A Combined in silico, in vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa.

abstract：:The timing of the transition to flowering is carefully controlled by plants in order to optimize sexual reproduction and the ensuing production of seeds, grains, and fruits. The genetic networks that regulate floral induction are best characterized in the temperate eudicot Arabidopsis in which the florigen gene FT pla...

journal_title：Frontiers in genetics

authors： Jaudal M,Zhang L,Che C,Putterill J

更新日期：2015-02-19 00:00:00

abstract：:The megadiversity of the neotropical ichthyofauna has been associated to recent diversification processes, reflecting in subtle or lacking morphological differentiation between species, challenging the classical taxonomic identification. Leporinus friderici occurs in several river basins of South America, and its nomi...

journal_title：Frontiers in genetics

authors： Silva-Santos R,Ramirez JL,Galetti PM Jr,Freitas PD

更新日期：2018-02-15 00:00:00

abstract：:Genotype imputation is a powerful tool for increasing statistical power in an association analysis. Meta-analysis of multiple study datasets also requires a substantial overlap of SNPs for a successful association analysis, which can be achieved by imputation. Quality of imputed datasets is largely dependent on the so...

journal_title：Frontiers in genetics

authors： Schurz H,Müller SJ,van Helden PD,Tromp G,Hoal EG,Kinnear CJ,Möller M

更新日期：2019-02-05 00:00:00

abstract：:Aberrant, misfolded, and mislocalized proteins are often toxic to cells and result in many human diseases. All proteins and their mRNA templates are subject to quality control. There are several distinct mechanisms that control the quality of mRNAs and proteins during translation at the ribosome. mRNA quality control ...

journal_title：Frontiers in genetics

authors： Karamyshev AL,Karamysheva ZN

更新日期：2018-10-04 00:00:00

abstract：:Olfactory receptors (ORs) are a type of GTP-binding protein-coupled receptor (GPCR). These receptors are responsible for mediating the sense of smell through their interaction with odor ligands. OR-odorant interactions marks the first step in the process that leads to olfaction. Computational studies on model OR struc...

journal_title：Frontiers in genetics

authors： Lai PC,Crasto CJ

更新日期：2012-05-03 00:00:00

abstract：:Human malnutrition due to micronutrient deficiencies, particularly with regards to Zinc (Zn) and Selenium (Se), affects millions of people around the world, and the enrichment of staple foods through biofortification has been successfully used to fight hidden hunger. Rice (Oryza sativa L.) is one of the staple foods m...

journal_title：Frontiers in genetics

authors： Roda FA,Marques I,Batista-Santos P,Esquível MG,Ndayiragije A,Lidon FC,Swamy BPM,Ramalho JC,Ribeiro-Barros AI

更新日期：2020-07-07 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：:Werner syndrome (WS) is a rare human autosomal recessive premature aging disorder characterized by early onset of aging-associated diseases, chromosomal instability, and cancer predisposition. The function of the DNA helicase encoded by WRN, the gene responsible for WS, has been studied extensively. WRN helicase is in...

journal_title：Frontiers in genetics

authors： Shimamoto A,Yokote K,Tahara H

更新日期：2015-01-29 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：: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：: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：:Autoimmune encephalitis (AE) is a severe neurological disease. The brain of the AE patient is attacked by a dysregulated immune system, which is caused by the excessive production of autoantibodies against neuronal receptors and synaptic proteins. AE is also characterized by the uncontrolled B lymphocyte infiltration ...

journal_title：Frontiers in genetics

authors： Tsai MH,Lin CH,Tsai KW,Lin MH,Ho CJ,Lu YT,Weng KP,Lin Y,Lin PH,Li SC

更新日期：2019-11-22 00:00:00

abstract：:In this case report, we characterize a novel inherited frameshift mutation c.4700_4701del (p.Phe1567Cysfs*221) in a single copy of the SCN5A gene and its association with Brugada syndrome (BrS). The proband experienced a life-threatening ventricular arrhythmia successfully treated with DC-shock and he also suffered fr...

journal_title：Frontiers in genetics

authors： Micaglio E,Monasky MM,Ciconte G,Vicedomini G,Conti M,Mecarocci V,Giannelli L,Giordano F,Pollina A,Saviano M,Pozzi PR,Di Resta C,Benedetti S,Ferrari M,Santinelli V,Pappone C

更新日期：2019-06-06 00:00:00

abstract：:Various patterns of multi-phenotype associations (MPAs) exist in the results of Genome Wide Association Studies (GWAS) involving different topologies of single nucleotide polymorphism (SNP)-phenotype associations. These can provide interesting information about the different impacts of a gene on closely related phenot...

journal_title：Frontiers in genetics

authors： Weighill D,Jones P,Bleker C,Ranjan P,Shah M,Zhao N,Martin M,DiFazio S,Macaya-Sanz D,Schmutz J,Sreedasyam A,Tschaplinski T,Tuskan G,Jacobson D

更新日期：2019-05-10 00:00:00

abstract：:Fragile X-associated primary ovarian insufficiency (FXPOI) occurs in about 20% of women who carry a premutation allele (55-200 CGG repeats). These women develop hypergonadotropic hypogonadism and have secondary amenorrhea before age 40. A non-linear association with repeat size and risk for FXPOI has been seen in mult...

journal_title：Frontiers in genetics

authors： Allen EG,Glicksman A,Tortora N,Charen K,He W,Amin A,Hipp H,Shubeck L,Nolin SL,Sherman SL

更新日期：2018-08-03 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：:Fibroblast growth factor 23 (FGF23), which is involved in the regulation of vitamin D, is an emerging independent risk factor for cardiovascular diseases. Previous studies have demonstrated a positive association between FGF23 and stroke. In this study, we aimed to assess the association of FGF23 with ischemic stroke ...

