Case Report: A Synonymous Mutation in NF1 Located at the Non-canonical Splicing Site Leading to Exon 45 Skipping [PDF]
Frontiers in Genetics, 2021 Synonymous mutations are generally considered non-pathogenic because it did not alter the amino acids of the encoded protein. Publications of the associations between synonymous mutations and abnormal splicing have increased recently, however, not much ...
Pengzhen Jin +12 more
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A synonymous mutation in IGF-1 impacts the transcription and translation process of gene expression [PDF]
Molecular Therapy: Nucleic Acids, 2021 Insulin-like growth factor 1 (IGF-1) is considered to be a crucial gene in the animal development of bone and body size. In this study, a unique synonymous mutation (c.258 A > G) of the IGF-1 gene was modified with an adenine base editor to observe the ...
S.Y. Wang +11 more
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A BAP1 synonymous mutation results in exon skipping, loss of function and worse patient prognosis [PDF]
iScience, 2021 Summary: Synonymous mutations are generally disregarded by genomic analyses because they are considered non-pathogenic. We identified and characterized a somatic synonymous mutation in the epigenetic modifier and tumor suppressor BAP1, resulting in exon ...
Jennifer Niersch +6 more
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Clinical and genetic analysis of classical Ehlers‐Danlos syndrome patient caused by synonymous mutation in COL5A2 [PDF]
Molecular Genetics & Genomic Medicine, 2021 Background Classical Ehlers‐Danlos syndrome (cEDS) is a heterogeneous connective tissue disorder that mainly results from the germline mutation of COL5A1 and COL5A2.
Na Ma +10 more
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IGF-1 c.258 A > G synonymous mutation ameliorates senile osteoporosis [PDF]
Communications BiologySenile osteoporosis (SOP) is a multifactorial, age-related progressive phenomenon with a considerable morbidity and mortality. IGF-1 is an important regulator of bone reconstruction and metabolism throughout life.
Zhaoguo Wang +7 more
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Ensemble learning-based predictor for driver synonymous mutation with sequence representation. [PDF]
PLoS Computational BiologySynonymous mutations, once considered neutral, are now understood to have significant implications for a variety of diseases, particularly cancer. It is indispensable to identify these driver synonymous mutations in human cancers, yet current methods are
Chuanmei Bi +6 more
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A synonymous mutation of rs1137070 cause the mice Maoa gene transcription and translation to decrease [PDF]
Frontiers in Molecular NeuroscienceThe Monoamine Oxidase-A (MAOA) EcoRV polymorphism (rs1137070) is a unique synonymous mutation (c.1409 T > C) within the MAOA gene, which plays a crucial role in Maoa gene expression and function.
Kai Xin Li +31 more
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Unveiling of Evolution Pattern for HY12 Enterovirus Quasispecies and Pathogenicity Alteration
Viruses, 2021 Enterovirus, like the majority of RNA viruses, evolves to survive the changeable environments by a variety of strategies. Here, we showed that HY12 virus evolved to alter its characteristics and pathogenicity by employing a non-synonymous mutation ...
Xiaoran Chang +7 more
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BMC Cancer, 2021 Background Synonymous mutations do not change the protein sequences. Automatically, they have been regarded as neutral events and are ignored in the mutation-based cancer studies.
Qun Li +5 more
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Genomic Variation Prediction: A Summary From Different Views
Frontiers in Cell and Developmental Biology, 2021 Structural variations in the genome are closely related to human health and the occurrence and development of various diseases. To understand the mechanisms of diseases, find pathogenic targets, and carry out personalized precision medicine, it is ...
Xiuchun Lin
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