The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.

abstract：:Genetic variants can influence the expression of mRNA and protein. Genetic regulatory loci such as expression quantitative trait loci (eQTLs) and protein quantitative trait loci (pQTLs) exist in several species. However, it remains unclear how human genetic variants regulate mRNA and protein expression. Here, we chara...

journal_title：Frontiers in genetics

authors： Wang Y,He B,Zhao Y,Reiter JL,Chen SX,Simpson E,Feng W,Liu Y

更新日期：2019-09-10 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：: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：:As one of the hotspot regions for sympatric speciation studies, Evolution Canyon (EC) became an ideal place for its high level of microclimatic divergence interslopes. In this study, to highlight the genetic mechanisms of sympatric speciation, phenotypic variation on flowering time and transcriptomic divergence were i...

journal_title：Frontiers in genetics

authors： Qian C,Yan X,Yin H,Fan X,Yin X,Sun P,Li Z,Nevo E,Ma XF

更新日期：2018-11-14 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：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：:[This corrects the article DOI: 10.3389/fgene.2018.00657.]. ...

journal_title：Frontiers in genetics

authors： Cheng L,Zhuang H,Yang S,Jiang H,Wang S,Zhang J

更新日期：2019-02-18 00:00:00

abstract：:The fragile X premutation (PM) allele contains a CGG expansion of 55-200 repeats in the FMR1 gene's promoter. Male PM carriers have an elevated risk of developing neurological and psychiatric changes, including an approximately 50% risk of the fragile X-associated tremor/ataxia syndrome (FXTAS). The aim of this study ...

journal_title：Frontiers in genetics

authors： Loesch DZ,Trost N,Bui MQ,Hammersley E,Lay ST,Annesley SJ,Sanislav O,Allan CY,Tassone F,Chen ZP,Ngoei KRW,Kemp BE,Francis D,Fisher PR,Storey E

更新日期：2018-11-12 00:00:00

abstract：:With the availability of high-throughput sequencing data, identification of genetic causal variants accurately requires the efficient incorporation of function annotation data into the optimization routine. This motivates the need for development of novel methods for genome wide association studies with special focus ...

journal_title：Frontiers in genetics

authors： Sundar VS,Fan CC,Holland D,Dale AM

更新日期：2018-03-05 00:00:00

abstract：AIMS/HYPOTHESIS:Genome-wide association studies have identified over 50 new genetic loci for type 2 diabetes (T2D). Several studies conclude that higher dietary heme iron intake increases the risk of T2D. Therefore we assessed whether the relation between genetic loci and T2D is modified by dietary heme iron intake. M...

journal_title：Frontiers in genetics

authors： Pasquale LR,Loomis SJ,Aschard H,Kang JH,Cornelis MC,Qi L,Kraft P,Hu FB

更新日期：2013-01-30 00:00:00

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：:Lumbar disc degeneration (LDD) is age-related break-down in the fibrocartilaginous joints between lumbar vertebrae. It is a major cause of low back pain and is conventionally assessed by magnetic resonance imaging (MRI). Like most other complex traits, LDD is likely polygenic and influenced by both genetic and environ...

journal_title：Frontiers in genetics

authors： Zhou X,Cheung CL,Karasugi T,Karppinen J,Samartzis D,Hsu YH,Mak TS,Song YQ,Chiba K,Kawaguchi Y,Li Y,Chan D,Cheung KM,Ikegawa S,Cheah KS,Sham PC

更新日期：2018-08-03 00:00:00

abstract：:The SLC2A9 gene, that encodes a renal uric acid reuptake transporter, has genetic variants that explain ∼3% of variance in urate levels. There are previous reports of non-additive interaction between SLC2A9 genotype and environmental factors which influence urate control. Therefore, our aim was to further investigate ...

journal_title：Frontiers in genetics

authors： Topless RK,Flynn TJ,Cadzow M,Stamp LK,Dalbeth N,Black MA,Merriman TR

更新日期：2015-10-14 00:00:00

abstract：:Melastoma malabathricum is an important medicinal and landscape plant that is globally distributed in temperate and subtropical regions. However, available genomic information for the entire Melastomataceae family is notably limited. In view of the application potential of floral parts in secondary metabolite extracti...

journal_title：Frontiers in genetics

authors： Zheng T,Lin Y,Wang L,Lin Q,Lin X,Chen Z,Lin Z

更新日期：2019-06-19 00:00:00

abstract：:Tumor-infiltrating T-lymphocytes are defined as T-lymphocytes that infiltrated into tumor tissues; however, their composition, clinical significance, and underlying mechanism in hepatocellular carcinoma (HCC) and adjacent non-tumor tissues are still not completely understood. Herein, we collected marker genes of T cel...

journal_title：Frontiers in genetics

authors： Li J,Zhou J,Kai S,Wang C,Wang D,Jiang J

更新日期：2020-09-30 00:00:00

abstract：:Inverted repeat (IR) regions in the plastomes from land plants induce homologous recombination, generating isomeric plastomes. While the plastomes of Taxaceae species often lose one of the IR regions, considerable isomeric plastomes were created in Taxaceae species with a hitherto unclarified mechanism. To investigate...

