解剖学和形态学
麻醉学
听力与言语-语言病理学
行为科学
心脏和心血管系统
细胞和组织工程学
临床神经病学
危重症监护医学
牙科,口腔外科和医学
皮肤病学
急诊医学
内分泌学和新陈代谢
肠胃学和肝脏学
老人病学和老年医学
卫生保健科学和服务
血液学
免疫学
传染病
综合和补充性医学
医学伦理学
医学信息学
医学实验室技术
医学,全科和内科
医学,法律
医学,研究和试验
神经系统科学
护理
营养学和饮食学
产科医学和妇科医学
肿瘤学
眼科学
整形外科学
耳鼻喉科学
病理学
儿科学
周围血管疾病
药理学和药剂学
生理学
基本医疗保健
精神病学
公共、环境和职业卫生
放射学,核医学和医学成像
康复学
生殖生物学
呼吸系统
风湿病学
运动科学
外科学
毒理学
热带医学
泌尿学和肾脏学
病毒学
老年医学
健康政策和服务
心理学,临床
abstract::Epigenetic alterations at imprinted genes on different chromosomes have been linked to several imprinting disorders (IDs) such as Beckwith-Wiedemann syndrome (BWS) and pseudohypoparathyroidism type 1b (PHP1b). Here, we present a male patient with these two distinct IDs caused by two independent mechanisms-loss of meth...
journal_title:Genes
pub_type:
doi:10.3390/genes12020172
更新日期:2021-01-27 00:00:00
abstract::The scale of genetic methods are presently being expanded: forensic genetic assays previously were limited to tens of loci, but now technologies allow for a transition to forensic genomic approaches that assess thousands to millions of loci. However, there are subtle distinctions between genetic assays and their genom...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes12020185
更新日期:2021-01-27 00:00:00
abstract::It is well established that embryonic chromosomal abnormalities (both in the number of chromosomes and the structure) account for 50% of early pregnancy losses. However, little is known regarding the potential differences in the incidence and distribution of chromosomal abnormalities between patients with sporadic abo...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes12020141
更新日期:2021-01-22 00:00:00
abstract::The efficient extraction of DNA from challenging samples, such as bones, is critical for the success of downstream genotyping analysis in molecular genetic disciplines. Even though the ancient DNA community has developed several protocols targeting small DNA fragments that are typically present in decomposed or old sp...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes12020146
更新日期:2021-01-22 00:00:00
abstract::Hepatic lipase (encoded by LIPC) is a glycoprotein in the triacylglycerol lipase family and mainly synthesized in and secreted from the liver. Previous studies demonstrated that hepatic lipase is crucial for reverse cholesterol transport and modulating metabolism and the plasma levels of several lipoproteins. This stu...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes12020148
更新日期:2021-01-22 00:00:00
abstract::The etiology and reasons underlying the ethnic disparities in systemic sclerosis (SSc) remain unknown. African Americans are disproportionally affected by SSc and yet are underrepresented in research. The aim of this study was to comprehensively investigate the association of DNA methylation levels with SSc in dermal ...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes12020129
更新日期:2021-01-20 00:00:00
abstract::Cancer stem cells (CSCs), having both self-renewal and tumorigenic capacity, utilize an energy metabolism system different from that of non-CSCs. Lipid droplets (LDs) are organelles that store neutral lipids, including triacylglycerol. Previous studies demonstrated that LDs are formed and store lipids as an energy sou...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes12010099
更新日期:2021-01-14 00:00:00
abstract::Limb-girdle muscular dystrophies (LGMD) are clinically and genetically heterogeneous conditions, presenting with a wide clinical spectrum, leading to progressive proximal weakness caused by loss of muscle fibers. MiR-206 is a member of myomiRNAs, a group of miRNAs with important function in skeletal muscle. Our aim is...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes12010085
更新日期:2021-01-12 00:00:00
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 R577...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes12010076
更新日期:2021-01-08 00:00:00
abstract::Familial hypercholesterolemia (FH) is a common autosomal codominant disorder, characterized by elevated low-density lipoprotein cholesterol levels causing premature atherosclerotic cardiovascular disease. About 2900 variants of LDLR, APOB, and PCSK9 genes potentially associated with FH have been described earlier. Nev...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes12010066
更新日期:2021-01-06 00:00:00
abstract::The transition from a dormant to a germinating seed represents a crucial developmental switch in the life cycle of a plant. Subsequent transition from a germinating seed to an autotrophic organism also requires a robust and multi-layered control. Seed germination and seedling growth are multistep processes, involving ...
