Julián R Reguero's research while affiliated with Hospital Universitario Central de Asturias and other places
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Publications (180)
Introduction
Hypertrophic cardiomyopathy (HCM) is a inherited cardiac disease with a variable penetrance and expressivity. Epigenetics orchestrates the interplay between the environment and the molecular changes that lead to the development of the pathological phenotype. It is of great interest to identify the changes that determine the magnitude o...
In this study we performed a next generation sequencing of 210 genes in 140 patients with cardiac failure requiring a heart transplantation. We identified a total of 48 candidate variants in 47 patients. Forty-three patients (90%) presented a single variant, and fourpatients (10%) were carriers of two variants. After refining the classification, we...
Long QT syndrome (LQTS) is an inherited (autosomal dominant) channelopathy associated with susceptibility to ventricular arrhythmias due to malfunction of ion channels in cardiomyocytes, that could lead to sudden death (SD). Most pathogenic variants are in the main 3 genes: KCNQ1 (LQT1), KCNH2 (LQT2) and SCN5A (LQT3). Efforts to improve the underst...
Left Ventricular Noncompaction (LVNC) is a cardiac disease characterized by a trabecular meshwork and deep intertrabecular myocardial recesses that communicate with the left ventricular cavity. MYH7 splicing mutations are very rare, and seem to be restricted to patients with myopathy of LVNC. We characterized at the Cardiac Magnetic Resonance (CRM)...
Background:
Long QT syndrome (LQTS) is an inheritable arrhythmogenic disorder associated with life-threatening arrhythmic events (LAEs). In general, patients with LQTS2 (KCNH2) and LQTS3 (SCN5A) are considered to be a greater risk of LAEs than LQTS1 (KCNQ1) patients. Gender differences are also important. Series analyzing families with the same pa...
Familial hypercholesterolemia (FH) is an underdiagnosed genetic inherited condition that may lead to premature coronary artery disease (CAD). FH has an estimated prevalence in the general population of about 1:313. However, its prevalence in patients with premature STEMI (ST-elevation myocardial infarction) has not been widely studied. This study a...
Left ventricle non-compaction cardiomyopathy (LVNC) has gained great interest in recent years, being one of the most controversial cardiomyopathies. There are several open debates, not only about its genetic heterogeneity, or about the possibility to be an acquired cardiomyopathy, but also about its possible overdiagnosis based on imaging technique...
(1) Background: The clinical management of Brugada Syndrome (BrS) remains suboptimal. (2) Objective: To explore the role of standard electrocardiogram (ECG) spectral analysis in diagnosis and risk stratification. (3) Methods: We analyzed 337 patients—43 with a spontaneous type I ECG pattern (Spont-BrS), 112 drug induced (Induct-BrS), and 182 with a...
The nuclear-factor kappa-beta (NF-KB) is a driver of inflammation, and plays an important role in the pathogenesis of atherosclerosis and coronary artery disease (CAD). Early-onset CAD is defined as a coronary ischaemic episode at an age ≤55 years, and in our population was strongly associated with male sex and smoking. Our aim was to determine whe...
Resumen
Introducción
La miocardiopatía hipertrófica obstructiva es una enfermedad infrecuente, el tratamiento quirúrgico con miectomía septal en grandes centros mejora la clínica y la supervivencia. La miectomía septal y, en ocasiones, el reemplazo valvular mitral son las técnicas fundamentales.
Métodos
Análisis retrospectivo de 30 pacientes con...
Aim:
The long noncoding RNA H19 and its host micro RNA miR-675 have been found deregulated in cardiac hypertrophy and heart failure tissues. Our aim was to investigate whether the H19 gene variants were associated with the risk of hypertrophic cardiomyopathy (HCM).
Patients & methods:
We genotyped two H19 tag single nucleotide polymorphisms in 4...
