A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family.

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：: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：:One of the challenges in the analysis of large data sets, particularly in a population-based setting, is the ability to perform comparisons across projects. This has to be done in such a way that the integrity of each individual project is maintained, while ensuring that the data are comparable across projects. These ...

journal_title：Frontiers in genetics

authors： Fejes AP,Jones MJ,Kobor MS

更新日期：2014-09-18 00:00:00

abstract：:Small-Tailed Han (STH) sheep are known for their high fecundity, but the survival of lambs is compromised and influences the commercial return from farming these sheep, with this being attributed in part to starvation from insufficient milk production by the ewes. In this study, the transcriptome profiles of the mamma...

journal_title：Frontiers in genetics

authors： Wang J,Zhou H,Hickford JGH,Hao Z,Shen J,Luo Y,Hu J,Liu X,Li S

更新日期：2020-05-21 00:00:00

abstract：:Keratinocyte differentiation requires intricately coordinated spatiotemporal expression changes that specify epidermis structure and function. This article utilizes single-cell RNA-seq data from 22,338 human foreskin keratinocytes to reconstruct the transcriptional regulation of skin development and homeostasis genes,...

journal_title：Frontiers in genetics

authors： Finnegan A,Cho RJ,Luu A,Harirchian P,Lee J,Cheng JB,Song JS

更新日期：2019-09-03 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：:Molybdenum cofactor deficiency (MoCD) is an autosomal recessive disorder belonging to the large family of inborn errors in metabolism. Patients typically present with encephalopathy and seizures early after birth and develop severe neurodegeneration within the first few weeks of life. The main pathomechanism underlyin...

journal_title：Frontiers in genetics

authors： Mellis AT,Roeper J,Misko AL,Kohl J,Schwarz G

更新日期：2021-01-07 00:00:00

abstract：:Bamboo is one of the fastest-growing non-timber forest plants. Moso bamboo (Phyllostachys edulis) is the most economically valuable bamboo in Asia, especially in China. With the release of the whole-genome sequence of moso bamboo, there are increasing demands for refined annotation of bamboo genes. Recently, large amo...

journal_title：Frontiers in genetics

authors： Ma X,Zhao H,Xu W,You Q,Yan H,Gao Z,Su Z

更新日期：2018-11-27 00:00:00

abstract：:A livestock population can be characterized by different population genetic parameters, such as linkage disequilibrium and recombination rate between pairs of genetic markers. The population structure, which may be caused by family stratification, has an influence on the estimates of these parameters. An expectation m...

journal_title：Frontiers in genetics

authors： Hampel A,Teuscher F,Gomez-Raya L,Doschoris M,Wittenburg D

更新日期：2018-06-05 00:00:00

abstract：:The primary function of leaves is to provide an interface between plants and their environment for gas exchange, light exposure and thermoregulation. Leaves have, therefore a central contribution to plant fitness by allowing an efficient absorption of sunlight energy through photosynthesis to ensure an optimal growth....

journal_title：Frontiers in genetics

authors： Fritz MA,Rosa S,Sicard A

更新日期：2018-10-24 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：:The uses of breeding programs for the Pacific white shrimp [Penaeus (Litopenaeus) vannamei] based on mixed linear models with pedigreed data are described. The application of these classic breeding methods yielded continuous progress of great value to increase the profitability of the shrimp industry in several countr...

journal_title：Frontiers in genetics

authors： Castillo-Juárez H,Campos-Montes GR,Caballero-Zamora A,Montaldo HH

更新日期：2015-03-24 00:00:00

abstract：:The identification of functional modules in gene interaction networks is a key step in understanding biological processes. Network interpretation is essential for unveiling biological mechanisms, candidate biomarkers, or potential targets for drug discovery/repositioning. Plenty of biological module identification alg...

journal_title：Frontiers in genetics

authors： Nazzicari N,Vella D,Coronnello C,Di Silvestre D,Bellazzi R,Marini S

更新日期：2019-10-09 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：:Simple sequence repeats (SSRs) of short nucleotide motifs occur very frequently in the 5' untranslated coding region (5'-UTR) of genes and have been implicated in the regulation of gene expression. In this study, we identified an SSR with a variable number of CT repeats in the 5'-UTR of the Litopenaeus vannamei IRF (L...

journal_title：Frontiers in genetics

authors： Yin B,Wang H,Zhu P,Weng S,He J,Li C

更新日期：2019-12-06 00:00:00

abstract：:Periconceptional folic acid use can often prevent neural tube defects (NTDs). Variants of genes involved in folate metabolism in mothers and children have been associated with occurrence of NTDs. We identified Irish families with individuals affected by neural tube defects. In these families, we observed that neural t...

journal_title：Frontiers in genetics

authors： Fisk Green R,Byrne J,Crider KS,Gallagher M,Koontz D,Berry RJ

更新日期：2013-11-06 00:00:00

abstract：:Selective breeding programs aiming to increase the productivity and profitability of the sheep meat industry use elite, progeny tested sires. The broad genetic traits of primary interest in the progeny of these sires include skeletal muscle yield, fat content, eating quality, and reproductive efficiency. Natural mutat...

journal_title：Frontiers in genetics

authors： Tellam RL,Cockett NE,Vuocolo T,Bidwell CA

更新日期：2012-08-29 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：:In Colchester, Britain's oldest recorded town, during the Roman period there were areas which were clearly used solely as cemeteries. One of the most significant is at Butt Road, which includes a late Roman probable Christian cemetery with an associated building, apparently a church, that overlies and developed from a...