journal_title：Frontiers in genetics

authors： Zhang Y,Xu Y,Chen H,Wang L,Yin K,Du FK

更新日期：2020-01-14 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：:Accurate inference of causal gene regulatory networks from gene expression data is an open bioinformatics challenge. Gene interactions are dynamical processes and consequently we can expect that the effect of any regulation action occurs after a certain temporal lag. However such lag is unknown a priori and temporal a...

journal_title：Frontiers in genetics

authors： Lopes M,Bontempi G

更新日期：2013-12-24 00:00:00

abstract：:Pearl millet is a climate-resilient, drought-tolerant crop capable of growing in marginal environments of arid and semi-arid regions globally. Pearl millet is a staple food for more than 90 million people living in poverty and can address the triple burden of malnutrition substantially. It remained a neglected crop un...

journal_title：Frontiers in genetics

authors： Srivastava RK,Singh RB,Pujarula VL,Bollam S,Pusuluri M,Chellapilla TS,Yadav RS,Gupta R

更新日期：2020-02-28 00:00:00

abstract：:Classification of DNA sequences is an important issue in the bioinformatics study, yet most existing methods for phylogenetic analysis including Multiple Sequence Alignment (MSA) are time-consuming and computationally expensive. The alignment-free methods are popular nowadays, whereas the manual intervention in those ...

journal_title：Frontiers in genetics

authors： Dong R,He L,He RL,Yau SS

更新日期：2019-04-09 00:00:00

abstract：:Technological advances over the past decade have unraveled the remarkable complexity of RNA. The identification of small peptides encoded by long non-coding RNAs (lncRNAs) as well as regulatory functions mediated by non-coding regions of mRNAs have further complicated our understanding of the multifaceted functions of...

journal_title：Frontiers in genetics

authors： Li J,Liu C

更新日期：2019-05-22 00:00:00

abstract：:The Flavivirus genus comprises many viruses (including dengue, Zika, West Nile and yellow fever viruses) which constitute important public health concerns worldwide. For several of these pathogens, neither antivirals nor vaccines are currently available. In addition to this unmet medical need, flaviviruses are of part...

journal_title：Frontiers in genetics

authors： Mazeaud C,Freppel W,Chatel-Chaix L

更新日期：2018-12-04 00:00:00

abstract：:Environmental exposures vary by timing, severity, and frequency and may have a number of deleterious effects throughout the life course. The period of in utero development, for example, is one of the most crucial stages of development during which adverse environmental exposures can both alter the growth and developme...

journal_title：Frontiers in genetics

authors： Maccani MA,Knopik VS

更新日期：2012-04-09 00:00:00

abstract：Background:Cross-sectional observational studies have reported obesity and cardiometabolic co-morbidities as important predictors of coronavirus disease 2019 (COVID-19) hospitalization. The causal impact of these risk factors is unknown at present. Methods:We conducted multivariable logistic regression to evaluate the...

journal_title：Frontiers in genetics

authors： Aung N,Khanji MY,Munroe PB,Petersen SE

更新日期：2020-11-11 00:00:00

abstract：:Tools for genomic island prediction use strategies for genomic comparison analysis and sequence composition analysis. The goal of comparative analysis is to identify unique regions in the genomes of related organisms, whereas sequence composition analysis evaluates and relates the composition of specific regions with ...

journal_title：Frontiers in genetics

authors： da Silva Filho AC,Raittz RT,Guizelini D,De Pierri CR,Augusto DW,Dos Santos-Weiss ICR,Marchaukoski JN

更新日期：2018-12-12 00:00:00

abstract：:The microbiome is known to have a profound effect on the development, physiology and health of its host. Whether and how it also contributes to evolutionary diversification of the host is, however, unclear. Here we hypothesize that disruption of the microbiome by new stressful environments interferes with host-microbe...

journal_title：Frontiers in genetics

authors： Soen Y

更新日期：2014-06-20 00:00:00

abstract：:The number of vertebrae, especially thoracic vertebrae, is an important economic trait that may influence carcass length and meat production in animals. However, the genetic basis of vertebrae number in sheep is still poorly understood. To detect the candidate genes, 400 increased number of thoracic vertebrae (T14L6) ...

journal_title：Frontiers in genetics

authors： Li C,Li M,Li X,Ni W,Xu Y,Yao R,Wei B,Zhang M,Li H,Zhao Y,Liu L,Ullah Y,Jiang Y,Hu S

更新日期：2019-07-18 00:00:00

abstract：:A within-breed genome-wide association study (GWAS) is useful when identifying the QTL that segregates in a breed. However, an across-breed meta-analysis can be used to increase the power of identification and precise localization of QTL that segregate in multiple breeds. Precise localization will allow including QTL ...

journal_title：Frontiers in genetics

authors： Marete AG,Guldbrandtsen B,Lund MS,Fritz S,Sahana G,Boichard D

更新日期：2018-11-06 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：: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