The H19-IGF2 imprinted gene region could be implicated in the risk of developing impaired renal function (IRF). Our aim was to determine the association of several common H19-IGF2 variants and IRF in a cohort of elderly healthy individuals. The study involved 675 individuals >65 years of age, 184 with type 2 diabetes mellitus (T2DM), and 105 with I...
Resumen
Introducción y objetivos
La miocardiopatía hipertrófica (MCH) es la enfermedad cardiaca hereditaria más frecuente. El desafío actual radica en la clasificación precisa de la patogenicidad de variantes asociadas a las MCH. Para la evaluación inicial de la MCH se recomienda una ecocardiografía transtorácica (ETT). La cardiorresonancia magnét...
Introduction and objectives:
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease. The current challenge relies on the accurate classification of the pathogenicity of the variants. Transthoracic echocardiography (TTE) is recommended at initial evaluation and cardiac magnetic resonance (CMR) imaging should also be consider...
The NF-kappaB pathway might play a role in the pathogenesis of renal disease and type 2 diabetes (T2DM). Our aim was to determine whether common polymorphisms in NF-kappaB genes were associated with impaired renal function and T2DM in a cohort of healthy elderly individuals. We studied 487 individuals, all Caucasian and aged 65-85 years. A total of...
Aims
Sensitivity to flecainide testing results in suboptimal findings in patients with Brugada syndrome (BrS), leading to safety concerns. Because cardiac syncope effectively predicts outcomes in BrS, we aimed to explore its predictive value in a large cohort of negative and positive responders (NR and PR) to standard flecainide testing.
Methods a...
Aim:
To investigate whether the differential methylation of KCNQ1OT1 was associated with the risk of symptomatic long QTc.
Patients & methods:
We investigated the methylation status of KCNQ1OT1 in a cohort of patients (n = 131) with a symptomatic prolonged QTc. All the patients were genotyped for a common promoter polymorphism (rs11023840). They...
Background:
Recent exome sequencing studies identified filamin C (FLNC) as a candidate gene for hypertrophic cardiomyopathy (HCM). Our aim was to determine the rate of FLNC candidate variants in a large cohort of HCM patients who were also sequenced for the main sarcomere genes.
Methods and results:
A total of 448 HCM patients were next generati...
Introducción: La válvula aórtica unicúspide es una variante presente en el 0,02% de los individuos. Asocia dilatación de aorta ascendente y el tratamiento habitual es el reemplazo valvular aórtico pues se presenta con tejidos desestructurados. Presentamos este video en el que realizamos una cirugía conservadora de la válvula aórtica transformando u...
Several common KCNQ1 gene polymorphisms have been associated with the risk of type 2 diabetes (T2DM) and diabetic nephropathy. This effect is explained by the role of the kcnq1 protein as a potassium channel that in the pancreatic beta-cells drives an electrical signal that facilitates glucose-stimulated insulin secretion. The KCNQ1 gene is also ex...
Resumen
La secuenciación masiva (o de nueva generación) del ácido desoxirribonucleico ha revolucionado el diagnóstico genético. Esta tecnología reduce el trabajo y el coste necesarios para el análisis simultáneo de muchos genes, lo que hace que más pacientes puedan acceder a un estudio genético. En el caso de la miocardiopatía hipertrófica, se ha p...
Massive DNA sequencing, also known as next-generation sequencing, has revolutionized genetic diagnosis. This technology has reduced the effort and cost needed to analyze several genes simultaneously and has made genetic evaluation available to a larger number of patients. In hypertrophic cardiomyopathy, genetic analysis has increased from the 3 mai...
The aim of this study was to characterize the mutational spectrum of pulmonary hypertension (PH) patients through a next generation sequencing platform. In a total of 22 patients, the BMPR2, SMAD9, CAV1, KCNK3, and EIF2AK4 genes were sequenced with semiconductor chips and the ion torrent personal genome machine. We found six putative mutations in S...
Time dependent variability of ECG in Brugada Syndrome (BrS) could influence interpretation of provocative testing.
to characterize the ECG changes during and after flecainide infusion.
