IA explicável aplicada para identificar genes influentes na classificação do câncer por meio de dados de expressão gênica de RNA-Seq DOI Open Access
Karolayne Azevedo,

Luísa Souza,

Matheus Dalmolin

et al.

Published: Dec. 31, 2023

Este artigo faz uso de três técnicas aprendizagem máquina (Machine Learnig – ML) para classificar os cinco tipos câncer mais recorrentes em mulheres, a partir dados expressão gênica RNA-Seq. Os desafios incluem: alta dimensionalidade do conjunto e falta transparência dos modelos ML. Para mitigar esses problemas, foi utilizado técnica SHAP (SHapley Additive exPlanations) que uma inteligência artificial explicável (Explainable intelligence XAI) utilizada compreender como tomam decisões podendo ser usada estratégia seleção recursos. Como entrada, foram utilizadas 2.105 amostras, sendo 421 amostras referentes cada tumor, processadas pelos Arvore Decisão (Decision Tree- DT), Floresta Aleatoria (Random Forest-RF) Aumento Gradiente Extremo (eXtreme Gradient Boosting-XGB) treinadas validadas por meio da validação cruzada. RF, DT XGB alcançaram precisões 99, 40%, 97, 60% 34%. Posteriormente, obter lista recursos visando quais características influenciaram nas tomadas consequentemente, nos resultados predição tumores. 122, 90 11 genes obtidos DT, totalizando 223 resultando 194 únicos.

METTL3 regulates thyroid cancer differentiation and chemosensitivity by modulating PAX8 DOI Creative Commons
Kang Ning,

Zewei Zhao,

Zhongyu Wang

et al.

International Journal of Biological Sciences, Journal Year: 2024, Volume and Issue: 20(9), P. 3426 - 3441

Published: Jan. 1, 2024

Background: Thyroid cancer (TC) is a common endocrine with favourable prognosis.However, poor patient prognosis due to TC dedifferentiation becoming an urgent challenge.Recently, methyltransferase-like 3 (METTL3)-mediated N 6 -methyladenosine (m A) modification has been demonstrated play important role in the occurrence and progression of various cancers tumour suppressor TC.However, mechanism METTL3 remains unclear.Methods: The correlation between patients was evaluated by immunohistochemistry. Mettl3 fl/fl Braf V600E TPO-cre mouse models RNA-seq were used investigate underlying molecular mechanism, which further validated vitro experiments.The target gene identified, complete m A process described.The phenomenon low expression explained identifying miRNAs that regulate METTL3.Results: We observed negatively associated TC.Mechanistically, silencing promoted papillary thyroid carcinoma (PTC) both vivo vitro.Moreover, overexpressing sensitivity PTC anaplastic (ATC) cells chemotherapeutic drugs iodine-131 ( 131 I) administration.Overall, METTL3/PAX8/YTHDC1 axis revealed pivotal repressing occurrence, antagonized miR-493-5p.

Language: Английский

Citations

6
Development of LncRNA Biomarkers in Extracellular Vesicle of Amniotic Fluid Associated with Antenatal Hydronephrosis DOI Creative Commons
Ying Fu,

Qiaoshu Liu,

Ruojin Yao

et al.

Biomedicines, Journal Year: 2025, Volume and Issue: 13(3), P. 668 - 668

Published: March 8, 2025

Background: Antenatal hydronephrosis (ANH) is the most common congenital renal and urinary tract anomaly, parenchymal damage fibrosis due to pathological are main causes of end-stage disease in children chronic kidney adults. At present, there no validated biomarker for ANH, diagnostic criteria other than prenatal ultrasonography (US) assessment lacking. Therefore, we assessed determine if biomarkers extracted from amniotic fluid small extracellular vesicles (sEVs) might be used as ANH diagnosis. Methods: With ureteropelvic junction obstruction (UPJO) ultimate diagnosis, 10 pregnant women with Grade III-IV normal were recruited. The sEVs supernatant all samples. Transcriptomic sequencing discovery cohort identified differential expression profiles ANH. known differentially expressed lncRNAs (DE-lncRNAs) by qRT–PCR validation cohort. Results: We explored global RNA fluid. both mRNAs related fetal development. Six DE-lncRNAs three those high verified more In particular, upregulated LINC02863 its target genes associated development morphogenesis. four predicted novel also mesenchymal morphogenesis STAT3 signaling pathway may play roles Conclusions: RNAs species fluid, serve promising

Language: Английский

Citations

0
Excess heme orchestrates progesterone resistance in uterine endometrial cancer through macrophage polarization and the IL-33/PAX8/PGR axis DOI

Jia-Jing Lu,

Yan Ning,

Wenting Hu

et al.

