Genetic variants in mRNA untranslated regions.

paper Cited Public

Authors: Steri, Maristella; Idda, M Laura; Whalen, Michael B; Orrù, Valeria
Year: 2018
Journal: Wiley interdisciplinary reviews. RNA
PMID: 29582564
DOI: 10.1002/wrna.1474
PMCID: PMC6002891

#	Section	Preview
80	WHAT IS KNOWN FROM GWAS STUDIES — An example of 3′UTR genetic regulation predisposing to autoimmunity	This is a classic example of hygiene hypothesis, in which a genetic variant for a long time…
81	WHAT IS KNOWN FROM GWAS STUDIES — Conclusions and perspectives	Genome-wide association studies (GWAS) have uncovered new areas of investigation into the…
82	WHAT IS KNOWN FROM GWAS STUDIES — Conclusions and perspectives	Toward this aim, the first test to perform after finding a genetic variant associated with a…
83	WHAT IS KNOWN FROM GWAS STUDIES — Conclusions and perspectives	Moreover, a polymorphism does not necessarily regulate the nearest gene. For instance, a systematic…
84	WHAT IS KNOWN FROM GWAS STUDIES — Conclusions and perspectives	Another issue to consider is that the spectrum of RNA products of RNA polymerase II has expanded…
85	WHAT IS KNOWN FROM GWAS STUDIES — Conclusions and perspectives	Other useful bioinformatic tools, although still in an early phase of verification, are represented…
86	WHAT IS KNOWN FROM GWAS STUDIES — Conclusions and perspectives	The lack of an immediate answer when a trait modifying genetic association is detected may first be…

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Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.	Dueñas Rey A et al.	—	2024	→
Dissection of the <i>E8</i> locus in two early maturing Canadian soybean populations.	Gélinas Bélanger J et al.	—	2024	→
Generation of Rhesus Macaque Embryos with Expanded CAG Trinucleotide Repeats in the <i>Huntingtin</i> Gene.	Ryu J et al.	—	2024	→
Genetic Variants at PRKCG Splice and UTR Sites Promote Cancer Susceptibility by Disrupting Epigenetic and miRNA Regulatory Network.	Abid F et al.	—	2024	→
Haemostatic gene variations in cervical cancer-associated venous thrombosis: considerations for clinical strategies.	Neto BV et al.	—	2024	→
Lung Cancer in Ever- and Never-Smokers: Findings from Multi-Population GWAS Studies.	Li Y et al.	—	2024	→
Machine learning-based classification reveals distinct clusters of non-coding genomic allelic variations associated with Erm-mediated antibiotic resistance.	Tan Y et al.	—	2024	→
Massively parallel screen uncovers many rare 3' UTR variants regulating mRNA abundance of cancer driver genes.	Fu T et al.	—	2024	→
Phenotypic correlates between clock genes and phenology among populations of Diederik cuckoo, <i>Chrysococcyx caprius</i>.	Le Clercq LS et al.	—	2024	→
The 5' untranslated region variant rs3811050 C/T of the interleukin-38 encoding gene is associated with susceptibility to rheumatoid arthritis in Iraqi women.	Bani-Wais DFN et al.	—	2024	→
The Effects of De Novo Mutation on Gene Expression and the Consequences for Fitness in Chlamydomonas reinhardtii.	Balogun EJ et al.	—	2024	→
"Unveiling the genetic symphony: Diversity and expression of chicken <i>IFITM</i> genes in Aseel and Kadaknath breeds".	Muthusamy M et al.	—	2024	→
Variant Classification Discordance: Contributing Factors and Predictive Models.	Ghaedi H et al.	—	2024	→
3' Untranslated Region Structural Elements in CYP24A1 Are Associated With Infantile Hypercalcemia Type 1.	Ball N et al.	—	2023	→
A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction.	Bohn E et al.	—	2023	→
Alcohol reverses the effects of KCNJ6 (GIRK2) noncoding variants on excitability of human glutamatergic neurons.	Popova D et al.	—	2023	→
Analysis of subcellular RNA fractions demonstrates significant genetic regulation of gene expression in human brain post-transcriptionally.	D'Sa K et al.	—	2023	→
A Pilot Genome-Wide Association Study Identifies Novel Markers of Metabolic Syndrome in Patients with Psoriasis.	Oh SM et al.	—	2023	→
Association of <i>BRCA2</i> Gene Functional Polymorphisms with Nonsyndromic Cleft Lip With or Without Cleft Palate in a Chinese Population.	Guo S et al.	—	2023	→
Functional characterization of the disease-associated <i>CCL2</i> rs1024611G-rs13900T haplotype: The role of the RNA-binding protein HuR	Akhtar F et al.	—	2023	—
