Elsevier eBooks, Journal Year: 2024, Volume and Issue: unknown
Published: Jan. 1, 2024
Language: Английский
Nature Communications, Journal Year: 2025, Volume and Issue: 16(1)
Published: Feb. 11, 2025
Pituitary neuroendocrine tumors (PitNETs) are one of the most common intracranial with diverse clinical manifestations. Current pathological classification systems rely primarily on histological hormone staining and transcription factors (TFs) expression. While effective in identifying three major lineages, molecular characteristics based hormones TFs lack sufficient resolution to fully capture complex tumor heterogeneity. Transcriptional diversity by alternative splicing (AS) offered additional insight address this challenge. Here, we perform bulk full-length single-cell RNA sequencing comprehensively investigate AS dysregulation across all PitNET lineages. We reveal pervasive dysregulations that better depict Additionally, delineate fundamental heterogeneity at resolution, confirming findings refining varying among cell types. Notably, effectively distinguish silent corticotroph subtype define a distinct TPIT lineage subtype, which is associated worse outcomes increased abnormalities driven altered ESRP1 In conclusion, our results characterize specific landscape PitNETs, enhancing understanding PitNETs subtyping. pituitary factors. authors analyze revealing subtypes abnormalities.
Language: Английский
Citations
0
Pathology - Research and Practice, Journal Year: 2025, Volume and Issue: 269, P. 155864 - 155864
Published: March 1, 2025
Language: Английский
Citations
0
The EPMA Journal, Journal Year: 2024, Volume and Issue: 15(2), P. 345 - 373
Published: May 24, 2024
Language: Английский
Citations
2
Translational Cancer Research, Journal Year: 2024, Volume and Issue: 13(4), P. 1606 - 1622
Published: April 1, 2024
RNA-binding motif protein 39 (RBM39) is a well-known involved in tumorigenesis; however, its role hepatocellular carcinoma (HCC) remains unclear. The aim of this study was to investigate the RBM39 HCC.
Language: Английский
Citations
1
Acta Biochimica et Biophysica Sinica, Journal Year: 2024, Volume and Issue: unknown
Published: July 1, 2024
Alternative splicing is a highly intricate process that plays crucial role in post-transcriptional regulation and significantly expands the functional proteome of limited number coding genes eukaryotes. Its multifactorial, with RNA structure exerting significant impact. Aberrant conformations lead to dysregulation patterns, which directly affects manifestation disease symptoms. In this review, molecular mechanisms secondary structure-mediated are summarized, focus on complex interplay between aberrant phenotypes resulted from defects. This study also explores additional factors reshape structural conformations, enriching our understanding mechanistic network underlying regulation. addition, an emphasis has been placed clinical targeting corrections human diseases. The principal action behind phenomenon described, followed by discussion prospective development strategies pertinent challenges.
Language: Английский
Citations
1
Research Square (Research Square), Journal Year: 2024, Volume and Issue: unknown
Published: April 10, 2024
Language: Английский
Citations
0
Cancers, Journal Year: 2024, Volume and Issue: 16(11), P. 2123 - 2123
Published: June 1, 2024
Cancer driver genes are either oncogenes or tumour suppressor that classically activated inactivated, respectively, by mutations. Alternative splicing—which produces various mature mRNAs and, eventually, protein variants from a single gene—may also result in driving neoplastic transformation because of the different and often opposed functions genes. The present review analyses alternative splicing events transformation, with an emphasis on their molecular mechanisms. To do this, we collected list 568 gene drivers cancer revised literature to select those involved other as well which its pre-mRNA is subject splicing, result, both cases, producing oncogenic isoform. Thirty-one fall into first category, includes factors components spliceosome regulators. In second namely comprising isoform, 168 were found. Then, grouped them according mechanisms responsible for yielding isoforms, namely, mutations cis splicing-determining elements, causes involving non-mutated changes factors, epigenetic chromatin-related changes. data given substantiate idea aberrant may regulate activation proto-oncogenes inactivation details more than 40
Language: Английский
Citations
0
Scientific Reports, Journal Year: 2024, Volume and Issue: 14(1)
Published: June 19, 2024
Genome analysis in cancer has focused mainly on elucidating the function and regulatory mechanisms of genes that exhibit differential expression or mutation samples compared to normal samples. Recently, transcriptome revealed abnormal splicing events could contribute pathogenesis. Moreover, variants reportedly generate diverse antigens. Although are expected be potential targets immunotherapy, exploration such their biological significance have not been fully understood. In this study, explore subtype-specific alternative events, we conducted a comprehensive for each breast subtype using large-scale data derived from The Cancer Atlas found patterns. Analyses indicated produce novel immunotherapy against cancer. identified which were by analysis, bring new previously overlooked events.
Language: Английский
Citations
0
bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown
Published: Oct. 18, 2024
Abstract B-cell acute lymphoblastic leukemia (B-ALL) is characterized by the malignant burgeoning of abnormal lymphoblasts. In recent years, use CART therapy which targets CD19 antigen present on surface B-cells, has gained significant attention as a treatment option against aggressive and refractory forms B-ALL. However, loss due to aberrant splicing under pressure been suggested one main factors for emerging resistance. Herein, using RT-PCR based splice assays we examined patterns in 43 primary pediatric B-ALL patient samples spread across various subtypes. We observed that isoform lacking exon 5-6 exists ∼ 55% patients at initial diagnosis stage itself. Using in-silico analysis, identified RNA binding proteins, RC3H1 MBNL1, potential regulators skipping. Furthermore, qRT-PCR analysis revealed MBNL1 are significantly upregulated exhibiting Taken together, first time report existence aberrantly spliced patients, this occurrence could potentially result from dysregulation.
Language: Английский
Citations
0
BMC Genomics, Journal Year: 2024, Volume and Issue: 25(1)
Published: Nov. 11, 2024
Alterations in splicing patterns of leukemic cells have a functional impact and influence most cellular processes since aberrantly spliced isoforms can provide proliferative advantage, enable to evade apoptosis, induce metabolic reprogramming, change cell signaling antitumor immune response, or develop drug resistance. In this Review, we first characterize the general mechanism mRNA processing regulation with focus on role factors, which are commonly mutated blood neoplasms. Next, comprehensive summary current understanding alternative events, confer resistance targeted treatment strategies immunotherapy. We introduce consequences mis-spliced variants (CD19-∆ex2, CD22-∆ex2, CD22-∆ex5-6, CD33-∆ex2, PIK3CD-S, BCR-ABL
Language: Английский
Citations
0