Exploring the RNA Gap for Improving Diagnostic Yield in Primary Immunodeficiencies.

abstract：:The epithelial-mesenchymal transition (EMT) describes a reversible switch from an epithelial-like to a mesenchymal-like phenotype. It is essential for the development of the normal epithelium and also contributes to the invasive properties of carcinomas. At the molecular level, the EMT transition is characterized by a...

journal_title：Frontiers in genetics

authors： Kim JE,Leung E,Baguley BC,Finlay GJ

更新日期：2013-05-31 00:00:00

abstract：:Homozygous and compound heterozygous mutations in GNB5 gene have been associated with a wide spectrum of clinical presentations, ranging from neurodevelopmental issues with or without cardiac arrhythmia (LADCI) to severe developmental delay with epileptic encephalopathy, retinal dystrophy, and heart rhythm abnormaliti...

journal_title：Frontiers in genetics

authors： Sciacca FL,Ciaccio C,Fontana F,Strano C,Gilardoni F,Pantaleoni C,D'Arrigo S

更新日期：2020-05-13 00:00:00

abstract：:Organ size and architecture of plants are important traits affecting crop yield and agronomic practices. An induced mutant, multiple-organ gigantism (MOG), of black gram (Vigna mungo) has been obtained, which shows gigantic leaves, fruit, seed, and architecture (plant height) but lower number of pods per plant. These ...

journal_title：Frontiers in genetics

authors： Somta P,Chen J,Yimram T,Yundaeng C,Yuan X,Tomooka N,Chen X

更新日期：2020-06-30 00:00:00

abstract：:In 2017 the Swiss federal government established the Swiss Personalized Health Network (SPHN), a nationally coordinated data infrastructure for genetic research. The SPHN advisory group on Ethical, Legal, and Social Implications (ELSI) was tasked with the creation of a recommendation to ensure ethically responsible re...

journal_title：Frontiers in genetics

authors： Blasimme A,Brall C,Vayena E

更新日期：2020-12-11 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：:2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) is a persistent environmental toxicant and endocrine disrupting compound with reproductive and developmental effects in humans and model organisms, including zebrafish. Our previous microarray and histological studies found defects in spermatogenesis and fertility of zebrafis...

journal_title：Frontiers in genetics

authors： Akemann C,Meyer DN,Gurdziel K,Baker TR

更新日期：2019-01-11 00:00:00

abstract：:The often-used A(C)E model that decomposes phenotypic variance into parts due to additive genetic and environmental influences can be extended to a longitudinal model when the trait has been assessed at multiple occasions. This enables inference about the nature (e.g., genetic or environmental) of the covariance among...

journal_title：Frontiers in genetics

authors： Schwabe I,Gu Z,Tijmstra J,Hatemi P,Pohl S

更新日期：2019-10-16 00:00:00

abstract：:A considerable volume of research over the last decade has focused on understanding the fundamental mechanisms for the progression of atherosclerosis-the underlying cause for the vast majority of all cardiovascular (CVD)-related complications. Aging is the dominant risk factor for clinically significant atheroscleroti...

journal_title：Frontiers in genetics

authors： Head T,Daunert S,Goldschmidt-Clermont PJ

更新日期：2017-12-14 00:00:00

abstract：:Both natural and artificial selection are among the main driving forces shaping genetic variation across the genome of livestock species. Selection typically leaves signatures in the genome, which are often characterized by high genetic differentiation across breeds and/or a strong reduction in genetic diversity in re...

journal_title：Frontiers in genetics

authors： Onzima RB,Upadhyay MR,Doekes HP,Brito LF,Bosse M,Kanis E,Groenen MAM,Crooijmans RPMA

更新日期：2018-08-14 00:00:00

abstract：:Extensively raised village chickens are considered a valuable source of biodiversity, with genetic variability developed over thousands of years that ought to be characterized and utilized. Surveys that can reveal a population's genetic structure and provide an insight into its demographic history will give valuable i...

journal_title：Frontiers in genetics

authors： Khanyile KS,Dzomba EF,Muchadeyi FC

更新日期：2015-02-03 00:00:00

abstract：:The emergence of eusociality ("true sociality") in several insect lineages represents one of the most successful evolutionary adaptations in the animal kingdom in terms of species richness and global biomass. In contrast to solitary insects, eusocial insects evolved a set of unique behavioral and physiological traits ...

journal_title：Frontiers in genetics

authors： Søvik E,Bloch G,Ben-Shahar Y

更新日期：2015-05-27 00:00:00

abstract：:Telomeres are essential nucleoprotein structures at linear chromosomes that maintain genome integrity by protecting chromosome ends from being recognized and processed as damaged DNA. In addition, they limit the cell's proliferative capacity, as progressive loss of telomeric DNA during successive rounds of cell divisi...

journal_title：Frontiers in genetics

authors： Yalçin Z,Selenz C,Jacobs JJL

更新日期：2017-05-23 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：:Quantitative traits are usually controlled by numerous genomic variants with small individual effects, and variances associated with those traits are explained in a continuous manner. However, the relative contributions of genomic regions to observed genetic variations have not been well explored using sequence level ...

