Intra-Familial Phenotypic Heterogeneity and Telomere Abnormality in von Hippel- Lindau Disease: Implications for Personalized Surveillance Plan and Pathogenesis of VHL-Associated Tumors.

abstract：:Several authors have acknowledged that testing mediational hypotheses between treatments, genes, physiological measures, and behaviors may substantially advance our understanding of how these associations operate. In psychiatric research, the costs of measuring the putative mediator or the outcome can be prohibitive. ...

journal_title：Frontiers in genetics

authors： Makowsky R,Beasley TM,Gadbury GL,Albert JM,Kennedy RE,Allison DB

更新日期：2011-10-31 00:00:00

abstract：:Innate immune response is triggered by pathogen components, like lipopolysaccharides (LPS) of gram-negative bacteria. LPS initiates Toll-like receptor 4 (TLR4) signaling, which involves mitogen activated protein kinases (MAPK) and nuclear factor kappa B (NFκB) in different pathway branches and ultimately induces infla...

journal_title：Frontiers in genetics

authors： Ostareck DH,Ostareck-Lederer A

更新日期：2019-02-04 00:00:00

abstract：:Encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome 13 (MTDPS13) is a rare genetic disorder caused by defects in F-box leucine-rich repeat protein 4 (FBXL4). Although FBXL4 is essential for the bioenergetic homeostasis of the cell, the precise role of the protein remains unknown. In this study, we report t...

journal_title：Frontiers in genetics

authors： Emperador S,Garrido-Pérez N,Amezcua-Gil J,Gaudó P,Andrés-Sanz JA,Yubero D,Fernández-Marmiesse A,O'Callaghan MM,Ortigoza-Escobar JD,Iriondo M,Ruiz-Pesini E,García-Cazorla A,Gil-Campos M,Artuch R,Montoya J,Bayona-Bafaluy MP

更新日期：2020-01-08 00:00:00

abstract：:Alzheimer's disease (AD) is a neurodegenerative disease that affects millions of individuals worldwide and can occur relatively early or later in life. It is well known that genetic components, such as the amyloid precursor protein gene on chromosome 21, are fundamental in early-onset AD (EOAD). To date, however, only...

journal_title：Frontiers in genetics

authors： Bajic VP,Essack M,Zivkovic L,Stewart A,Zafirovic S,Bajic VB,Gojobori T,Isenovic E,Spremo-Potparevic B

更新日期：2020-01-28 00:00:00

abstract：:Background: Papillary renal cell carcinoma (PRCC), although the second-most common type of renal cell carcinoma, still lacks specific biomarkers for diagnosis, treatment, and prognosis. TopBP1-interacting checkpoint and replication regulator (TICRR) is a DNA replication initiation regulator upregulated in various canc...

journal_title：Frontiers in genetics

authors： Xia S,Lin Y,Lin J,Li X,Tan X,Huang Z

更新日期：2021-01-11 00:00:00

abstract：:In animals, interactions among gene products of mitochondrial and nuclear genomes (mitonuclear interactions) are of profound fitness, evolutionary, and ecological significance. Most fundamentally, the oxidative phosphorylation (OXPHOS) complexes responsible for cellular bioenergetics are formed by the direct interacti...

journal_title：Frontiers in genetics

authors： Sunnucks P,Morales HE,Lamb AM,Pavlova A,Greening C

更新日期：2017-03-03 00:00:00

abstract：:In this article, we make a theoretical and in silico study for uncovering and evaluating biomarkers in colon and rectal cancer (CRC) by the dynamic network biomarker (DNB) theory. We propose a strategy to employ the theoretical concept of UICC TNM classification in CRC. To reveal the critical transition of CRC, the DN...

journal_title：Frontiers in genetics

authors： Tong Y,Song Y,Xia C,Deng S

更新日期：2020-10-20 00:00:00

abstract：:A biochemical activity, that is, enzymatic reaction or molecular interaction, frequently involves a molecule, for example, an enzyme, capable of interacting with numerous substrates or partners. Specificity is a fundamental property of biochemical activities, and relative specificity refers to the situation whereby a ...

journal_title：Frontiers in genetics

authors： Zeng Y

更新日期：2011-09-20 00:00:00

abstract：:Ubiquitination is a reversible protein modification broadly implicated in cellular functions. Signaling processes mediated by ubiquitin (ub) are crucial for the cellular response to DNA double-strand breaks (DSBs), one of the most dangerous types of DNA lesions. In particular, the DSB response critically relies on act...

journal_title：Frontiers in genetics

authors： Citterio E

更新日期：2015-09-08 00:00:00

abstract：:Measuring facial traits by quantitative means is a prerequisite to investigate epidemiological, clinical, and forensic questions. This measurement process has received intense attention in recent years. We divided this process into the registration of the face, landmarking, morphometric quantification, and dimension r...

