33a, which was derived from SYPS-062 by random mutagenesis with enhanced L-serine production. Some variant genes between the two strains were reversely mutated or deleted in the genome of SYPS-062-33a to verify the influences of the gene mutations introduced by random mutagenesis. It was found that a His-594 → Tyr mutation in aceE was responsible for the more accumulation of by-products, such as L-alanine and L-valine, in SYPS-062-33a...
September 2016: Journal of Industrial Microbiology & Biotechnology
https://www.readbyqxmd.com/read/27232122/indirect-evidence-that-agricultural-pesticides-select-for-insecticide-resistance-in-the-malaria-vector-anopheles-gambiae
#18
Djogbénou S Luc, Assogba Benoit, Djossou Laurette, Makoutode Michel
We investigated the possible relationship between the agricultural use of insecticides and the emergence of insecticide resistance. Bioassays were conducted using simulated mosquito larval habitats and well known Anopheles gambiae strains. Soil samples were collected from vegetable production areas in Benin, including one site with insecticide use, one site where insecticides had not been used for two months, and a third where insecticides had not been used. Pupation and emergence rates were very low in pyrethroid-susceptible strains when exposed to soil that had been recently exposed to insecticides...
June 2016: Journal of Vector Ecology: Journal of the Society for Vector Ecology
https://www.readbyqxmd.com/read/27223647/which-are-the-most-common-thrombophilic-genetic-nucleotide-polymorphisms-in-infertile-women-undergoing-an-ivf-cycle
#19
Ferdinando Antonio Gulino, Stella Capriglione, Marta Fauzia, Luisa Maria Di Gregorio, Alessandra Di Stefano, Giulia Musmeci, Roberto Angioli, Marco Antonio Palumbo
INTRODUCTION: Thrombophilia is considered one of the causes of infertility, especially after repeated failures of IVF techniques. The aim of this work is to evaluate the incidence of thrombophilia in women who underwent IVF cycles and assess the outcome of the techniques. METHODS: In vivo study. The study sample was composed of 262 women undergoing a fresh cycle of in vitro fertilization (IVF) cycle of Intracytoplasmatic Sperm Injection (ICSI) from July 2012 to December 2014 in the Center of Physiopathology of Human Reproduction...
May 25, 2016: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27151152/circumsporozoite-protein-rates-blood-feeding-pattern-and-frequency-of-knockdown-resistance-mutations-in-anopheles-spp-in-two-ecological-zones-of-mauritania
#20
Khadijetou Mint Lekweiry, Mohamed Salem Ould Ahmedou Salem, Christelle Cotteaux-Lautard, Fanny Jarjaval, Adeline Marin-Jauffre, Hervé Bogreau, Leonardo Basco, Sébastien Briolant, Ali Ould Mohamed Salem Boukhary, Khyarhoum Ould Brahim, Frédéric Pagès
BACKGROUND: Mosquitoes belonging to Anopheles gambiae species complex are the main malaria vector in Mauritania but data on their vector capacities, feeding habits and insecticide susceptibility are still scanty. The objectives of this study were to fill this gap. METHODS: Adult Anopheles spp. mosquitoes were collected using pyrethrum spray catch method from two ecological zones of Mauritania: Nouakchott (Saharan zone) and Hodh Elgharbi region (Sahelian zone). Circumsporozoite proteins (CSP) for P...
2016: Parasites & Vectors
keyword
keyword
51398
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"