Abstract:
Purpose:Next-generation sequencing (NGS) has become more accessible, leading to an increasing number of genetic studies of familial bradycardia being reported. However, most of the variants lack full evaluation. The relationship between genetic factors and bradycardia should be summarized and reevaluated. Methods:We summarized genetic studies published in the PubMed database from 2008/1/1 to 2019/9/1 and used the ACMG/AMP classification framework to analyze related sequence variants. Results:We identified 88 articles, 99 sequence variants, and 34 genes after searching the PubMed database and classified ABCC9, ACTN2, CACNA1C, DES, HCN4, KCNQ1, KCNH2, LMNA, MECP2, LAMP2, NPPA, SCN5A, and TRPM4 as high-priority genes causing familial bradycardia. Most mutated genes have been reported as having multiple clinical manifestations. Conclusions:For patients with familial CCD, 13 high-priority genes are recommended for evaluation. For genetic studies, variants should be carefully evaluated using the ACMG/AMP variant classification framework before publication.
journal_name
Int J Genomicsjournal_title
International journal of genomicsauthors
Cheng L,Li X,Zhao L,Wang Z,Zhang J,Liang Z,Wu Ydoi
10.1155/2020/2415850subject
Has Abstractpub_date
2020-02-25 00:00:00pages
2415850eissn
2314-436Xissn
2314-4378journal_volume
2020pub_type
杂志文章abstract::Epigenetic regulation plays important biological roles in plants, including timing of flowering and endosperm development. Little is known about the mechanisms controlling heterochrony (the change in the timing or rate of developmental events during ontogeny) in Eucalyptus globulus. DNA methylation has been proposed a...
journal_title:International journal of genomics
pub_type: 杂志文章
doi:10.1155/2016/4395153
更新日期:2016-01-01 00:00:00
abstract::Inflorescence represents the highly specialized plant tissue producing the grains. Although key genes regulating flower initiation and development are conserved, the mechanism regulating fertility is still not well explained. To identify genes and gene network underlying inflorescence morphology and fertility of bread...
journal_title:International journal of genomics
pub_type: 杂志文章
doi:10.1155/2018/6897032
更新日期:2018-02-08 00:00:00
abstract::Puberty is a transition period where a child transforms to an adult. Puberty can be affected by various genetic factors and environmental influences. In mammals, the regulation of puberty is enhanced by the hypothalamic-pituitary-gonadal axis (HPG axis). A number of genes such as GnRH, Kiss1, and GPR54 have been repor...
journal_title:International journal of genomics
pub_type: 杂志文章
doi:10.1155/2020/1426761
更新日期:2020-05-22 00:00:00
abstract::The urinary metabolomic study based on gas chromatography-mass spectrometry (GC-MS) had been developed to investigate the possible antidepressant mechanism of chlorogenic acid (CGA) in a rat model of sleep deprivation (SD). According to pattern recognition analysis, there was a clear separation among big platform grou...
journal_title:International journal of genomics
pub_type: 杂志文章
doi:10.1155/2018/1361402
更新日期:2018-02-11 00:00:00
abstract::Identifying differentially variable (DV) genomic probes is becoming a new approach to detect novel genomic risk factors for complex human diseases. The F test is the standard equal-variance test in statistics. For high-throughput genomic data, the probe-wise F test has been successfully used to detect biologically rel...
journal_title:International journal of genomics
pub_type: 杂志文章
doi:10.1155/2018/6591634
更新日期:2018-07-12 00:00:00
abstract::Taxol is one of the most potent and effective anticancer drugs and is originally isolated from Taxus species. To investigate the specific regulatory mechanisms of taxol synthesis in Taxus wallichiana var. mairei, RNA-seq was conducted to reveal the differences in transcriptional levels between wild type (WT) and "Jinx...
journal_title:International journal of genomics
pub_type: 杂志文章
doi:10.1155/2019/1596895
更新日期:2019-05-02 00:00:00
abstract::In recent years the human microbiome has become a growing area of research and it is becoming clear that the microbiome of humans plays an important role for human health. Extensive research is now going into cataloging and annotating the functional role of the human microbiome. The ability to explore and describe the...
journal_title:International journal of genomics
pub_type: 杂志文章,评审
doi:10.1155/2016/5304028
更新日期:2016-01-01 00:00:00
abstract::Cancer is a multistep process characterized by various and different genetic lesions which cause the transformation of normal cells into tumor cells. To preserve the genomic integrity, eukaryotic cells need a complex DNA damage/repair response network of signaling pathways, involving many proteins, able to induce cell...
journal_title:International journal of genomics
pub_type: 杂志文章,评审
doi:10.1155/2014/820248
更新日期:2014-01-01 00:00:00
abstract:Background:Chronic kidney disease (CKD) is characterized by progressive renal function loss, which may finally lead to end-stage renal disease (ESRD). The study is aimed at identifying crucial genes related to CKD progressive and constructing a disease prediction model to investigate risk factors. Methods:GSE97709 and...
