abstract：:Expanded newborn screening for inborn errors of metabolism (IEMs) by tandem mass spectrometry (MS/MS) could simultaneously analyze more than 40 metabolites and identify about 50 kinds of IEMs. Next generation sequencing (NGS) targeting hundreds of IMEs-associated genes as a follow-up test in expanded newborn screening...

journal_title：Frontiers in genetics

authors： Wang T,Ma J,Zhang Q,Gao A,Wang Q,Li H,Xiang J,Wang B

更新日期：2019-10-29 00:00:00

abstract：:Epithelial ovarian cancer (EOC) is one of the malignancies in women, which has the highest mortality. However, the microlevel mechanism has not been discussed in detail. The expression profiles GSE27651, GSE38666, GSE40595, and GSE66957 including 188 tumor and 52 nontumor samples were downloaded from the Gene Expressi...

journal_title：Frontiers in genetics

authors： Liu J,Meng H,Li S,Shen Y,Wang H,Shan W,Qiu J,Zhang J,Cheng W

更新日期：2019-10-24 00:00:00

abstract：:Transcriptome analyses have increased our understanding of the molecular mechanisms underlying human diseases. Most approaches aim to identify significant genes by comparing their expression values between healthy subjects and a group of patients with a certain disease. Given that studies normally contain few samples,...

journal_title：Frontiers in genetics

authors： Gonçalves ANA,Lever M,Russo PST,Gomes-Correia B,Urbanski AH,Pollara G,Noursadeghi M,Maracaja-Coutinho V,Nakaya HI

更新日期：2019-10-24 00:00:00

abstract：:Mitogen-activated protein kinases (MAPKs) play a regulatory role and influence various biological activities, such as cell proliferation, differentiation, and survival. Our group has demonstrated through functional studies that Schistosoma mansoni c-Jun N-terminal kinase (SmJNK) MAPK is involved in the parasite's deve...

journal_title：Frontiers in genetics

authors： Gava SG,Tavares NC,Falcone FH,Oliveira G,Mourão MM

更新日期：2019-10-18 00:00:00

abstract：:In this study, we examined whether smoking and drinking affect sperm quality and the DNA methylation of the repetitive element LINE-1, MEST, P16, H19, and GNAS in sperm. Semen samples were obtained from 143 male residents in a minority-inhabited district of Guizhou province in southwest China. Quantitative DNA methyla...

journal_title：Frontiers in genetics

authors： Zhang W,Li M,Sun F,Xu X,Zhang Z,Liu J,Sun X,Zhang A,Shen Y,Xu J,Miao M,Wu B,Yuan Y,Huang X,Shi H,Du J

更新日期：2019-10-18 00:00:00

abstract：:Seed dormancy and germination are important agronomic traits in wheat (Triticum aestivum L.) because they determine pre-harvest sprouting (PHS) resistance and thus affect grain production. These processes are regulated by Gibberellic Acid-Stimulated Regulator (GASR) genes. In this study, we identified 37 GASR genes in...

journal_title：Frontiers in genetics

authors： Cheng X,Wang S,Xu D,Liu X,Li X,Xiao W,Cao J,Jiang H,Min X,Wang J,Zhang H,Chang C,Lu J,Ma C

更新日期：2019-10-18 00:00:00

abstract：:Osteogenesis Imperfecta (OI) is a rare inherited bone dysplasia, which is mainly caused by mutations in genes encoding type I collagen including COL1A1 and COL1A2. It has been well established to identify the classical variants as well as consensus splicing-site-variants in these genes in our previous studies. However...

journal_title：Frontiers in genetics

authors： Li L,Cao Y,Zhao F,Mao B,Ren X,Wang Y,Guan Y,You Y,Li S,Yang T,Zhao X

更新日期：2019-10-18 00:00:00

abstract：:The often-used A(C)E model that decomposes phenotypic variance into parts due to additive genetic and environmental influences can be extended to a longitudinal model when the trait has been assessed at multiple occasions. This enables inference about the nature (e.g., genetic or environmental) of the covariance among...