journal_title:Genes
pub_type: 杂志文章,评审
doi:10.3390/genes12010052
更新日期:2020-12-31 00:00:00
abstract::Inositol trisphosphate receptor (IP3R) mediated Ca+2 signaling is essential in determining the cell fate by regulating numerous cellular processes, including cell division and cell death. Despite extensive studies about the characterization of IP3R in cancer, the underlying molecular mechanism initiating the cell prol...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes12010034
更新日期:2020-12-29 00:00:00
abstract::Blumeria graminis f. sp. hordei (Bgh), the causal agent of barley powdery mildew (PM), is one of the most important barley leaf diseases and is prevalent in most barley growing regions. Infection decreases grain quality and yields on average by 30%. Multi-parent advanced generation inter-cross (MAGIC) populations comb...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11121512
更新日期:2020-12-18 00:00:00
abstract::Warmblood fragile foal syndrome (WFFS) is an autosomal recessive disorder caused by a single nucleotide variant in the procollagen-lysine-2-oxoglutarate-5-dioxygenase 1 gene (PLOD1:c.2032G>A, p.Gly678Arg). Homozygosity for the PLOD1 variant causes an Ehler-Danlos-like syndrome, which has to date only been reported in ...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11121518
更新日期:2020-12-18 00:00:00
abstract::For medical genetic counseling, estimating the chance of a child being born with chromosome abnormality is crucially important. Cytogenetic diagnostics of parents with a balanced karyotype are a special case. Such chromosome rearrangements cannot be detected with comprehensive chromosome screening. In the current pape...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11121511
更新日期:2020-12-17 00:00:00
abstract::Prostate-derived extracellular vesicles (pEVs) may represent a way to selectively transport cargo molecules from the producing cells to the target cells to allow biological events, both in physiological and pathological circumstances. pEVs cargo participates in the modulation of the inflammatory responses in physiolog...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11121495
更新日期:2020-12-12 00:00:00
abstract::White mold (WM) is a devastating fungal disease affecting common bean (Phaseolus vulgaris L.). In this research, a genome-wide association study (GWAS) for WM resistance was conducted using 294 lines of the Spanish diversity panel. One single-locus method and six multi-locus methods were used in the GWAS. Response to ...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11121496
更新日期:2020-12-12 00:00:00
abstract::Old World lupins constitute an interesting model for evolutionary research due to diversity in genome size and chromosome number, indicating evolutionary genome reorganization. It has been hypothesized that the polyploidization event which occurred in the common ancestor of the Fabaceae family was followed by a lineag...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11121489
更新日期:2020-12-10 00:00:00
abstract::Ring chromosome 8 (r(8)) is one of the least frequent ring chromosomes. Usually, maternal chromosome 8 forms a ring, which can be lost from cells due to mitotic instability. The 8q24 region contains the imprinted KCNK9 gene, which is expressed from the maternal allele. Heterozygous KCNK9 mutations are associated with ...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11121473
更新日期:2020-12-09 00:00:00
abstract::The TDP1 (tyrosyl-DNA phosphodiesterase 1) enzyme removes the non-specific covalent intermediates between topoisomerase I and DNA, thus playing a crucial role in preventing DNA damage. While mammals possess only one TDP1 gene, in plants two genes (TDP1α and TDP1β) are present constituting a small gene subfamily. These...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11121465
更新日期:2020-12-07 00:00:00
abstract::Silver-Russell syndrome (SRS) is a rare growth-related genetic disorder that is mainly associated with prenatal and postnatal growth retardation. Molecular causes are not clear in all cases, the most common ones being loss of methylation on chromosome 11p15 (≈50%) and maternal uniparental disomy for chromosome 7 (upd(...
journal_title:Genes
pub_type:
doi:10.3390/genes11121461
更新日期:2020-12-05 00:00:00
abstract::Ferns are a representative clade in plant evolution although underestimated in the genomic era. Ceratopteris richardii is an emergent model for developmental processes in ferns, yet a complete scheme of the different growth stages is necessary. Here, we present a developmental analysis, at the tissue and cellular leve...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11121455
更新日期:2020-12-04 00:00:00
abstract::The continuous development of new genotyping technologies requires awareness of their potential advantages and limitations concerning utility for pharmacogenomics (PGx). In this review, we provide an overview of technologies that can be applied in PGx research and clinical practice. Most commonly used are single nucle...
journal_title:Genes
pub_type: 杂志文章,评审
doi:10.3390/genes11121456
更新日期:2020-12-04 00:00:00
abstract::In angiosperms, meiotic failure coupled with the formation of genetically unreduced gametophytes in ovules (apomeiosis) constitute major components of gametophytic apomixis. These aberrant developmental events are generally thought to be caused by mutation. However, efforts to locate the responsible mutations have fai...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11121449
更新日期:2020-12-02 00:00:00
abstract::Fruit set is the earliest phase of fruit growth and represents the onset of ovary growth after successful fertilization. In parthenocarpy, fruit formation is less affected by environmental factors because it occurs in the absence of pollination and fertilization, making parthenocarpy a highly desired agronomic trait. ...
