The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective.

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：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：:It is time to review all the available data and find the distinctive characteristics of actin that make it such an important cell molecule. The presented double-stranded organization of filamentous actin cannot explain the strong polymorphism of actin fibrils. In this work, we performed bioinformatics analysis of a se...

journal_title：Frontiers in genetics

authors： Glyakina AV,Galzitskaya OV

更新日期：2020-12-10 00:00:00

abstract：:Recently, a consanguineous family was identified in Israel with three children affected by Infantile Nystagmus and Foveal Hypoplasia, following an autosomal recessive mode of inheritance. A homozygous stop mutation c.1861C > T; p.Q621∗ in the aryl hydrocarbon receptor (AHR) gene (AHR; MIM 600253) was identified that c...

journal_title：Frontiers in genetics

authors： Borovok N,Weiss C,Sharkia R,Reichenstein M,Wissinger B,Azem A,Mahajnah M

更新日期：2020-09-24 00:00:00

abstract：:Emerging evidence suggests that air pollution increases the risk of cardiovascular disease (CVD) and metabolic disorders, adding to the global burden of disease attributable to lifestyle and behavioral factors. Although long interspersed nucleotide elements 1 (LINE-1) methylation has been associated with these disorde...

journal_title：Frontiers in genetics

authors： Barchitta M,Maugeri A,Quattrocchi A,Barone G,Mazzoleni P,Catalfo A,De Guidi G,Iemmolo MG,Crimi N,Agodi A

更新日期：2018-10-30 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：: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：:Improving grain yield in the staple food crop rice has been long sought goal of plant biotechnology. One of the traits with significant impact on rice breeding programs is peduncle elongation at the time of heading failing which leads to significant reduction in grain yield due to incomplete panicle exsertion. To deci...

journal_title：Frontiers in genetics

authors： Kandpal M,Vishwakarma C,Krishnan K,Chinnusamy V,Pareek A,Sharma MK,Sharma R

更新日期：2020-12-03 00:00:00

abstract：:MicroRNAs (miRNAs) are known to be important post-transcriptional regulators that are involved in the etiology of complex psychiatric traits. The present study aimed to incorporate miRNAs information into pathway analysis using a genome-wide association dataset to identify relevant biological pathways for bipolar diso...

journal_title：Frontiers in genetics

authors： Shih WL,Kao CF,Chuang LC,Kuo PH

更新日期：2012-12-18 00:00:00

abstract：:Long non-coding RNAs (lncRNAs) are transcripts which are usually more than 200 nt in length, and which do not have the protein-coding capacity. LncRNAs can be categorized based on their generation from distinct DNA elements, or derived from specific RNA processing pathways. During the past several decades, dramatic pr...

journal_title：Frontiers in genetics

authors： Li L,Zhuang Y,Zhao X,Li X

更新日期：2019-01-23 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：:The Xichuan black-bone chicken, which is a rare local chicken species in China, is an important genetic resource of black-bone chickens. Tyrosine can affect melanin production, but the molecular mechanism underlying tyrosine-induced melanin deposition in Xichuan black-bone chickens is poorly understood. Here, the blac...

journal_title：Frontiers in genetics

authors： Li D,Wang X,Fu Y,Zhang C,Cao Y,Wang J,Zhang Y,Li Y,Chen Y,Li Z,Li W,Jiang R,Sun G,Tian Y,Li G,Kang X

更新日期：2019-05-15 00:00:00

abstract：:Phthalates are esters of phthalic acid which are used in cosmetics and other daily personal care products. They are also used in polyvinyl chloride (PVC) plastics to increase durability and plasticity. Phthalates are not present in plastics by covalent bonds and thus can easily leach into the environment and enter the...

journal_title：Frontiers in genetics

authors： Dutta S,Haggerty DK,Rappolee DA,Ruden DM

更新日期：2020-05-06 00:00:00

abstract：:Sufficient genetic variation in livestock populations is necessary both for adaptation to future changes in climate and consumer demand, and for continual genetic improvement of economically important traits. Unfortunately, the current trend is for reduced genetic variation, both within and across breeds. The latter o...

journal_title：Frontiers in genetics

authors： Biscarini F,Nicolazzi EL,Stella A,Boettcher PJ,Gandini G

更新日期：2015-02-25 00:00:00

abstract：:Expanded newborn screening for inborn errors of metabolism (IEMs) by tandem mass spectrometry (MS/MS) could simultaneously analyze more than 40 metabolites and identify about 50 kinds of IEMs. Next generation sequencing (NGS) targeting hundreds of IMEs-associated genes as a follow-up test in expanded newborn screening...

journal_title：Frontiers in genetics

authors： Wang T,Ma J,Zhang Q,Gao A,Wang Q,Li H,Xiang J,Wang B

更新日期：2019-10-29 00:00:00

abstract：:Reliable phenotypes are paramount for meaningful quantification of genetic variation and for estimating individual breeding values on which genetic selection is based. In this paper, we assert that genetic improvement of host tolerance to disease, although desirable, may be first of all handicapped by the ability to o...

journal_title：Frontiers in genetics

authors： Doeschl-Wilson AB,Villanueva B,Kyriazakis I

更新日期：2012-12-14 00:00:00

abstract：:Sertoli cells are central and essential coordinators of spermatogenesis. Accumulating evidence has demonstrated that miRNAs participate in the regulation of Sertoli cell growth. However, the functions and the regulatory mechanisms of miRNAs in Sertoli cells of domestic animals remain largely unknown. Here we report th...

