Novel Compound Heterozygous Variants of ETHE1 Causing Ethylmalonic Encephalopathy in a Chinese Patient: A Case Report.

abstract：:ZNF143, a human homolog of the transcriptional activator Staf, is a C2H2-type protein consisting of seven zinc finger domains. As a transcription factor (TF), ZNF143 is sequence specifically binding to chromatin and activates the expression of protein-coding and non-coding genes on a genome scale. Although it is ubiqu...

journal_title：Frontiers in genetics

authors： Ye B,Yang G,Li Y,Zhang C,Wang Q,Yu G

更新日期：2020-04-07 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：:Objective: Schizophrenia is thought to be a neurodevelopmental disorder. As a key regulator in the development of the central nervous system, transcription factor 4 (TCF4) has been shown to be involved in the pathogenesis of schizophrenia. The aim of our study was to assay the association of TCF4 single nucleotide pol...

journal_title：Frontiers in genetics

authors： Yin J,Zhu D,Li Y,Lv D,Yu H,Liang C,Luo X,Xu X,Fu J,Yan H,Dai Z,Zhou X,Wen X,Xiong S,Lin Z,Lin J,Zhao B,Wang Y,Li K,Ma G

更新日期：2019-05-28 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：:In the last 40 years, the Asian tiger mosquito Aedes albopictus, indigenous to East Asia, has colonized every continent except Antarctica. Its spread is a major public health concern, given that this species is a competent vector for numerous arboviruses, including those causing dengue, chikungunya, West Nile, and the...

journal_title：Frontiers in genetics

authors： Battaglia V,Gabrieli P,Brandini S,Capodiferro MR,Javier PA,Chen XG,Achilli A,Semino O,Gomulski LM,Malacrida AR,Gasperi G,Torroni A,Olivieri A

更新日期：2016-11-23 00:00:00

abstract：:Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by a CGG-repeat expansion in the 5' UTR of the FMR1 gene on the X-chromosome. Both elevated levels of the expanded FMR1 mRNA and aberrant expression of a polyglycine protein (FMRpolyG) from the CGG-repeat region are hypothesized...

journal_title：Frontiers in genetics

authors： Hoem G,Bowitz Larsen K,Øvervatn A,Brech A,Lamark T,Sjøttem E,Johansen T

更新日期：2019-03-28 00:00:00

abstract：:Cotton (Gossypium spp.) is the most important natural fiber crop in the world. The R2R3-MYB gene family is a large gene family involved in many plant functions including cotton fiber development. Although previous studies have reported its phylogenetic relationships, gene structures, and expression patterns in tetrapl...

journal_title：Frontiers in genetics

authors： Wang N,Ma Q,Ma J,Pei W,Liu G,Cui Y,Wu M,Zang X,Zhang J,Yu S,Ma L,Yu J

更新日期：2019-08-15 00:00:00

abstract：:Glioblastoma (GBM) is characterized by rapid and lethal infiltration of brain tissue, which is the primary cause of treatment failure and deaths for GBM. Therefore, understanding the molecular mechanisms of tumor cell invasion is crucial for the treatment of GBM. In this study, we dissected the single-cell RNA-seq dat...

journal_title：Frontiers in genetics

authors： Pang B,Quan F,Ping Y,Hu J,Lan Y,Pang L

更新日期：2021-01-11 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：: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：:Human CYP3A enzymes (including CYP3A4 and CYP4A5) metabolize about 40% of all drugs and numerous other environmental and endogenous substances. CYP3A activity is highly variable within and between humans. As a consequence, therapy with standard doses often results in too low or too high blood and tissue concentrations...

journal_title：Frontiers in genetics

authors： Matthaei J,Bonat WH,Kerb R,Tzvetkov MV,Strube J,Brunke S,Sachse-Seeboth C,Sehrt D,Hofmann U,von Bornemann Hjelmborg J,Schwab M,Brockmöller J

更新日期：2020-08-21 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

abstract：:Chemicals, toxicants, and environmental stressors mediate their biologic effect through specific modes of action (MOAs). These encompass key molecular events that lead to changes in the expression of genes within regulatory pathways. Elucidating shared biologic processes and overlapping gene networks will help to bett...

journal_title：Frontiers in genetics

authors： Funderburk KM,Auerbach SS,Bushel PR

更新日期：2017-10-24 00:00:00

abstract：:Cardiovascular diseases such as atherosclerosis are one of the leading causes of morbidity and mortality worldwide. The clinical manifestations of atherosclerosis, which include heart attack and stroke, occur several decades after initiation of the disease and become more severe with age. Inflammation of blood vessels...

journal_title：Frontiers in genetics

authors： Cheng HS,Njock MS,Khyzha N,Dang LT,Fish JE

更新日期：2014-12-10 00:00:00

abstract：:Olfactory receptors (ORs) are a type of GTP-binding protein-coupled receptor (GPCR). These receptors are responsible for mediating the sense of smell through their interaction with odor ligands. OR-odorant interactions marks the first step in the process that leads to olfaction. Computational studies on model OR struc...

journal_title：Frontiers in genetics

authors： Lai PC,Crasto CJ

更新日期：2012-05-03 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：Objective:Extensive literature put forward the link between sleep and type 2 diabetes mellitus (T2DM), however, little is known about the underlying causality of the associations. Here we aim to assess the causal relationships between five major sleep-related traits and T2DM. Design Setting and Participants:Two-sample...

