Abstract:
BACKGROUND:Pulmonary arterial hypertension (PAH) is a rare vascular disorder characterized by a capillary wedge pressure ≤ 15 mmHg and a mean pulmonary arterial pressure ≥ 25 mmHg at rest. PAH can be idiopathic, heritable or associated with other conditions. The aim of this study was to analyze the Endoglin (ENG) gene and assess the influence of the c.572G > A (p.G191D) mutation in patients with idiopathic or associated PAH. The correlation between the pathogenic mutations and clinical and functional parameters was further analyzed. RESULTS:Sixteen different changes in the ENG gene were found in 44 out of 57 patients. After in silico analysis, we classified eight mutations as pathogenic in 16 of patients. The c.572G>A (p.G191D) variation was observed in ten patients, and the analysis for the splicing process using hybrid minigenes, with pSPL3 vector to assess splicing alterations, do not generate a new transcript. Age at diagnosis (p = 0.049) and the 6-min walking test (p = 0.041) exhibited statistically significant differences between carriers and non-carriers of pathogenic mutations. Patients with pathogenic mutations exhibited disease symptoms 8 years before non-carriers. Five patients with pathogenic mutations were carriers of another mutation in the BMPR2 or ACVRL1 genes. CONCLUSIONS:We present a series of PAH patients with mutations in the ENG gene, some of them not previously described, exhibiting clinical and hemodynamic alterations suggesting that the presence of these mutations may be associated with the severity of the disease. Moreover, genetic analysis in patients with PAH may be of clinical relevance and indicates the complexity of the genetic background.
journal_name
BMC Genetjournal_title
BMC geneticsauthors
Pousada G,Baloira A,Fontán D,Núñez M,Valverde Ddoi
10.1186/s12863-016-0384-3subject
Has Abstractpub_date
2016-06-04 00:00:00pages
72issue
1issn
1471-2156pii
10.1186/s12863-016-0384-3journal_volume
17pub_type
杂志文章相关文献
BMC GENETICS文献大全abstract:BACKGROUND:DNA methylation is an epigenetic modification that mainly repress expression of genes essential during embryogenesis and development. There are key ATPase-dependent enzymes that read or write DNA methylation to remodel chromatin and regulate gene expression. Structural maintenance of chromosome hinge domain ...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-020-0809-x
更新日期:2020-01-15 00:00:00
abstract:BACKGROUND:Arterial stiffness is an independent predictor of cardiovascular outcomes in hypertensive patients including myocardial infarction, fatal stroke, cerebral micro-bleeds which predicts cerebral hemorrhage in hypertensive patients, as well as progression to hypertension in non-hypertensive subjects. The associa...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-015-0324-7
更新日期:2016-01-11 00:00:00
abstract:BACKGROUND:Body size traits as one of the main breeding selection criteria was widely used to monitor cattle growth and to evaluate the selection response. In this study, body size was defined as body height (BH), body length (BL), hip height (HH), heart size (HS), abdominal size (AS), and cannon bone size (CS). We per...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-020-0837-6
更新日期:2020-03-14 00:00:00
abstract:BACKGROUND:Spotted wilt caused by tomato spotted wilt virus (TSWV) is one of the major peanut (Arachis hypogaea L.) diseases in the southeastern United States. Occurrence, severity, and symptoms of spotted wilt disease are highly variable from season to season, making it difficult to efficiently evaluate breeding popul...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-016-0435-9
更新日期:2016-09-06 00:00:00
abstract:BACKGROUND:Questions remain regarding the utility of self-reported ethnicity (SRE) in genetic and epidemiologic research. It is not clear whether conditioning on SRE provides adequate protection from inflated type I error rates due to population stratification and admixture. We address this question using data obtained...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-12-28
更新日期:2011-03-04 00:00:00
abstract::Three variants of the confidence set inference (CSI) procedure were proposed and applied to both the simulated and the Collaborative Study on the Genetics of Alcoholism (COGA) data. For each of the two applications, we first performed a preliminary genome scan study based on the microsatellite markers using the GENEHU...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-6-S1-S21