journal_title：Frontiers in genetics

authors： Zheng K,Lin L,Cui P,Liu T,Chen L,Yang C,Jiang W

更新日期：2020-12-23 00:00:00

abstract：:Rheumatoid arthritis (RA) is a systemic autoimmune disease that affects about 1% of the world's population. The etiology of RA remains unknown. It is considered to occur in the presence of genetic and environmental factors. An increasing body of evidence pinpoints that epigenetic modifications play an important role i...

journal_title：Frontiers in genetics

authors： Nemtsova MV,Zaletaev DV,Bure IV,Mikhaylenko DS,Kuznetsova EB,Alekseeva EA,Beloukhova MI,Deviatkin AA,Lukashev AN,Zamyatnin AA Jr

更新日期：2019-06-14 00:00:00

abstract：:Hox genes are major regulators of embryonic development. One of their most conserved functions is to coordinate the formation of specific body structures along the anterior-posterior (AP) axis in Bilateria. This architectural role was at the basis of several morphological innovations across bilaterian evolution. In th...

journal_title：Frontiers in genetics

authors： Merabet S,Galliot B

更新日期：2015-08-18 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：Background:Lung disease phenotype varies widely even in the F508del (homozygous) genotype. Leukocyte-driven inflammation is important for pulmonary disease pathogenesis in cystic fibrosis (CF). Blood cytokines correlate negatively with pulmonary function in F508del homozygous patients, and gap junction proteins (GJA) m...

journal_title：Frontiers in genetics

authors： Horn T,Ludwig M,Eickmeier O,Neerinex AH,Maitland-van der Zee AH,Smaczny C,Wagner TOF,Schubert R,Zielen S,Majoor C,Bos LD,Schmitt-Grohé S

更新日期：2020-10-28 00:00:00

abstract：:Empirical evidence is limited on whether allopolyploid species combine or merge parental adaptations to broaden habitats. The allopolyploid Arabidopsis kamchatica is a hybrid of the two diploid parents Arabidopsis halleri and Arabidopsis lyrata. A. halleri is a facultative heavy metal hyperaccumulator, and may be foun...

journal_title：Frontiers in genetics

authors： Paape T,Akiyama R,Cereghetti T,Onda Y,Hirao AS,Kenta T,Shimizu KK

更新日期：2020-09-30 00:00:00

abstract：:Large-scale tumor genome sequencing projects have revealed a complex landscape of genomic mutations in multiple cancer types. A major goal of these projects is to characterize somatic mutations and discover cancer drivers, thereby providing important clues to uncover diagnostic or therapeutic targets for clinical trea...

journal_title：Frontiers in genetics

authors： Chen L,Miao Y,Liu M,Zeng Y,Gao Z,Peng D,Hu B,Li X,Zheng Y,Xue Y,Zuo Z,Xie Y,Ren J

更新日期：2018-07-17 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：:The goal of this review is to discuss how behavioral tests in mice relate to the pathological and neuropsychological features seen in human Alzheimer's disease (AD), and present a comprehensive analysis of the temporal progression of behavioral impairments in commonly used AD mouse models that contain mutations in amy...

journal_title：Frontiers in genetics

authors： Webster SJ,Bachstetter AD,Nelson PT,Schmitt FA,Van Eldik LJ

更新日期：2014-04-23 00:00:00

abstract：:Beef tenderness, a complex trait affected by many factors, is economically important to beef quality, industry, and consumer's palatability. In this study, RNA-Seq was used in network analysis to better understand the biological processes that lead to differences in beef tenderness. Skeletal muscle transcriptional pro...

journal_title：Frontiers in genetics

authors： Gonçalves TM,de Almeida Regitano LC,Koltes JE,Cesar ASM,da Silva Andrade SC,Mourão GB,Gasparin G,Moreira GCM,Fritz-Waters E,Reecy JM,Coutinho LL

更新日期：2018-10-05 00:00:00

abstract：Background:Genetic association studies have identified single nucleotide polymorphisms (SNPs) related to chronic obstructive pulmonary disease (COPD) susceptibility. The aim of this study was to identify HHIP genetic variants associated with COPD, pulmonary function, and serum and sputum HHIP protein levels in Mexican ...

journal_title：Frontiers in genetics

authors： Ortega-Martínez A,Pérez-Rubio G,Ambrocio-Ortiz E,Nava-Quiroz KJ,Hernández-Zenteno RJ,Abarca-Rojano E,Rodríguez-Llamazares S,Hernández-Pérez A,García-Gómez L,Ramírez-Venegas A,Falfán-Valencia R

更新日期：2020-09-24 00:00:00

abstract：:The multi-subunit protein complex, cohesin, is responsible for sister chromatid cohesion during cell division. The interaction of cohesin with DNA is controlled by a number of additional regulatory proteins. Mutations in cohesin, or its regulators, cause a spectrum of human developmental syndromes known as the "cohesi...

journal_title：Frontiers in genetics

authors： Horsfield JA,Print CG,Mönnich M

更新日期：2012-09-12 00:00:00

abstract：:The autotetraploid fish (4n = 200, RRRR) (abbreviated as 4nRR) resulted from the whole genome duplication of red crucian carp (Carassius auratus red var., 2n = 100, RR) (abbreviated as RCC). During investigation of the influence of polyploidization on organization and evolution of the multigene family of 5S rDNA, mole...

journal_title：Frontiers in genetics

authors： Qin Q,Liu Q,Wang C,Cao L,Zhou Y,Qin H,Zhao C,Liu S

更新日期：2019-05-15 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