GCLiPP: global crosslinking and protein purification method for constructing high-resolution occupancy maps for RNA binding proteins.	Zhu WS et al.	—	2023	→
Genetic bases of C7 deficiency: systematic review and report of a novel deletion determining functional hemizygosity.	Balduit A et al.	—	2023	→
Genetic variants associated with hantavirus infection in a reservoir host are related to regulation of inflammation and immune surveillance.	Pérez-Umphrey AA et al.	—	2023	→
Investigating the NRAS 5' UTR as a target for small molecules.	Balaratnam S et al.	—	2023	→
<i>SIGIRR</i> gene variants in term newborns with congenital heart defects and necrotizing enterocolitis.	Zaikova EK et al.	—	2023	→
Machine Learning Application Identifies Germline Markers of Hypertension in Patients With Ovarian Cancer Treated With Carboplatin, Taxane, and Bevacizumab.	Polano M et al.	—	2023	→
Mutate and observe: utilizing deep neural networks to investigate the impact of mutations on translation initiation.	Ozbulak U et al.	—	2023	→
Polymorphisms in corticotrophin-releasing hormone-proopiomalanocortin (CRH-POMC) system genes: Neuroimmune contributions to psoriasis disease.	Galimova E et al.	—	2023	→
Processing genome-wide association studies within a repository of heterogeneous genomic datasets.	Bernasconi A et al.	—	2023	→
Recent Trends in Antisense Therapies for Duchenne Muscular Dystrophy.	Wilton-Clark H et al.	—	2023	→
Role of non-coding variants in cardiovascular disease.	Heshmatzad K et al.	—	2023	→
The non-coding genome in Autism Spectrum Disorders.	Dominguez-Alonso S et al.	—	2023	→
The role of noncoding genetic variants in cardiomyopathy.	Htet M et al.	—	2023	→
Time trees and clock genes: a systematic review and comparative analysis of contemporary avian migration genetics.	Le Clercq LS et al.	—	2023	→
UTRdb 2.0: a comprehensive, expert curated catalog of eukaryotic mRNAs untranslated regions.	Lo Giudice C et al.	—	2023	→
A haplotype in the dipeptidyl peptidase 4 gene impacts glycemic-related traits of Brazilian older adults.	Alves ES et al.	—	2022	→
Characterization of Arabian Peninsula whole exomes: Contributing to the catalogue of human diversity.	Ferreira JC et al.	—	2022	→
Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs.	Silva GCV et al.	—	2022	→
Disease-associated human genetic variation through the lens of precursor and mature RNA structure.	Waldern JM et al.	—	2022	→
DNMT3A/<i>miR-129-2-5p</i>/Rac1 Is an Effector Pathway for <i>SNHG1</i> to Drive Stem-Cell-like and Invasive Behaviors of Advanced Bladder Cancer Cells.	Xu J et al.	—	2022	→
Expression Levels and Genetic Polymorphism of Scavenger Receptor Class B Type 1 as a Biomarker of Type 2 Diabetes Mellitus.	Wamique M et al.	—	2022	→
Genetic variants in eleven central and peripheral chemoreceptor genes in sudden infant death syndrome.	Neubauer J et al.	—	2022	→
IMGT<sup>®</sup> Biocuration and Analysis of the Rhesus Monkey IG Loci.	Nguefack Ngoune V et al.	—	2022	→
Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts.	Kingdom R et al.	—	2022	→
<i>PLK2</i> Single Nucleotide Variant in Gastric Cancer Patients Affects miR-23b-5p Binding.	Dominkuš PP et al.	—	2022	→
Lack of association between SOCS3 and SOCS7 polymorphisms and psoriasis.	Özçep M et al.	—	2022	→
Meta-analysis across Nellore cattle populations identifies common metabolic mechanisms that regulate feed efficiency-related traits.	Mota LFM et al.	—	2022	→
Mutational Analysis of the VPREB1 Gene of Pre-BCR Complex in a Cohort of Sporadic Pediatric Patients With B-Cell Acute Lymphoblastic Leukemia.	Naji P et al.	—	2022	→
PRKCE non-coding variants influence on transcription as well as translation of its gene.	Khan K et al.	—	2022	→
Regulatory role of miR-129 and miR-384-5p on apoptosis induced by oxygen and glucose deprivation in PC12 cell.	Guan HL et al.	—	2022	→
The emerging roles of PHOSPHO1 and its regulated phospholipid homeostasis in metabolic disorders.	Liu Y et al.	—	2022	→
The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases.	Alsheikh AJ et al.	—	2022	→
Whole-genome sequencing illuminates multifaceted targets of selection to humic substances in Eurasian perch.	Ozerov M et al.	—	2022	→
A bioinformatic approach to investigating cytokine genes and their receptor variants in relation to COVID-19 progression.	Karakas Celik S et al.	—	2021	→