journal_title:Genes
pub_type: 杂志文章,评审
doi:10.3390/genes11121441
更新日期:2020-11-30 00:00:00
abstract::The presence and strength of resource competition can influence how organisms adaptively respond to environmental change. Selection may thus reflect a balance between two forces, adaptation to an environmental optimum and evolution to avoid strong competition. While this phenomenon has previously been explored in the ...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11121433
更新日期:2020-11-28 00:00:00
abstract::B-cell precursor acute lymphoblastic leukaemia (B-ALL) is a malignancy of lymphoid progenitor cells with altered genes including the Janus kinase (JAK) gene family. Among them, tyrosine kinase 2 (TYK2) is involved in signal transduction of cytokines such as interferon (IFN) α/β through IFN-α/β receptor alpha chain (IF...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11121434
更新日期:2020-11-28 00:00:00
abstract::Hypersialylation caused by the overexpression of sialyltransferases (STs) is a common feature in cancer that is associated with several characteristics of tumorigenesis. Thus, identifying cancer-associated STs is critical for cancer therapy. However, ST screening has been frequently conducted in cell line models. In t...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11121436
更新日期:2020-11-28 00:00:00
abstract::Post-translational modification (PTM) is a critical biological reaction which adds to the diversification of the proteome. With numerous known modifications being studied, pupylation has gained focus in the scientific community due to its significant role in regulating biological processes. The traditional experimenta...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11121431
更新日期:2020-11-28 00:00:00
abstract::Continuous cultures assure the invariability of environmental conditions and the metabolic state of cultured microorganisms, whereas batch-cultured cells undergo constant changes in nutrients availability. For that reason, continuous culture is sometimes employed in the whole transcriptome, whole proteome, or whole me...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11121419
更新日期:2020-11-27 00:00:00
abstract::RPE65 isomerase, expressed in the retinal pigmented epithelium (RPE), is an enzymatic component of the retinoid cycle, converting all-trans retinyl ester into 11-cis retinol, and it is essential for vision, because it replenishes the photon capturing 11-cis retinal. To date, almost 200 loss-of-function mutations have ...
journal_title:Genes
pub_type: 杂志文章,评审
doi:10.3390/genes11121420
更新日期:2020-11-27 00:00:00
abstract::Aminoacyl-tRNA synthetases (aaRSs) are key enzymes in the mRNA translation machinery, yet they possess numerous non-canonical functions developed during the evolution of complex organisms. The aaRSs and aaRS-interacting multi-functional proteins (AIMPs) are continually being implicated in tumorigenesis, but these conn...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11111384
更新日期:2020-11-22 00:00:00
abstract::Horses have been studied for exercise function rather than food production, unlike most livestock. Therefore, the role and characteristics of tissue landscapes are critically understudied, except for certain muscles used in exercise-related studies. In the present study, we compared RNA-Seq data from 18 Jeju horse ske...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11111359
更新日期:2020-11-17 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::Fig wasps are a peculiar group of insects which, for millions of years, have inhabited the enclosed syconia of fig trees. Considering the relatively closed and dark environment of fig syconia, we hypothesize that the fig wasps' oxidative phosphorylation (OXPHOS) pathway, which is the main oxygen consumption and adenos...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11111353
更新日期:2020-11-15 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::Cytochrome P450 enzymes encoded by MORE AXILLARY GROWTH1 (MAX1)-like genes produce most of the structural diversity of strigolactones during the final steps of strigolactone biosynthesis. The diverse copies of MAX1 in Oryza sativa provide a resource to investigate why plants produce such a wide range of strigolactones...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11111348
更新日期:2020-11-13 00:00:00
abstract::The SLC6A4 gene has been implicated in psychiatric disorder susceptibility and antidepressant response variability. The SLC6A4 promoter is defined by a variable number of homologous 20-24 bp repeats (5-HTTLPR), and long (L) and short (S) alleles are associated with higher and lower expression, respectively. However, t...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11111333
更新日期:2020-11-12 00:00:00
abstract::DNA methyltransferases (DNMTs) play an essential role in DNA methylation and transcriptional regulation in the genome. DNMTs, along with other poorly studied elements, modulate the dynamic DNA methylation patterns of embryonic and adult cells. We summarize the current knowledge on the molecular mechanism of DNMTs' fun...
journal_title:Genes
pub_type: 杂志文章,评审
doi:10.3390/genes11111336
更新日期:2020-11-12 00:00:00
abstract::Most of the prescribing and dispensing of medicines happens in primary care. Pharmacogenomics (PGx) is the study and clinical application of the role of genetic variation on drug response. Mounting evidence suggests PGx can improve the safety and/or efficacy of several medications commonly prescribed in primary care. ...
journal_title:Genes
pub_type: 杂志文章,评审
doi:10.3390/genes11111337
更新日期:2020-11-12 00:00:00