We studied 59 consecutive patients. The ECG was continuously analyzed during the first 30 minutes of the provocative testing and a single ECG was performed 60 minute...
Mutations in different genes encoding sarcomeric proteins are responsible for 50-60% of familial cases of hypertrophic cardiomyopathy (HCM); however, the genetic alterations causing the disease in one-third of patients are currently unknown. Here we describe a case with familial HCM of unknown cause. Whole-exome sequencing reveals a variant in the...
Background:
Mutations in at least 30 genes have been linked to hypertrophic cardiomyopathy (HCM). Due to the large size of the main HCM genes, Sanger sequencing is labor intensive and expensive. The purpose was to develop a next-generation sequencing (NGS) procedure for the main HCM genes. METHODS AND RESULTS: Multiplex amplification of the coding...
DNA variants at the genes encoding cardiac channels have been associated with inherited arrhythmias and the QT interval in the general population. Next generation sequencing technologies would be of special interest to uncover the genetic variation at these genes. The amplification and sequencing of DNA pools (instead of single individuals) would f...
Objective
To determine the relationship between lipoprotein (a) seric levels with the age of coronary artery disease debut and the severity of coronary lesions in a group of male patients less than 50 years old.
Patients and methods
We studied a group of 230 male patients, younger than 50 who were consecutively admitted to the hospital because of...
MYH7 mutations are found in ~20% of hypertrophic cardiomyopathy (HCM) patients. Currently, mutational analysis is based on the sequencing of the coding exons and a few exon-flanking intronic nucleotides, resulting in omission of single-exon deletions and mutations in internal intronic, promoter, and 3' UTR regions. We amplified and sequenced large...
La miocardiopatía hipertrófica obstructiva (MHO) afecta a 1 de 500 personas. El tratamiento quirúrgico ha demostrado ser efectivo en supervivencia y mejoría clínica, pero no es una patología frecuente y su cirugía requiere un cierto grado de experiencia.
Analizar los resultados del tratamiento quirúrgico de la MHO.
Material y métodos: Análisis retr...
To the Editor:
MicroRNAs (miRNAs)1 regulate cardiac growth and conduction and play an important role in cardiac diseases (1). Several miRNAs are differentially produced in cardiac hypertrophic tissue, compared with normal tissue, and may contribute to the development of cardiomyocyte hypertrophy (2, 3). Hypertrophic cardiomyopathy (HCM) is frequen...
MicroRNAs (miRNAs) are small RNAs that bind to mRNAs and regulate gene expression. MyoMirs are miRNAs implicated in cardio-genesis. Some MyoMirs have been found deregulated in hearts from patients with left ventricular hypertrophy (LVH). DNA variants at these miRNAs could contribute to the risk of developing hypertrophic cardiomyopathy (HCM). To te...
The main objective of this research was to define the association between common mitochondrial DNA (mtDNA) polymorphisms and mitochondrial transcription A gene (TFAM) variants and myocardial infarction (MI) in patients with atherosclerotic diseased vessels. Ten mitochondrial polymorphisms that defined the nine common European haplogroups were genot...
Angiotensin and serotonin have been identified as inducers of cardiac hypertrophy. DNA polymorphisms at the genes encoding components of the angiotensin and serotonin systems have been associated with the risk of developing cardiovascular diseases, including left ventricular hypertrophy (LVH).
We genotyped five polymorphisms of the AGT, ACE, AT1R,...
Brugada syndrome is characterized by right bundle branch block and ST-segment elevation in the right precordial ECG leads. Familial transmission is frequent and approximately 25% of cases exhibit mutations in the SCN5A gene. We analyzed the sequence of this gene in 25 Spanish patients with Brugada syndrome. In 4 (16%), we found mutations that had n...
Additional table 1. Primers used to amplify the five polymorphic sites, annealing temperature, restriction enzymes to digest the PCR-products, and size of the alleles. Primers were derived from the reference sequences for the five genes in the Ensembl database http://www.ensembl.org: ACE, ENSG00000159640; 5-HTT, ENSG00000108576; AGT, ENST0000036666...
