ACE2CarboxypeptidaseInhibitorsPolymorphismsGenotypesDeletionCoronary arteryHypertensionKininaseOctapeptide angiotensinAngiotensinogenMethylenetetrahydrofolate reductaseACEHSusceptibilityProteinBradykininPotent vasoconstrictorInhibitor2350HaplotypeAcuteVasoconstrictionPMIDTraitInhibitionInteractionsRAASAllele of ACE geneCardiovascularGeneticPolymorphism is notAldosteroneReductionActivityVascularC677TDifferential gene expressionTypeCYP11B2HormoneDiseaseCellsRegulationSuggest that ACE geneTherapyMutations
ACE28
- Immobilized SARS-CoV S-RBD (CSB-MP348663HQE) at 2 μg/ml can bind Paguma larvata ACE2, the EC50 is 5.056-7.559 ng/ml.②Recombinant Paguma larvata ACE2 protein (CSB-MP684964PAL) enzyme activity is measured by its ability to cleave fluorogenic peptide substrate (Mca-Ala-Pro-Lys (Dnp) -OH) , The Km is 22.84 μM. (joplink.net)
- Angiotensin-converting enzyme-related carboxypeptidase (ACE2) is a recently identified zinc metalloprotease with carboxypeptidase activity that was identified using our genomics platform. (acs.org)
- Recombinant Angiotensin I Converting Enzyme 2 (ACE2) is Available at Gentaur Genprice with the fastest delivery. (proteomecommons.org)
- SARS‑CoV‑2 infection is initiated when the virus interacts with angiotensin‑converting enzyme 2 (ACE2) receptors on host cells. (spandidos-publications.com)
- Notably, residues of receptor-binding domain (RBD) showing crucial interactions with angiotensin-converting enzyme 2 (ACE2) and cross-reacting neutralizing antibody were found to be conserved among the analyzed virus strains, except for replacement of lysine with arginine at 378th position of the cryptic epitope of a Shanghai isolate, hCoV-19/Shanghai/SH0007/2020 (EPI_ISL_416320). (nature.com)
- Mice are refractory to SARS-CoV-2 infection owing to low-affinity binding to the murine angiotensin-converting enzyme 2 (ACE2) protein. (jci.org)
- Here, we evaluated the pathogenesis of SARS-CoV-2 in male and female mice expressing the human ACE2 gene under the control of the keratin 18 promoter (K18). (jci.org)
- The number of children infected with SARS-CoV-2 is relatively small, perhaps due to the lower expression of Angiotensin Converting Enzyme 2 (ACE2) in children compared to adults. (bvsalud.org)
Carboxypeptidase4
- ACE is also known by the following names: dipeptidyl carboxypeptidase I peptidase P dipeptide hydrolase peptidyl dipeptidase angiotensin converting enzyme kininase II angiotensin I-converting enzyme carboxycathepsin dipeptidyl carboxypeptidase "hypertensin converting enzyme" peptidyl dipeptidase I peptidyl-dipeptide hydrolase peptidyldipeptide hydrolase endothelial cell peptidyl dipeptidase peptidyl dipeptidase-4 PDH peptidyl dipeptide hydrolase DCP CD143 ACE hydrolyzes peptides by the removal of a dipeptide from the C-terminus. (wikipedia.org)
- ACE-2 is the SARS-CoV and SARS-CoV2 Spike protein receptor in vivo (4-6), functions catalytically as a carboxypeptidase to cleave several substrates including angiotensins I and II, and acts as a partner for B0AT1-family amino acid transporters (1, 2). (rndsystems.com)
- Carboxypeptidase which converts angiotensin I to angiotensin 1-9, a peptide of unknown function, and angiotensin II to angiotensin 1-7, a vasodilator. (avivasysbio.com)
- ACE-2 cleaves angiotensins I and II as a carboxypeptidase, ACE-2 converts angiotensin I to angiotensin 1-9, and angiotensin II to angiotensin 1-7. (prosci-inc.com)
Inhibitors11
- Some studies suggest that ACE inhibitors that are able to pass the blood-brain-barrier (BBB) could enhance the activity of major amyloid-beta peptide degrading enzymes like neprilysin in the brain resulting in a slower development of Alzheimer's disease. (wikipedia.org)
- Wrona W, Budka K, Filipiak KJ, Niewada M, Wojtyniak B, Zdrojewski T. Health outcomes and economic consequences of using angiotensin-converting enzyme inhibitors in comparison with angiotensin receptor blockers in the treatment of arterial hypertension in the contemporary Polish setting. (medscape.com)
- Cardiovascular risk reduction in hypertension: angiotensin-converting enzyme inhibitors, angiotensin receptor blockers. (medscape.com)
- Angiotensin-Converting Enzyme Inhibitors in Hypertension: To Use or Not to Use? (medscape.com)
- Angiotensin-converting enzyme inhibitors. (medscape.com)
- Structure-Guided Chemical Optimization of Bicyclic Peptide (Bicycle) Inhibitors of Angiotensin-Converting Enzyme 2. (acs.org)