journal_title：Frontiers in genetics

authors： Voong CP,Spencer PS,Navarrete CV,Turner D,Hayrabedyan SB,Crummy P,Holloway E,Wilson MT,Smith PR,Fernández N

更新日期：2017-12-05 00:00:00

abstract：:Most proteins are regulated by posttranslational modifications and changes in these modifications contribute to evolutionary changes as well as to human diseases. Phosphorylation of serines, threonines, and tyrosines are the most common modifications identified to date in eukaryotic proteomes. While the mode of action...

journal_title：Frontiers in genetics

authors： Landry CR,Freschi L,Zarin T,Moses AM

更新日期：2014-07-23 00:00:00

abstract：:Phenome-wide association studies (PheWAS) have demonstrated utility in validating genetic associations derived from traditional genetic studies as well as identifying novel genetic associations. Here we used an electronic health record (EHR)-based PheWAS to explore pleiotropy of genetic variants in the fat mass and ob...

journal_title：Frontiers in genetics

authors： Cronin RM,Field JR,Bradford Y,Shaffer CM,Carroll RJ,Mosley JD,Bastarache L,Edwards TL,Hebbring SJ,Lin S,Hindorff LA,Crane PK,Pendergrass SA,Ritchie MD,Crawford DC,Pathak J,Bielinski SJ,Carrell DS,Crosslin DR,Ledbett

更新日期：2014-08-05 00:00:00

abstract：:Although bipolar disorder (BP) is one of the most heritable psychiatric conditions, susceptibility genes for the disorder have yet to be conclusively identified. It is likely that variants in multiple genes across multiple pathways contribute to the genotype-phenotype relationship in the affected population. Recent ev...

journal_title：Frontiers in genetics

authors： Judy JT,Zandi PP

更新日期：2013-06-11 00:00:00

abstract：:The first breeding program in the world for durum wheat was conceived in Italy in the early 1900s. Over the decades, pressure exerted by natural and artificial selection could have progressively reduced the genetic diversity of the durum wheat germplasm. In the present study, a large panel of Italian durum wheat acces...

journal_title：Frontiers in genetics

authors： Taranto F,D'Agostino N,Rodriguez M,Pavan S,Minervini AP,Pecchioni N,Papa R,De Vita P

更新日期：2020-04-21 00:00:00

abstract：:The ability to sense and respond to stressful conditions is essential to maintain organismal homeostasis. It has long been recognized that stress response factors that improve survival in changing conditions can also influence longevity. In this review, we discuss different strategies used by animals in response to de...

journal_title：Frontiers in genetics

authors： Iranon NN,Miller DL

更新日期：2012-11-27 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：:Telomeres are important for maintaining genomic stability. Telomere length has been associated with aging, disease, and mortality and is highly heritable (∼82%). In this study, we aimed to identify rare genetic variants associated with telomere length using whole-exome sequence data. We studied 1,303 participants of t...

journal_title：Frontiers in genetics

authors： van der Spek A,Warner SC,Broer L,Nelson CP,Vojinovic D,Ahmad S,Arp PP,Brouwer RWW,Denniff M,van den Hout MCGN,van Rooij JGJ,Kraaij R,van IJcken WFJ,Samani NJ,Ikram MA,Uitterlinden AG,Codd V,Amin N,van Duijn CM

更新日期：2020-04-30 00:00:00

abstract：:Livestock conservation practice is changing rapidly in light of policy developments, climate change and diversifying market demands. The last decade has seen a step change in technology and analytical approaches available to define, manage and conserve Farm Animal Genomic Resources (FAnGR). However, these rapid change...

journal_title：Frontiers in genetics

authors： Bruford MW,Ginja C,Hoffmann I,Joost S,Orozco-terWengel P,Alberto FJ,Amaral AJ,Barbato M,Biscarini F,Colli L,Costa M,Curik I,Duruz S,Ferenčaković M,Fischer D,Fitak R,Groeneveld LF,Hall SJ,Hanotte O,Hassan FU,Helsen

更新日期：2015-10-21 00:00:00

abstract：:Background: Alcohol use has been linked to a number of physical conditions, but the relationship between alcohol drinking and depression, one of the most common mental disorders that is a significant contributor to the global burden of disease, is still under debate. We aim to help fill the literature gap on the causa...

journal_title：Frontiers in genetics

authors： Zhu C,Chen Q,Si W,Li Y,Chen G,Zhao Q

更新日期：2020-10-19 00:00:00

abstract：:Motivation:Arabidopsis thaliana is a well-established model system for the analysis of the basic physiological and metabolic pathways of plants. Nevertheless, the system is not yet fully understood, although many mechanisms are described, and information for many processes exists. However, the combination and interpre...

journal_title：Frontiers in genetics

authors： Koch I,Nöthen J,Schleiff E

更新日期：2017-06-30 00:00:00

abstract：:In spite of the significant advancements in the treatment modalities, 30% of advanced stage ovarian cancer (OC) patients do not respond to the standard chemotherapeutic regimen and most of the responders finally relapse over time due to the escalation of multidrug resistance (MDR) Phenomenon. Our present study evaluat...

journal_title：Frontiers in genetics

authors： Haque A,Sait KHW,Alam Q,Alam MZ,Anfinan N,Wali AWN,Rasool M

更新日期：2020-05-26 00:00:00