journal_title:International journal of genomics
pub_type: 杂志文章
doi:10.1155/2020/7524057
更新日期:2020-11-12 00:00:00
abstract::Goat plays a crucial role in human livelihoods, being a major source of meat, milk, fiber, and hides, particularly under adverse climatic conditions. The goat genomics related to the candidate gene approach is now being used to recognize molecular mechanisms that have different expressions of growth, reproductive, mil...
journal_title:International journal of genomics
pub_type: 杂志文章,评审
doi:10.1155/2020/5940205
更新日期:2020-08-18 00:00:00
abstract::miRNAs are a class of noncoding RNAs important in posttranscriptional repressors and involved in the regulation of almost every biological process by base paring with target genes through sequence in their seed regions. Genetic variations in the seed regions have vital effects on gene expression, phenotypic variation,...
journal_title:International journal of genomics
pub_type: 杂志文章
doi:10.1155/2018/2456076
更新日期:2018-03-06 00:00:00
abstract::Osteoporosis is a serious public health issue, which is mostly characterized by low bone mineral density (BMD). To search for additional genetic susceptibility loci underlying BMD variation, an effective strategy is to focus on testing of specific variants with high potential of functional effects. Single nucleotide p...
journal_title:International journal of genomics
pub_type: 杂志文章
doi:10.1155/2018/6407257
更新日期:2018-08-07 00:00:00
abstract::Rheumatoid arthritis (RA) is an autoimmune disease characterized by the presence of antibodies against cyclic citrullinated peptide (anti-CCP), a consequence of the breakdown of immune tolerance. The lymphoid tyrosine phosphatase (Lyp) protein has significant effects on maintenance of peripheral immune tolerance. Two ...
journal_title:International journal of genomics
pub_type: 杂志文章
doi:10.1155/2017/8753498
更新日期:2017-01-01 00:00:00
abstract::Arabidopsis thaliana (L.) Heynh. is a model organism of plant molecular biology. More than 1,700 whole genome sequences have been sequenced, but no Korean isolate genomes have been sequenced thus far despite the fact that many A. thaliana isolated in Japan and China have been sequenced. To understand the genetic backg...
journal_title:International journal of genomics
pub_type: 杂志文章
doi:10.1155/2020/3236461
更新日期:2020-09-05 00:00:00
abstract::Orobanche crenata is a parasitic weed that causes considerable yield losses on food legumes in Ethiopia and the Mediterranean region. Understanding the genetic diversity of Orobanche crenata using molecular techniques generate useful information in managing the weed through resistance breeding. This study aimed at ass...
journal_title:International journal of genomics
pub_type: 杂志文章
doi:10.1155/2020/3202037
更新日期:2020-08-13 00:00:00
abstract::A population of 146 RILs (Recombinant Inbred Line) was derived from the cross between a cold-sensitive cultivated Solanum lycopersicum L. XF98-7 and a cold-tolerant wild Solanum pimpinellifolium LA2184. Relative germination ratio (RGR) and chilling index (CI) were used to evaluate the cold tolerance of the parental li...
journal_title:International journal of genomics
pub_type: 杂志文章
doi:10.1155/2016/3219276
更新日期:2016-01-01 00:00:00
abstract::High throughput genomic assays empower us to study the entire human genome in short time with reasonable cost. Formalin fixed-paraffin-embedded (FFPE) tissue processing remains the most economical approach for longitudinal tissue specimen storage. Therefore, the ability to apply high throughput genomic applications to...
journal_title:International journal of genomics
pub_type: 杂志文章,评审
doi:10.1155/2017/1926304
更新日期:2017-01-01 00:00:00
abstract::We characterized the male-specific region on the Y chromosome of rainbow trout, which contains both sdY (the sex-determining gene) and the male-specific genetic marker, OmyY1. Several clones containing the OmyY1 marker were screened from a BAC library from a YY clonal line and found to be part of an 800 kb BAC contig....
journal_title:International journal of genomics
pub_type: 杂志文章
doi:10.1155/2013/261730
更新日期:2013-01-01 00:00:00
abstract::In general, mutation frequencies are context-dependent: specific adjacent nucleotides may influence the probability to observe a specific type of mutation in a genome. Recently, several hypermutable motifs were identified in the human genome. Namely, there is an increased frequency of T>C mutations in the second posit...
journal_title:International journal of genomics
pub_type: 杂志文章
doi:10.1155/2013/173616
更新日期:2013-01-01 00:00:00
abstract::The purpose of this work was to study changes in the level of cell-free DNA (cfDNA) in the blood of young and old rats in the normal state and with induced benign prostatic hyperplasia (BPH). Male Wistar rats were divided into 4 groups-young (3 months), old (20 months), intact, or with testosterone-induced BPH. Groups...