- Development of Potent and Selective Phosphinic Peptide Inhibitors of Angiotensin-Converting Enzyme 2. (acs.org)
- In humans, angiotensin-converting enzyme inhibitors, a potent class of antihypertensive agents, lower blood pressure at least partially by favoring enhanced kinin accumulation in plasma and target tissues. (nature.com)
- The majority of children enrolled in the study were on ACE inhibitors or angiotensin-receptor blockers, mineralocorticoid receptor antagonists, and beta blockade. (acc.org)
- May induce a more complete inhibition of the renin-angiotensin system than ACE inhibitors, do not affect the response to bradykinin, and are less likely to be associated with cough and angioedema. (medscape.com)
- To improve proteinuria, physicians prescribed a 3-month course of angiotensin-converting enzyme inhibitors after discharge. (cdc.gov)
Polymorphisms16
- The aim of this study was to determine distribution of the angiotensin I converting enzyme (ACE) gene polymorphisms and their influence on RAS susceptibility in Czech population. (muni.cz)
- Five ACE gene polymorphisms (rs4291/rs4305/rs4311/rs4331/rs1799752 = ACE I/D) were determined by TaqMan technique. (muni.cz)
- Several single nucleotide polymorphisms (SNPs) of renin-angiotensin system (RAS) genes are associated with hypertension (HT) but most of them are focusing on single locus effects. (hindawi.com)
- The aim of this study was to investigate the frequency of ACE insertion/deletion (I/D) and AT1R (A1166C) gene polymorphisms in ischemic stroke patients in Trakya region and the relation between these gene polymorphisms and stroke subtypes and vascular risk factors. (balkanmedicaljournal.org)
- Our results show that ACE I/D and AT1R (A1166C) gene polymorphisms were not genetic risk factors for ischemic stroke in subjects in Trakya region. (balkanmedicaljournal.org)
- To our knowledge, angiotensin converting enzyme ( ACE ) gene I/D polymorphisms have not yet been investigated in AS patients in Turkish population.This study was conducted in Turkish patients with AS to determine the frequency of I/D polymorphism genotypes of angiotensin converting enzyme gene. (molvis.org)
- Polymorphisms of the angiotensin converting enzyme gene in early-onset and late onset pre-eclampsia. (tcd.ie)
- RAS gene polymorphisms, classical risk factors and the advent of coronary artery disease in the Portuguese population. (snpedia.com)
- Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues. (snpedia.com)
- PMID 21258267 ] Angiotensin-converting enzyme tag single nucleotide polymorphisms in patients with intracerebral hemorrhage. (snpedia.com)
- Methods: This case-control study conducted in Srinagar, Kashmir (North India) between 2013 and 2015 was designed to evaluate risk induced due to MTH-FR 677C>T gene polymorphisms to contribute in susceptibility for migraine in Kashmir population (North India). (scirp.org)
- In this study, we attempted to determine whether two representative polymorphisms of the ACE gene, ACE I/D and 2350 G>A, known to be associated with EH and to influence plasma ACE levels most significantly, could implicate ACE as a quantitative trait locus (QTL) for LVH. (nel.edu)
- NAION and control groups were compared in regard to the prevalence of renin-angiotensin-aldosterone system polymorphisms, and further stratified by age and gender. (molvis.org)
- Since NAION may occur when compromised watershed microcirculation is combined with insufficient autoregulation of systematic circulation, polymorphisms of genes involved in systematic circulation, such as the RAAS genes, may be associated with NAION occurrence. (molvis.org)
- The renin-angiotensin system genes exhibit three common polymorphisms: the insertion/deletion (I/D) polymorphism of the angiotensin-converting enzyme ( ACE ) gene, the M235T polymorphism of the angiotensinogen gene ( AGT ), and the A1166C polymorphism of the angiotensin II type 1 receptor gene ( AT1-receptor ). (molvis.org)
- The enabled homolog gene polymorphisms are associated with susceptibility and progression of childhood IgA nephropathy. (medscape.com)
Genotypes3
- Distribution of ACE gene I/D genotypes and allele frequencies in patients were not significantly different from controls. (ksbu.edu.tr)
- Here, we introduce an unbalanced function based on multifactor dimensionality reduction (MDR) for multiloci genotypes to detect high order gene-gene (SNP-SNP) interaction in unbalanced cases and controls of HT data. (hindawi.com)
