Results 71 to 80 of about 1,458 (100)
Synonymous Variants of Uncertain Silence
International Journal of Molecular Sciences, 2023 Synonymous variants, traditionally regarded as silent mutations due to their lack of impact on protein sequence, structure and function, have been the subject of increasing scrutiny. This commentary explores the emerging evidence challenging the notion of synonymous variants as functionally inert.
Jérôme I Rotter +2 more
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An Ensemble Approach to Predict the Pathogenicity of Synonymous Variants [PDF]
Genes, 2020 Single-nucleotide variants (SNVs) are a major form of genetic variation in the human genome that contribute to various disorders. There are two types of SNVs, namely non-synonymous (missense) variants (nsSNVs) and synonymous variants (sSNVs), predominantly involved in RNA processing or gene regulation. sSNVs, unlike missense or nsSNVs, do not alter the
Emil Alexov, Alexov Emil
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Nonsynonymous Synonymous Variants Demand for a Paradigm Shift in Genetics
Current Genomics, 2023 Abstract: Synonymous (also known as silent) variations are by definition not considered to change the coded protein. Still many variations in this category affect either protein abundance or properties. As this situation is confusing, we have recently introduced systematics for synonymous variations and those that may on the surface look like ...
Mauno Vihinen
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Most synonymous allelic variants in HIV tat are not silent
Genomics, 2023 The genetic code has degenerate codons that produce no change in the translated protein sequence and are generally thought to be silent. However, some synonymous variants are clearly not silent. Herein, we questioned the frequency of non-silent synonymous variants.
Martin R Schiller
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A synonymous variant is unmasked in thalassaemia
British Journal of Haematology, 2023The genetic underpinnings of beta‐thalassaemia encompass a myriad of molecular mechanisms. The ability of synonymous mutations, an often‐overlooked category of variants, to influence β‐globin expression and phenotypic disease is highlighted by this report by Gorivale et al.Commentary on: Gorivale et al.
Ryan C. Hunt, Chava Kimchi‐Sarfaty
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Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease
The Journal of Molecular Diagnostics, 2023Wilson disease (WD) is a hereditary disorder of copper metabolism, resulting from mutations within ATP7B. Early diagnosis is essential for affected individuals. However, there are still patients with clinically suspected WD who do not have detectable pathogenic variants, which makes diagnosis difficult and delays treatment.
Wan-Qing Xu +3 more
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CYP2C76 Non-synonymous Variants in Cynomolgus and Rhesus Macaques
Drug Metabolism and Pharmacokinetics, 2012 Cynomolgus CYP2C76, not orthologous to any human cytochrome P450, partly accounts for species differences in drug metabolism between cynomolgus macaques and humans. To discover the CYP2C76 variants, we previously surveyed cynomolgus macaque genomes and found several non-synonymous variants, including a null allele.
Yasuhiro Uno +2 more
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2022
We should not be ignored in clinical and genetic diagnosis of the disease.
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We should not be ignored in clinical and genetic diagnosis of the disease.
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Identification and in silico characterization of CSRP3 synonymous variants in dilated cardiomyopathy
Molecular Biology Reports, 2023Synonymous variations have always been ignored while studying the underlying genetic mechanisms for most of the human diseases. However, recent studies have suggested that these silent changes in the genome can alter the protein expression and folding.CSRP3, which is a well-known candidate gene associated with dilated cardiomyopathy (DCM) and ...
Prerna Giri +3 more
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A Novel Synonymous Variant of PHEX in a Patient with X-Linked Hypophosphatemia
Calcified Tissue International, 2022X-linked dominant hypophosphatemia (XLH), the most common form of hereditary hypophosphatemic rickets/osteomalacia, is caused by loss-of-function phosphate-regulating endopeptidase homolog X-linked gene (PHEX) variants. However, synonymous PHEX variants are rare in XLH.
Xiaosen Ma +7 more
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