Brugada syndrome is characterized by right bundle branch block and ST-segment elevation in the right precordial ECG leads. Familial transmission is frequent and approximately 25% of cases exhibit mutations in the SCN5A gene. We analyzed the sequence of this gene in 25 Spanish patients with Brugada syndrome. In 4 (16%), we found mutations that had n...
Additional table 2. Summary of the 40 HCM cases with sarcomeric gene mutations. In each family, we indicated the mutation, the number of mutation carriers in the family who were AT1R CC/AC or AA, and the mean onset age and mean LVWT according to the AT1R genotype.
Hypertrophic cardiomyopathy (HCM) is caused by mutations in genes that encode proteins of the cardiac sarcomere. More than 12 genes have been implicated in HCM, and most of the patients/families have a mutation in the MYH7, MYBPC3, TNNT2, TNNI3, or TPM1 genes. Clinical and echocardiographic values have a limited capacity to predict adverse events i...
Long-term Italian experience has provided evidence that preparticipation screening in competitive athletes with 12-lead ECG, history and physical examination is effective in identifying potentially lethal cardiovascular diseases. However, it is not being routinely practised in other countries.
To evaluate the usefulness of a preparticipation screen...
Objectives: Inherited and acquired risk factors contribute to the development of the atherosclerotic lesion and its most common clinical manifestation, myocardial infarction (MI). Multiple studies have suggested a role for matrix metalloproteinases (MMPs) in atherosclerosis, and several functional polymorphisms in the MMP-1 gene have been linked to...
Endothelin-1 (ET-1) promotes vasoconstriction and cell proliferation, and has been implicated in hypertension and coronary artery disease. Our aim was to analyse the role of the ET-1 gene (EDN1) in the risk for atherosclerosis/myocardial infarction (MI) in a population with smoking as the prevalent risk factor.
The study included 316 patients with...
Mutation of a sarcomeric gene is the most frequent cause of hypertrophic cardiomyopathy. For each such gene, however, previous studies have reported a range of different mutation frequencies, and clinical manifestations have been highly heterogeneous, both of which limit the use of genetic information in clinical practice. Our aim was to determine...
Introduction and objectives
Mutation of a sarcomeric gene is the most frequent cause of hypertrophic cardiomyopathy. For each such gene, however, previous studies have reported a range of different mutation frequencies, and clinical manifestations have been highly heterogeneous, both of which limit the use of genetic information in clinical practic...
Introduction and objectives. Mutation of a sarcomeric gene is the most frequent cause of hypertrophic cardiomyopathy. For each such gene, however, previous studies have reported a range of different mutation frequencies, and clinical manifestations have been highly heterogeneous, both of which limit the use of genetic information in clinical practi...
Sudden death during sports activities, although unfrequent, is a tragic event with great impact on both the general and medical communities. The two commonest conditions leading to sudden cardiac death in young athletes are hyperthrophic cardiomyopathy (HCM), the main cause in the USA, and arrythmogenic right ventricular cardiomyopathy, which is th...
Cyclophilin A is secreted by vascular smooth muscle cells in response to inflammatory stimuli, and could thus contribute to atherosclerosis. We hypothesized that the genetic variation at the cyclophilin A gene (PPIA) could affect the risk for developing atherosclerosis and myocardial infarction. This study included 250 myocardial infarction patient...
We have read with great interest the article by Pellicia et al. about prevalence of abnormal ECG in a large, unselected population undergoing pre-participation cardiovascular screening and also read the Editorial by Corrado and Mckenna. As it is known, implementation of 12-lead ECG in the pre-participation screening programme has been a complex are...
