Sulfite Alters the Mitochondrial Network in Molybdenum Cofactor Deficiency.

abstract：:von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome with poor survival. The current recommendations have proposed uniform surveillance strategies for all patients, neglecting the obvious phenotypic varieties. In this study, we aim to confirm the phenotypic heterogeneity in VHL disease and the underlying me...

journal_title：Frontiers in genetics

authors： Wang J,Peng X,Chen C,Ning X,Peng S,Li T,Liu S,Hong B,Zhou J,Ma K,Cai L,Gong K

更新日期：2019-04-24 00:00:00

abstract：:In 1994, it was suggested that AGG interruptions affect the stability of the fragile X triplet repeat. Until recently, however, this hypothesis was not explored on a large scale due primarily to the technical difficulty of determining AGG interruption patterns of the two alleles in females. The recent development of a...

journal_title：Frontiers in genetics

authors： Latham GJ,Coppinger J,Hadd AG,Nolin SL

更新日期：2014-07-29 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：:The comet assay is a simple and cost effective technique, commonly used to analyze and quantify DNA damage in individual cells. The versatility of the comet assay allows introduction of various modifications to the basic technique. The difference in the methylation sensitivity of the isoschizomeric restriction enzymes...

journal_title：Frontiers in genetics

authors： Lewies A,Van Dyk E,Wentzel JF,Pretorius PJ

更新日期：2014-07-07 00:00:00

abstract：:The unique structure of the X chromosome shaped by evolution has led to the present gender-specific genetic differences, which are not shared by its counterpart, the Y chromosome, and neither by the autosomes. In males, recombination between the X and Y chromosomes is limited to the pseudoautosomal regions, PAR1 and P...

journal_title：Frontiers in genetics

authors： Gomes I,Pinto N,Antão-Sousa S,Gomes V,Gusmão L,Amorim A

更新日期：2020-09-17 00:00:00

abstract：:The effective population size over time (demographic history) can be retraced from a sample of contemporary DNA sequences. In this paper, we propose a novel methodology based on importance sampling (IS) for exploring such demographic histories. Our starting point is the generalized skyline plot with the main differenc...

journal_title：Frontiers in genetics

authors： Ait Kaci Azzou S,Larribe F,Froda S

更新日期：2015-08-07 00:00:00

abstract：:Sorting of individual chromosomes by Flow Cytometry (flow-sorting) is an enrichment method to potentially simplify genome assembly by isolating chromosomes from the context of the genome. We have recently developed a workflow to sequence native, unamplified DNA and applied it to the smallest human chromosome, the Y ch...

journal_title：Frontiers in genetics

authors： Kuderna LFK,Solís-Moruno M,Batlle-Masó L,Julià E,Lizano E,Anglada R,Ramírez E,Bote A,Tormo M,Marquès-Bonet T,Fornas Ò,Casals F

更新日期：2020-01-09 00:00:00

abstract：:In the last few years, the role of non-coding regulatory elements and their involvement in human disease have received great attention. Among the non-coding regulatory sequences, enhancers are particularly important for the proper establishment of cell type-specific gene-expression programs. Furthermore, the disruptio...

journal_title：Frontiers in genetics

authors： Sánchez-Gaya V,Mariner-Faulí M,Rada-Iglesias A

更新日期：2020-07-20 00:00:00

abstract：:DNA methylation is an indispensable epigenetic modification that dynamically regulates gene expression and genome stability during cell growth and development processes. The target of rapamycin (TOR) has emerged as a central regulator to regulate many fundamental cellular metabolic processes from protein synthesis to ...

journal_title：Frontiers in genetics

authors： Zhu T,Li L,Feng L,Mo H,Ren M

更新日期：2020-03-03 00:00:00

abstract：:Hepatocellular carcinoma (HCC) remains hard to diagnose early and cure due to a lack of accurate biomarkers and effective treatments. Hence, it is necessary to explore the tumorigenesis and tumor progression of HCC to discover new biomarkers for clinical treatment. We performed weighted gene co-expression network anal...

journal_title：Frontiers in genetics

authors： Gu Y,Li J,Guo D,Chen B,Liu P,Xiao Y,Yang K,Liu Z,Liu Q

更新日期：2020-02-28 00:00:00

abstract：:Mutations in mitochondrial (mt) DNA determine important human diseases. The majority of the known pathogenic mutations are located in transfer RNA (tRNA) genes and are responsible for a wide range of currently untreatable disorders. Experimental evidence both in yeast and in human cells has shown that the detrimental ...