- Genotypes were determined by polymerase chain reaction and restriction enzyme analysis. (molvis.org)
Deletion9
- Therefore, we investigated the possible association of ACE gene insertion/deletion (I/D) polymorphism and the severity of atherosclerosis, estimated on the basis of the number of coronary stenoses and critical arterial occlusions observed during coronary angiography. (degruyter.com)
- The D allele of angiotensin I-converting enzyme gene insertion/deletion polymorphism is associated with the severity of atherosclerosis" Clinical Chemistry and Laboratory Medicine , vol. 46, no. 4, 2008, pp. 446-452. (degruyter.com)
- Niemiec, P., Zak, I. and Wita, K. (2008) The D allele of angiotensin I-converting enzyme gene insertion/deletion polymorphism is associated with the severity of atherosclerosis. (degruyter.com)
- Long term clinical outcome was obtained and the rates of major adverse cardiac events (death, non-fatal acute myocardial infarction, unstable angina, and revascularisation) were compared according to the insertion/deletion (I/D) polymorphism of the ACE gene. (bmj.com)
- Previous studies have indicated that the Angiotensin I converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism could influence human physical performance. (go.jp)
- We have investigated the association among the allelic distribution of the insertion/deletion (I/D) polymorphism of the ACE gene identified by polymerase chain reaction. (ksbu.edu.tr)
- The primary objective of this study was to determine the effect of an insertion/deletion polymorphism within the angiotensin-converting enzyme (ACE) gene on HRV in the early stages after a myocardial infarction at a time when cardiac autonomic control is deranged. (birmingham.ac.uk)
- We examined the association of the insertion/deletion (I/D) polymorphism of the angiotensin-converting enzyme gene, of the M235T polymorphism of the angiotensinogen gene, and of the A1166C polymorphism of the angiotensin II type 1 receptor gene with NAION. (molvis.org)
- Regarding the angiotensin-converting enzyme insertion/deletion polymorphism, our findings suggest that the II genotype could be a risk factor for NAION in younger male patients when compared to all cases and controls (p=0.033, odds ratio=5.71, confidence interval=1.152¨C28.35 and p=0.03, odds ratio=5.33, confidence interval=1.17¨C24.31 respectively). (molvis.org)
Coronary artery3
- To evaluate prospectively the influence of an angiotensin I converting enzyme (ACE) gene polymorphism on long term clinical outcome of patients with established coronary artery disease treated by percutaneous coronary intervention. (bmj.com)
- The interactions between T174M, M235T, G-6A, A-20C, G-152A, G-217A of AGT gene, I/D of ACE gene, and A1166C of AT 1 R gene have been examined in coronary artery disease [ 12 ]. (hindawi.com)
- A significant effect of gene-gene interaction in coronary artery disease was detected for G-217A and M235T of AGT gene and I/D of ACE gene. (hindawi.com)
Hypertension8
- Studies on the role of the angiotensin-converting enzyme (ACE) gene in the development of hypertension have yielded conflicting results. (nih.gov)
- Our study underlines the importance of gene-environment interactions in the study of candidate genes for hypertension. (nih.gov)
- AGT , ACE , and AT 1 R genes have overall effects with susceptibility to hypertension, where the SNPs of ACE have a mainly hypertension-associated effect and show an interacting effect to SNPs of AGT and AT 1 R genes. (hindawi.com)
- For example, the SNP G-217A of AGT gene but not the SNPs A-6G and M235T of AGT gene may associate with hypertension in patients from Taiwan [ 1 ]. (hindawi.com)
- The I allele of ACE gene and +1166 C allele of AT 1 R gene are reportedly associated with hypertension [ 10 ]. (hindawi.com)
- Here, we describe a case-control study of hypertension susceptibility that specifically evaluates gene-gene interactions using unbalanced function based MDR [ 25 ] that combines traditional statistical methods with novel computational algorithms. (hindawi.com)
- This is to classify by MDR classifier, to analyze possible gene-gene interactions associated with hypertension. (hindawi.com)
- PMID 17460369 ] Angiotensin-converting enzyme gene 2350 G/A polymorphism is associated with left ventricular hypertrophy but not essential hypertension. (snpedia.com)
