Identification of Pathogenic Mutations and Investigation of the NOTCH Pathway Activation in Kartagener Syndrome.

abstract：:The goal of this work was to determine the effect of nonablative syngeneic transplantation of young bone marrow (BM) to laboratory animals (mice) of advanced age upon maximum duration of their lifespan. To do this, transplantation of 100 million nucleated cells from BM of young syngeneic donors to an old nonablated an...

journal_title：Frontiers in genetics

authors： Kovina MV,Karnaukhov AV,Krasheninnikov ME,Kovin AL,Gazheev ST,Sergievich LA,Karnaukhova EV,Bogdanenko EV,Balyasin MV,Khodarovich YM,Dyuzheva TG,Lyundup AV

更新日期：2019-04-12 00:00:00

abstract：:Therapeutic applications of CRISPR-Cas9 gene editing have spurred innovation in Cas9 enzyme engineering and single guide RNA (sgRNA) design algorithms to minimize potential off-target events. While recent work in rodents outlines favorable conditions for specific editing and uses a trio design (mother, father, offspri...

journal_title：Frontiers in genetics

authors： Mooney MR,Davis EE,Katsanis N

更新日期：2019-10-11 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：:Challenges in diagnosing primary immunodeficiency are numerous and diverse, with current whole-exome and whole-genome sequencing approaches only able to reach a molecular diagnosis in 25-60% of cases. We assess these problems and discuss how RNA-focused analysis has expanded and improved in recent years and may now be...

journal_title：Frontiers in genetics

authors： Lye JJ,Williams A,Baralle D

更新日期：2019-12-11 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：:Rodent models have been extensively used to investigate the cause and mechanisms behind Alzheimer's disease. Despite many years of intensive research using these models we still lack a detailed understanding of the molecular events that lead to neurodegeneration. Although zebrafish lack the complexity of advanced cogn...

journal_title：Frontiers in genetics

authors： Newman M,Ebrahimie E,Lardelli M

更新日期：2014-06-30 00:00:00

abstract：:Different genes have their protein products localized in various subcellular compartments. The diversity in protein localization may serve as a gene characteristic, revealing gene essentiality from a subcellular perspective. To measure this diversity, we introduced a Subcellular Diversity Index (SDI) based on the Gene...

journal_title：Frontiers in genetics

authors： Jia K,Zhou Y,Cui Q

更新日期：2020-01-21 00:00:00

abstract：:Retinoblastoma (Rb) is a primary intraocular malignant tumor that occurs primarily in children, and results from loss-of-function mutations in the RB transcriptional corepressor 1 (RB1) gene. Genetic testing forms the basis of genetic counseling for affected families, as well as for clinical management of this disease...

journal_title：Frontiers in genetics

authors： Lan X,Xu W,Tang X,Ye H,Song X,Lin L,Ren X,Yu G,Zhang H,Wu S

更新日期：2020-03-11 00:00:00

abstract：:People want to live long, healthy lives. Previous surveys suggest very limited interest in much longer lifespans, but we show that stipulating good health changes responses to favor longer lives by an order of magnitude. Advances in aging research hold out hope for greatly slowed aging with associated good health. Und...

journal_title：Frontiers in genetics

authors： Donner Y,Fortney K,Calimport SR,Pfleger K,Shah M,Betts-LaCroix J

更新日期：2016-01-20 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：: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：:Anther extrusion (AE) is the most important male floral trait for hybrid wheat seed production. AE is a complex quantitative trait that is difficult to phenotype reliably in field experiments not only due to high genotype-by-environment effects but also due to the short expression window in the field condition. In thi...

journal_title：Frontiers in genetics

authors： Adhikari A,Basnet BR,Crossa J,Dreisigacker S,Camarillo F,Bhati PK,Jarquin D,Manes Y,Ibrahim AMH

更新日期：2020-12-08 00:00:00

abstract：:Commensal gut bacteria in many species including flies are integral part of their host, and are known to influence its development and homeostasis within generation. Here we report an unexpected impact of host-microbe interactions, which mediates multi-generational, non-Mendelian inheritance of a stress-induced phenot...