journal_title：Frontiers in genetics

authors： Giordano C,Morea V,Perli E,d'Amati G

更新日期：2015-03-23 00:00:00

abstract：:Aptamers are single-stranded nucleic acids that specifically recognize and bind tightly to their cognate targets due to their stable three-dimensional structure. Nucleic acid aptamers have been developed for various applications, including diagnostics, molecular imaging, biomarker discovery, target validation, therape...

journal_title：Frontiers in genetics

authors： Zhou J,Bobbin ML,Burnett JC,Rossi JJ

更新日期：2012-11-02 00:00:00

abstract：:Pharmacogenomics is the study of how genes affect a person's response to drugs. Thus, understanding the effect of drug at the molecular level can be helpful in both drug discovery and personalized medicine. Over the years, transcriptome data upon drug treatment has been collected and several databases compiled before ...

journal_title：Frontiers in genetics

authors： Oh M,Park S,Lee S,Lee D,Lim S,Jeong D,Jo K,Jung I,Kim S

更新日期：2020-11-12 00:00:00

abstract：:The genetic resources available for the commercially important fish species Yellowtail kingfish (YTK) (Seriola lalandi) are relative sparse. To overcome this, we aimed (1) to develop a linkage map for this species, and (2) to identify markers/variants associated with economically important traits in kingfish (with an ...

journal_title：Frontiers in genetics

authors： Nguyen NH,Rastas PMA,Premachandra HKA,Knibb W

更新日期：2018-04-17 00:00:00

abstract：:Recently, an increasing number of studies sequence multiple biopsies of primary tumors, and even paired metastatic tumors to understand heterogeneity and the evolutionary trajectory of cancer progression. Although several algorithms are available to infer the phylogeny, most tools rely on accurate measurements of muta...

journal_title：Frontiers in genetics

authors： Wu P,Hou L,Zhang Y,Zhang L

更新日期：2020-02-07 00:00:00

abstract：:Proliferation and differentiation of preadipocyte are essential for the formation of fat tissues. However, the genes that regulate the early stage of preadipocyte differentiation in chicken have remained elusive. Here we identify a novel spliced variant of the DNA methyltransferase Dnmt3a gene, named Dnmt3a3, that con...

journal_title：Frontiers in genetics

authors： Abdalla BA,Li Z,Nie Q

更新日期：2020-02-25 00:00:00

abstract：:Integration of scientific knowledge into negotiations of the Multilateral Environment Agreements (MEAs) is crucial to effective implementation of those MEAs by ensuring uniformity in their terminology. Recent innovations in the field of biotechnology provoked a discussion over "Digital Sequence Information" (DSI) in f...

journal_title：Frontiers in genetics

authors： Kobayashi K,Domon E,Watanabe KN

更新日期：2020-09-16 00:00:00

abstract：:There is evidence of a purifying filter acting in the female germline to prevent the expansion of deleterious mutations in the mitochondrial DNA (mtDNA). Given our poor understanding of this filter, here we investigate the competence of the mouse embryo to eliminate dysfunctional mitochondria. Toward that, mitochondri...

journal_title：Frontiers in genetics

authors： Machado TS,Macabelli CH,Collado MD,Meirelles FV,Guimarães FEG,Chiaratti MR

更新日期：2020-07-15 00:00:00

abstract：Background:Cystinuria is a rare genetic disorder characterized by defective renal reabsorption of cystine, ornithine, arginine, and lysine. The increased urinary excretion of cystine results in the development of cystine urolithiasis (CU). The mutated SLC3A1 and SLC7A9 genes are the cause of CU, a global disorder. Its ...

journal_title：Frontiers in genetics

authors： Li C,Yang Y,Zheng Y,Shen F,Liu L,Li Y,Li L,Zhao Y

更新日期：2020-02-18 00:00:00

abstract：:While efforts to control malaria with available tools have stagnated, and arbovirus outbreaks persist around the globe, the advent of clustered regularly interspaced short palindromic repeat (CRISPR)-based gene editing has provided exciting new opportunities for genetics-based strategies to control these diseases. In ...

journal_title：Frontiers in genetics

authors： Marshall JM,Raban RR,Kandul NP,Edula JR,León TM,Akbari OS

更新日期：2019-10-30 00:00:00

abstract：:In Colchester, Britain's oldest recorded town, during the Roman period there were areas which were clearly used solely as cemeteries. One of the most significant is at Butt Road, which includes a late Roman probable Christian cemetery with an associated building, apparently a church, that overlies and developed from a...