Kininase2
- Kininase II is the same as angiotensin-converting enzyme. (wikipedia.org)
- also known as peptidyl dipeptidase A or kininase II), encoded by the ACE gene (GenBank NM_000789.2 ). (molvis.org)
Octapeptide angiotensin2
- Likewise it converts the inactive decapeptide angiotensin I to the octapeptide angiotensin II by removing the dipeptide His-Leu. (wikipedia.org)
- ACE is a zinc metallopeptidase that cleaves the C-terminal dipeptide from angiotensin I to produce the potent vasopressor octapeptide angiotensin II. (merckmillipore.com)
Angiotensinogen1
- NAION occurrence was not associated with the M235T polymorphism of the angiotensinogen gene and the A1166C polymorphism of the angiotensin II, type 1 receptor gene. (molvis.org)
Methylenetetrahydrofolate reductase1
- Angiotensin converting enzyme and methylenetetrahydrofolate reductase gene variations in fibromyalgia syndrome. (cdc.gov)
ACEH1
- Angiotensin I Converting Enzyme (ACE-2), also called ACEH (ACE homologue), is a dimeric, zinc-dependent metalloprotease of the ACE family that also includes somatic and germinal ACE (1, 2). (rndsystems.com)
Susceptibility2
- Accumulating evidence indicates that high order gene-gene (SNP-SNP) interaction can deeply affect disease susceptibility. (hindawi.com)
- The angiotensin converting enzyme gene (ACE) is a candidate gene for an individual's genetic susceptibility to left ventricular hypertrophy (LVH). (nel.edu)
Protein3
- Angiotensin-Converting Enzyme 2 (ACE-2) is an integral membrane protein and a zinc metalloprotease of the ACE family, the ACE family includes somatic and germinal ACE. (prosci-inc.com)
- Evidence from the systematic gene-level mutational and protein profile analyses revealed a large number of amino acid (aa) substitutions (n = 744), demonstrating the viral proteins heterogeneous. (nature.com)
- Diagnosis is suggested clinically and is confirmed by genetic testing or analysis of the protein product (dystrophin) of the mutated gene. (msdmanuals.com)
Bradykinin4
- Thus, the same enzyme (ACE) that generates a vasoconstrictor (ANG II) also disposes of vasodilators (bradykinin). (wikipedia.org)
- Under physiological conditions the enzyme reaches about 60% of its maximal activity toward angiotensin I while it reaches its full activity toward bradykinin. (wikipedia.org)
- That results in the decreased formation of angiotensin II and decreased metabolism of bradykinin, which leads to systematic dilation of the arteries and veins and a decrease in arterial blood pressure. (wikipedia.org)
- Kinins (bradykinin and lys-bradykinin) are endogenous vasodilators and natriuretic peptides known best for their ability to antagonize angiotensin-induced vasoconstriction and sodium retention. (nature.com)
Potent vasoconstrictor2
- Angiotensin II is a potent vasoconstrictor in a substrate concentration-dependent manner. (wikipedia.org)
- Prevents conversion of angiotensin I to angiotensin II, which is a potent vasoconstrictor. (medscape.com)
Inhibitor2
- Principal Conclusions The I/D polymorphism within the ACE gene does not influence HRV after MI or the HRV response to ACE inhibitor therapy with ramipril. (birmingham.ac.uk)
- PMID 21832968 ] Pharmacogenetic predictors of angiotensin-converting enzyme inhibitor-induced cough: the role of ACE, ABO, and BDKRB2 genes. (snpedia.com)
23501
- PMID 23065222 ] Association of angiotensin-converting enzyme gene 2350 G/A polymorphism with diabetic retinopathy in Chinese Han population. (snpedia.com)
Haplotype1
- An association analysis of Alzheimer disease candidate genes detects an ancestral risk haplotype clade in ACE and putative multilocus association between ACE, A2M, and LRRTM3. (snpedia.com)
Acute4
- This study was carried out to determine angiotensin-converting enzyme (ACE) gene polymorphism in Turkish acute stroke patients and to establish whether there is an association of angiotensin-converting enzyme gene I/D polymorphism with clinical parameters. (ksbu.edu.tr)
- For example, the A1166C of AT 1 R gene and I/D of ACE gene have synergistic effects on acute myocardial infarction [ 11 ]. (hindawi.com)
- there- he coronavirus that causes severe acute respiratory fore, the titer of neutralizing antibodies against the enve- syndrome (SARS-CoV) is a new human pathogen for lope can be measured by a reduction in marker gene which a vaccine may be urgently required should a new transfer. (cdc.gov)