journal_title：Frontiers in genetics

authors： Schwabe I,Gu Z,Tijmstra J,Hatemi P,Pohl S

更新日期：2019-10-16 00:00:00

abstract：:Shotgun metagenomics has greatly advanced our understanding of microbial communities over the last decade. Metagenomic analyses often include assembly and genome binning, computationally daunting tasks especially for big data from complex environments such as soil and sediments. In many studies, however, only a subset...

journal_title：Frontiers in genetics

authors： Guo J,Quensen JF,Sun Y,Wang Q,Brown CT,Cole JR,Tiedje JM

更新日期：2019-10-15 00:00:00

abstract：:Therapeutic applications of CRISPR-Cas9 gene editing have spurred innovation in Cas9 enzyme engineering and single guide RNA (sgRNA) design algorithms to minimize potential off-target events. While recent work in rodents outlines favorable conditions for specific editing and uses a trio design (mother, father, offspri...

journal_title：Frontiers in genetics

authors： Mooney MR,Davis EE,Katsanis N

更新日期：2019-10-11 00:00:00

abstract：:Background and aims: Obesity is a major health problem worldwide. Given the heterogeneous obesity phenotype, an optimal obesity stratification would improve clinical management. Since obesity has a strong genetic component, we aimed to develop a polygenic risk score (PRS) to stratify obesity according to the genetic b...

journal_title：Frontiers in genetics

authors： de Toro-Martín J,Guénard F,Bouchard C,Tremblay A,Pérusse L,Vohl MC

更新日期：2019-10-10 00:00:00

abstract：:The identification of functional modules in gene interaction networks is a key step in understanding biological processes. Network interpretation is essential for unveiling biological mechanisms, candidate biomarkers, or potential targets for drug discovery/repositioning. Plenty of biological module identification alg...

journal_title：Frontiers in genetics

authors： Nazzicari N,Vella D,Coronnello C,Di Silvestre D,Bellazzi R,Marini S

更新日期：2019-10-09 00:00:00

abstract：:The Galway sheep population is the only native Irish sheep breed and this livestock genetic resource is currently categorised as 'at-risk'. In the present study, comparative population genomics analyses of Galway sheep and other sheep populations of European origin were used to investigate the microevolution and recen...

journal_title：Frontiers in genetics

authors： McHugo GP,Browett S,Randhawa IAS,Howard DJ,Mullen MP,Richardson IW,Park SDE,Magee DA,Scraggs E,Dover MJ,Correia CN,Hanrahan JP,MacHugh DE

更新日期：2019-10-08 00:00:00

abstract：:Long non-coding RNAs (lncRNAs) are an emerging class of RNA species that may play a critical regulatory role in gene expression. However, the association between lncRNAs and atrial fibrillation (AF) is still not fully understood. In this study, we used RNA sequencing data to identify and quantify the both protein codi...

journal_title：Frontiers in genetics

authors： Wu DM,Zhou ZK,Fan SH,Zheng ZH,Wen X,Han XR,Wang S,Wang YJ,Zhang ZF,Shan Q,Li MQ,Hu B,Lu J,Chen GQ,Hong XW,Zheng YL

更新日期：2019-10-02 00:00:00

abstract：:The interesting history of Southern Africa has put the region in the spotlight for population medical genetics. Major events including the Bantu expansion and European colonialism have imprinted unique genetic signatures within autochthonous populations of Southern Africa, this resulting in differential allele frequen...

journal_title：Frontiers in genetics

authors： Thami PK,Chimusa ER

更新日期：2019-09-27 00:00:00

abstract：:Background: Although there is evidence that the CYP3A4*22 variant should be considered in tacrolimus dosing in renal transplantation, its impact beyond tacrolimus dose requirements remains controversial. Methods: In a cohort of 121 kidney transplant recipients, we analyzed the CYP3A4*1B, CYP3A4*22, and CYP3A5*3 allele...

