Understanding the contribution of synonymous mutations to human disease.
paper
Cited
Public
Unavailable
- Authors
- Sauna, Zuben E; Kimchi-Sarfaty, Chava
- Year
- 2011
- Journal
- Nature reviews. Genetics
- PMID
- 21878961
- DOI
- 10.1038/nrg3051
Synonymous mutations - sometimes called 'silent' mutations - are now widely acknowledged to be able to cause changes in protein expression, conformation and function. The recent increase in knowledge about the association of genetic variants with disease, particularly through genome-wide association studies, has revealed a substantial contribution of synonymous SNPs to human disease risk and other complex traits. Here we review current understanding of the extent to which synonymous mutations influence disease, the various molecular mechanisms that underlie these effects and the implications for future research and biomedical applications.
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| Antioxidants-Related Superoxide Dismutase (<i>SOD</i>), Catalase (<i>CAT</i>), Glutathione Peroxidase (<i>GPX</i>), Glutathione-S-Transferase (<i>GST</i>), and Nitric Oxide Synthase (<i>NOS</i>) Gene Variants Analysis in an Obese Population: A Preliminary Case-Control Study. | Gusti AMT et al. | β | 2021 | β |
| Application of SNP in Genetic Sex Identification and Effect of Estradiol on Gene Expression of Sex-Related Genes in <i>Strongylocentrotus intermedius</i>. | Han YL et al. | β | 2021 | β |
| A single synonymous nucleotide change impacts the male-killing phenotype of prophage WO gene <i>wmk</i>. | Perlmutter JI et al. | β | 2021 | β |
| Assessing optimal: inequalities in codon optimization algorithms. | Ranaghan MJ et al. | β | 2021 | β |
| Association between novel variants in BMPR1B gene and litter size in Mongolia and Ujimqin sheep breeds. | Gao Y et al. | β | 2021 | β |
| A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing. | Hirsch Y et al. | β | 2021 | β |
| Case Report: A Synonymous Mutation in <i>NF1</i> Located at the Non-canonical Splicing Site Leading to Exon 45 Skipping. | Jin P et al. | β | 2021 | β |
| Case Report: Prenatal Whole-Exome Sequencing to Identify a Novel Heterozygous Synonymous Variant in NIPBL in a Fetus With Cornelia de Lange Syndrome. | Qiao F et al. | β | 2021 | β |
| Clinical and genetic analysis of classical Ehlers-Danlos syndrome patient caused by synonymous mutation in COL5A2. | Ma N et al. | β | 2021 | β |
| Codon usage bias analysis of genes linked with esophagus cancer. | Bordoloi H et al. | β | 2021 | β |
| Combining artificial intelligence: deep learning with Hi-C data to predict the functional effects of non-coding variants. | Meng XH et al. | β | 2021 | β |
| Common host variation drives malaria parasite fitness in healthy human red cells. | Ebel ER et al. | β | 2021 | β |
| Common Variants in the <i>TMPRSS6</i> Gene Alter Hepcidin but not Plasma Iron in Response to Oral Iron in Healthy Gambian Adults: A Recall-by-Genotype Study. | Jallow MW et al. | β | 2021 | β |
| Comparative Analysis of Genomic and Transcriptome Sequences Reveals Divergent Patterns of Codon Bias in Wheat and Its Ancestor Species. | Yang C et al. | β | 2021 | β |
| Co-translational folding of nascent polypeptides: Multi-layered mechanisms for the efficient biogenesis of functional proteins. | Maciuba K et al. | β | 2021 | β |
| Decoding the effects of synonymous variants. | Zeng Z et al. | β | 2021 | β |
| Determinants of efficient modulation of ribosomal traffic jams. | Vinokour S et al. | β | 2021 | β |
| Effects of Synonymous Mutations beyond Codon Bias: The Evidence for Adaptive Synonymous Substitutions from Microbial Evolution Experiments. | Bailey SF et al. | β | 2021 | β |
| Endometrial cancer with a POLE mutation progresses frequently through the type I pathway despite its high-grade endometrioid morphology: a cohort study at a single institution in Japan. | Monsur M et al. | β | 2021 | β |
| Estimating the predictive power of silent mutations on cancer classification and prognosis. | Gutman T et al. | β | 2021 | β |
| Eusociality Shapes Convergent Patterns of Molecular Evolution across Mitochondrial Genomes of Snapping Shrimps. | Chak STC et al. | β | 2021 | β |
| Evaluation of recurrent <i>GNPTAB</i>, <i>GNPTG</i>, and <i>NAGPA</i> variants associated with stuttering. | Gunasekaran ND et al. | β | 2021 | β |
| First Survey of SNPs in <i>TMEM154</i>, <i>TLR9</i>, <i>MYD88</i> and <i>CCR5</i> Genes in Sheep Reared in Italy and Their Association with Resistance to SRLVs Infection. | Arcangeli C et al. | β | 2021 | β |
| Functional analysis of novel genetic variants of NKX2-5 associated with nonsyndromic congenital heart disease. | Dixit R et al. | β | 2021 | β |
| Green, yellow or black? Genetic differentiation and adaptation signatures in a highly migratory marine turtle. | Γlvarez-Varas R et al. | β | 2021 | β |
| High expression levels and the C3435T SNP of the ABCB1 gene are associated with lower survival in adult patients with acute myeloblastic leukemia in Mexico City. | Olarte Carrillo I et al. | β | 2021 | β |
