Abstract:
:The p.R577X polymorphism (rs1815739) in the ACTN3 gene causes individuals with the ACTN3 XX genotype to be deficient in functional α-actinin-3. Previous investigations have found that XX athletes are more prone to suffer non-contact muscle injuries. This investigation aimed to determine the influence of the ACTN3 R577X polymorphism in the injury epidemiology of elite endurance athletes. Using a cross-sectional experiment, the epidemiology of running-related injuries was recorded for one season in a group of 89 Spanish elite endurance runners. ACTN3 R577X genotype was obtained for each athlete using genomic DNA samples. From the study sample, 42.7% of athletes had the RR genotype, 39.3% had the RX genotype, and 18.0% had the XX genotype. A total of 96 injuries were recorded in 57 athletes. Injury incidence was higher in RR runners (3.2 injuries/1000 h of running) than in RX (2.0 injuries/1000 h) and XX (2.2 injuries/1000 h; p = 0.030) runners. RR runners had a higher proportion of injuries located in the Achilles tendon, RX runners had a higher proportion of injuries located in the knee, and XX runners had a higher proportion of injuries located in the groin (p = 0.025). The ACTN3 genotype did not affect the mode of onset, the severity, or the type of injury. The ACTN3 genotype slightly affected the injury epidemiology of elite endurance athletes with a higher injury rate in RR athletes and differences in injury location. However, elite ACTN3 XX endurance runners were not more prone to muscle-type injuries.
journal_name
Genes (Basel)journal_title
Genesauthors
Gutiérrez-Hellín J,Baltazar-Martins G,Aguilar-Navarro M,Ruiz-Moreno C,Oliván J,Del Coso Jdoi
10.3390/genes12010076subject
Has Abstractpub_date
2021-01-08 00:00:00issue
1issn
2073-4425pii
genes12010076journal_volume
12pub_type
杂志文章相关文献
Genes文献大全abstract::The complete mutational spectrum of dystrophinopathies and limb-girdle muscular dystrophy (LGMD) remains unknown in Mexican population. Seventy-two unrelated Mexican male patients (73% of pediatric age) with clinical suspicion of muscular dystrophy and no evidence of DMD gene deletion on multiplex polymerase chain rea...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes10110856
更新日期:2019-10-29 00:00:00
abstract::Roan (Rn) horses show a typical seasonal change of color. Their body is covered with colored and white hair. We performed a descriptive statistical analysis of breeding records of Icelandic horses to challenge the hypothesis of roan being lethal in utero under homozygous condition. The roan to non-roan ratio of foals ...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11060680
更新日期:2020-06-22 00:00:00
abstract::Meat eating quality with a healthy composition hinges on intramuscular fat (IMF), fat melting point (FMP), tenderness, juiciness, flavour and omega-3 long-chain polyunsaturated fatty acids (n-3 LC-PUFA) content. These health-beneficial n-3 LC-PUFA play significant roles in optimal cardiovascular, retinal, maternal and...
journal_title:Genes
pub_type: 杂志文章,评审
doi:10.3390/genes11050587
更新日期:2020-05-25 00:00:00
abstract::This study investigated the effects of dietary terrestrial animal and plant proteins on the intestinal transcriptomes of yellowtail kingfish (YTK), Seriola lalandi, an ecologically and economically important marine species in Australia. Five diets containing fish meal (FM), poultry by-product meal (PBM), blood meal (B...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11060621
更新日期:2020-06-05 00:00:00
abstract::coalescence methods have emerged as a popular alternative for inferring species trees with large genomic datasets, because these methods explicitly account for incomplete lineage sorting. However, statistical consistency of summary coalescence methods is not guaranteed unless several model assumptions are true, includ...
journal_title:Genes
pub_type: 杂志文章,评审
doi:10.3390/genes9030123
更新日期:2018-02-26 00:00:00
abstract::Prader⁻Willi syndrome (PWS) is a complex genetic disorder that, besides cognitive impairments, is characterized by hyperphagia, obesity, hypogonadism, and growth impairment. Proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency, a rare recessive congenital disorder, partially overlaps phenotypically with PW...