- PMID 17173513 ] No association between variants in the ACE and angiotensin II receptor 1 genes and acute mountain sickness in Nepalese pilgrims to the Janai Purnima Festival at 4380 m. (snpedia.com)
Vasoconstriction1
- Angiotensin II binds to the type 1 angiotensin II receptor (AT1), which sets off a number of actions that result in vasoconstriction and therefore increased blood pressure. (wikipedia.org)
PMID2
- PMID 20625269 ] Amyloid-beta-Related Genes SORL1 and ACE are Genetically Associated With Risk for Late-onset Alzheimer Disease in the Chinese Population. (snpedia.com)
- PMID 21709586 ] Common variants of the ACE gene and aneurysmal subarachnoid hemorrhage in a Danish population: a case-control study. (snpedia.com)
Trait1
- If expression of a trait requires only one copy of a gene (one allele). (msdmanuals.com)
Inhibition1
- Current treatment guidelines recommend initiation of angiotensin-converting enzyme (ACE) inhibition therapy in adolescence. (acc.org)
Interactions5
- However, detecting gene-gene interactions remains a challenge due to a large number of possible SNP combinations. (hindawi.com)
- Data mining and statistical analysis are a common approach to overcome computational challenges in detecting complex gene-gene interactions. (hindawi.com)
- For example, multifactor dimensionality reduction (MDR), a nonparametric statistical method, is commonly used for detecting possible gene-gene interactions in multigene causing diseases [ 23 , 24 ]. (hindawi.com)
- Exposome research tries to reverse the paradigm of â nature versus nurtureâ and adopt one defined by complex and dynamic interactions between DNA sequence, epigenetic DNA modifications, gene expression and environmental factors that all combine to influence disease phenotypes. (aiche.org)
- A pilot study of gene/gene and gene/environment interactions in Alzheimer disease. (snpedia.com)
RAAS2
- The renin-angiotensin-aldosterone system (RAAS) is one of the most important regulatory systems of blood volume, arterial pressure and cardiovascular homeostasis. (frontiersin.org)
- Forty-seven patients with NAION and 76 controls, age- and gender-matched, were recruited and genotyped for renin-angiotensin-aldosterone system (RAAS) genes. (molvis.org)
Allele of ACE gene1
- Thus we hypothesized that the I allele of ACE gene I/D polymorphism, which relates to lower ACE activity, might be associated with slow-decline of muscle strength in the elderly. (go.jp)
Cardiovascular1
- Recent studies suggested that this gene might have smoking-dependent effects on the development of cardiovascular disease. (nih.gov)
Genetic5
- As a result of our study, angiotensin converting enzyme gene I/D polymorphism DD genotype could be a genetic marker in ankylosing spondylitis in a Turkish study population. (molvis.org)
- Explore the normal functions of human genes and the health implications of genetic changes. (medlineplus.gov)
- Genetic variants in the renin-angiotensin-aldosterone system and salt sensitivity of blood pressure. (snpedia.com)
- This rat strain has the same hypertensive background as SHR but also a genetic mutation in the leptin receptor gene, which leads to hyperphagia with an attendant wide range of metabolic abnormalities, that is, high body weight, hyperglycemia, hyperlipidemia, and hyperinsulinemia. (hindawi.com)
- X-Linked Recessive Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. (msdmanuals.com)
Polymorphism is not2
- The ACE I/D polymorphism does not influence the long term prognosis of patients with coronary disease treated by percutaneous coronary intervention, and screening patients for this gene polymorphism is not useful for secondary prevention strategies. (bmj.com)
- Our results suggest that the ACE gene polymorphism is not associated with the pathogenesis of stroke in Turkish stroke patients. (ksbu.edu.tr)
Aldosterone2
- In addition, inhibiting angiotensin II formation diminishes angiotensin II-mediated aldosterone secretion from the adrenal cortex, leading to a decrease in water and sodium reabsorption and a reduction in extracellular volume. (wikipedia.org)
- Nonpeptide angiotensin II receptor antagonist that blocks the vasoconstrictor and aldosterone-secreting effects of angiotensin II. (medscape.com)
Reduction1
