abstract：:Hereditary spastic paraplegias (HSPs) is a rare heterogeneous group of neurodegenerative diseases, with upper and lower limb spasticity motor neuron disintegration leading to paraplegias. NT5C2 gene (OMIM: 600417) encode a hydrolase enzyme 5'-nucleotidase, cytosolic II play an important role in maintaining the balance...

journal_title：Frontiers in genetics

authors： Naseer MI,Abdulkareem AA,Pushparaj PN,Bibi F,Chaudhary AG

更新日期：2020-02-21 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：:The evolutionary dynamics and tissue specificity of protein-coding genes are well documented in plants. However, the evolutionary consequences of small RNAs (sRNAs) on tissue-specific functions remain poorly understood. Here, we performed integrated analysis of 195 deeply sequenced sRNA libraries of maize B73, represe...

journal_title：Frontiers in genetics

authors： Xu Y,Zhang T,Li Y,Miao Z

更新日期：2020-02-11 00:00:00

abstract：:Alport syndrome is a hereditary progressive chronic kidney disease caused by mutations in type IV collagen genes COL4A3/4/5. X-linked Alport syndrome (XLAS) is caused by mutations in the COL4A5 gene and is the most common form of Alport syndrome. A strong correlation between the type of COL4A5 mutation and the age dev...

journal_title：Frontiers in genetics

authors： Wang C,Liang S,Xing S,Xu K,Xiao H,Deng H,Wang X,Chen L,Ding J,Wang F

更新日期：2020-02-10 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：:Successful seedling establishment depends on the optimum depth of seed placement especially in drought-prone conditions, providing an opportunity to exploit subsoil water and increase winter survival in winter wheat. Coleoptile length is a key determinant for the appropriate depth at which seed can be sown. Thus, unde...

journal_title：Frontiers in genetics

authors： Sidhu JS,Singh D,Gill HS,Brar NK,Qiu Y,Halder J,Al Tameemi R,Turnipseed B,Sehgal SK

更新日期：2020-02-05 00:00:00

abstract：Background:This study aimed to investigate the genetic causes of hypohidrotic ectodermal dysplasia (HED) in two families and elucidate the molecular pathogenesis of HED in Chinese Han patients. Methods:Whole-exome sequencing (WES) was used to screen HED-related genes in two family members, followed by confirmatory San...

journal_title：Frontiers in genetics

authors： Han Y,Wang X,Zheng L,Zhu T,Li Y,Hong J,Xu C,Wang P,Gao M

更新日期：2020-02-04 00:00:00

abstract：Background/Aims:Leiomyosarcoma (LMS) is a tumor derived from malignant mesenchymal tissue associated with poor prognosis. Determining potential prognostic markers for LMS can provide clues for early diagnosis, recurrence, and treatment. Methods:RNA sequence data and clinical features of 103 LMS were obtained from the ...

journal_title：Frontiers in genetics

authors： Yang J,Li C,Zhou J,Liu X,Wang S

更新日期：2020-02-04 00:00:00

abstract：:RNase H1 is able to recognize DNA/RNA heteroduplexes and to degrade their RNA component. As a consequence, it has been implicated in different aspects of mtDNA replication such as primer formation, primer removal, and replication termination, and significant differences have been reported between control and mutant RN...

journal_title：Frontiers in genetics

authors： Reyes A,Rusecka J,Tońska K,Zeviani M

更新日期：2020-01-31 00:00:00

abstract：:Alzheimer's disease (AD) is a neurodegenerative disease that affects millions of individuals worldwide and can occur relatively early or later in life. It is well known that genetic components, such as the amyloid precursor protein gene on chromosome 21, are fundamental in early-onset AD (EOAD). To date, however, only...

journal_title：Frontiers in genetics

authors： Bajic VP,Essack M,Zivkovic L,Stewart A,Zafirovic S,Bajic VB,Gojobori T,Isenovic E,Spremo-Potparevic B

更新日期：2020-01-28 00:00:00

abstract：Background:SOX2 overlapping transcript (SOX2-OT) produces alternatively spliced long non-coding RNAs (lncRNA). Previous studies of the prognostic role of SOX2-OT expression met with conflicting results. The aim of this study was to properly consider the prognostic role of SOX2-OT expression in several cancers. In addit...

journal_title：Frontiers in genetics

authors： Li Y,Du M,Wang S,Zha J,Lei P,Wang X,Wu D,Zhang J,Chen D,Huang D,Lu J,Li H,Sun M

更新日期：2020-01-23 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：:Detection of differentially expressed genes is a common task in single-cell RNA-seq (scRNA-seq) studies. Various methods based on both bulk-cell and single-cell approaches are in current use. Due to the unique distributional characteristics of single-cell data, it is important to compare these methods with rigorous st...