Mitochondrial transcription factors mtTFA, mtTFB1 and mtTFB2 are required for the replication of mitochondrial DNA (mtDNA), regulating the number of mtDNA copies. Mice with a mtTFA deletion showed a reduced number of mtDNA copies, a reduction in respiratory chain activity, and a characteristic dilated cardiomyopathy. DNA variants in these genes cou...
Mitochondrial function is absolutely necessary to supply the energy required for muscles, and germ line mutations in mitochondrial genes have been related with impaired cardiac function and exercise intolerance. In addition, alleles at several polymorphic sites in mtDNA define nine common haplogroups, and some of these haplogroups have been implica...
We sequenced the coding exons of the cardiac troponins T (TNNT2) and I (TNNI3) genes in 115 Spanish HCM-patients (32% with a family history of the disease). Only two (2%) had mutations in the TNNT2 (Arg278>Cys and Arg92>Lys). These mutations were associated with variable clinical outcomes. No patient had TNNI3-mutation. We also genotyped these pati...
Our objective was to analyse the role of endothelin1 gene (EDN1) variation in essential left ventricular hypertrophy (LVH). We searched for EDN1 variants in 145 Spanish patients with an essential form of LVH (not secondary to hypertension, aortic stenosis, or any other disease that could explain the hypertrophy). The five EDN1 coding exons and 1.5...
Arachidonate 5-lipoxygenase is an enzyme encoded by the ALOX5 gene, and plays an important role in the synthesis of leukotrienes. These are inflammatory mediators, and have been involved in atherosclerosis and other pathological processes that require proinflammatory activities. Human and animal studies have suggested a role for the ALOX5 gene in a...
Atherosclerosis is characterized by excessive proliferation of neointimal leukocytes and vascular smooth muscle cells (VSMCs). In mice, the manipulation of cell cycle inhibitors such as CDKN1B (p27) and CDKN1A (p21) modifies the risk of developing atherosclerosis. In humans, CDKN1A, CDKN1B and CDKN1C (p57) are differentially expressed in normal ver...
Mutations in mtDNA have been implicated in the development of hypertrophic cardiomyopathy (HCM), including cases from families with a maternal transmission. Alleles at several polymorphic sites in mtDNA define different haplogroups and some of these haplogroups have been involved in the risk of developing several diseases in which mitochondria shou...
High-density cholesterol (HDL) levels are affected by genetic influences and certain behaviors. Low levels of HDL-C are considered as an independent risk factor for premature coronary heart disease. In patients with Tangier disease, characterised by low HDL levels, mutations in the ATP binding cassette transporter have been described. We have analy...
A myocyte enhancer factor 2A (MEF2A) mutation that segregated with coronary artery disease/myocardial infarction (CAD/MI) in a large family has recently been described. Missense mutations in sporadic coronary artery disease patients were also reported. These data suggest that mutations in exons 7 and 11 of MEF2A cause CAD/MI, though the association...
Mutations in the cardiac myosin-binding protein C gene (MYBPC3) are responsible for up to 50% of familial cases with hypertrophic cardiomyopathy (HC). Compared to patients with mutations in other sarcomeric genes, patients with MYBPC3 mutations would have a milder form of the disease, with a lower incidence of sudden cardiac death. Because most of...
Excessive proliferation of vascular smooth muscle cells and leukocytes within the artery wall is a major event in the development of atherosclerosis. The growth suppressor p27kip1 associates with several cyclin-dependent kinase/cyclin complexes, thereby abrogating their capacity to induce progression through the cell cycle. Recent studies have impl...
We determined the prevalence of mutations considered malignant in the genes for beta-myosin heavy chain (MYH7, 11 mutations) and troponin T (TNNT2, 5 mutations) in 30 patients with hypertrophic cardiomyopathy aged 18 to 60 years, 83% of whom had familial antecedents of hypertrophic myocardiopathy or sudden death. Mutations were identified with poly...
The relationship between angiotensin-converting enzyme (ACE) gene polymorphism and several cardiovascular diseases such as myocardial infarction (MI) and its prognosis is controversial (1). In a recent issue of the Journal, Palmer et al. (2) conclude that ACE genotyping may provide additional prognosis information in pa-tients with MI. These findin...