journal_title：Frontiers in genetics

authors： Bhuiyan MSA,Lim D,Park M,Lee S,Kim Y,Gondro C,Park B,Lee S

更新日期：2018-06-22 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：:Ethylmalonic encephalopathy (EE) is a very rare autosomal recessive metabolic disorder that primarily affects children. Less than one hundred EE patients have been diagnosed worldwide. The clinical manifestations include chronic diarrhea, petechiae, orthostatic acrocyanosis, psychomotor delay and regression, seizures,...

journal_title：Frontiers in genetics

authors： Chen X,Han L,Yao H

更新日期：2020-04-17 00:00:00

abstract：:Genomic breed composition (GBC) of an individual animal refers to the partition of its genome according to the inheritance from its ancestors or ancestral breeds. For crossbred or composite animals, knowing their GBC is useful to estimate heterosis, to characterize their actual inheritance from foundation breeds, and ...

journal_title：Frontiers in genetics

authors： Wu XL,Li Z,Wang Y,He J,Rosa GJM,Ferretti R,Genho J,Tait RG Jr,Parham J,Schultz T,Bauck S

更新日期：2020-10-30 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：: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：:Cytotoxicity assays of immortalized lymphoblastoid cell lines (LCLs) represent a promising new in vitro approach in pharmacogenomics research. However, previous studies employing LCLs in gene mapping have used simple association methods, which may not adequately capture the true differences in non-linear response prof...

journal_title：Frontiers in genetics

authors： Brown C,Havener TM,Everitt L,McLeod H,Motsinger-Reif AA

更新日期：2011-12-14 00:00:00

abstract：:Multiple osteochondromas (MO), the most common type of benign bone tumor, is an autosomal dominant skeletal disorder characterized by multiple cartilage-capped bony protuberances. In most cases, EXT1 and EXT2, which encode glycosyltransferases involved in the biosynthesis of heparan sulfate, are the genes responsible....

journal_title：Frontiers in genetics

authors： Wang Y,Zhong L,Xu Y,Ding L,Ji Y,Schutz S,Férec C,Cooper DN,Xu C,Chen JM,Luo Y

更新日期：2020-12-22 00:00:00

abstract：:Selection for improved host response to infectious disease offers a desirable alternative to chemical treatment but has proven difficult in practice, due to low heritability estimates of disease traits. Disease data from field studies is often binary, indicating whether an individual has become infected or not followi...

journal_title：Frontiers in genetics

authors： Lipschutz-Powell D,Woolliams JA,Bijma P,Pong-Wong R,Bermingham ML,Doeschl-Wilson AB

更新日期：2012-10-22 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：:Leukocyte telomere length is believed to measure cellular aging in humans, and short leukocyte telomere length is associated with increased risks of late onset diseases, including cardiovascular disease, dementia, etc. Many studies have shown that leukocyte telomere length is a heritable trait, and several candidate g...

journal_title：Frontiers in genetics

authors： Lee JH,Cheng R,Honig LS,Feitosa M,Kammerer CM,Kang MS,Schupf N,Lin SJ,Sanders JL,Bae H,Druley T,Perls T,Christensen K,Province M,Mayeux R

更新日期：2014-01-17 00:00:00

abstract：:Alzheimer's disease (AD) is a neurodegenerative and progressive disease, which often causes irreversible damages to the cerebrum. The pathogenesis of AD is far from being fully understood, while there are some popular hypotheses. So far, the diagnosis of AD relies only on clinical screening in the form of imaging tech...

journal_title：Frontiers in genetics

authors： Wang L,Liu ZP

更新日期：2019-03-12 00:00:00

abstract：:Shotgun metagenomics has greatly advanced our understanding of microbial communities over the last decade. Metagenomic analyses often include assembly and genome binning, computationally daunting tasks especially for big data from complex environments such as soil and sediments. In many studies, however, only a subset...

journal_title：Frontiers in genetics

authors： Guo J,Quensen JF,Sun Y,Wang Q,Brown CT,Cole JR,Tiedje JM

更新日期：2019-10-15 00:00:00

abstract：:Goats (Capra hircus) are an economically important livestock species providing meat and milk across the globe. They are of particular importance in tropical agri-systems contributing to sustainable agriculture, alleviation of poverty, social cohesion, and utilisation of marginal grazing. There are excellent genetic an...

journal_title：Frontiers in genetics

authors： Muriuki C,Bush SJ,Salavati M,McCulloch MEB,Lisowski ZM,Agaba M,Djikeng A,Hume DA,Clark EL

更新日期：2019-11-04 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：:In situ adaptation to climate change will be critical for the persistence of many ectotherm species due to their relative lack of dispersal capacity. Climate change is causing increases in both the mean and the variance of environmental temperature, each of which may act as agents of selection on different traits. Imp...

journal_title：Frontiers in genetics

authors： Logan ML,Cox CL

更新日期：2020-09-18 00:00:00

abstract：:This study tests in a genetically informative design whether exercise behavior causally influences subjective wellbeing (SWB) and internalizing problems (INT). If exercise causally influences SWB and INT, genetic and environmental factors influencing exercise behavior will also influence SWB and INT. Furthermore, with...

journal_title：Frontiers in genetics

authors： Bartels M,de Moor MH,van der Aa N,Boomsma DI,de Geus EJ

更新日期：2012-01-19 00:00:00