| <i>DACT1</i> variants and colorectal cancer. | Ghasemian M et al. | β | 2021 | β |
| Inferring Adaptive Codon Preference to Understand Sources of Selection Shaping Codon Usage Bias. | de Oliveira JL et al. | β | 2021 | β |
| Is our immune system a powerful vaccine factory? | Yamagishi MEB | β | 2021 | β |
| Leucine encoding codon TTG shows an inverse relationship with GC content in genes involved in neurodegeneration with iron accumulation. | Alqahtani T et al. | β | 2021 | β |
| Mistranslation Drives Alterations in Protein Levels and the Effects of a Synonymous Variant at the Fibroblast Growth Factor 21 Locus. | Bayoumi A et al. | β | 2021 | β |
| Mitochondrial nicotinamide adenine dinucleotide hydride dehydrogenase (NADH) subunit 4 (MTND4) polymorphisms and their association with male infertility. | Dahadhah FW et al. | β | 2021 | β |
| Mutations in the desert hedgehog (DHH) gene in the disorders of sexual differentiation and male infertility. | Mehta P et al. | β | 2021 | β |
| Natural genetic variation in Drosophila melanogaster reveals genes associated with Coxiella burnetii infection. | Guzman RM et al. | β | 2021 | β |
| Novel mutations in Uridyl-diphosphate-glucuronosyl-transferase 1A1 (UGT1A1) gene in Tunisian patients with unconjugated hyperbilirubinemia. | Trabelsi N et al. | β | 2021 | β |
| Population validation of reproductive gene mutation loci and association with the litter size in Nubian goat. | Zhang S et al. | β | 2021 | β |
| Protein innovation through template switching in the Saccharomyces cerevisiae lineage. | Abraham M et al. | β | 2021 | β |
| Ribosome occupancy profiles are conserved between structurally and evolutionarily related yeast domains. | Nissley DA et al. | β | 2021 | β |
| RMDisease: a database of genetic variants that affect RNA modifications, with implications for epitranscriptome pathogenesis. | Chen K et al. | β | 2021 | β |
| Single Nucleotide Polymorphisms in Genes Encoding Toll-Like Receptors 7 and 8 and Their Association with Proviral Load of SRLVs in Goats of Polish Carpathian Breed. | Olech M et al. | β | 2021 | β |
| Smart-ORF: a single-molecule method for accessing ribosome dynamics in both upstream and main open reading frames. | Gaba A et al. | β | 2021 | β |
| SPR/SERS dual-mode plasmonic biosensor via catalytic hairpin assembly-induced AuNP network. | Song C et al. | β | 2021 | β |
| Synonymous variants that disrupt messenger RNA structure are significantly constrained in the human population. | Gaither JBS et al. | β | 2021 | β |
| The Codon Usage Code for Cotranslational Folding of Viral Capsids. | PintΓ³ RM et al. | β | 2021 | β |
| The effects of codon bias and optimality on mRNA and protein regulation. | Hia F et al. | β | 2021 | β |
| The molecular clock gene cryptochrome 1 (<i>CRY1</i>) and its role in cluster headache. | Fourier C et al. | β | 2021 | β |
| The serotonin transporter gene and female personality variation in a free-living passerine. | Thys B et al. | β | 2021 | β |
| The Use of the Rare TTA Codon in <i>Streptomyces</i> Genes: Significance of the Codon Context? | Silov S et al. | β | 2021 | β |
| Variability in mRNA translation: a random matrix theory approach. | Margaliot M et al. | β | 2021 | β |
| A code within the genetic code: codon usage regulates co-translational protein folding. | Liu Y | β | 2020 | β |
| A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report. | Jacob A et al. | β | 2020 | β |
| A Functional Synonymous Variant in <i>PDGFRA</i> Is Associated with Better Survival in Acral Melanoma. | Dai J et al. | β | 2020 | β |
| A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family. | Sepahvand A et al. | β | 2020 | β |
| Algorithms for ribosome traffic engineering and their potential in improving host cells' titer and growth rate. | Zur H et al. | β | 2020 | β |
| Analysis of compositional properties and codon usage bias of mitochondrial CYB gene in anura, urodela and gymnophiona. | Barbhuiya PA et al. | β | 2020 | β |
| An Ensemble Approach to Predict the Pathogenicity of Synonymous Variants. | Ranganathan Ganakammal S et al. | β | 2020 | β |
| Association Between <i>LOX-1</i>, <i>LAL</i>, and <i>ACAT1</i> Gene Single Nucleotide Polymorphisms and Carotid Plaque in a Northern Chinese Population. | Zhang Q et al. | β | 2020 | β |
| Association of Maternal Diabetes Mellitus and Polymorphisms of the <i>NKX2.5</i> Gene in Children with Congenital Heart Disease: A Single Centre-Based Case-Control Study. | Zhao M et al. | β | 2020 | β |
| Associations between the Bovine Myostatin Gene and Milk Fatty Acid Composition in New Zealand Holstein-Friesian Γ Jersey-Cross Cows. | Haruna IL et al. | β | 2020 | β |
| Association study between vitiligo and autoimmune-related genes CYP27B1, REL, TNFAIP3, IL2 and IL21. | Martins LT et al. | β | 2020 | β |
| Bioinformatics and Computational Tools for Next-Generation Sequencing Analysis in Clinical Genetics. | Pereira R et al. | β | 2020 | β |
| Characterization and strong risk association of <i>TLR2 del -196</i> to <i>-174</i> polymorphism and <i>Helicobacter pylori</i> and their influence on mRNA expression in gastric cancer. | LourenΓ§o CM et al. | β | 2020 | β |