journal_title:Genes
pub_type: 杂志文章,评审
doi:10.3390/genes9060288
更新日期:2018-06-07 00:00:00
abstract::Feed cost accounts for approximately 65-75% of overall commercial pork production costs. Therefore, improving the feed efficiency of pig production is important. In this study, 12 individuals with either extremely high (HE) or low (LE) feed efficiency were selected from 225 Duroc × (Landrace × Yorkshire) (DLY) pigs. A...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes10090725
更新日期:2019-09-18 00:00:00
abstract::The convergence of distinct lineages upon interspecific hybridisation, including when accompanied by increases in ploidy (allopolyploidy), is a driving force in the origin of many plant species. In plant breeding too, both interspecific hybridisation and allopolyploidy are important because they facilitate introgressi...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes1020166
更新日期:2010-07-02 00:00:00
abstract::Although bacterial genomes have been traditionally viewed as being very compact, with relatively low amounts of repetitive and non-coding DNA, this view has dramatically changed in recent years. The increase of available complete bacterial genomes has revealed that many species present abundant repetitive DNA (i.e., i...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes3040634
更新日期:2012-10-12 00:00:00
abstract::This review looks back at five decades of research into genetic susceptibility to colorectal cancer (CRC) and the insights these studies have provided. Initial evidence of a genetic basis of CRC stems from epidemiological studies in the 1950s and is further provided by the existence of multiple dominant predisposition...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes5020270
更新日期:2014-03-27 00:00:00
abstract::MYO6 is known as a genetic cause of autosomal dominant and autosomal recessive inherited hearing loss. In this study, to clarify the frequency and clinical characteristics of hearing loss caused by MYO6 gene mutations, a large-scale genetic analysis of Japanese patients with hearing loss was performed. By means of mas...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11030273
更新日期:2020-03-04 00:00:00
abstract::Satellite DNAs are tandemly repeated sequences preferentially assembled into large arrays within constitutive heterochromatin and their transcription is often activated by stress conditions, particularly by heat stress. Bioinformatic analyses of sequenced genomes however reveal single repeats or short arrays of satell...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11060663
更新日期:2020-06-18 00:00:00
abstract::Mutations affecting the Retinitis Pigmentosa GTPase Regulator (RPGR) gene are the commonest cause of X-linked and recessive retinitis pigmentosa (RP), accounting for 10%-20% of all cases of RP. The phenotype is one of the most severe amongst all causes of RP, characteristic for its early onset and rapid progression to...
journal_title:Genes
pub_type: 杂志文章,评审
doi:10.3390/genes10090674
更新日期:2019-09-04 00:00:00
abstract::Sex chromosomes form once recombination is halted around the sex-determining locus between a homologous pair of chromosomes, resulting in a male-limited Y chromosome. We recently characterized the nascent sex chromosome system in the Trinidadian guppy (Poeciliareticulata). The guppy Y is one of the youngest animal sex...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes9050238
更新日期:2018-05-03 00:00:00
abstract::White Spot Syndrome Virus (WSSV) is one of the main threats to farming Litopenaeus vannamei, the most important crustacean commercialized in aquaculture worldwide. Here, we performed RNA-seq analyses in hepatopancreas and muscle from WSSV-negative (healthy) and WSSV-positive (unhealthy) L. vannamei, previously exposed...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11070805
更新日期:2020-07-16 00:00:00
abstract::Pancreatic ductal adenocarcinoma is an extremely aggressive disease with a high metastatic potential. Most patients are diagnosed with metastatic disease, at which the five-year survival rate is only 3%. A better understanding of the mechanisms that drive metastasis is imperative for the development of better therapeu...