We determined the prevalence of mutations considered malignant in the genes for beta-myosin heavy chain (MYH7, 11 mutations) and troponin T (TNNT2, 5 mutations) in 30 patients with hypertrophic cardiomyopathy aged 18 to 60 years, 83% of whom had familial antecedents of hypertrophic myocardiopathy or sudden death. Mutations were identified with poly...
A single nucleotide polymorphism (SNP) in chromosome Y has been associated with blood pressure. In men, the risk of suffering from cardiovascular diseases, including coronary artery disease, could be influenced by one or more loci on chromosome Y. We genotyped 208 men who had suffered an early episode of myocardial infarction (MI) (< or =55 years)...
Mutations in the cardiac beta-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes are reportedly responsible for up to 40% of familial cases with hypertrophic cardiomyopathy (HC). Although there are no mutational hotspots, most of the mutations are located in specific exons of the MYH7 and TNNT2 genes. Currently it is not possible to pre...
This study was designed to analyse possible associations between DNA polymorphisms in the 5-hydroxytryptamine (5-HT; serotonin) 5-HT(2A) receptor and the 5-HT transporter (5-HTT) genes, and myocardial infarction (MI). 5-HT has been shown to be involved in cardiovascular pathophysiology. In addition to platelet aggregation and vascular contraction,...
The lipoprotein receptor-related protein (LRP) is an endocytic receptor for several ligands, such as alpha2-macroglobulin (alpha2 M) and apolipoprotein E. LRP is involved in the clearance of lipids from the bloodstream and is expressed in the atherosclerotic plaque. The LRP-associated protein (LRPAP in humans, RAP in mice) acts as a chaperone prote...
DNA polymorphisms at the endothelium constitutive nitric oxide synthase gene (NOS3) have been linked to the risk of developing coronary artery disease (CAD). In vitro, a polymorphism in the 5' region of the NOS3 gene (-786 T/C) influences promoter activity. This polymorphism has been associated with coronary spasms among Japanese. The genetic varia...
In order to determine the role of two polymorphisms in the factor VII gene (R353Q and intron 7 hypervariable region) in the susceptibility to develop early myocardial infarction, a total of 175 patients with acute myocardial infarction aged 50 years or less (mean age 41+/-7 years) and 200 controls (average age 42+/-6) without cardiovascular disease...
Patients with heart failure in our community are diffent from cohorts studied in large-scale, multicenter, randomized trials (i.e., patients with heart failure referred to specialized centers). Clinical heart failure with an ejection fraction >50% plus abnormal diastolic function, which in most cases is difficult to establish, implies diastolic hea...
Our objective was to examine the association between myocardial infarction (MI) and two DNA-polymorphisms at the proinflammatory chemokine receptors CCR2 (I64V) and CCR5 (32 bp deletion, (Delta)ccr5), defining if these polymorphisms influence the age for the onset of MI. A total of 214 patients with an age at the first MI episode <55 years, 96 pati...
We have read with interest the article by Frikke-Schmidt et al. [(1)][1], which concludes that male carriers of the Apo E epsilon43 and epsilon44 genotypes are particularly susceptible to ischemic heart disease.
We studied 220 men younger than 50 years of age (mean age 43 ± 5 years; range 26 to 50
Several studies based on different populations worldwide have described an association between cardiovascular diseases and genetic variations in the apolipoprotein E (A:POE), angiotensinogen (A:GT), angiotensin receptor type 1 (A:T1R), and angiotensin-converting enzyme (A:CE) genes. In addition, there is growing evidence of an interaction between h...
Citations
... All patients who agreed to participate signed the informed consent for genetic testing (local Institutional Ethical Committee approval, CEImPA 2022.254). DNA was obtained from peripheral blood, and NGS analysis was performed, as reported elsewhere [22][23][24][25][26]. The NGS cardiovascular panel provided in our institution was designed with the aim of optimizing economic resources, attempting to be both time effective and cost effective. ...