| Codon Selection Affects Recruitment of Ribosome-Associating Factors during Translation. | Rojano-Nisimura AM et al. | β | 2020 | β |
| Codon usage trend in genes associated with obesity. | Chakraborty S et al. | β | 2020 | β |
| Comparative and Functional Genomic Resource for Mechanistic Studies of Human Blood Pressure-Associated Single Nucleotide Polymorphisms. | Mishra MK et al. | β | 2020 | β |
| Comparison and integration of computational methods for deleterious synonymous mutation prediction. | Cheng N et al. | β | 2020 | β |
| Correlation between sperm mitochondrial ND5 and ND6 gene variations and total fertilisation failure. | Mao GH et al. | β | 2020 | β |
| CRISPR/Cas9 knock-in toward creating a Rett syndrome cell model with a synonymous mutation in the MECP2 gene. | Khalili Alashti S et al. | β | 2020 | β |
| CRL4-Cereblon complex in Thalidomide Embryopathy: a translational investigation. | Kowalski TW et al. | β | 2020 | β |
| CUBAP: an interactive web portal for analyzing codon usage biases across populations. | Hodgman MW et al. | β | 2020 | β |
| Design of Split Proximity Circuit as a Plug-and-Play Translator for Point Mutation Discrimination. | Ang YS et al. | β | 2020 | β |
| EST-SNP Study of <i>Olea europaea</i> L. Uncovers Functional Polymorphisms between Cultivated and Wild Olives. | Mariotti R et al. | β | 2020 | β |
| Exon-Trapping Assay Improves Clinical Interpretation of <i>COL11A1</i> and <i>COL11A2</i> Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia. | Micale L et al. | β | 2020 | β |
| Flavin-containing monooxygenase 3 (FMO3): genetic variants and their consequences for drug metabolism and disease. | Phillips IR et al. | β | 2020 | β |
| Genetic variant of <i>SPARC</i> gene and its association with growth traits in Chinese cattle. | Zhang D et al. | β | 2020 | β |
| Interplay between Position-Dependent Codon Usage Bias and Hydrogen Bonding at the 5' End of ORFeomes. | Villada JC et al. | β | 2020 | β |
| Intragenic and structural variation in the <i>SMN</i> locus and clinical variability in spinal muscular atrophy. | Wadman RI et al. | β | 2020 | β |
| Links between SNPs in <i>TLR-2</i> and <i>TLR-4</i> and idiopathic recurrent pregnancy loss. | Bahia W et al. | β | 2020 | β |
| Loss of the KH1 domain of FMR1 in humans due to a synonymous variant causes global developmental retardation. | Carion N et al. | β | 2020 | β |
| m7GHub: deciphering the location, regulation and pathogenesis of internal mRNA N7-methylguanosine (m7G) sites in human. | Song B et al. | β | 2020 | β |
| Machine-Learned Association of Next-Generation Sequencing-Derived Variants in Thermosensitive Ion Channels Genes with Human Thermal Pain Sensitivity Phenotypes. | LΓΆtsch J et al. | β | 2020 | β |
| Mitochondrial genome variation in male LHON patients with the m.11778Gβ>βA mutation. | Piotrowska-Nowak A et al. | β | 2020 | β |
| Molecular analysis of the massive GSH transport mechanism mediated by the human Multidrug Resistant Protein 1/ABCC1. | Nasr R et al. | β | 2020 | β |
| Mutational bias and the protein code shape the evolution of splicing enhancers. | Rong S et al. | β | 2020 | β |
| Mutation screening of the UBE3A gene in Chinese Han population with autism. | Zhao X et al. | β | 2020 | β |
| Nonoptimal Codon Usage Is Critical for Protein Structure and Function of the Master General Amino Acid Control Regulator CPC-1. | Lyu X et al. | β | 2020 | β |
| Pathogen-associated selection on innate immunity genes (TLR4, TLR7) in a neotropical rodent in landscapes differing in anthropogenic disturbance. | Heni AC et al. | β | 2020 | β |
| Putting Genetics Into Practice: Challenges Associated With the Genetics of Short Telomere Syndromes. | van Moorsel CHM | β | 2020 | β |
| Selection Shapes Synonymous Stop Codon Use in Mammals. | Seoighe C et al. | β | 2020 | β |
| Somatic synonymous mutations in regulatory elements contribute to the genetic aetiology of melanoma. | Zhang D et al. | β | 2020 | β |
| Synonymous Mutation in DKC1 Causes Telomerase RNA Insufficiency Manifesting as Familial Pulmonary Fibrosis. | Gaysinskaya V et al. | β | 2020 | β |
| TERT-rs33963617 and CLPTM1L-rs77518573 reduce the risk of non-small cell lung cancer in Chinese population. | Ji Z et al. | β | 2020 | β |
| The Association of <i>OTX1</i> rs17850223 Polymorphisms in Han Chinese Patients with Idiopathic Epilepsy. | Lv J et al. | β | 2020 | β |
| The Effect of Synonymous Single-Nucleotide Polymorphisms on an Atypical Cystic Fibrosis Clinical Presentation. | Bampi GB et al. | β | 2020 | β |
| Unmasking Intra-tumoral Heterogeneity and Clonal Evolution in NF1-MPNST. | Moon CI et al. | β | 2020 | β |
| Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars. | Canson D et al. | β | 2020 | β |
| Widespread non-modular overlapping codes in the coding regions. | Bergman S et al. | β | 2020 | β |
| Analysis of NKX2-5 in 439 Chinese Patients with Sporadic Atrial Septal Defect. | Wang H et al. | β | 2019 | β |
| An analysis of mutational signatures of synonymous mutations across 15 cancer types. | Bin Y et al. | β | 2019 | β |