journal_title：Frontiers in genetics

authors： Abdel-Kahaar E,Winter S,Tremmel R,Schaeffeler E,Olbricht CJ,Wieland E,Schwab M,Shipkova M,Jaeger SU

更新日期：2019-09-26 00:00:00

abstract：:Global microarray gene expression analyses previously demonstrated differences in female and male embryos during neurodevelopment. In particular, before sexual maturation of the gonads, the differences seem to concentrate on the expression of genes encoded on the X- and Y-chromosomes. To investigate genome-wide differ...

journal_title：Frontiers in genetics

authors： Johansson MM,Pottmeier P,Suciu P,Ahmad T,Zaghlool A,Halvardson J,Darj E,Feuk L,Peuckert C,Jazin E

更新日期：2019-09-24 00:00:00

abstract：:There is a paradigm shift from the traditional focus on the "average" individual towards the definition and analysis of trait variation within individual life-history and among individuals in populations. This is a result of increasing availability of individual phenotypic data. The shift allows the use of genetic and...

journal_title：Frontiers in genetics

authors： Filipe JAN,Kyriazakis I

更新日期：2019-09-20 00:00:00

abstract：:Taproot skin color is a crucial visual and nutritional quality trait of radish, and purple skin is most attractive to consumers. However, the genetic mechanism underlying this character is unknown. Herein, F2 segregating populations were constructed to investigate radish genomic regions with purple skin genes. Segrega...

journal_title：Frontiers in genetics

authors： Liu T,Wang J,Wu C,Zhang Y,Zhang X,Li X,Wang H,Song J,Li X

更新日期：2019-09-20 00:00:00

abstract：:Pervasive allelic variation at both gene and single nucleotide level (SNV) between individuals is commonly associated with complex traits in humans and animals. Allele-specific expression (ASE) analysis, using RNA-Seq, can provide a detailed annotation of allelic imbalance and infer the existence of cis-acting transcr...

journal_title：Frontiers in genetics

authors： Salavati M,Bush SJ,Palma-Vera S,McCulloch MEB,Hume DA,Clark EL

更新日期：2019-09-19 00:00:00

abstract：:Organoids are engineered three-dimensional tissue cultures derived from stem cells and capable of self-renewal and self-organization into a variety of progenitors and differentiated cell types. An organoid resembles the cellular structure of an organ and retains some of its functionality, while still being amenable to...

journal_title：Frontiers in genetics

authors： Montes-Olivas S,Marucci L,Homer M

更新日期：2019-09-19 00:00:00

abstract：:Von Hippel-Lindau (VHL) disease is a rare autosomal-dominant inherited tumor syndrome. We aimed to analyze the correlations between frequent VHL mutations and phenotypes in Chinese VHL families. We screened 540 patients from 187 unrelated Chinese VHL families for 19 frequent VHL mutations. The penetrance and mean age ...

journal_title：Frontiers in genetics

authors： Hong B,Ma K,Zhou J,Zhang J,Wang J,Liu S,Zhang Z,Cai L,Zhang N,Gong K

更新日期：2019-09-18 00:00:00

abstract：:Alternative splicing (AS) can enhance transcript diversity dramatically and play an important role in stress adaptation. Limited researches of AS have been reported in the Pacific white shrimp (Litopenaeus vannamei), which is an important aquaculture species in the world. Here, we performed a genome-wide identificatio...

journal_title：Frontiers in genetics

authors： Zhang X,Yuan J,Zhang X,Liu C,Xiang J,Li F

更新日期：2019-09-12 00:00:00

abstract：:Objective: Adrenocortical carcinoma (ACC) is a rare but aggressive malignant cancer that has been attracting growing attention over recent decades. This study aims to integrate protein interaction networks with gene expression profiles to identify potential biomarkers with prognostic value in silico. Methods: Three mi...

