A self-described “classic nerd,” Tomberg began running some experiments of her own to try “to figure out what makes an intron from the spliceosomes point of view” and “to predict it ...

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Objectives Idiopathic inflammatory myopathies (IIMs) are a group of heterogeneous autoimmune diseases. Intron retention (IR) serves as an important post-transcriptional and translational regulatory ...

Announcing a new article publication for Cardiovascular Innovations and Applications journal. Alternative splicing (AS), a ...

In 1958, Francis Crick's sequence hypothesis finally provided an answer to the question: what is a gene? Why is this definition now considered overly simplistic? Roberts and Sharp also noted that ...

马凡综合征（Marfan syndrome，MFS）是一种典型的遗传性结缔组织疾病，由 FBN1 基因突变引起，呈常染色体显性遗传。MFS 患者不仅有晶状体异常（如 EL），还伴有骨骼畸形（身材高大、四肢及手指脚趾细长）和胸主动脉瘤、主动脉夹层等症状。韦尔 - 马凯萨尼综合征 2 型（Weill–Marchesani syndrome 2，WMS2）同样是由 FBN1 ...

If multiple transcripts share exon-junctions, only one will be displayed ... number of reads assigned to this read class that aligned to the positive strand intronStarts A comma separated character ...

In addition, we detected a T → A substitution in SOD1 intron 1, 108 base pairs upstream of exon 2 (IVS1-108T>A) in both patients and controls. Mean age at onset in patients with a SOD1 mutation was 52 ...

Protein synthesis is vital for life, translating genetic information from DNA to functional proteins through transcription ...