journal_title：Frontiers in genetics

authors： Voong CP,Spencer PS,Navarrete CV,Turner D,Hayrabedyan SB,Crummy P,Holloway E,Wilson MT,Smith PR,Fernández N

更新日期：2017-12-05 00:00:00

abstract：:Tumorigenesis is a multi-step process, involving the acquisition of multiple oncogenic mutations that transform cells, resulting in systemic dysregulation that enables proliferation, invasion, and other cancer hallmarks. The goal of precision medicine is to identify therapeutically-actionable mutations from large-scal...

journal_title：Frontiers in genetics

authors： Laderas TG,Heiser LM,Sönmez K

更新日期：2015-12-23 00:00:00

abstract：:Histone proteins are dynamically modified to mediate a variety of cellular processes including gene transcription, DNA damage repair, and apoptosis. Regulation of these processes occurs through the recruitment of non-histone proteins to chromatin by specific combinations of histone post-translational modifications (PT...

journal_title：Frontiers in genetics

authors： Karch KR,Denizio JE,Black BE,Garcia BA

更新日期：2013-12-20 00:00:00

abstract：:RNA is a unique bio-macromolecule that can both record genetic information and perform biological functions in a variety of molecular processes, including transcription, splicing, translation, and even regulating protein function. RNAs adopt specific three-dimensional conformations to enable their functions. Experimen...

journal_title：Frontiers in genetics

authors： Li B,Cao Y,Westhof E,Miao Z

更新日期：2020-10-26 00:00:00

abstract：:MicroRNAs (miRNAs) undergo high levels of regulation in skeletal muscle development and control skeletal muscle mass, function and metabolism over the lifespan. More recently, the role of long non-coding RNAs (lncRNAs) in skeletal muscle regulation has started to emerge. Following up on our recent study describing the...

journal_title：Frontiers in genetics

authors： Mikovic J,Sadler K,Butchart L,Voisin S,Gerlinger-Romero F,Della Gatta P,Grounds MD,Lamon S

更新日期：2018-11-16 00:00:00

abstract：:The new class of rare variant tests has usually been evaluated assuming perfect genotype information. In reality, rare variant genotypes may be incorrect, and so rare variant tests should be robust to imperfect data. Errors and uncertainty in SNP genotyping are already known to dramatically impact statistical power fo...

journal_title：Frontiers in genetics

authors： Cook K,Benitez A,Fu C,Tintle N

更新日期：2014-04-01 00:00:00

abstract：:Some candidate genes have been robustly reported to be associated with complex traits, such as the fat mass and obesity-associated (FTO) gene on body mass index (BMI), and the fibroblast growth factor 5 (FGF5) gene on blood pressure levels. It is of interest to know whether an environmental factor (E) can attenuate or...

journal_title：Frontiers in genetics

authors： Lin WY,Lin YS,Chan CC,Liu YL,Tsai SJ,Kuo PH

更新日期：2020-05-08 00:00:00

abstract：:Drought alone or in combination with other stresses forms the major crop production constraint worldwide. Sorghum, one of the most important cereal crops is affected by drought alone or in combination with co-occurring stresses; notwithstanding, sorghum has evolved adaptive responses to combined stresses. Furthermore,...

journal_title：Frontiers in genetics

authors： Woldesemayat AA,Ntwasa M

更新日期：2018-11-20 00:00:00

abstract：:The availability of massive amounts of DNA sequence data, from 1000s of genomes even in a single project has had a huge impact on our understanding of biology, but also creates several problems for biologists carrying out those experiments. Bioinformatic analysis of sequence data is perhaps the most obvious challenge ...

journal_title：Frontiers in genetics

authors： Hadfield J,Eldridge MD

更新日期：2014-02-20 00:00:00

abstract：:Leprosy, an infectious disease caused by Mycobacterium leprae, affects millions of people worldwide. However, little is known regarding its molecular pathophysiological mechanisms. In this study, a comprehensive assessment of human mRNA was performed on leprosy skin lesions by using DNA chip microarrays, which include...

journal_title：Frontiers in genetics

authors： Belone Ade F,Rosa PS,Trombone AP,Fachin LR,Guidella CC,Ura S,Barreto JA,Pinilla MG,de Carvalho AF,Carraro DM,Soares FA,Soares CT

更新日期：2015-11-20 00:00:00