journal_title：Frontiers in genetics

authors： Böhringer S,de Jong MA

更新日期：2019-05-24 00:00:00

abstract：:Liver is the main organ of lipid metabolism in chicken, especially for laying hens. To explore the molecular mechanism of lipid metabolism in chicken, five novel genes discovered in chicken liver tissue were systematically studied. Bioinformatic analysis was used to analyze the gene characteristics. The expression pat...

journal_title：Frontiers in genetics

authors： Li H,Li Y,Yang L,Zhang D,Liu Z,Wang Y,Han R,Li G,Li Z,Tian Y,Kang X,Liu X

更新日期：2020-03-31 00:00:00

abstract：:Postpartum depression (PPD) affects up to 19% of women, negatively impacting maternal and infant health. Reductions in plasma oxytocin levels have been associated with PPD and heritability studies have established a genetic contribution. Epigenetic regulation of the oxytocin receptor gene (OXTR) has been demonstrated ...

journal_title：Frontiers in genetics

authors： Bell AF,Carter CS,Steer CD,Golding J,Davis JM,Steffen AD,Rubin LH,Lillard TS,Gregory SP,Harris JC,Connelly JJ

更新日期：2015-07-21 00:00:00

abstract：:Sucrose transporters (SUTs) play key roles in allocating the translocation of assimilates from source to sink tissues. Although the characteristics and biological roles of SUTs have been intensively investigated in higher plants, this gene family has not been functionally characterized in cotton. In this study, we per...

journal_title：Frontiers in genetics

authors： Li W,Sun K,Ren Z,Song C,Pei X,Liu Y,Wang Z,He K,Zhang F,Zhou X,Ma X,Yang D

更新日期：2018-10-23 00:00:00

abstract：:RNase H1 is able to recognize DNA/RNA heteroduplexes and to degrade their RNA component. As a consequence, it has been implicated in different aspects of mtDNA replication such as primer formation, primer removal, and replication termination, and significant differences have been reported between control and mutant RN...

journal_title：Frontiers in genetics

authors： Reyes A,Rusecka J,Tońska K,Zeviani M

更新日期：2020-01-31 00:00:00

abstract：:Sufficient genetic variation in livestock populations is necessary both for adaptation to future changes in climate and consumer demand, and for continual genetic improvement of economically important traits. Unfortunately, the current trend is for reduced genetic variation, both within and across breeds. The latter o...

journal_title：Frontiers in genetics

authors： Biscarini F,Nicolazzi EL,Stella A,Boettcher PJ,Gandini G

更新日期：2015-02-25 00:00:00

abstract：:Nuclear factor Y (NF-Y) is a heterotrimeric transcription factor with the ability to bind to a CCAAT box in nearly all eukaryotes. However, the function of NF-Y in the life-history traits of insects is unclear. Here, we identified three NF-Y subunits, NlNF-YA, NlNF-YB, and NlNF-YC, in the wing-dimorphic brown planthop...

journal_title：Frontiers in genetics

authors： Chen HH,Liu YL,Liu XY,Zhang JL,Xu HJ

更新日期：2020-11-03 00:00:00

abstract：:Known as the "fifth RNA nucleotide", pseudouridine (Ψ or psi) is the first-discovered and most abundant RNA modification occurring at the Uridine site, and it plays a prominent role in a number of biological processes. Thousands of Ψ sites have been identified within different biological contexts thanks to the advance...

journal_title：Frontiers in genetics

authors： Song B,Tang Y,Wei Z,Liu G,Su J,Meng J,Chen K

更新日期：2020-03-12 00:00:00

abstract：:In this study, the genetic diversity of 115 common bean germplasm resources collected from 27 counties in Chongqing over 3 years (2015-2017) was assessed. The results showed that the genetic diversity of the common bean germplasm resources was high, with an average diversity index of 1.447. The diversity of the qualit...

journal_title：Frontiers in genetics

authors： Long J,Zhang J,Zhang X,Wu J,Chen H,Wang P,Wang Q,Du C

更新日期：2020-07-08 00:00:00

abstract：:Background: The aim of this study was to explore the Human Papillomavirus (HPV) genotype composition and intra-genotype variants within individual samples of low- and high-grade cervical cytology by deep sequencing. Clinical, cytological, sequencing, and functional/structural data were forged into an integrated varian...

journal_title：Frontiers in genetics

authors： Shen-Gunther J,Cai H,Zhang H,Wang Y

更新日期：2019-05-24 00:00:00

abstract：:Fragile-X syndrome is one of the most common forms of inherited mental retardation and autistic behaviors. The reduction/absence of the functional FMRP protein, coded by the X-linked Fmr1 gene in humans, is responsible for the syndrome. Patients exhibit a variety of symptoms predominantly linked to the function of FMR...

