Genetic and Clinical Analyses of 13 Chinese Families With Cystine Urolithiasis and Identification of 15 Novel Pathogenic Variants in SLC3A1 and SLC7A9.

abstract：:Leaf rust, caused by Puccinia triticina (Pt), is one of the most devastating diseases of wheat, affecting production in nearly all wheat-growing regions worldwide. Despite its economic importance, genomic resources for Pt are very limited. In the present study, we have used long-read sequencing (LRS) and the pipeline ...

journal_title：Frontiers in genetics

authors： Wu JQ,Dong C,Song L,Park RF

更新日期：2020-06-04 00:00:00

abstract：:In this article, we make a theoretical and in silico study for uncovering and evaluating biomarkers in colon and rectal cancer (CRC) by the dynamic network biomarker (DNB) theory. We propose a strategy to employ the theoretical concept of UICC TNM classification in CRC. To reveal the critical transition of CRC, the DN...

journal_title：Frontiers in genetics

authors： Tong Y,Song Y,Xia C,Deng S

更新日期：2020-10-20 00:00:00

abstract：:To gain a detailed understanding of how plant microbes evolve and adapt to hosts, pesticides, and other factors, knowledge of the population dynamics and evolutionary history of populations is crucial. Plant pathogen populations are often clonal or partially clonal which requires different analytical tools. With the a...

journal_title：Frontiers in genetics

authors： Kamvar ZN,Brooks JC,Grünwald NJ

更新日期：2015-06-10 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：:Genetic polymorphisms in β1-, β2- and β3-adrenergic receptors (β-ARs) have been associated with chronic non-communicable disorders, such as cardiovascular diseases, asthma, chronic obstructive pulmonary disease (COPD) and obesity, as well as β-agonists and antagonists response and toxicity. The purpose of this study w...

journal_title：Frontiers in genetics

authors： Katsarou MS,Karathanasopoulou A,Andrianopoulou A,Desiniotis V,Tzinis E,Dimitrakis E,Lagiou M,Charmandari E,Aschner M,Tsatsakis AM,Chrousos GP,Drakoulis N

更新日期：2018-11-28 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：:p73 transcription factor belongs to one of the most important gene families in vertebrate biology, the p53-family. Trp73 gene, like the other family members, generates multiple isoforms named TA and DNp73, with different and, sometimes, antagonist functions. Although p73 shares many biological functions with p53, it a...

journal_title：Frontiers in genetics

authors： Marques MM,Villoch-Fernandez J,Maeso-Alonso L,Fuertes-Alvarez S,Marin MC

更新日期：2019-03-15 00:00:00

abstract：:In animals, interactions among gene products of mitochondrial and nuclear genomes (mitonuclear interactions) are of profound fitness, evolutionary, and ecological significance. Most fundamentally, the oxidative phosphorylation (OXPHOS) complexes responsible for cellular bioenergetics are formed by the direct interacti...

journal_title：Frontiers in genetics

authors： Sunnucks P,Morales HE,Lamb AM,Pavlova A,Greening C

更新日期：2017-03-03 00:00:00

abstract：:At the end of introns, the polypyrimidine tract (Py) is often close to the 3' AG in a consensus (Y)20NCAGgt in humans. Interestingly, we have found that they could also be separated by purine-rich elements including G tracts in thousands of human genes. These regulatory elements between the Py and 3' AG (REPA) mainly ...

journal_title：Frontiers in genetics

authors： Nguyen H,Xie J

更新日期：2019-01-14 00:00:00

abstract：:Long noncoding RNAs (lncRNAs) are a novel class of RNA molecules defined as transcripts longer than 200 nucleotides that lack protein coding potential. They constitute a major, but still poorly characterized part of human transcriptome, however, evidence is growing that they are important regulatory molecules involved...

journal_title：Frontiers in genetics

authors： Yarmishyn AA,Kurochkin IV

更新日期：2015-04-23 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：:Fast growth is one of the most desired traits for all food animals, which affects the profitability of animal production. The Pacific oyster, Crassostrea gigas, is an important aquaculture shellfish around the world with the largest annual production. Growth of the Pacific oyster has been greatly improved by artificia...

journal_title：Frontiers in genetics

authors： Zhang F,Hu B,Fu H,Jiao Z,Li Q,Liu S

更新日期：2019-06-28 00:00:00

abstract：:The aging brain undergoes a range of changes varying from subtle structural and physiological changes causing only minor functional decline under healthy normal aging conditions, to severe cognitive or neurological impairment associated with extensive loss of neurons and circuits due to age-associated neurodegenerativ...

journal_title：Frontiers in genetics

authors： Hermann PM,Watson SN,Wildering WC

更新日期：2014-12-04 00:00:00

abstract：:Cyprinids are the most important group of farmed fish globally in terms of production volume, with common carp (Cyprinus carpio) being one of the most valuable species of the group. The use of modern selective breeding methods in carp is at a formative stage, implying a large scope for genetic improvement of key produ...

journal_title：Frontiers in genetics

authors： Palaiokostas C,Kocour M,Prchal M,Houston RD

更新日期：2018-03-13 00:00:00

abstract：:The plasma levels of high-density lipoprotein cholesterol (HDL) have an inverse relationship to the risks of atherosclerosis and cardiovascular disease (CVD), and have also been associated with longevity. We sought to identify novel loci for HDL that could potentially provide new insights into biological regulation of...