journal_title:International journal of genomics
pub_type: 杂志文章
doi:10.1155/2019/8173630
更新日期:2019-06-02 00:00:00
abstract::Auxin response factors (ARFs) have been reported to play vital roles during plant growth and development. In order to reveal specific functions related to vegetative organs in grasses, an in-depth study of the ARF gene family was carried out in switchgrass (Panicum virgatum L.), a warm-season C4 perennial grass that i...
journal_title:International journal of genomics
pub_type: 杂志文章
doi:10.1155/2018/7658910
更新日期:2018-04-29 00:00:00
abstract::To explore heat response mechanisms of mircoRNAs (miRNAs) in rice post-meiosis panicle, microarray analysis was performed on RNA isolated from rice post-meiosis panicles which were treated at 40°C for 0 min, 10 min, 20 min, 60 min, and 2 h. By integrating paired differentially expressed (DE) miRNAs and mRNA expression...
journal_title:International journal of genomics
pub_type: 杂志文章
doi:10.1155/2020/7582612
更新日期:2020-09-17 00:00:00
abstract:Purpose:Airway epithelium acts as a protective barrier against the particles from the inhaled air. Damage to the epithelium may result in loss of the barrier function. Epithelial repair in response to injury requires complex mechanisms, such as microRNA, small noncoding molecules, to regulate the processes involved in ...
journal_title:International journal of genomics
pub_type: 杂志文章
doi:10.1155/2018/9093785
更新日期:2018-09-05 00:00:00
abstract::TSEN54 encodes a subunit of the tRNA-splicing endonuclease complex, which catalyzes the identification and cleavage of introns from precursor tRNAs. Previously, we identified an AluSx-derived alternative transcript in TSEN54 of cynomolgus monkey. Reverse transcription-polymerase chain reaction (RT-PCR) amplification a...
journal_title:International journal of genomics
pub_type: 杂志文章
doi:10.1155/2016/1679574
更新日期:2016-01-01 00:00:00
abstract::Rice grain shape and nutritional quality traits have high economic value for commercial production of rice and largely determine the market price, besides influencing the global food demand for high-quality rice. In order to understand the genetic components of grain appearance traits in paddy, brown, and head rice, 1...
journal_title:International journal of genomics
pub_type: 杂志文章
doi:10.1155/2019/3160275
更新日期:2019-02-25 00:00:00
abstract::Severe gastroenteritis and foodborne illness caused by Noroviruses (NoVs) during the winter are a worldwide phenomenon. Vulnerable populations including young children and elderly and immunocompromised people often require hospitalization and may die. However, no efficient vaccine for NoVs exists because of their vari...
journal_title:International journal of genomics
pub_type: 杂志文章
doi:10.1155/2013/456356
更新日期:2013-01-01 00:00:00
abstract::Currently, protein interaction of Homo sapiens nucleotide binding domain (NBD) of heat shock 70 kDa protein (PDB: 1HJO) with p53 motif remains to be elucidated. The NBD-p53 motif complex enhances the p53 stabilization, thereby increasing the tumor suppression activity in cancer treatment. Therefore, we identified the ...
journal_title:International journal of genomics
pub_type: 杂志文章
doi:10.1155/2015/391293
更新日期:2015-01-01 00:00:00
abstract::The HIV-1 virus (human immunodeficiency virus) affects 36.9 million people worldwide, with approximately 900000 deaths in 2017. The virus carrier can develop severe immunodeficiency since CD4+ T lymphocytes are the main target, leading to acquired immunodeficiency syndrome (AIDS). Despite advances in pharmacological t...
journal_title:International journal of genomics
pub_type: 杂志文章,评审
doi:10.1155/2019/8458263
更新日期:2019-08-21 00:00:00
abstract::The yellow color of inner leaves in Chinese cabbage depends on its lutein and carotene content. To identify responsible genes for yellow pigmentation in leaves, the transcriptome profiles of white (Kenshin) and yellow leaves (Wheessen) were examined using the Br300K oligomeric chip in Chinese cabbage. In yellow leaves...
journal_title:International journal of genomics
pub_type: 杂志文章
doi:10.1155/2014/204969
更新日期:2014-01-01 00:00:00
abstract::We screened bacteria that use E2 as its sole source of carbon and energy for growth and identified them as Rhodococcus, and we named them DSSKP-R-001. For a better understanding of the metabolic potential of the strain, whole genome sequencing of Rhodococcus DSSKP-R-001 and annotation of the functional genes were perf...
journal_title:International journal of genomics
pub_type: 杂志文章
doi:10.1155/2018/3505428
更新日期:2018-10-28 00:00:00