journal_title：Frontiers in genetics

authors： Xu WH,Wu J,Wang J,Wan FN,Wang HK,Cao DL,Qu YY,Zhang HL,Ye DW

更新日期：2019-09-11 00:00:00

abstract：:Abundant genomic heterozygosity can be found in wild strains of the budding yeast Saccharomyces cerevisiae isolated from industrial and clinical environments. The extent to which heterozygosity influences the phenotypes of these isolates is not fully understood. One such case is the PE-2/JAY270 strain, a natural hybri...

journal_title：Frontiers in genetics

authors： Sampaio NMV,Watson RA,Argueso JL

更新日期：2019-09-11 00:00:00

abstract：:Genetic variants can influence the expression of mRNA and protein. Genetic regulatory loci such as expression quantitative trait loci (eQTLs) and protein quantitative trait loci (pQTLs) exist in several species. However, it remains unclear how human genetic variants regulate mRNA and protein expression. Here, we chara...

journal_title：Frontiers in genetics

authors： Wang Y,He B,Zhao Y,Reiter JL,Chen SX,Simpson E,Feng W,Liu Y

更新日期：2019-09-10 00:00:00

abstract：:Background: Sturgeons (Chondrostei: Acipenseridae) are a group of "living fossil" fishes at a basal position among Actinopteri. They have raised great public interest due to their special evolutionary position, species conservation challenges, as well as their highly-prized eggs (caviar). The sterlet, Acipenser ruthen...

journal_title：Frontiers in genetics

authors： Cheng P,Huang Y,Du H,Li C,Lv Y,Ruan R,Ye H,Bian C,You X,Xu J,Liang X,Shi Q,Wei Q

更新日期：2019-09-05 00:00:00

abstract：:Keratinocyte differentiation requires intricately coordinated spatiotemporal expression changes that specify epidermis structure and function. This article utilizes single-cell RNA-seq data from 22,338 human foreskin keratinocytes to reconstruct the transcriptional regulation of skin development and homeostasis genes,...

journal_title：Frontiers in genetics

authors： Finnegan A,Cho RJ,Luu A,Harirchian P,Lee J,Cheng JB,Song JS

更新日期：2019-09-03 00:00:00

abstract：:The interaction of miRNA and lncRNA is known to be important for gene regulations. However, the number of known lncRNA-miRNA interactions is still very limited and there are limited computational tools available for predicting new ones. Considering that lncRNAs and miRNAs share internal patterns in the partnership bet...

journal_title：Frontiers in genetics

authors： Huang YA,Huang ZA,You ZH,Zhu Z,Huang WZ,Guo JX,Yu CQ

更新日期：2019-08-29 00:00:00

abstract：:Primary ciliary dyskinesia (PCD), a rare genetic disorder, is mostly caused by defects in more than 40 known cilia structure-related genes. However, in approximately 20-35% of patients, it is caused by unknown genetic factors, and the inherited pathogenic factors are difficult to confirm. Kartagener syndrome (KTS) is ...

journal_title：Frontiers in genetics

authors： Yue Y,Huang Q,Zhu P,Zhao P,Tan X,Liu S,Li S,Han X,Cheng L,Li B,Fu Y

更新日期：2019-08-22 00:00:00

abstract：:In the last decades, genome-wide association studies (GWAS) have uncovered tens of thousands of associations between common genetic variants and complex diseases. However, these statistical associations can rarely be interpreted functionally and mechanistically. As the majority of the disease-associated variants are l...

journal_title：Frontiers in genetics

authors： Mariella E,Marotta F,Grassi E,Gilotto S,Provero P

更新日期：2019-08-16 00:00:00

abstract：:Cotton (Gossypium spp.) is the most important natural fiber crop in the world. The R2R3-MYB gene family is a large gene family involved in many plant functions including cotton fiber development. Although previous studies have reported its phylogenetic relationships, gene structures, and expression patterns in tetrapl...

