FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene.

abstract：:In this study, we used pan RNA-seq analysis to reveal the ubiquitous existence of both 5' and 3' end small RNAs (5' and 3' sRNAs). 5' and 3' sRNAs alone can be used to annotate nuclear non-coding and mitochondrial genes at 1-bp resolution and identify new steady RNAs, which are usually transcribed from functional gene...

journal_title：Frontiers in genetics

authors： Xu X,Ji H,Jin X,Cheng Z,Yao X,Liu Y,Zhao Q,Zhang T,Ruan J,Bu W,Chen Z,Gao S

更新日期：2019-02-14 00:00:00

abstract：:Recent advances in genomics and proteomics generated a large amount of trans regulatory data such as those mediated by RNA binding proteins (RBPs) and microRNAs. Since many trans regulators target 3' UTR of mRNA transcripts, it is likely that there would be interactions, i.e., competitive or cooperative effect, among ...

journal_title：Frontiers in genetics

authors： Liu Y,Pan C,Kong D,Luo J,Zhang Z

更新日期：2020-09-08 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：: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：: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：:Genome-wide Association Studies (GWAS) result in millions of summary statistics ("z-scores") for single nucleotide polymorphism (SNP) associations with phenotypes. These rich datasets afford deep insights into the nature and extent of genetic contributions to complex phenotypes such as psychiatric disorders, which are...

journal_title：Frontiers in genetics

authors： Holland D,Wang Y,Thompson WK,Schork A,Chen CH,Lo MT,Witoelar A,Schizophrenia Working Group of the Psychiatric Genomics Consortium.,Enhancing Neuro Imaging Genetics through Meta Analysis Consortium.,Werge T,O'Donovan M,Andreassen OA

更新日期：2016-02-16 00:00:00

abstract：:Determining the target genes that interact with drugs-drug-target interactions-plays an important role in drug discovery. Identification of drug-target interactions through biological experiments is time consuming, laborious, and costly. Therefore, using computational approaches to predict candidate targets is a good ...

journal_title：Frontiers in genetics

authors： Xuan P,Sun C,Zhang T,Ye Y,Shen T,Dong Y

更新日期：2019-05-31 00:00:00

abstract：:The TP53 gene is the most commonly mutated gene in human cancers and mutations in TP53 have been shown to have either gain-of-function or loss-of-function effects. Using the data generated by The Cancer Genome Atlas, we sought to define the spectrum of TP53 mutations in hepatocellular carcinomas (HCCs) and their assoc...

journal_title：Frontiers in genetics

authors： Kancherla V,Abdullazade S,Matter MS,Lanzafame M,Quagliata L,Roma G,Hoshida Y,Terracciano LM,Ng CKY,Piscuoglio S

更新日期：2018-02-02 00:00:00

abstract：:There are associations between DNA methylation and the expression of long non-coding RNA (lncRNA), also known as lncRNA expression quantitative trait methylations (lnc-eQTMs). Lnc-eQTMs may induce a wide range of carcinogenesis pathways. However, lnc-eQTMs have not been globally identified and studied, and their roles...

journal_title：Frontiers in genetics

authors： Wu X,Gao Y,Bu J,Deng L,Zhang P,Chi M,Jiang L,Shi X,Ning S,Wang G

更新日期：2020-12-09 00:00:00

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：:In recent years, there has been an explosive increase in the amount of bioinformatics data produced, but data are not information. The purpose of bioinformatics research is to obtain information with biological significance from large amounts of data. Multiple sequence alignment is widely used in sequence homology det...

journal_title：Frontiers in genetics

authors： Shi H,Zhang X

更新日期：2020-02-27 00:00:00

abstract：Background:Genetic association studies have identified single nucleotide polymorphisms (SNPs) related to chronic obstructive pulmonary disease (COPD) susceptibility. The aim of this study was to identify HHIP genetic variants associated with COPD, pulmonary function, and serum and sputum HHIP protein levels in Mexican ...

journal_title：Frontiers in genetics

authors： Ortega-Martínez A,Pérez-Rubio G,Ambrocio-Ortiz E,Nava-Quiroz KJ,Hernández-Zenteno RJ,Abarca-Rojano E,Rodríguez-Llamazares S,Hernández-Pérez A,García-Gómez L,Ramírez-Venegas A,Falfán-Valencia R

更新日期：2020-09-24 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：: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：:Communication disorders have complex genetic origins, with constellations of relevant gene markers that vary across individuals. Some genetic variants are present in healthy individuals as well as those affected by developmental disorders. Growing evidence suggests that some variants may increase susceptibility to the...