journal_title：Frontiers in genetics

authors： Feitosa MF,Wojczynski MK,Straka R,Kammerer CM,Lee JH,Kraja AT,Christensen K,Newman AB,Province MA,Borecki IB

更新日期：2014-06-03 00:00:00

abstract：:Bovine leukemia virus (BLV) affects cattle health and productivity worldwide, causing abnormal immune function and immunosuppression. Transfer RNA fragments (tRFs) are known to be involved in inhibition of gene expression and have been associated with stress and immune response, tumor growth, and viral infection. The ...

journal_title：Frontiers in genetics

authors： Taxis TM,Kehrli ME Jr,D'Orey-Branco R,Casas E

更新日期：2018-07-04 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：:Cellular commitment and differentiation involve highly coordinated mechanisms by which tissue-specific genes are activated while others are repressed. These mechanisms rely on the activity of specific transcription factors, chromatin remodeling enzymes, and higher-order chromatin organization in order to modulate tran...

journal_title：Frontiers in genetics

authors： Hernández-Hernández O,Ávila-Avilés RD,Hernández-Hernández JM

更新日期：2020-09-18 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：:Background: Milroy disease (MD) is rare and autosomal dominant resulting from mutations of the vascular endothelial growth factor receptor-3 (VEGFR-3 or FLT4), which leads to dysgenesis of the lymphatic system. Methods: Here we report a Chinese MD family with 2 affected members of two generations. We identified the mu...

journal_title：Frontiers in genetics

authors： Zhang S,Chen X,Yuan L,Wang S,Moli D,Liu S,Wu Y

更新日期：2019-03-19 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：Background:Tumor stem cells play important roles in the survival, proliferation, metastasis and recurrence of tumors. We aimed to identify new prognostic biomarkers for lung squamous cell carcinoma (LUSC) based on the cancer stem cell theory. Methods:RNA-seq data and relevant clinical information were downloaded from ...

journal_title：Frontiers in genetics

authors： Liao Y,Xiao H,Cheng M,Fan X

更新日期：2020-05-13 00:00:00

abstract：:MicroRNAs (miRNAs) crucial roles in translation repression and post-transcriptional adjustments contribute to regulate intestinal lipid metabolism. Even though their actions in different metabolic tissues have been elucidated, their intestinal activity is yet unclear. We aimed to investigate intestinal miRNA-regulated...

journal_title：Frontiers in genetics

authors： Ruiz-Roso MB,Gil-Zamorano J,López de Las Hazas MC,Tomé-Carneiro J,Crespo MC,Latasa MJ,Briand O,Sánchez-López D,Ortiz AI,Visioli F,Martínez JA,Dávalos A

更新日期：2020-07-10 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：:Autosomal recessive non-syndromic hearing loss (ARNSHL) is a highly heterogeneous disease involving more than 70 pathogenic genes. However, most ARNSHL families have small-sized pedigrees with limited genetic information, rendering challenges for the molecular diagnosis of these patients. Therefore, we attempted to es...

journal_title：Frontiers in genetics

authors： Sang S,Ling J,Liu X,Mei L,Cai X,Li T,Li W,Li M,Wen J,Liu X,Liu J,Liu Y,Chen H,He C,Feng Y

更新日期：2019-07-17 00:00:00

abstract：:Identifying driver genes that contribute to cancer progression from numerous passenger genes, although a central goal, is a major challenge. The protein-protein interaction network provides convenient and reasonable assistance for driver gene discovery. Random walk-based methods have been widely used to prioritize nod...

journal_title：Frontiers in genetics

authors： Wei PJ,Wu FX,Xia J,Su Y,Wang J,Zheng CH

更新日期：2020-04-28 00:00:00

abstract：:Background: During the last decades a number of genome-wide association studies (GWASs) has identified numerous single nucleotide polymorphisms (SNPs) associated with different complex diseases. However, associations reported in one population are often conflicting and did not replicate when studied in other populatio...

journal_title：Frontiers in genetics

authors： Nikoghosyan M,Hakobyan S,Hovhannisyan A,Loeffler-Wirth H,Binder H,Arakelyan A

更新日期：2019-04-26 00:00:00

abstract：:Objective: Adrenocortical carcinoma (ACC) is a rare but aggressive malignant cancer that has been attracting growing attention over recent decades. This study aims to integrate protein interaction networks with gene expression profiles to identify potential biomarkers with prognostic value in silico. Methods: Three mi...

journal_title：Frontiers in genetics

authors： Xu WH,Wu J,Wang J,Wan FN,Wang HK,Cao DL,Qu YY,Zhang HL,Ye DW

更新日期：2019-09-11 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：:Aptamers are single-stranded nucleic acids that specifically recognize and bind tightly to their cognate targets due to their stable three-dimensional structure. Nucleic acid aptamers have been developed for various applications, including diagnostics, molecular imaging, biomarker discovery, target validation, therape...

journal_title：Frontiers in genetics

authors： Zhou J,Bobbin ML,Burnett JC,Rossi JJ

更新日期：2012-11-02 00:00:00