| A pan-cancer analysis of synonymous mutations. | Sharma Y et al. | β | 2019 | β |
| A single synonymous mutation determines the phosphorylation and stability of the nascent protein. | Karakostis K et al. | β | 2019 | β |
| A Single Synonymous Variant (c.354G>A [p.P118P]) in <i>ADAMTS13</i> Confers Enhanced Specific Activity. | Hunt R et al. | β | 2019 | β |
| Assessing cell-specific effects of genetic variations using tRNA microarrays. | Polte C et al. | β | 2019 | β |
| Association of Polymorphisms in Candidate Genes with the Litter Size in Two Sheep Breeds. | Yuan Z et al. | β | 2019 | β |
| Association Study of <i>ARMC9</i> Gene Variants with Vogt-Koyanagi-Harada Disease in Japanese Patients. | Ohno T et al. | β | 2019 | β |
| A synonymous germline variant in a gene encoding a cell adhesion molecule is associated with cutaneous mast cell tumour development in Labrador and Golden Retrievers. | Biasoli D et al. | β | 2019 | β |
| Combined Pituitary Hormone Deficiency Caused by a Synonymous HESX1 Gene Mutation. | Coutinho E et al. | β | 2019 | β |
| Common p2y<sub>13</sub> polymorphisms are associated with plasma inhibitory factor 1 and lipoprotein(a) concentrations, heart rate and body fat mass: The GENES study. | Verdier C et al. | β | 2019 | β |
| Computational analysis of functional SNPs in Alzheimer's disease-associated endocytosis genes. | Tey HJ et al. | β | 2019 | β |
| Efficacy of antiepileptic drugs in the era of pharmacogenomics: A focus on childhood. | Gogou M et al. | β | 2019 | β |
| Efficient Nuclease-free HR by Clade F AAV Requires High MOIs with High Quality Vectors. | Chatterjee S | β | 2019 | β |
| Exome sequencing in patients with chronic central serous chorioretinopathy. | Schellevis RL et al. | β | 2019 | β |
| Family-based germline sequencing in children with cancer. | Kuhlen M et al. | β | 2019 | β |
| Genetic determinants of activity and antigen levels of contact system factors. | Rohmann JL et al. | β | 2019 | β |
| Genotypic-Phenotypic Screening of Galectin-3 in Relation to Risk Towards Rheumatoid Arthritis. | Kaur T et al. | β | 2019 | β |
| High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism. | GonΓ§alves CI et al. | β | 2019 | β |
| Implication of GATA4 synonymous variants in congenital heart disease: A comprehensive in-silico approach. | Dixit R et al. | β | 2019 | β |
| Innovative strategies for annotating the "relationSNP" between variants and molecular phenotypes. | Miller JE et al. | β | 2019 | β |
| In Silico Target Prediction for Small Molecules. | Byrne R et al. | β | 2019 | β |
| Leucine Rich Repeat Proteins: Sequences, Mutations, Structures and Diseases. | Matsushima N et al. | β | 2019 | β |
| Locating potentially lethal genes using the abnormal distributions of genotypes. | Ding X et al. | β | 2019 | β |
| Obstetric complication-associated ANXA5 promoter polymorphisms may affect gene expression via DNA secondary structures. | Inagaki H et al. | β | 2019 | β |
| Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform. | Sun Y et al. | β | 2019 | β |
| Polymorphisms of genes encoding drug transporters or cytochrome P450 enzymes and association with clinical response in cancer patients: a systematic review. | Kulma I et al. | β | 2019 | β |
| Predicting Functional Effects of Synonymous Variants: A Systematic Review and Perspectives. | Zeng Z et al. | β | 2019 | β |
| Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer. | Tonin R et al. | β | 2019 | β |
| Relation Between Genetic Factors and Frailty in Older Adults. | InglΓ©s M et al. | β | 2019 | β |
| Resistance to paclitaxel is associated with a variant of the gene BCL2 in multiple tumor types. | Ben-Hamo R et al. | β | 2019 | β |
| Single-Nucleotide Polymorphisms (SNP) Mining and Their Effect on the Tridimensional Protein Structure Prediction in a Set of Immunity-Related Expressed Sequence Tags (EST) in Atlantic Salmon (<i>Salmo salar</i>). | Vallejos-Vidal E et al. | β | 2019 | β |
| Somatic Mitochondrial Mutations in Oral Cavity Cancers among Senegalese Patients. | Toure S et al. | β | 2019 | β |
| [Synonymous Codon Usage-a Guide for Co-Translational Protein Folding in the Cell]. | Komar AA | β | 2019 | β |
| Targeted genomic profiling identifies frequent deleterious mutations in FAT4 and TP53 genes in HBV-associated hepatocellular carcinoma. | Huang FY et al. | β | 2019 | β |
| Target-Triggered Polymerization of Branched DNA Enables Enzyme-free and Fast Discrimination of Single-Base Changes. | Dong Y et al. | β | 2019 | β |
| The p53 mRNA: an integral part of the cellular stress response. | Haronikova L et al. | β | 2019 | β |
| The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome. | Berner D et al. | β | 2019 | β |
| Translating Alzheimer's disease-associated polymorphisms into functional candidates: a survey of IGAP genes and SNPs. | Katsumata Y et al. | β | 2019 | β |
| Translatomics: The Global View of Translation. | Zhao J et al. | β | 2019 | β |
| Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation. | Shohet A et al. | β | 2019 | β |