journal_title：Frontiers in genetics

authors： Centanni TM,Green JR,Iuzzini-Seigel J,Bartlett CW,Hogan TP

更新日期：2015-08-24 00:00:00

abstract：:The Jats represent a large ethnic community that has inhabited the northwest region of India and Pakistan for several thousand years. It is estimated the community has a population of over 123 million people. Many historians and academics have asserted that the Jats are descendants of Aryans, Scythians, or other ancie...

journal_title：Frontiers in genetics

authors： Mahal DG,Matsoukas IG

更新日期：2017-09-20 00:00:00

abstract：:The interesting history of Southern Africa has put the region in the spotlight for population medical genetics. Major events including the Bantu expansion and European colonialism have imprinted unique genetic signatures within autochthonous populations of Southern Africa, this resulting in differential allele frequen...

journal_title：Frontiers in genetics

authors： Thami PK,Chimusa ER

更新日期：2019-09-27 00:00:00

abstract：:This study assessed the accuracy and bias of genomic prediction (GP) in purebred Holstein (H) and Jersey (J) as well as crossbred (H and J) validation cows using different reference sets and prediction strategies. The reference sets were made up of different combinations of 36,695 H and J purebreds and crossbreds. Add...

journal_title：Frontiers in genetics

authors： Khansefid M,Goddard ME,Haile-Mariam M,Konstantinov KV,Schrooten C,de Jong G,Jewell EG,O'Connor E,Pryce JE,Daetwyler HD,MacLeod IM

更新日期：2020-12-14 00:00:00

abstract：:Ethylmalonic encephalopathy (EE) is a very rare autosomal recessive metabolic disorder that primarily affects children. Less than one hundred EE patients have been diagnosed worldwide. The clinical manifestations include chronic diarrhea, petechiae, orthostatic acrocyanosis, psychomotor delay and regression, seizures,...

journal_title：Frontiers in genetics

authors： Chen X,Han L,Yao H

更新日期：2020-04-17 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：:Rheumatoid arthritis (RA) is a systemic autoimmune disease that affects about 1% of the world's population. The etiology of RA remains unknown. It is considered to occur in the presence of genetic and environmental factors. An increasing body of evidence pinpoints that epigenetic modifications play an important role i...

journal_title：Frontiers in genetics

authors： Nemtsova MV,Zaletaev DV,Bure IV,Mikhaylenko DS,Kuznetsova EB,Alekseeva EA,Beloukhova MI,Deviatkin AA,Lukashev AN,Zamyatnin AA Jr

更新日期：2019-06-14 00:00:00

abstract：:An increasing number of studies have shown that long intergenic non-coding RNAs (lincRNAs) are a very important class of non-coding RNAs that plays a vital role in many biological processes. Adipose tissue is an important place for storing energy, but few studies on lincRNAs were related to pig subcutaneous fat develo...

journal_title：Frontiers in genetics

authors： Shi G,Chen L,Chen G,Zou C,Li J,Li M,Fang C,Li C

更新日期：2019-03-04 00:00:00

abstract：:Previous efforts to characterize conservation between the human and mouse genomes focused largely on sequence comparisons. These studies are inherently limited because they don't account for gene structure differences, which may exist despite genomic sequence conservation. Recent high-throughput transcriptome studies ...

journal_title：Frontiers in genetics

authors： Wood EJ,Chin-Inmanu K,Jia H,Lipovich L

更新日期：2013-09-26 00:00:00

abstract：:The prevalence of obesity continues to increase particularly in developed countries. To establish the primary mechanisms involved, relevant animal models which track the developmental pathway to obesity are required. This need is emphasized by the substantial rise in the number of overweight and obese children, of whi...

journal_title：Frontiers in genetics

authors： Symonds ME,Sebert S,Budge H

更新日期：2011-05-31 00:00:00

abstract：:Amphibians are important vertebrates in toxicology often representing both aquatic and terrestrial forms within the life history of the same species. Of the thousands of species, only two have substantial genomics resources: the recently published genome of the Pipid, Xenopus (Silurana) tropicalis, and transcript info...

journal_title：Frontiers in genetics

authors： Helbing CC

更新日期：2012-03-14 00:00:00

abstract：:Melanoma is the deadliest skin cancer and is a major public health concern with a growing incidence worldwide. As for other complex diseases, animal models are needed in order to better understand the mechanisms leading to pathology, identify potential biomarkers to be used in the clinics, and eventually molecular tar...

journal_title：Frontiers in genetics

authors： Bourneuf E

更新日期：2017-10-13 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：: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：:Oxidative stress is one of the crucial mediators of varicocele-related male infertility. Recently, roles of long noncoding RNAs (lncRNAs) in oxidative stress have begun to emerge, however, little is known about their role in male infertility. The aim of this study was to determine the role of lncRNA SLC7A11-AS1 in var...

journal_title：Frontiers in genetics

authors： Sanei-Ataabadi N,Mowla SJ,Nasr-Esfahani MH

更新日期：2020-09-11 00:00:00