journal_title：Frontiers in genetics

authors： Luo H,Peng F,Weng B,Tang X,Chen Y,Yang A,Chen B,Ran M

更新日期：2020-10-29 00:00:00

abstract：:Functional annotation of the genome is important to understand the phenotypic complexity of various species. The road toward functional annotation involves several challenges ranging from experiments on individual molecules to large-scale analysis of high-throughput sequencing (HTS) data. HTS data is typically a resul...

journal_title：Frontiers in genetics

authors： Pundhir S,Poirazi P,Gorodkin J

更新日期：2015-05-19 00:00:00

abstract：:Carcass weight, meat quality and muscle components are important traits economically and they underpin most of the commercial return to goat producers. In this study, the Longissimus dorsi muscle tissues were collected from five Liaoning cashmere (LC) goats and five Ziwuling black (ZB) goats with phenotypic difference...

journal_title：Frontiers in genetics

authors： Shen J,Hao Z,Wang J,Hu J,Liu X,Li S,Ke N,Song Y,Lu Y,Hu L,Qiao L,Wu X,Luo Y

更新日期：2021-01-13 00:00:00

abstract：:Post-translational methylation of H3 lysine 36 (H3K36) is an important epigenetic marker that majorly contributes to the functionality of the chromatin. This mark is interpreted by the cell in several crucial biological processes including gene transcription and DNA methylation. The homeostasis of H3K36 methylation is...

journal_title：Frontiers in genetics

authors： Zaghi M,Broccoli V,Sessa A

更新日期：2020-01-09 00:00:00

abstract：Background:Despite recent advance in immune therapy, great heterogeneity exists in the outcomes of colorectal cancer (CRC) patients. In this study, we aimed to analyze the immune-related gene (IRG) expression profiles from three independent public databases and develop an effective signature to forecast patient's progn...

journal_title：Frontiers in genetics

authors： Dai S,Xu S,Ye Y,Ding K

更新日期：2020-12-04 00:00:00

abstract：:Long non-coding RNAs (lncRNAs) are recognized as an important class of regulatory molecules involved in a variety of biological functions. However, the regulatory mechanisms of long non-coding genes expression are still poorly understood. The characterization of the genomic features of lncRNAs is crucial to get insigh...

journal_title：Frontiers in genetics

authors： Abou Alezz M,Celli L,Belotti G,Lisa A,Bione S

更新日期：2020-05-15 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：:Adult adipose tissue-derived mesenchymal stem cells (ASCs) constitute a vital population of multipotent cells capable of differentiating into numerous end-organ phenotypes. However, scientific and translational endeavors to harness the regenerative potential of ASCs are currently limited by an incomplete understanding...

journal_title：Frontiers in genetics

authors： Pepin ME,Infante T,Benincasa G,Schiano C,Miceli M,Ceccarelli S,Megiorni F,Anastasiadou E,Della Valle G,Fatone G,Faenza M,Docimo L,Nicoletti GF,Marchese C,Wende AR,Napoli C

更新日期：2020-04-15 00:00:00

abstract：:Ubiquitination is a reversible protein modification broadly implicated in cellular functions. Signaling processes mediated by ubiquitin (ub) are crucial for the cellular response to DNA double-strand breaks (DSBs), one of the most dangerous types of DNA lesions. In particular, the DSB response critically relies on act...

journal_title：Frontiers in genetics

authors： Citterio E

更新日期：2015-09-08 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：:The direct RNA sequencing platform offered by Oxford Nanopore Technologies allows for direct measurement of RNA molecules without the need of conversion to complementary DNA, fragmentation or amplification. As such, it is virtually capable of detecting any given RNA modification present in the molecule that is being s...

journal_title：Frontiers in genetics

authors： Cozzuto L,Liu H,Pryszcz LP,Pulido TH,Delgado-Tejedor A,Ponomarenko J,Novoa EM

更新日期：2020-03-17 00:00:00

abstract：:Most cell functions are carried out by interacting factors, thus underlying the functional importance of genetic interactions between genes, termed epistasis. Epistasis could be under strong selective pressures especially in conditions where the mutation rate of one of the interacting partners notably differs from the...

journal_title：Frontiers in genetics

authors： Levin L,Blumberg A,Barshad G,Mishmar D

更新日期：2014-12-23 00:00:00

abstract：Background:Recent evidence has indicated that long non-coding RNAs (lncRNAs) can function as competing endogenous RNAs (ceRNAs) to modulate mRNAs expression by sponging microRNAs (miRNAs). However, the specific mechanism and function of lncRNA-miRNA-mRNA regulatory network in non-small cell lung cancer (NSCLC) remains ...

journal_title：Frontiers in genetics

authors： Wang M,Zheng S,Li X,Ding Y,Zhang M,Lin L,Xu H,Cheng Y,Zhang X,Xu H,Li S

更新日期：2020-09-18 00:00:00

abstract：:Glioblastoma, also called glioblastoma multiform (GBM), is the most aggressive cancer that initiates within the brain. GBM is produced in the central nervous system. Cancer cells in GBM are similar to stem cells. Several different schemes for GBM stratification exist. These schemes are based on intertumoral molecular ...

journal_title：Frontiers in genetics

authors： Zhang YH,Li Z,Zeng T,Pan X,Chen L,Liu D,Li H,Huang T,Cai YD

更新日期：2020-11-24 00:00:00