更新日期:2005-12-30 00:00:00
abstract:BACKGROUND:Wheat leaf rust is an important disease worldwide. Understanding the pathogenic molecular mechanism of Puccinia triticina Eriks. (Pt) and the inconstant toxic region is critical for managing the disease. The present study aimed to analyze the pathogenic divergence between Pt isolates. RESULTS:Total RNA was ...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-020-00851-5
更新日期:2020-04-28 00:00:00
abstract:BACKGROUND:India is home to many ethnically and linguistically diverse populations. It is hypothesized that history of invasions by people from Persia and Central Asia, who are referred as Aryans in Hindu Holy Scriptures, had a defining role in shaping the Indian population canvas. A shift in spoken languages from Drav...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-15-86
更新日期:2014-07-22 00:00:00
abstract:BACKGROUND:This study aimed to explore the molecular mechanism of estrogen-mediated neuroprotection in the relief of cerebral ischemic injury. The gene expression profiles were downloaded from Gene Expression Omnibus database, and differentially expressed genes (DEGs) were identified using limma package in R software. ...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-018-0630-y
更新日期:2018-07-20 00:00:00
abstract:BACKGROUND:Genomic selection exploits dense genome-wide marker data to predict breeding values. In this study we used a large sugar beet population of 924 lines representing different germplasm types present in breeding populations: unselected segregating families and diverse lines from more advanced stages of selectio...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-14-85
更新日期:2013-09-18 00:00:00
abstract:BACKGROUND:Linkage disequilibrium (LD) mapping is commonly used to evaluate markers for genome-wide association studies. Most types of LD software focus strictly on LD analysis and visualization, but lack supporting services for genotyping. RESULTS:We developed a freeware called LD2SNPing, which provides a complete pa...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-10-26
更新日期:2009-06-06 00:00:00
abstract::Complex diseases are often reported along with disease-related traits (DRT). Sometimes investigators consider both disease and DRT phenotypes separately and sometimes they consider individuals as affected if they have either the disease or the DRT, or both. We propose instead to consider the joint distribution of the ...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-6-S1-S113
更新日期:2005-12-30 00:00:00
abstract:BACKGROUND:RNA sequencing (RNA-seq) technology has identified multiple differentially expressed (DE) genes associated to complex disease, however, these genes only explain a modest part of variance. Omnigenic model assumes that disease may be driven by genes with indirect relevance to disease and be propagated by funct...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-019-0739-7
更新日期:2019-03-19 00:00:00
abstract:BACKGROUND:Sesame (Sesamum indicum L.) is one of the four major oil crops in China. A sesame core collection (CC) was established in China in 2000, but no complete study on its genetic diversity has been carried out at either the phenotypic or molecular level. To provide technical guidance, a theoretical basis for furt...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-13-102
更新日期:2012-11-15 00:00:00
abstract:BACKGROUND:Gene identification and sequence determination are critical requirements for many biological, genomic, and bioinformatic studies. With the advent of next generation sequencing (NGS) technologies, such determinations are predominantly accomplished in silico for organisms for which the genome is known or for w...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-14-55
更新日期:2013-06-18 00:00:00
abstract:BACKGROUND:There have been inconsistent results from case-control studies assessing the association of the PON1 Q192R polymorphism with coronary heart disease (CHD). Most studies have included predominantly men and the association in women is unclear. Since lipid levels vary between the sexes the antioxidant effect of ...