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... Mutations in this gene can lead to long QT syndrome type 2 (LQT2) 42 . A recent study has identified KCNH2 p.Gly262AlafsTer98 as a novel pathogenic variant associated with long QT syndrome in a Spanish population 43 . In a separate study, it was found that KCNH2 mutations cause fetal biventricular densified cardiomyopathy with pulmonary stenosis and bradycardia 44 . ...
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... (28)(29)(30) Genomic imprinting The methylation level of the long non-coding RNA KCNQ1OT1, which is related to a prolonged QTC interval, affects the expression of the imprinted gene KCNQ1 and may contribute to female predominance and transmission distortion in LQTS. (31)(32)(33) Three-dimensional (3D) genome architecture ...
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... All patients who agreed to participate signed the informed consent for genetic testing (local Institutional Ethical Committee approval, CEImPA 2022.254). DNA was obtained from peripheral blood, and NGS analysis was performed, as reported elsewhere [22][23][24][25][26]. The NGS cardiovascular panel provided in our institution was designed with the aim of optimizing economic resources, attempting to be both time effective and cost effective. ...
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... Real prevalence of LVNC is unknown. Reported prevalence varies from 0.014 to 1.3% [29][30][31][32][33][34][35]. Differences frequencies were evaluated with the Chi-square test, and continuous variables were compared with the Student's t-test. ...
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... Positive family history was defined as at least 1 first-or second-degree relative who had sudden unexplained death, sudden cardiac death (SCD), or sudden cardiac arrest or as defined in each study (Table). [12][13][14][15][16][17][18][19][20][21][22][23][24][25][26][27][28][29][30][31] ...
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... NRF2 acts to decrease the expression of pro-inflammatory cytokines such as vascular cell adhesion molecule-1 (VCAM-1), monocyte chemoattractant protein-1 (MCP-1), and tumor necrosis factor-alpha (TNF-α), interferon-gamma (IFN-γ), and some interleukins, all involved in atherosclerosis. Understanding this intricate interaction is essential to unravel the inflammatory mechanisms involved in the pathogenesis of CAD and develop more specific therapeutic interventions [56][57][58]. ...
... [48], H19 is a bona fide example of genomic imprinting, an epigenetic phenomenon that determines gene expression based on the sex of the parent from whom the gene is passed on to the offspring. It is interesting that only the maternal copy of H19 is expressed in human cells because the paternal copy is usually silenced by the methylation of CpG sites occurring at its promoter [49]. Having been implicated in both tumor suppression and oncogenesis, H19 is generally regarded as an oncogene because it is upregulated in a number of malignancies such as breast cancer [47] and gastric carcinoma [48]. ...
... Previous research revealed that lncRNA H19 is an independent risk factor for T2DM. Increased renal indicators (urea, creatinine, and UACR) and nephropathy are more frequently linked to H19 expression (170,171). In addition, the discovery that metformin, a first-line therapy for type 2 diabetes, might lessen kidney damage through downregulating lncRNA H19, and therefore DKD, offers another direction for our investigation of the potential of metformin for treating DKD. ...
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... Meanwhile, next generation sequencing (NGS) has revolutionized the study of the genetic basis of heritable diseases andexome sequencing has proven to be an extremely useful tool for identifying new genes associated with various pathologies; however, in around 40-60% of HCM cases, the causal pathogenic variant is not identified, including cases with a family history of the disease. Most pathogenic variants are associated with clinical heterogeneity, incomplete penetrance, and variable phenotypic expressiveness, including carriers in the same family [4]. Studies suggest that there are other genetic factors that could partially explain the risk of developing HCM or modify the phenotype among carriers anda group of candidate genes to be evaluated are those that encode long-non-coding RNAs (lncRNAs), whose variation escapes the informatics prediction tools applicable to the exome. ...