| Variation and selection on codon usage bias across an entire subphylum. | LaBella AL et al. | β | 2019 | β |
| ACE gene rs4343 polymorphism elevates the risk of preeclampsia in pregnant women. | Abedin Do A et al. | β | 2018 | β |
| A novel synonymous variant in the F8 gene, p.(Leu40=)/c.120C>A, likely causes mild haemophilia A. | Inaba H et al. | β | 2018 | β |
| Association of <i>FOXE3</i>-p.Ala170Ala and <i>PITX3</i>-p.Ile95Ile Polymorphisms with Congenital Cataract and Microphthalmia. | Vidya NG et al. | β | 2018 | β |
| A synonymous RET substitution enhances the oncogenic effect of an in-cis missense mutation by increasing constitutive splicing efficiency. | Pecce V et al. | β | 2018 | β |
| Autosomal recessive congenital cataract in captive-bred vervet monkeys (Chlorocebus aethiops). | Magwebu ZE et al. | β | 2018 | β |
| Codon bias among synonymous rare variants is associated with Alzheimer's disease imaging biomarker. | Miller JE et al. | β | 2018 | β |
| Codon Usage Bias in Animals: Disentangling the Effects of Natural Selection, Effective Population Size, and GC-Biased Gene Conversion. | Galtier N et al. | β | 2018 | β |
| Codon usage regulates human KRAS expression at both transcriptional and translational levels. | Fu J et al. | β | 2018 | β |
| Comprehensive Analysis of Constraint on the Spatial Distribution of Missense Variants in Human Protein Structures. | Sivley RM et al. | β | 2018 | β |
| Effect of Mutations on the Global and Site-Specific Stability and Folding of an Elementary Protein Structural Motif. | Lai JK et al. | β | 2018 | β |
| Effects of genetic variants in the TSPO gene on protein structure and stability. | Milenkovic VM et al. | β | 2018 | β |
| Evolutionary analysis of polyproline motifs in Escherichia coli reveals their regulatory role in translation. | Qi F et al. | β | 2018 | β |
| Functional Partitioning of Genomic Variance and Genome-Wide Association Study for Carcass Traits in Korean Hanwoo Cattle Using Imputed Sequence Level SNP Data. | Bhuiyan MSA et al. | β | 2018 | β |
| Genome wide analyses uncover allele-specific RNA editing in human and mouse. | Zhou ZY et al. | β | 2018 | β |
| Genomic analysis of <i>Sparus aurata</i> reveals the evolutionary dynamics of sex-biased genes in a sequential hermaphrodite fish. | Pauletto M et al. | β | 2018 | β |
| Germline single nucleotide polymorphisms in ERBB3 and BARD1 genes result in a worse relapse free survival response for HER2-positive breast cancer patients treated with adjuvant based docetaxel, carboplatin and trastuzumab (TCH). | CotΓ© D et al. | β | 2018 | β |
| GLTSCR1, ATM, PPP1R13L and CD3EAP Genetic Variants and Lung Cancer Risk in a Chinese Population. | Yin JY et al. | β | 2018 | β |
| GNE myopathy caused by a synonymous mutation leading to aberrant mRNA splicing. | Zhu W et al. | β | 2018 | β |
| Highly deleterious variations in COX1, CYTB, SCG5, FK2, PRL and PGF genes are the potential adaptation of the immigrated African ostrich population. | Al-Shuhaib MBS et al. | β | 2018 | β |
| Imbalance learning for the prediction of N<sup>6</sup>-Methylation sites in mRNAs. | Zhao Z et al. | β | 2018 | β |
| Influence of the geographic distribution of prion protein gene sequence variation on patterns of chronic wasting disease spread in white-tailed deer (Odocoileus virginianus). | Brandt AL et al. | β | 2018 | β |
| Involvement of human monogenic cardiomyopathy genes in experimental polygenic cardiac hypertrophy. | Prestes PR et al. | β | 2018 | β |
| Loss of the candidate tumor suppressor ZEB1 (TCF8, ZFHX1A) in SΓ©zary syndrome. | Caprini E et al. | β | 2018 | β |
| "Lost in translation: Seeing the forest by focusing on the trees". | Hughes KT et al. | β | 2018 | β |
| m6ASNP: a tool for annotating genetic variants by m6A function. | Jiang S et al. | β | 2018 | β |
| m6AVar: a database of functional variants involved in m6A modification. | Zheng Y et al. | β | 2018 | β |
| Machine-learned analysis of the association of next-generation sequencing-based human TRPV1 and TRPA1 genotypes with the sensitivity to heat stimuli and topically applied capsaicin. | Kringel D et al. | β | 2018 | β |
| Mapping Causal Variants with Single-Nucleotide Resolution Reveals Biochemical Drivers of Phenotypic Change. | She R et al. | β | 2018 | β |
| Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3. | Sassi C et al. | β | 2018 | β |
| Molecular cloning, polymorphism, and expression analysis of the LKB1/STK11 gene and its association with non-specific digestive disorder in rabbits. | Li Y et al. | β | 2018 | β |
| Mutation and recombination in pathogen evolution: Relevance, methods and controversies. | Arenas M et al. | β | 2018 | β |
| Noncoding RNA Expression and Targeted Next-Generation Sequencing Distinguish Tubulocystic Renal Cell Carcinoma (TC-RCC) from Other Renal Neoplasms. | Lawrie CH et al. | β | 2018 | β |
| Non-equilibrium coupling of protein structure and function to translation-elongation kinetics. | Sharma AK et al. | β | 2018 | β |