journal_title：Frontiers in genetics

authors： Mou T,Deng W,Gu F,Pawitan Y,Vu TN

更新日期：2020-01-17 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：:Sorting of individual chromosomes by Flow Cytometry (flow-sorting) is an enrichment method to potentially simplify genome assembly by isolating chromosomes from the context of the genome. We have recently developed a workflow to sequence native, unamplified DNA and applied it to the smallest human chromosome, the Y ch...

journal_title：Frontiers in genetics

authors： Kuderna LFK,Solís-Moruno M,Batlle-Masó L,Julià E,Lizano E,Anglada R,Ramírez E,Bote A,Tormo M,Marquès-Bonet T,Fornas Ò,Casals F

更新日期：2020-01-09 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：: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：:Extracellular vesicles (EVs) are abundant in most biological fluids and considered promising biomarker candidates, but the development of EV biomarker assays is hindered, in part, by their requirement for prior EV purification and the lack of standardized and reproducible EV isolation methods. We now describe a far-fi...

journal_title：Frontiers in genetics

authors： Amrollahi P,Rodrigues M,Lyon CJ,Goel A,Han H,Hu TY

更新日期：2019-12-17 00:00:00

abstract：:In recent years, miRNAs have been verified to play an irreplaceable role in biological processes associated with human disease. Discovering potential disease-related miRNAs helps explain the underlying pathogenesis of the disease at the molecular level. Given the high cost and labor intensity of biological experiments...

journal_title：Frontiers in genetics

authors： Xu J,Cai L,Liao B,Zhu W,Wang P,Meng Y,Lang J,Tian G,Yang J

更新日期：2019-12-11 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：: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：:Copy number changes in protein-coding genes are detrimental if the consequent changes in protein concentrations disrupt essential cellular functions. The dosage sensitivity of transcription factor (TF) genes is particularly interesting because their products are essential in regulating the expression of genetic inform...

journal_title：Frontiers in genetics

authors： Ni Z,Zhou XY,Aslam S,Niu DK

更新日期：2019-12-04 00:00:00

abstract：:Circadian rhythms produce a biological measure of the time of day. In plants, circadian regulation forms an essential adaptation to the fluctuating environment. Most of our knowledge of the molecular aspects of circadian regulation in plants is derived from laboratory experiments that are performed under controlled co...

journal_title：Frontiers in genetics

authors： Panter PE,Muranaka T,Cuitun-Coronado D,Graham CA,Yochikawa A,Kudoh H,Dodd AN

更新日期：2019-11-29 00:00:00

abstract：:Purpose: To explore a method for the early, rapid and accurate diagnosis of Wolfram syndrome 1 (WS1) and further enrich the spectrum of WFS1 mutations in the Chinese population. Methods: We analyzed 279 patients with unexplained optic atrophy using next-generation sequencing. All patients underwent detailed clinical e...

journal_title：Frontiers in genetics

authors： Wang DD,Hu FY,Gao FJ,Zhang SH,Xu P,Tian GH,Wu JH

更新日期：2019-11-26 00:00:00

abstract：:Atherosclerosis and its comorbidities are the major contributors to the global burden of death worldwide. Lower extremities arterial disease (LEAD) is a common manifestation of atherosclerotic disease of arteries of lower extremities. MicroRNAs belong to epigenetic factors that regulate gene expression and have not ye...

journal_title：Frontiers in genetics

authors： Bogucka-Kocka A,Zalewski DP,Ruszel KP,Stępniewski A,Gałkowski D,Bogucki J,Komsta Ł,Kołodziej P,Zubilewicz T,Feldo M,Kocki J

更新日期：2019-11-22 00:00:00

abstract：:Pathway-centric approaches are widely used to interpret and contextualize -omics data. However, databases contain different representations of the same biological pathway, which may lead to different results of statistical enrichment analysis and predictive models in the context of precision medicine. We have performe...

journal_title：Frontiers in genetics

authors： Mubeen S,Hoyt CT,Gemünd A,Hofmann-Apitius M,Fröhlich H,Domingo-Fernández D

更新日期：2019-11-22 00:00:00

abstract：:Background: Genomic regions associated with divergent livestock feed efficiency have been found predominantly outside protein coding sequences. Long non-coding RNAs (lncRNA) can modulate chromatin accessibility, gene expression and act as important metabolic regulators in mammals. By integrating phenotypic, transcript...

journal_title：Frontiers in genetics

authors： Nolte W,Weikard R,Brunner RM,Albrecht E,Hammon HM,Reverter A,Kühn C

更新日期：2019-11-22 00:00:00

abstract：:Autoimmune encephalitis (AE) is a severe neurological disease. The brain of the AE patient is attacked by a dysregulated immune system, which is caused by the excessive production of autoantibodies against neuronal receptors and synaptic proteins. AE is also characterized by the uncontrolled B lymphocyte infiltration ...

journal_title：Frontiers in genetics

authors： Tsai MH,Lin CH,Tsai KW,Lin MH,Ho CJ,Lu YT,Weng KP,Lin Y,Lin PH,Li SC

更新日期：2019-11-22 00:00:00

abstract：:The sustainable development of aquaculture has been impeded by infectious diseases worldwide. However, the genomic architecture and the genetic basis underlying the disease resistance remain poorly understood, which severely hampers both the understanding of the evolution of fish disease resistance traits and the prev...