journal_title:Genes
pub_type: 杂志文章,评审
doi:10.3390/genes11010006
更新日期:2019-12-19 00:00:00
abstract::Breast cancer is one of the most common malignancies in women. Patient-derived tumor xenograft (PDX) model is a cutting-edge approach for drug research on breast cancer. However, PDX still exhibits differences from original human tumors, thereby challenging the molecular understanding of tumorigenesis. In particular, ...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes9030155
更新日期:2018-03-12 00:00:00
abstract::Oral vaccination is a practical method for the active immunization of farmed fish in the matter of animal welfare and handling costs. However, it always shows insufficient protective immunity, mainly due to antigen degradation in the gastrointestinal tract (GIT). Bacillus subtilis spores have been shown to be able to ...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11111351
更新日期:2020-11-14 00:00:00
abstract::In forensics, mitochondrial DNA (mtDNA) analysis is foremost applied to rootless hairs often lacking detectable nuclear DNA. Sanger sequencing is the routine mtDNA method in most forensic laboratories, even though interpretation of mixed samples and heteroplasmic sites can be challenging. Individuals may hold cells wi...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11111355
更新日期:2020-11-16 00:00:00
abstract::Keratin-associated proteins (KAPs) are structural components of wool and hair fibers. To date, eight high glycine/tyrosine KAP (HGT-KAP) families have been identified in humans, but only three have been identified in sheep. In this study, the putative ovine homolog of the human KAP22-1 gene (KRTAP22-1) was amplified u...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes8010027
更新日期:2017-01-11 00:00:00
abstract::Living organisms are usually exposed to various DNA damaging agents so the mechanisms to detect and repair diverse DNA lesions have developed in all organisms with the result of maintaining genome integrity. Defects in DNA repair machinery contribute to cancer, certain diseases, and aging. Therefore, conserving the ge...
journal_title:Genes
pub_type: 杂志文章,评审
doi:10.3390/genes8110299
更新日期:2017-10-30 00:00:00
abstract::The anaerobic degradation of benzoate in bacteria involves the benzoyl-CoA central pathway. Azoarcus/Aromatoleum strains are a major group of anaerobic benzoate degraders, and the transcriptional regulation of the bzd genes was extensively studied in Azoarcus sp. CIB. In this work, we show that the bzdR regulatory gen...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes10070489
更新日期:2019-06-27 00:00:00
abstract::The nitrogen use efficiency (NUE) of crop plants is limited and enhancing it in rice, a major cereal crop, would be beneficial for farmers and the environment alike. Here we report the genome-wide transcriptome analysis of two rice genotypes, IR 64 (IR64) and Nagina 22 (N22) under optimal (+N) and chronic starvation (...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes9040206
更新日期:2018-04-11 00:00:00
abstract::There is an ongoing worldwide coronavirus disease 2019 (Covid-19) pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). At present, confirmatory diagnosis is by reverse transcription polymerase chain reaction (RT-PCR), typically taking several hours and requiring a molecular laboratory to pe...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11060664
更新日期:2020-06-18 00:00:00
abstract::Gruiformes is a group with phylogenetic issues. Recent studies based on mitochondrial and genomic DNA have proposed the existence of a core Gruiformes, consisting of five families: Heliornithidae, Aramidae, Gruidae, Psophiidae and Rallidae. Karyotype studies on these species are still scarce, either by conventional st...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11030307
更新日期:2020-03-13 00:00:00
abstract::One of the hallmarks of cancer cells is their indefinite replicative potential, made possible by the activation of a telomere maintenance mechanism (TMM). The majority of cancers reactivate the reverse transcriptase, telomerase, to maintain their telomere length but a minority (10% to 15%) utilize an alternative lengt...
journal_title:Genes
pub_type: 杂志文章,评审
doi:10.3390/genes11020133
更新日期:2020-01-27 00:00:00
abstract::Synthesis of chromosomal DNA is initiated from multiple origins of replication in higher eukaryotes; however, little is known about these origins' structures. We isolated the origin-derived nascent DNAs from a human repair-deficient cell line by blocking the replication forks near the origins using two different origi...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes4020198
更新日期:2013-04-17 00:00:00
abstract::Ehlers-Danlos syndrome (EDS) comprises clinically heterogeneous connective tissue disorders with diverse molecular etiologies. The 2017 International Classification for EDS recognized 13 distinct subtypes caused by pathogenic variants in 19 genes mainly encoding fibrillar collagens and collagen-modifying or processing...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes10020135
更新日期:2019-02-12 00:00:00
abstract::Bupleurum falcatum, which belongs to the family Apiaceae, has long been applied for curative treatments, especially as a liver tonic, in herbal medicine. The chloroplast (cp) genome has been an ideal model to perform the evolutionary and comparative studies because of its highly conserved features and simple structure...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes7050020
更新日期:2016-05-13 00:00:00
abstract::Segments of the genome enriched in repetitive sequences still present a challenge and are omitted in genome assemblies. For that reason, the exact composition of DNA sequences underlying the heterochromatic regions and the active centromeres are still unexplored for many organisms. The centromere is a crucial region o...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11060695
更新日期:2020-06-24 00:00:00