Association between Sour Taste SNP <i>KCNJ2</i>-rs236514, Diet Quality and Mild Cognitive Impairment in an Elderly Cohort.	Ferraris C et al.	—	2021	→
Drivers of Gene Expression Dysregulation in Pancreatic Cancer.	Venkat S et al.	—	2021	→
Exploring Common Therapeutic Targets for Neurodegenerative Disorders Using Transcriptome Study.	Dharshini SAP et al.	—	2021	→
Functional analysis of <i>PCSK9</i> 3'UTR variants and mRNA-miRNA interactions in patients with familial hypercholesterolemia.	Los B et al.	—	2021	→
Functional and structural basis of extreme conservation in vertebrate 5' untranslated regions.	Byeon GW et al.	—	2021	→
Identification of 3'-UTR single nucleotide variants and prediction of select protein imbalance in mesial temporal lobe epilepsy patients.	Chaudhuri T et al.	—	2021	→
Identification of deleterious single nucleotide polymorphism (SNP)s in the human <i>TBX5</i> gene & prediction of their structural & functional consequences: An <i>in silico</i> approach.	Mahfuz AMUB et al.	—	2021	→
Identification of missense MAB21L1 variants in microphthalmia and aniridia.	Seese SE et al.	—	2021	→
Non-Coding Variants in Cancer: Mechanistic Insights and Clinical Potential for Personalized Medicine.	Lange M et al.	—	2021	→
Predicting mean ribosome load for 5'UTR of any length using deep learning.	Karollus A et al.	—	2021	→
RNA regulatory mechanisms that control antiviral innate immunity.	Gokhale NS et al.	—	2021	→
Single nucleotide polymorphisms (SNPs) in prostate cancer: its implications in diagnostics and therapeutics.	Allemailem KS et al.	—	2021	→
SNP prioritization in targeted sequencing data associated with humoral immune responses in chicken.	Suchocki T et al.	—	2021	→
Variability in porcine microRNA genes and its association with mRNA expression and lipid phenotypes.	Mármol-Sánchez E et al.	—	2021	→
5' UTR variants in the quantitative trait gene Hnrnph1 support reduced 5' UTR usage and hnRNP H protein as a molecular mechanism underlying reduced methamphetamine sensitivity.	Ruan QT et al.	—	2020	→
A genome-wide scan for candidate lethal variants in Thoroughbred horses.	Todd ET et al.	—	2020	→
Effects of HTR1B 3' region polymorphisms and functional regions on gene expression regulation.	Xia X et al.	—	2020	→
Evaluation of SCD, ACACA and FASN Mutations: Effects on Pork Quality and Other Production Traits in Pigs Selected Based on RNA-Seq Results.	Piórkowska K et al.	—	2020	→
Functional Analysis of Haplotypes in Bovine <i>PSAP</i> Gene and Their Relationship with Beef Cattle Production Traits.	Zhao H et al.	—	2020	→
Genetic polymorphisms in vitamin D pathway influence 25(OH)D levels and are associated with atopy and asthma.	Galvão AA et al.	—	2020	→
Genome-Wide Characterization of Alternative Splicing Events and Their Responses to Cold Stress in Tilapia.	Li BJ et al.	—	2020	→
Impact of SRY-Box Transcription Factor 11 Gene Polymorphisms on Oral Cancer Risk and Clinicopathologic Characteristics.	Yeh CM et al.	—	2020	→
Investigating the influence of mtDNA and nuclear encoded mitochondrial variants on high intensity interval training outcomes.	Harvey NR et al.	—	2020	→
MicroRNA binding site polymorphism in inflammatory genes associated with colorectal cancer: literature review and bioinformatics analysis.	Karimzadeh MR et al.	—	2020	→
Polymorphisms in human immunoglobulin heavy chain variable genes and their upstream regions.	Mikocziova I et al.	—	2020	→
The Role of Noncoding Variants in Heritable Disease.	French JD et al.	—	2020	→
Characterization of genome-wide genetic variations between two varieties of tea plant (Camellia sinensis) and development of InDel markers for genetic research.	Liu S et al.	—	2019	→
Pancreatic β-cell function is inhibited by miR-3666 in type 2 diabetes mellitus by targeting adiponectin.	Tan J et al.	—	2019	→
Rare single-nucleotide variants in oculo-auriculo-vertebral spectrum (OAVS).	Zamariolli M et al.	—	2019	→
Rs7219 Regulates the Expression of GRB2 by Affecting miR-1288-Mediated Inhibition and Contributes to the Risk of Schizophrenia in the Chinese Han Population.	Yang J et al.	—	2019	→
The Nudix Hydrolase 15 (NUDT15) Gene Variants among Jordanian Arab Population	Jarrar YB et al.	—	2019	→