| Novel compound heterozygous CLCNKB gene mutations (c.1755A>G/c.848_850delTCT) cause classic Bartter syndrome. | Wang C et al. | β | 2018 | β |
| On the origin of obesity: identifying the biological, environmental and cultural drivers of genetic risk among human populations. | Qasim A et al. | β | 2018 | β |
| PKP2 and DSG2 genetic variations in Latvian arrhythmogenic right ventricular dysplasia/cardiomyopathy registry patients. | Bidina L et al. | β | 2018 | β |
| Potential dysfunctional effects of synonymous variants: Insights from an exhaustive in silico analysis of the ABCB4 gene. | Khabou B et al. | β | 2018 | β |
| Potential role of Toll-like receptor 2 expression and polymorphisms in colon cancer susceptibility in the Saudi Arabian population. | Semlali A et al. | β | 2018 | β |
| Realizing the significance of noncoding functionality in clinical genomics. | Gloss BS et al. | β | 2018 | β |
| Recognition of the polycistronic nature of human genes is critical to understanding the genotype-phenotype relationship. | Brunet MA et al. | β | 2018 | β |
| Relationship of polymorphisms in the tissue inhibitor of metalloproteinase (TIMP)-1 and -2 genes with chronic heart failure. | Polina ER et al. | β | 2018 | β |
| SNP-based susceptibility-resistance association and mRNA expression regulation analyses of tlr7 to grass carp Ctenopharyngodon idella reovirus. | Su JJ et al. | β | 2018 | β |
| STADIUM: Species-Specific tRNA Adaptive Index Compendium. | Yoon J et al. | β | 2018 | β |
| Structural Origins of FRET-Observed Nascent Chain Compaction on the Ribosome. | Nissley DA et al. | β | 2018 | β |
| Synonymous mutation adenomatous polyposis coliΞ486s affects exon splicing and may predispose patients to adenomatous polyposis coli/mutY DNA glycosylase mutationβnegative familial adenomatous polyposis. | Liu WQ et al. | β | 2018 | β |
| Synonymous mutations make dramatic contributions to fitness when growth is limited by a weak-link enzyme. | Kristofich J et al. | β | 2018 | β |
| Systematic Analysis of Splice-Site-Creating Mutations in Cancer. | Jayasinghe RG et al. | β | 2018 | β |
| The association between PIN1 genetic polymorphisms and the risk of chronic hepatitis B and hepatitis B virus-related liver cirrhosis: A case-control study. | Huang L et al. | β | 2018 | β |
| The fitness landscape of the codon space across environments. | Fragata I et al. | β | 2018 | β |
| The genetic polymorphisms of TGFΞ² superfamily genes are associated with litter size in a Chinese indigenous sheep breed (Hu sheep). | Wang W et al. | β | 2018 | β |
| The germline mutational landscape of BRCA1 and BRCA2 in Brazil. | Palmero EI et al. | β | 2018 | β |
| The proteinopathy of D169G and K263E mutants at the RNA Recognition Motif (RRM) domain of tar DNA-binding protein (tdp43) causing neurological disorders: A computational study. | Bhandare VV et al. | β | 2018 | β |
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| Genetic variation in the CYP1A1 gene is related to circulating PCB118 levels in a population-based sample. | Lind L et al. | β | 2014 | β |
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| Single-nucleotide variations defining previously unreported ADAMTS13 haplotypes are associated with differential expression and activity of the VWF-cleaving protease in a Salvadoran congenital thrombotic thrombocytopenic purpura family. | Kim B et al. | β | 2014 | β |
| Synonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndrome. | Wambach JA et al. | β | 2014 | β |
| Synonymous mutations frequently act as driver mutations in human cancers. | Supek F et al. | β | 2014 | β |
| Systematic dissection of coding exons at single nucleotide resolution supports an additional role in cell-specific transcriptional regulation. | Birnbaum RY et al. | β | 2014 | β |
| Targeted next-generation sequencing and non-coding RNA expression analysis of clear cell papillary renal cell carcinoma suggests distinct pathological mechanisms from other renal tumour subtypes. | Lawrie CH et al. | β | 2014 | β |
| The effect of tRNA levels on decoding times of mRNA codons. | Dana A et al. | β | 2014 | β |
| Three-dimensional eukaryotic genomic organization is strongly correlated with codon usage expression and function. | Diament A et al. | β | 2014 | β |
| Timing is everything: unifying codon translation rates and nascent proteome behavior. | Nissley DA et al. | β | 2014 | β |
| TLR4 single nucleotide polymorphisms (SNPs) associated with Salmonella shedding in pigs. | Kich JD et al. | β | 2014 | β |
| TP53 mutations in human cancer: database reassessment and prospects for the next decade. | Leroy B et al. | β | 2014 | β |
| Unraveling patterns of site-to-site synonymous rates variation and associated gene properties of protein domains and families. | Dimitrieva S et al. | β | 2014 | β |
| A gene-specific method for predicting hemophilia-causing point mutations. | Hamasaki-Katagiri N et al. | β | 2013 | β |
| A novel synonymous mutation causing complete skipping of exon 16 in the SLC26A4 gene in a Korean family with hearing loss. | Kim Y et al. | β | 2013 | β |