journal_title:BMC genetics
pub_type: 杂志文章,meta分析,评审
doi:10.1186/1471-2156-5-17
更新日期:2004-06-23 00:00:00
abstract::The study of change in intermediate phenotypes over time is important in genetics. In this paper we explore a new approach to phenotype definition in the genetic analysis of longitudinal phenotypes. We utilized data from the longitudinal Framingham Heart Study Family Cohort to investigate the familial aggregation and ...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-4-S1-S12
更新日期:2003-12-31 00:00:00
abstract:BACKGROUND:Genotyping technologies enable us to genotype multiple Single Nucleotide Polymorphisms (SNPs) within selected genes/regions, providing data for haplotype association analysis. While haplotype-based association analysis is powerful for detecting untyped causal alleles in linkage-disequilibrium (LD) with neigh...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-9-90
更新日期:2008-12-22 00:00:00
abstract:BACKGROUND:The disease gene of fragile X syndrome, FMR1 gene, encodes fragile X mental retardation protein (FMRP). The alternative splicing (AS) of FMR1 can affect the structure and function of FMRP. However, the biological functions of alternatively spliced isoforms remain elusive. In a previous study, we identified a...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-020-00870-2
更新日期:2020-06-18 00:00:00
abstract:BACKGROUND:Root is the prime organ that sucks water and nutrients from deep layer of soil. Wild barley diversity exhibits remarkable variation in root system architecture that seems crucial in its adaptation to abiotic stresses like drought. In the present study, we performed quantitative trait locus (QTL) mapping of r...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-014-0107-6
更新日期:2014-10-07 00:00:00
abstract:BACKGROUND:The establishment of the bisexual fertile fish hybrid lineage including the allodiploid and allotetraploid hybrids, from interspecific hybridization of red crucian carp (Carassius auratus red var. 2n = 100, 2n = AA) (♀) × common carp (Cyprinus carpio L. 2n = 100, 2n = BB) (♂), provided a good platform to inv...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-015-0295-8
更新日期:2015-12-03 00:00:00
abstract:BACKGROUND:Neutrophil cytosolic factor-1 (NCF1) is a component of NADPH oxidase. The NCF1 gene colocalizes with two pseudogenes (NCF1B and NCF1C). These two pseudogenes have a GT deletion in exon 2, resulting in a frameshift and an early stop codon. Here, we report a copy number variation (CNV) of the NCF1 pseudogenes ...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-11-13
更新日期:2010-02-23 00:00:00
abstract:BACKGROUND:Cockerham genetic models are commonly used in quantitative trait loci (QTL) analysis with a special feature of partitioning genotypic variances into various genetic variance components, while the F(infinity) genetic models are widely used in genetic association studies. Over years, there have been some confu...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-10-52
更新日期:2009-09-04 00:00:00
abstract:BACKGROUND:Myanmar cattle populations predominantly consist of native cattle breeds (Pyer Sein and Shwe), characterized by their geographical location and coat color, and the Holstein-Friesian crossbreed, which is highly adapted to the harsh tropical climates of this region. Here, we analyzed the diversity and genetic ...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-020-00905-8
更新日期:2020-09-01 00:00:00
abstract:BACKGROUND:Marbling score (MS) is the major quantitative trait that affects carcass quality in beef cattle. In this study, we examined the association between genetic polymorphisms of the micromolar calcium-activated neutral protease gene (micro-calpain, CAPN1) and carcass traits in Korean cattle (also known as Hanwoo)...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-9-33
更新日期:2008-04-19 00:00:00
abstract:BACKGROUND:The human Prader-Willi syndrome (PWS) domain and its mouse orthologue include a cluster of paternally expressed genes which imprinted expression is co-ordinately regulated by an imprinting center (IC) closely associated to the Snurf-Snrpn gene. Besides their co-regulated imprinted expression, two observation...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-6-1
更新日期:2005-01-05 00:00:00
abstract::This study, part of the Genetic Analysis Workshop 14 (GAW14), explored real Collaborative Study on the Genetics of Alcoholism data for linkage and association mapping between genetic polymorphisms (microsatellite and single-nucleotide polymorphisms (SNPs)) and beta (16.5-20 Hz) oscillations of the brain rhythms (ecb21...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-6-S1-S94
更新日期:2005-12-30 00:00:00
abstract:BACKGROUND:Numerous studies have attempted to relate genetic polymorphisms within the N-acetyltransferase 2 gene (NAT2) to interindividual differences in response to drugs or in disease susceptibility. However, genotyping of individuals single-nucleotide polymorphisms (SNPs) alone may not always provide enough informat...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-6-30
更新日期:2005-06-02 00:00:00
abstract:BACKGROUND:In cross breeding, it is important to choose a good parental combination that has high probability of generating offspring with desired characteristics. This study examines a method for predicting the segregation of target traits in a progeny population based on genome-wide markers and phenotype data of pare...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-14-81
更新日期:2013-09-12 00:00:00
abstract::We present a new method for fine-mapping a disease susceptibility locus using a case-control design. The new method, termed the weighted average (WA) statistic, averages the Cochran-Armitage (CA) trend test statistic and the difference between the Hardy-Weinberg disequilibrium test statistic for cases and controls (th...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-6-S1-S67
更新日期:2005-12-30 00:00:00