journal_title：Frontiers in genetics

authors： Wang N,Ma Q,Ma J,Pei W,Liu G,Cui Y,Wu M,Zang X,Zhang J,Yu S,Ma L,Yu J

更新日期：2019-08-15 00:00:00

abstract：:Introduction: Human satellite DNA is organized in long arrays in peri/centromeric heterochromatin. There is little information about satellite copy number variants (CNVs) in aging and replicative cell senescence (RS). Materials and Methods: Biotinylated pUC1.77 probe was used for the satellite III (f-SatIII) quantitat...

journal_title：Frontiers in genetics

authors： Ershova ES,Malinovskaya EM,Konkova MS,Veiko RV,Umriukhin PE,Martynov AV,Kutsev SI,Veiko NN,Kostyuk SV

更新日期：2019-08-07 00:00:00

abstract：:Developmental plasticity refers to the property by which the same genotype produces distinct phenotypes depending on the environmental conditions under which development takes place. By allowing organisms to produce phenotypes adjusted to the conditions that adults will experience, developmental plasticity can provide...

journal_title：Frontiers in genetics

authors： Lafuente E,Beldade P

更新日期：2019-08-07 00:00:00

abstract：:Background: Porcine respiratory and reproductive syndrome virus (PRRSV) is a single-stranded RNA virus member that infects pigs and causes losses to the commercial industry reaching upward of a billion dollars annually in combined direct and indirect costs. The virus can be separated into etiologies that contain multi...

journal_title：Frontiers in genetics

authors： Fleming DS,Miller LC

更新日期：2019-08-02 00:00:00

abstract：:MicroRNAs are a class of noncoding RNAs that can be involved in the regulation of gene expression in cancers, including lung cancer. Our previous research has shown that miR-486-5p is one of the most downregulated microRNAs in tissue and serum samples of lung cancer as a good diagnostic biomarker. The objective of thi...

journal_title：Frontiers in genetics

authors： Tian F,Wang J,Ouyang T,Lu N,Lu J,Shen Y,Bai Y,Xie X,Ge Q

更新日期：2019-07-26 00:00:00

abstract：:Normalization of cDNA is widely used to improve the coverage of rare transcripts in analysis of transcriptomes employing next-generation sequencing. Recently, long-read technology has been emerging as a powerful tool for sequencing and construction of transcriptomes, especially for complex genomes containing highly si...

journal_title：Frontiers in genetics

authors： Hoang NV,Furtado A,Perlo V,Botha FC,Henry RJ

更新日期：2019-07-23 00:00:00

abstract：:The number of vertebrae, especially thoracic vertebrae, is an important economic trait that may influence carcass length and meat production in animals. However, the genetic basis of vertebrae number in sheep is still poorly understood. To detect the candidate genes, 400 increased number of thoracic vertebrae (T14L6) ...

journal_title：Frontiers in genetics

authors： Li C,Li M,Li X,Ni W,Xu Y,Yao R,Wei B,Zhang M,Li H,Zhao Y,Liu L,Ullah Y,Jiang Y,Hu S

更新日期：2019-07-18 00:00:00

abstract：:Autosomal recessive non-syndromic hearing loss (ARNSHL) is a highly heterogeneous disease involving more than 70 pathogenic genes. However, most ARNSHL families have small-sized pedigrees with limited genetic information, rendering challenges for the molecular diagnosis of these patients. Therefore, we attempted to es...

journal_title：Frontiers in genetics

authors： Sang S,Ling J,Liu X,Mei L,Cai X,Li T,Li W,Li M,Wen J,Liu X,Liu J,Liu Y,Chen H,He C,Feng Y

更新日期：2019-07-17 00:00:00

abstract：:Background: There is a continued debate and inconsistent findings in previous literature about the relationship of catechol-O-methyltransferase (COMT) and Parkinson's disease (PD) susceptibility as well as cognitive dysfunction. To substantiate this existing gap, we comprehensively examine COMT genotype effects on the...

journal_title：Frontiers in genetics

authors： Tang C,Wang W,Shi M,Zhang N,Zhou X,Li X,Ma C,Chen G,Xiang J,Gao D

更新日期：2019-07-12 00:00:00