| Association of common single-nucleotide polymorphisms in innate immune genes with differences in TLR-induced cytokine production in neonates. | Cho P et al. | β | 2013 | β |
| Associations between two genetic variants in NKX2-5 and risk of congenital heart disease in Chinese population: a meta-analysis. | Wang Z et al. | β | 2013 | β |
| A synonymous mutation in NOD2 gene was significantly associated with non-specific digestive disorder in rabbit. | Zhang WX et al. | β | 2013 | β |
| Building better drugs: developing and regulating engineered therapeutic proteins. | Kimchi-Sarfaty C et al. | β | 2013 | β |
| CPAP: Cancer Panel Analysis Pipeline. | Huang PJ et al. | β | 2013 | β |
| CXCR5 polymorphisms in non-Hodgkin lymphoma risk and prognosis. | Charbonneau B et al. | β | 2013 | β |
| Digenic inheritance in autosomal recessive non-syndromic hearing loss cases carrying GJB2 heterozygote mutations: assessment of GJB4, GJA1, and GJC3. | Kooshavar D et al. | β | 2013 | β |
| Dogs and humans share a common susceptibility gene SRBD1 for glaucoma risk. | Kanemaki N et al. | β | 2013 | β |
| Evaluation of PAX3 genetic variants and nevus number. | Ogbah Z et al. | β | 2013 | β |
| Evolution. The hidden codes that shape protein evolution. | Weatheritt RJ et al. | β | 2013 | β |
| Exome sequencing analysis: a guide to disease variant detection. | Isakov O et al. | β | 2013 | β |
| Genetic variants in BMP8B gene are associated with growth traits in Chinese native cattle. | Cao XK et al. | β | 2013 | β |
| Genome-wide association study identifies common variants in SLC39A6 associated with length of survival in esophageal squamous-cell carcinoma. | Wu C et al. | β | 2013 | β |
| Genome-wide survey of interindividual differences of RNA stability in human lymphoblastoid cell lines. | Duan J et al. | β | 2013 | β |
| GWAS3D: Detecting human regulatory variants by integrative analysis of genome-wide associations, chromosome interactions and histone modifications. | Li MJ et al. | β | 2013 | β |
| Human coding synonymous single nucleotide polymorphisms at ramp regions of mRNA translation. | Li Q et al. | β | 2013 | β |
| Identification and Association of SNPs in TBC1D1 Gene with Growth Traits in Two Rabbit Breeds. | Yang ZJ et al. | β | 2013 | β |
| Identification of deleterious synonymous variants in human genomes. | Buske OJ et al. | β | 2013 | β |
| Identification of genetic variants influencing the human plasma proteome. | Johansson Γ et al. | β | 2013 | β |
| Molecular cloning, tissue expression and SNP analysis in the goat nerve growth factor gene. | An X et al. | β | 2013 | β |
| Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene. | Cury GK et al. | β | 2013 | β |
| Multiple in silico tools predict phenotypic manifestations in congenital thrombotic thrombocytopenic purpura. | Hing ZA et al. | β | 2013 | β |
| Network-based stratification of tumor mutations. | Hofree M et al. | β | 2013 | β |
| NOD2 polymorphisms and pulmonary tuberculosis susceptibility: a systematic review and meta-analysis. | Wang C et al. | β | 2013 | β |
| [Noisy silent polymorphisms]. | Korzeniewski S et al. | β | 2013 | β |
| Novel associations of VKORC1 variants with higher acenocoumarol requirements. | Anton AI et al. | β | 2013 | β |
| Pharmacogenomics of Cytauxzoon felis cytochrome b: implications for atovaquone and azithromycin therapy in domestic cats with cytauxzoonosis. | Schreeg ME et al. | β | 2013 | β |
| Polymorphism of NLRP3 Gene and Association with Susceptibility to Digestive Disorders in Rabbit. | Yang Y et al. | β | 2013 | β |
| Polymorphisms in TLR-2 are associated with congenital cytomegalovirus (CMV) infection but not with congenital CMV disease. | Taniguchi R et al. | β | 2013 | β |
| Prognostic assessment of apoptotic gene polymorphisms in non-small cell lung cancer in Chinese. | Cao S et al. | β | 2013 | β |
| Quantifying elongation rhythm during full-length protein synthesis. | Rosenblum G et al. | β | 2013 | β |
| Reconstitution of CKMT1 expression fails to rescue cells from mitochondrial membrane potential dissipation: implications for controlling RNAi experiments. | Datler C et al. | β | 2013 | β |
| Sensitive measurement of single-nucleotide polymorphism-induced changes of RNA conformation: application to disease studies. | Salari R et al. | β | 2013 | β |
| Sequence and structure-specific elements of HERG mRNA determine channel synthesis and trafficking efficiency. | Sroubek J et al. | β | 2013 | β |
| Sequence capture and massively parallel sequencing to detect mutations associated with malignant hyperthermia. | Schiemann AH et al. | β | 2013 | β |
| Sounds of silence: synonymous nucleotides as a key to biological regulation and complexity. | Shabalina SA et al. | β | 2013 | β |
| Strong purifying selection at synonymous sites in D. melanogaster. | Lawrie DS et al. | β | 2013 | β |
| Synonymous codon changes in the oncogenes of the cottontail rabbit papillomavirus lead to increased oncogenicity and immunogenicity of the virus. | Cladel NM et al. | β | 2013 | β |
| Targeted deep resequencing identifies coding variants in the PEAR1 gene that play a role in platelet aggregation. | Kim Y et al. | β | 2013 | β |
