Exome Analysis Identified Novel Homozygous Splice Site Donor Alteration in NT5C2 Gene in a Saudi Family Associated With Spastic Diplegia Cerebral Palsy, Developmental Delay, and Intellectual Disability.

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：:The carbon catabolite repression 4 (CCR4)-negative on TATA-less (NOT) complex serves as one of the major deadenylases of eukaryotes. Although it was originally identified and characterized in yeast, recent studies have revealed that the CCR4-NOT complex also exerts important functions in mammals, -including humans. Ho...

journal_title：Frontiers in genetics

authors： Shirai YT,Suzuki T,Morita M,Takahashi A,Yamamoto T

更新日期：2014-08-21 00:00:00

abstract：:The genetic diversity of the sheep breeds in the Arab countries might be considered to be a mirror of the ecology of the region. In this study, the genetic structure and diversity of sheep breeds from Saudi Arabia (Harri, Najdi, Naemi, Arb, and Rufidi) and Awassi sheep from Jordan as an out-group were investigated usi...

journal_title：Frontiers in genetics

authors： Al-Atiyat RM,Aljumaah RS,Alshaikh MA,Abudabos AM

更新日期：2018-09-25 00:00:00

abstract：:The termites evolved eusociality and complex societies before the ants, but have been studied much less. The recent publication of the first two termite genomes provides a unique comparative opportunity, particularly because the sequenced termites represent opposite ends of the social complexity spectrum. Zootermopsis...

journal_title：Frontiers in genetics

authors： Korb J,Poulsen M,Hu H,Li C,Boomsma JJ,Zhang G,Liebig J

更新日期：2015-03-04 00:00:00

abstract：:ncRNAs are key genes in many human diseases including cancer and viral infection, as well as providing critical functions in pathogenic organisms such as fungi, bacteria, viruses, and protists. Until now the identification and characterization of ncRNAs associated with disease has been slow or inaccurate requiring man...

journal_title：Frontiers in genetics

authors： Collins LJ

更新日期：2011-12-27 00:00:00

abstract：:Purpose: The present study examines the role of Sox11 in the initial response of retinal ganglion cells (RGCs) to axon damage and in optic nerve regeneration in mouse. Methods: Markers of retinal injury were identified using the normal retina database and optic nerve crush (ONC) database on GeneNetwork2 (www.genenetwo...

journal_title：Frontiers in genetics

authors： Li Y,Struebing FL,Wang J,King R,Geisert EE

更新日期：2018-12-18 00:00:00

abstract：:The goal of any plant breeding program is to improve quality of a target crop. Crop quality is a comprehensive feature largely determined by biological background. To improve the quality parameters of crops grown for the production of fiber, a functional approach was used to search for genes suitable for the effective...

journal_title：Frontiers in genetics

authors： Galinousky D,Mokshina N,Padvitski T,Ageeva M,Bogdan V,Kilchevsky A,Gorshkova T

更新日期：2020-11-12 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：:The New England Centenarian Study (NECS) was founded in 1994 as a longitudinal study of centenarians to determine if centenarians could be a model of healthy human aging. Over time, the NECS along with other centenarian studies have demonstrated that the majority of centenarians markedly delay high mortality risk-asso...

journal_title：Frontiers in genetics

authors： Sebastiani P,Perls TT

更新日期：2012-11-30 00:00:00

abstract：:Cellular commitment and differentiation involve highly coordinated mechanisms by which tissue-specific genes are activated while others are repressed. These mechanisms rely on the activity of specific transcription factors, chromatin remodeling enzymes, and higher-order chromatin organization in order to modulate tran...

journal_title：Frontiers in genetics

authors： Hernández-Hernández O,Ávila-Avilés RD,Hernández-Hernández JM

更新日期：2020-09-18 00:00:00

abstract：:Ephb6 gene knockout causes hypertension in castrated mice. EPHB6 controls catecholamine secretion by adrenal gland chromaffin cells (AGCCs) in a testosterone-dependent way. Nicotinic acetylcholine receptor (nAChR) is a ligand-gated Ca2+/Na+ channel, and its opening is the first signaling event leading to catecholamine...

journal_title：Frontiers in genetics

authors： Wu T,Wang Y,Shi W,Zhang BQ,Raelson J,Yao YM,Wu HD,Xu ZX,Marois-Blanchet FC,Ledoux J,Blunck R,Sheng JZ,Hu SJ,Luo H,Wu J

更新日期：2020-11-27 00:00:00

abstract：:The codon redundancy ("degeneracy") found in protein-coding regions of mRNA also prescribes Translational Pausing (TP). When coupled with the appropriate interpreters, multiple meanings and functions are programmed into the same sequence of configurable switch-settings. This additional layer of Ontological Prescriptiv...

journal_title：Frontiers in genetics

authors： D'Onofrio DJ,Abel DL

更新日期：2014-05-20 00:00:00

abstract：:Across species and tissues and especially in the mammalian brain, production of gene isoforms is widespread. While gene expression coordination has been previously described as a scale-free coexpression network, the properties of transcriptome-wide isoform production coordination have been less studied. Here we evalua...

journal_title：Frontiers in genetics

authors： Iancu OD,Colville A,Oberbeck D,Darakjian P,McWeeney SK,Hitzemann R

更新日期：2015-05-13 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：:The aging of the population represents one of the largest healthcare challenges facing the world today. The available scientific evidence shows that interventions are available now that can target fundamental "aging" processes or pathways. Sufficient economic evidence is available to argue convincingly that this appro...