- The enzyme methylene tetrahydrofolate reductase (MTHFR, EC 1.5.1.20) is involved in folate metabolism, catalyzing the reduction of 5 - 10 methyl tetrahydrofolate to 5-me- thyltetrahydrofolate, an essential substrate for the methylation of Hcy to methionine. (scirp.org)
Activity6
- In patient there was no significant relation between ACE gene (I/D) polymorphism, and necroinflammatory activity and fibrosis. (ejgm.org)
- In patients the high frequency of D/D genotype but no association between necroinflammatory activity and fibrosis suggest that ACE gene had no role in the development of fibrosis in non-alcoholic fatty liver disease, however it is a component of general metabolic disorder. (ejgm.org)
- Are the angiotensin-converting enzyme gene and activity risk factors for stroke? (ksbu.edu.tr)
- These findings may reflect the relative lack of importance of the I/D polymorphism and ACE activity in determining plasma and tissue angiotensin 11 concentration after a major stimulus to the renin-angiotensin system as occurs after myocardial infarction. (birmingham.ac.uk)
- Fatigue in Women with Fibromyalgia: A Gene-Physical Activity Interaction Study. (cdc.gov)
- For practical purposes, depending on the enzyme activity and the presence of mutations in the G6Pase and T genes, respectively, GSD type I may be subdivided into 2 major forms. (medscape.com)
Vascular1
- 1993) A kallikrein-like enzyme in human vascular tissue. (nature.com)
C677T2
- Conclusions: We conclude that MTHFR gene C677T polymorphism has no role in predisposition to the migraine in our population and cannot serve as a predictive factor for the risk of migraine. (scirp.org)
- Investigation of MTHFR C677T gene polymorphism, biochemical and clinical parameters in Turkish migraine patients: association with allodynia and fatigue. (cdc.gov)
Differential gene expression1
- The scripts used for RNA-seq data analysis including differential gene expression and gene set enrichment analysis can be found in https://github.com/akaraw/Yanshan_Zhu_et_al . (plos.org)
Type2
- angiotensin II type 1 receptor, AT 1 R ) in HT and non-HT subjects were included that showed no significant genotype differences. (hindawi.com)
- GSD type IV, also known as amylopectinosis, Glycogen Branching enzyme deficiency (GBE) or Andersen disease, is a rare disease that leads to early death. (medscape.com)
CYP11B21
- CYP11B2 gene transcription is under control of angiotensin II. (medscape.com)
Hormone1
- It converts the hormone angiotensin I to the active vasoconstrictor angiotensin II. (wikipedia.org)
Disease4
- According to the histopathological findings in liver biopsies patients with non-alcoholic fatty liver disease were determined and ACE gene (I/D) polymorphism was studied by using genomic DNA isolated from peripheral blood samples. (ejgm.org)
- Gene panels to help identify subgroups at high and low risk of coronary heart disease among those randomized to antihypertensive treatment: the GenHAT study. (snpedia.com)
- The stx 2f STEC variant is a distinct group within STEC (regarding virulence genes) and is known to cause relatively mild disease, although reports of human illness are scarce ( 3 ). (cdc.gov)
- Its clinical presentation clearly differs from other forms of GSD, because it is caused by the deficiency of the lysosomal enzyme, alpha-1,4-glucosidase, leading to the pathologic accumulation of normally structured glycogen within the lysosomes of most tissues, differs Three forms of the disease exist: infantile-onset, late-onset juvenile and adult onset. (medscape.com)
Cells1
- Activated hepatic stellate cells cause fibrosis induced by angiotensin II. (ejgm.org)
Regulation1
- Aims Heart rate variability (HRV) is a measure of cardiac autonomic control and is therefore subject to regulation by the renin-angiotensin system. (birmingham.ac.uk)
Suggest that ACE gene1
- The results of this investigation suggest that ACE gene I/D polymorphism does not affect age-related change of muscle strength in the elderly. (go.jp)
Therapy1
- Novel therapies such as single exon skipping, adeno-associated virus gene therapy, and gene-editing techniques hold promise in the treatment of patients with dystrophinopathies. (acc.org)
Mutations2
- They are caused by mutations of the dystrophin gene, the largest known human gene, at the Xp21.2 locus. (msdmanuals.com)
- It is an autosomal recessive disorder in which there is an AGL gene mutations which causes deficiency in glycogen debranchinging enzyme and limited storage of dextrin. (medscape.com)