| The silent codon change I507-ATC->ATT contributes to the severity of the ΞF508 CFTR channel dysfunction. | Lazrak A et al. | β | 2013 | β |
| The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12. | Goldsmith T et al. | β | 2013 | β |
| The T allele of lysyl oxidase-like 1 rs41435250 is a novel risk factor for pseudoexfoliation syndrome and pseudoexfoliation glaucoma independently and through intragenic epistatic interaction. | Guadarrama-Vallejo D et al. | β | 2013 | β |
| Toll-like receptor 1 N248S single-nucleotide polymorphism is associated with leprosy risk and regulates immune activation during mycobacterial infection. | Marques Cde S et al. | β | 2013 | β |
| Toll-like receptor variants are associated with infant HIV-1 acquisition and peak plasma HIV-1 RNA level. | Beima-Sofie KM et al. | β | 2013 | β |
| Translational selection frequently overcomes genetic drift in shaping synonymous codon usage patterns in vertebrates. | Doherty A et al. | β | 2013 | β |
| Variants at chromosome 10q26 locus and the expression of HTRA1 in the retina. | Wang G et al. | β | 2013 | β |
| Vitamin D-related host genetic variants alter HIV disease progression in children. | Moodley A et al. | β | 2013 | β |
| Whole-exome sequencing identifies a polymorphism in the BMP5 gene associated with SSRI treatment response in major depression. | Tammiste A et al. | β | 2013 | β |
| Whole-genome sequencing identifies a recurrent functional synonymous mutation in melanoma. | Gartner JJ et al. | β | 2013 | β |
| A common variant in ERBB4 regulates GABA concentrations in human cerebrospinal fluid. | Luykx JJ et al. | β | 2012 | β |
| Analysis of F9 point mutations and their correlation to severity of haemophilia B disease. | Hamasaki-Katagiri N et al. | β | 2012 | β |
| A single nucleotide polymorphism of IL-21 gene is associated with systemic lupus erythematosus in a Chinese population. | Ding L et al. | β | 2012 | β |
| Characterization of coding synonymous and non-synonymous variants in ADAMTS13 using ex vivo and in silico approaches. | Edwards NC et al. | β | 2012 | β |
| DNA replication timing and selection shape the landscape of nucleotide variation in cancer genomes. | Woo YH et al. | β | 2012 | β |
| Evolutionary constraint helps unmask a splicing regulatory region in BRCA1 exon 11. | Raponi M et al. | β | 2012 | β |
| Expression determinants of mammalian argonaute proteins in mediating gene silencing. | Valdmanis PN et al. | β | 2012 | β |
| Genetic and functional analysis of the NKX2-5 gene promoter in patients with ventricular septal defects. | Pang S et al. | β | 2012 | β |
| Genetic polymorphism in dopamine receptor D4 is associated with early body condition in a large population of greater flamingos, Phoenicopterus roseus. | Gillingham MA et al. | β | 2012 | β |
| Genome analysis of the domestic dog (Korean Jindo) by massively parallel sequencing. | Kim RN et al. | β | 2012 | β |
| Hyperfunctional coagulation factor IX improves the efficacy of gene therapy in hemophilic mice. | Cantore A et al. | β | 2012 | β |
| Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress. | Lyon GJ et al. | β | 2012 | β |
| Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment. | Usifo E et al. | β | 2012 | β |
| Modeling disease mutations by gene targeting in one-cell mouse embryos. | Meyer M et al. | β | 2012 | β |
| Multiple levels of meaning in DNA sequences, and one more. | Trifonov EN et al. | β | 2012 | β |
| Next generation sequencing for molecular diagnosis of neuromuscular diseases. | Vasli N et al. | β | 2012 | β |
| Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders. | Rabbani B et al. | β | 2012 | β |
| Origin and evolution of genes and genomes. Crucial role of triplet expansions. | Frenkel ZM et al. | β | 2012 | β |
| Prevalence of TP53 germ line mutations in young Pakistani breast cancer patients. | Rashid MU et al. | β | 2012 | β |
| Reduced mRNA secondary-structure stability near the start codon indicates functional genes in prokaryotes. | Keller TE et al. | β | 2012 | β |
| Resequencing of the auxiliary GABA(B) receptor subunit gene KCTD12 in chronic tinnitus. | Sand PG et al. | β | 2012 | β |
| [The sound of silence]. | Jordan B | β | 2012 | β |
| Transcriptional enhancers in development and disease. | Sakabe NJ et al. | β | 2012 | β |
| Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. | Bower M et al. | β | 2012 | β |
| Variation at innate immunity Toll-like receptor genes in a bottlenecked population of a New Zealand robin. | Grueber CE et al. | β | 2012 | β |
| VEGF pathway genetic variants as biomarkers of treatment outcome with bevacizumab: an analysis of data from the AViTA and AVOREN randomised trials. | Lambrechts D et al. | β | 2012 | β |
| Whole genome sequencing for quantifying germline mutation frequency in humans and model species: cautious optimism. | Beal MA et al. | β | 2012 | β |
| Breaking the silence. | Katsnelson A | β | 2011 | β |
| RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients. | So MT et al. | β | 2011 | β |