journal_title：Frontiers in genetics

authors： Faragher RG

更新日期：2015-07-14 00:00:00

abstract：:This study examined reasons for participation in a genetic study of risk for multiple sclerosis (MS). Our sample consisted of 101 patients diagnosed with MS who were approached about enrolling in the Multiple Sclerosis Genetic Susceptibility Study. Participants were predominantly Hispanic (80%), female (80%), and well...

journal_title：Frontiers in genetics

authors： Cuccaro ML,Manrique CP,Quintero MA,Martinez R,McCauley JL

更新日期：2020-03-13 00:00:00

abstract：:Reliable phenotypes are paramount for meaningful quantification of genetic variation and for estimating individual breeding values on which genetic selection is based. In this paper, we assert that genetic improvement of host tolerance to disease, although desirable, may be first of all handicapped by the ability to o...

journal_title：Frontiers in genetics

authors： Doeschl-Wilson AB,Villanueva B,Kyriazakis I

更新日期：2012-12-14 00:00:00

abstract：:Nanopore sequencing from Oxford Nanopore Technologies (ONT) and Pacific BioSciences (PacBio) single-molecule real-time (SMRT) long-read isoform sequencing (Iso-Seq) are revolutionizing the way transcriptomes are analyzed. These methods offer many advantages over most widely used high-throughput short-read RNA sequenci...

journal_title：Frontiers in genetics

authors： Zhao L,Zhang H,Kohnen MV,Prasad KVSK,Gu L,Reddy ASN

更新日期：2019-03-21 00:00:00

abstract：:Accumulating evidence show that Poly C Binding Protein 1 (PCBP1) is deleted in distinct types of tumors as a novel tumor suppressor, but its tumor suppression mechanism remains elusive. Here, we firstly describe that downregulation of PCBP1 is significantly associated with clinical ovarian tumor progression. Mechanist...

journal_title：Frontiers in genetics

authors： Zhang W,Zhang S,Guan W,Huang Z,Kong J,Huang C,Wang H,Yang S

更新日期：2020-08-14 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：:Detection of differentially expressed genes is a common task in single-cell RNA-seq (scRNA-seq) studies. Various methods based on both bulk-cell and single-cell approaches are in current use. Due to the unique distributional characteristics of single-cell data, it is important to compare these methods with rigorous st...

journal_title：Frontiers in genetics

authors： Mou T,Deng W,Gu F,Pawitan Y,Vu TN

更新日期：2020-01-17 00:00:00

abstract：:Identifying driver genes that contribute to cancer progression from numerous passenger genes, although a central goal, is a major challenge. The protein-protein interaction network provides convenient and reasonable assistance for driver gene discovery. Random walk-based methods have been widely used to prioritize nod...

journal_title：Frontiers in genetics

authors： Wei PJ,Wu FX,Xia J,Su Y,Wang J,Zheng CH

更新日期：2020-04-28 00:00:00

abstract：:Predicting how species interactions evolve requires that we understand the mechanistic basis of coevolution, and thus the functional genotype-by-genotype interactions (G × G) that drive reciprocal natural selection. Theory on host-parasite coevolution provides testable hypotheses for empiricists, but depends upon mode...

journal_title：Frontiers in genetics

authors： Heath KD,Nuismer SL

更新日期：2014-04-11 00:00:00

abstract：:THE DIAGNOSIS OF A SUSPECTED TUMOR LESION FACES TWO BASIC PROBLEMS: detection and identification of the specific type of tumor. Radiological techniques are commonly used for the detection and localization of solid tumors. Prerequisite is a high intrinsic or enhanced contrast between normal and neoplastic tissue. Ident...

journal_title：Frontiers in genetics

authors： Dominietto M,Rudin M

更新日期：2014-01-13 00:00:00

abstract：:The prophase of meiosis I ensures the correct segregation of chromosomes to each daughter cell. This includes the pairing, synapsis, and recombination of homologous chromosomes. A subset of chromosomal abnormalities, including translocation and inversion, disturbs these processes, resulting in the failure to complete ...

journal_title：Frontiers in genetics

authors： Kurahashi H,Kogo H,Tsutsumi M,Inagaki H,Ohye T

更新日期：2012-06-18 00:00:00

abstract：:A balanced pericentric inversion is normally without any clinical consequences for its carrier. However, there is a well-known risk of such inversions to lead to unbalanced offspring. Inversion-loop formation is the mechanism which may lead to duplication or deletion of the entire or parts of the inverted segment in t...

journal_title：Frontiers in genetics

authors： Liehr T,Weise A,Mrasek K,Ziegler M,Padutsch N,Wilhelm K,Al-Rikabi A

更新日期：2019-11-14 00:00:00

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：:Pathway-centric approaches are widely used to interpret and contextualize -omics data. However, databases contain different representations of the same biological pathway, which may lead to different results of statistical enrichment analysis and predictive models in the context of precision medicine. We have performe...

journal_title：Frontiers in genetics

authors： Mubeen S,Hoyt CT,Gemünd A,Hofmann-Apitius M,Fröhlich H,Domingo-Fernández D

更新日期：2019-11-22 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：:Hematopoiesis results in the correct formation of all the different blood cell types. In mammals, it starts from specific hematopoietic stem and precursor cells residing in the bone marrow. Mature blood cells are responsible for supplying oxygen to every cell of the organism and for the protection against pathogens. T...

journal_title：Frontiers in genetics

authors： Rissone A,Burgess SM

更新日期：2018-08-31 00:00:00