journal_title：Frontiers in genetics

authors： Fridmann-Sirkis Y,Stern S,Elgart M,Galili M,Zeisel A,Shental N,Soen Y

更新日期：2014-02-25 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：: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：: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：:Pathogenic microorganism analysis based on next-generation sequencing technology is an important tool for clinical diagnosis, public health surveillance, and outbreak investigation. However, scientific researchers without the relevant background lack the time, training, or infrastructure to use large data sets or inst...

journal_title：Frontiers in genetics

authors： Han N,Miao J,Zhang T,Qiang Y,Peng X,Li X,Zhang W

更新日期：2020-08-31 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：: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：:There is a paradigm shift from the traditional focus on the "average" individual towards the definition and analysis of trait variation within individual life-history and among individuals in populations. This is a result of increasing availability of individual phenotypic data. The shift allows the use of genetic and...

journal_title：Frontiers in genetics

authors： Filipe JAN,Kyriazakis I

更新日期：2019-09-20 00:00:00

abstract：:Zeng et al. (2005) proposed a general two-allele (G2A) model to model bi-allelic quantitative trait loci (QTL). Comparing with the classical Fisher model, the G2A model can avoid using redundant parameters and be fitted directly using standard least square (LS) approach. In this study, we further extend the G2A model ...

journal_title：Frontiers in genetics

authors： Wang T

更新日期：2014-09-25 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：:The interaction of miRNA and lncRNA is known to be important for gene regulations. However, the number of known lncRNA-miRNA interactions is still very limited and there are limited computational tools available for predicting new ones. Considering that lncRNAs and miRNAs share internal patterns in the partnership bet...

journal_title：Frontiers in genetics

authors： Huang YA,Huang ZA,You ZH,Zhu Z,Huang WZ,Guo JX,Yu CQ

更新日期：2019-08-29 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：: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：Objective:Recessive genetic diseases impose physical and psychological impacts to both newborns and parents who may not be aware of being carriers. Expanded carrier screening (ECS) allows screening for multiple genetic conditions at the same time. Whether or not such non-targeted panethnic approach of genetic carrier s...

journal_title：Frontiers in genetics

authors： Cheng HYH,Wong GCY,Chan YK,Lee CP,Tang MHY,Ng EH,Kan AS

更新日期：2020-11-16 00:00:00

abstract：:The diagnosis of mesothelioma is not always straightforward, despite known immunohistochemical markers and other diagnostic techniques. One reason for the difficulty is that extrapleural tumors resembling mesothelioma may have several possible etiologies, especially in cases with no meaningful history of amphibole asb...

journal_title：Frontiers in genetics

authors： Kerger BD,James RC,Galbraith DA

更新日期：2014-05-30 00:00:00

abstract：:The adaptation of the yeast Saccharomyces cerevisiae to man-made environments for the fermentation of foodstuffs and beverages illustrates the scientific, social, and economic relevance of microbe domestication. Here we address a yet unexplored aspect of S. cerevisiae domestication, that of the emergence of lineages h...

journal_title：Frontiers in genetics

authors： Pontes A,Čadež N,Gonçalves P,Sampaio JP

更新日期：2019-05-29 00:00:00

abstract：:Cardiovascular diseases are a leading cause of morbidity and mortality in Western societies. It is now well established that microRNAs (miRNAs) are determinant regulators in various medical conditions including cardiovascular diseases. The recent discovery that miRNAs, while associated with different carriers, can be ...

journal_title：Frontiers in genetics

authors： Kinet V,Halkein J,Dirkx E,Windt LJ

更新日期：2013-11-12 00:00:00

abstract：:Communication disorders have complex genetic origins, with constellations of relevant gene markers that vary across individuals. Some genetic variants are present in healthy individuals as well as those affected by developmental disorders. Growing evidence suggests that some variants may increase susceptibility to the...

journal_title：Frontiers in genetics

authors： Centanni TM,Green JR,Iuzzini-Seigel J,Bartlett CW,Hogan TP

更新日期：2015-08-24 00:00:00