journal_title：Frontiers in genetics

authors： Zhou Q,Su Z,Li Y,Liu Y,Wang L,Lu S,Wang S,Gan T,Liu F,Zhou X,Wei M,Liu G,Chen S

更新日期：2019-11-20 00:00:00

abstract：:It is broadly expected that next generation sequencing will ultimately generate a complete genome as is the latest goat reference genome (ARS1), which is considered to be one of the most continuous assemblies in livestock. However, the rich diversity of worldwide goat breeds indicates that a genome from one individual...

journal_title：Frontiers in genetics

authors： Li R,Fu W,Su R,Tian X,Du D,Zhao Y,Zheng Z,Chen Q,Gao S,Cai Y,Wang X,Li J,Jiang Y

更新日期：2019-11-15 00:00:00

abstract：:Resistant Starch (RS), plays a crucial role in human health and nutrition by controlling glucose metabolism. RS or dietary fibre content in rice is low because it goes through a variety of process before it is ready for cooking and consumption. Hence, this study was carried out to develop a rice mutant with increased ...

journal_title：Frontiers in genetics

authors： Gurunathan S,Ramadoss BR,Mudili V,Siddaiah C,Kalagatur NK,Bapu JRK,Mohan CD,Alqarawi AA,Hashem A,Abd Allah EF

更新日期：2019-11-15 00:00:00

abstract：:A case-control study was used to explore the association between the methylation status in the promoter regions of the cGAS, MAVS, and TRAF3 genes and the diseases of cervical precancerous lesions (CPL) and cervical cancer (CC) in a Southern Chinese population, and to further explore their interaction effects with hig...

journal_title：Frontiers in genetics

authors： Huang S,Li R,Huang X,Zheng S,Wang L,Wen Z,Zou X,Wu J,Liu Y,Liu D,Wang Y,Dong S,Chen X,Zhu K,Du X,Zhou Z,Han Y,Ye X,Zeng C,Zhang B,Yang G,Jing C

更新日期：2019-11-14 00:00:00

abstract：:A balanced pericentric inversion is normally without any clinical consequences for its carrier. However, there is a well-known risk of such inversions to lead to unbalanced offspring. Inversion-loop formation is the mechanism which may lead to duplication or deletion of the entire or parts of the inverted segment in t...

journal_title：Frontiers in genetics

authors： Liehr T,Weise A,Mrasek K,Ziegler M,Padutsch N,Wilhelm K,Al-Rikabi A

更新日期：2019-11-14 00:00:00

abstract：:A rapidly increasing number of reports on dysregulated long intergenic non-coding RNA (lincRNA) expression across numerous types of cancers indicates that aberrant lincRNA expression may be a major contributor to tumorigenesis. Marek's disease (MD) is a T cell lymphoma of chickens induced by Marek's disease virus (MDV...

journal_title：Frontiers in genetics

authors： He Y,Han B,Ding Y,Zhang H,Chang S,Zhang L,Zhao C,Yang N,Song J

更新日期：2019-11-14 00:00:00

abstract：:Gene expression profiling has been widely used to characterize cell status to reflect the health of the body, to diagnose genetic diseases, etc. In recent years, although the cost of genome-wide expression profiling is gradually decreasing, the cost of collecting expression profiles for thousands of genes is still ver...

journal_title：Frontiers in genetics

authors： Li W,Yin Y,Quan X,Zhang H

更新日期：2019-11-12 00:00:00

abstract：:Our understanding of the biological role of N6-methyladenosine (m6A), a ubiquitous non-editing RNA modification, has increased greatly since 2011. More recently, work from several labs revealed that m6A methylation regulates several aspects of mRNA metabolism. The "writer" protein METTL3, known as MT-A70 in humans, Dm...

journal_title：Frontiers in genetics

authors： Rockwell AL,Hongay CF

更新日期：2019-11-12 00:00:00

abstract：:Trauma is a leading cause of morbidity and mortality. It is unclear why some trauma victims follow a complicated clinical course and die, while others, with apparently similar injury characteristics, do not. Interpatient genomic differences, in the form of single nucleotide polymorphisms (SNPs), have been associated p...

journal_title：Frontiers in genetics

authors： Schimunek L,Namas RA,Yin J,Barclay D,Liu D,El-Dehaibi F,Abboud A,Cohen M,Zamora R,Billiar TR,Vodovotz Y

更新日期：2019-11-08 00:00:00

abstract：:Habitat loss and the illegal exploitation of natural resources are among the main drivers of species extinction around the world. These disturbances act at different scales, once changes in the landscape composition and configuration operate at large scales and exploitation of natural resources at local scales. Eviden...

journal_title：Frontiers in genetics

authors： Soares LASS,Cazetta E,Santos LR,França DS,Gaiotto FA

更新日期：2019-11-07 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：: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