journal_title：Frontiers in genetics

authors： Gao X,Sun H,Zhang Y,Liu L,Wang J,Wang T

更新日期：2020-12-15 00:00:00

abstract：:Introduction: Human satellite DNA is organized in long arrays in peri/centromeric heterochromatin. There is little information about satellite copy number variants (CNVs) in aging and replicative cell senescence (RS). Materials and Methods: Biotinylated pUC1.77 probe was used for the satellite III (f-SatIII) quantitat...

journal_title：Frontiers in genetics

authors： Ershova ES,Malinovskaya EM,Konkova MS,Veiko RV,Umriukhin PE,Martynov AV,Kutsev SI,Veiko NN,Kostyuk SV

更新日期：2019-08-07 00:00:00

abstract：:Apomixis, an asexual mode of reproduction through seeds, has immense scope for crop improvement due to its ability to fix hybrid vigor. In C. ciliaris, a predominantly apomictically reproducing range grass, apomixis is genetically controlled by an apospory-specific-genomic-region (ASGR) which is enriched with retrotra...

journal_title：Frontiers in genetics

authors： Rathore P,Raina SN,Kumar S,Bhat V

更新日期：2020-07-22 00:00:00

abstract：:The phenotype of carcass traits in beef cattle are affected by random genetic and non-genetic effects, which both can be modulated by an environmental variable such as Temperature-Humidity Index (THI), a key environmental factor in cattle production. In this study, a multivariate reaction norm model (MRNM) was used to...

journal_title：Frontiers in genetics

authors： Chung Y,Lee SH,Lee HK,Lim D,van der Werf J,Lee SH

更新日期：2020-12-23 00:00:00

abstract：:Technological developments and intense research over the last years have led to a better understanding of the 3D structure of the genome and its influence on genome function inside the cell nucleus. We will summarize topological studies performed on four model gene loci: the α- and β-globin gene loci, the antigen rece...

journal_title：Frontiers in genetics

authors： Holwerda S,de Laat W

更新日期：2012-10-17 00:00:00

abstract：:We report on three new patients with spondyloocular syndrome (SOS) in a consanguineous Pakistani family. All three patients present progressive generalized osteoporosis, short stature, recurrent fractures, hearing loss and visual impairments. WES revealed a novel homozygous frameshift variant in exon 11 of XYLT2 (NG 0...

journal_title：Frontiers in genetics

authors： Kausar M,Chew EGY,Ullah H,Anees M,Khor CC,Foo JN,Makitie O,Siddiqi S

更新日期：2019-03-05 00:00:00

abstract：:Watson for Oncology (WFO) is a artificial intelligence clinical decision-support system with evidence-based treatment options for oncologists. WFO has been gradually used in China, but limited reports on whether WFO is suitable for Chinese patients. This study aims to investigate the concordance of treatment options b...

journal_title：Frontiers in genetics

authors： Zou FW,Tang YF,Liu CY,Ma JA,Hu CH

更新日期：2020-03-24 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：:Multidrug resistant bacteria are a serious worldwide problem, especially carbapenem-resistant Enterobacteriaceae (such as Klebsiella pneumoniae and Escherichia coli), Acinetobacter baumannii and Pseudomonas aeruginosa. Since the emergence of extensive and pan-drug resistant bacteria there are few antibiotics left to t...

journal_title：Frontiers in genetics

authors： Parmeciano Di Noto G,Molina MC,Quiroga C

更新日期：2019-02-22 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：:The termites evolved eusociality and complex societies before the ants, but have been studied much less. The recent publication of the first two termite genomes provides a unique comparative opportunity, particularly because the sequenced termites represent opposite ends of the social complexity spectrum. Zootermopsis...

journal_title：Frontiers in genetics

authors： Korb J,Poulsen M,Hu H,Li C,Boomsma JJ,Zhang G,Liebig J

更新日期：2015-03-04 00:00:00

abstract：:Malaria remains a major healthcare risk to growing economies like India, and a chromosome-level reference genome of Anopheles stephensi is critical for successful vector management and understanding of vector evolution using comparative genomics. We report chromosome-level assemblies of an Indian strain, STE2, and a P...

journal_title：Frontiers in genetics

authors： Chida AR,Ravi S,Jayaprasad S,Paul K,Saha J,Suresh C,Whadgar S,Kumar N,Rao K R,Ghosh C,Choudhary B,Subramani S,Srinivasan S

更新日期：2020-11-16 00:00:00

abstract：:Clear cell renal cell carcinoma (ccRCC) is one of the most common histological subtypes of renal cancer, with a poor prognosis. Our study aimed to identify a biomarker that is significantly associated with ccRCC prognosis and novel immunotherapeutic targets, as well as some novel molecular drugs for ccRCC. Based on th...

journal_title：Frontiers in genetics

authors： Xiao GF,Yan X,Chen Z,Zhang RJ,Liu TZ,Hu WL

更新日期：2020-08-18 00:00:00

abstract：:Long intergenic non-coding RNAs (lincRNAs) are an abundant and functionally diverse class of eukaryotic transcripts. Reported lincRNA repertoires in mammals vary, but are commonly in the thousands to tens of thousands of transcripts, covering ~90% of the genome. In addition to elucidating function, there is particular...

journal_title：Frontiers in genetics

authors： Nelson ADL,Devisetty UK,Palos K,Haug-Baltzell AK,Lyons E,Beilstein MA

更新日期：2017-05-09 00:00:00