journal_title：Frontiers in genetics

authors： Specchia V,Puricella A,D'Attis S,Massari S,Giangrande A,Bozzetti MP

更新日期：2019-02-13 00:00:00

abstract：:ZNF143, a human homolog of the transcriptional activator Staf, is a C2H2-type protein consisting of seven zinc finger domains. As a transcription factor (TF), ZNF143 is sequence specifically binding to chromatin and activates the expression of protein-coding and non-coding genes on a genome scale. Although it is ubiqu...

journal_title：Frontiers in genetics

authors： Ye B,Yang G,Li Y,Zhang C,Wang Q,Yu G

更新日期：2020-04-07 00:00:00

abstract：:Alzheimer's disease (AD) is a neurodegenerative and progressive disease, which often causes irreversible damages to the cerebrum. The pathogenesis of AD is far from being fully understood, while there are some popular hypotheses. So far, the diagnosis of AD relies only on clinical screening in the form of imaging tech...

journal_title：Frontiers in genetics

authors： Wang L,Liu ZP

更新日期：2019-03-12 00:00:00

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：:Our understanding of the biological role of N6-methyladenosine (m6A), a ubiquitous non-editing RNA modification, has increased greatly since 2011. More recently, work from several labs revealed that m6A methylation regulates several aspects of mRNA metabolism. The "writer" protein METTL3, known as MT-A70 in humans, Dm...

journal_title：Frontiers in genetics

authors： Rockwell AL,Hongay CF

更新日期：2019-11-12 00:00:00

abstract：:Severe hypercholesterolemia (HC) is defined as an elevation of total cholesterol (TC) due to the increase in LDL cholesterol (LDL-C) >95th percentile or 190 mg/dl. The high values of LDL-C, especially when it is maintained over time, is considered a risk factor for the development of atherosclerotic cardiovascular dis...

journal_title：Frontiers in genetics

authors： Jarauta E,Bea-Sanz AM,Marco-Benedi V,Lamiquiz-Moneo I

更新日期：2020-12-03 00:00:00

abstract：:Most proteins are regulated by posttranslational modifications and changes in these modifications contribute to evolutionary changes as well as to human diseases. Phosphorylation of serines, threonines, and tyrosines are the most common modifications identified to date in eukaryotic proteomes. While the mode of action...

journal_title：Frontiers in genetics

authors： Landry CR,Freschi L,Zarin T,Moses AM

更新日期：2014-07-23 00:00:00

abstract：:Mesopelagic fish are largely abundant poorly studied fish that are still intact, but which, due to their potentially great added value, will be imminently exploited by humans. Therefore, studies that provide information to anticipate the anthropogenic impact on this important resource are urgently needed. In particula...

journal_title：Frontiers in genetics

authors： Rodriguez-Ezpeleta N,Álvarez P,Irigoien X

更新日期：2017-11-28 00:00:00

abstract：:Since the turn of the century, researchers have sought to diagnose cancer based on gene expression signatures measured from the blood or biopsy as biomarkers. This task, known as classification, is typically solved using a suite of algorithms that learn a mathematical rule capable of discriminating one group ("cases")...

journal_title：Frontiers in genetics

authors： Quinn TP,Nguyen T,Lee SC,Venkatesh S

更新日期：2019-07-02 00:00:00

abstract：:Ionizing radiation (IR) is a high-energy radiation whose biological effects depend on the irradiation doses. Low-dose radiation (LDR) is delivered during medical diagnoses or by an exposure to radioactive elements and has been linked to the occurrence of chronic diseases, such as leukemia and cardiovascular diseases. ...

journal_title：Frontiers in genetics

authors： Shin E,Lee S,Kang H,Kim J,Kim K,Youn H,Jin YW,Seo S,Youn B

更新日期：2020-10-02 00:00:00

abstract：:Human exposure to mercury is a serious problem of public health in Amazon. As in other vulnerable populations throughout the world, Amazonian riverine populations are chronically exposed to this metal and some symptoms of mercury intoxication were already detected in these populations. However, studies on the genetic ...

journal_title：Frontiers in genetics

authors： Arrifano GPF,Martín-Doimeadios RCR,Jiménez-Moreno M,Fernández-Trujillo S,Augusto-Oliveira M,Souza-Monteiro JR,Macchi BM,Alvarez-Leite JI,do Nascimento JLM,Amador MT,Santos S,Ribeiro-Dos-Santos Â,Silva-Pereira LC,Oriá RB,Cresp

更新日期：2018-07-27 00:00:00