Biomedicine & Pharmacotherapy, Journal Year: 2025, Volume and Issue: 186, P. 118008 - 118008

Published: March 26, 2025

Language: Английский

Citations

0
Thyroid and parathyroid function disorders induced by short-term exposure of microplastics and nanoplastics: Exploration of toxic mechanisms and early warning biomarkers DOI
Jinpeng Zhang, Ling Liu, Xiaowei Dai

et al.

Journal of Hazardous Materials, Journal Year: 2024, Volume and Issue: 476, P. 134960 - 134960

Published: June 18, 2024

Language: Английский

Citations

3
Epigenome and transcriptome changes in KMT2D-related Kabuki syndrome Type 1 iPSCs, neuronal progenitors and cortical neurons DOI Creative Commons
Sara Cuvertino, Evgenii Martirosian, Cheng Peng

et al.

bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2025, Volume and Issue: unknown

Published: Feb. 6, 2025

ABSTRACT Kabuki syndrome type 1 (KS1) is a neurodevelopmental disorder caused by loss-of-function variants in KMT2D which encodes H3K4 methyltransferase. The mechanisms underlying problems KS1 are still largely unknown. Here, we track the epigenome and transcriptome across three stages of neuronal differentiation using patient-derived induced pluripotent stem cells (iPSCs) to gain insights into disease mechanism KS1. In iPSCs detected significantly lower levels functional transcript protein, global H3K4me1 H3K4me2 levels. We identify loss thousands peaks iPSCs, progenitors (NPs) early cortical neurons (CNs) show that number lost increase as progresses. also hundreds differentially expressed genes (DEGs) NPs CNs contrast with epigenomic changes, DEGs decrease Our analysis reveals significant enrichment downregulated areas containing putative enhancer regions loss. set distinct transcription factor binding sites methylated related phenotypes. find regulated SUZ12, subunit Polycomb Repressive complex 2, over-represented at differentiation. conclusion, present disease-relevant human cellular model for provides mechanistic could be used high throughput drug screening

Language: Английский

Citations

0
Current advances in understanding endometrial epithelial cell biology and therapeutic applications for intrauterine adhesion DOI Creative Commons
Jia Wang, Hong Zhan, Y Wang

et al.

Stem Cell Research & Therapy, Journal Year: 2024, Volume and Issue: 15(1)

Published: Oct. 25, 2024

The human endometrium is a highly regenerative tissue capable of undergoing scarless repair during the menstruation and postpartum phases. This process mediated by endometrial adult stem/progenitor cells. During healing injuries, swift reepithelization results in rapid covering wound surface facilitates subsequent restoration. involvement endogenous epithelial stem cells, stromal bone marrow-derived cells regeneration epithelium has been subject prolonged debate. Increasing evidence suggests that mainly relies on rather than Currently, no consensus established identity compartment. Several markers, including stage-specific embryonic antigen-1 (SSEA-1), sex-determining region Y-box 9 (SOX9), neural-cadherin (N-cadherin), leucine-rich-repeat-containing G-protein-coupled receptor 5 (LGR5), CD44, axis inhibition protein 2 (Axin2), aldehyde dehydrogenase 1A1 (ALDH1A1), have suggested as potential candidate markers for identification contributes to our understanding offers new therapeutic insights into diseases characterized defects endometrium, such intrauterine adhesion. review explores different perspectives origins mouse It summarizes locations, hierarchies both endometrium. also discusses cell-based treatments adhesion, hoping inspire further research clinical application

Language: Английский

Citations

2
Zebrafish as an emerging tool for drug discovery and development for thyroid diseases DOI
Poonam Yadav, Lopmudra P. Sarode, Ravinder Reddy Gaddam

et al.

Fish & Shellfish Immunology, Journal Year: 2022, Volume and Issue: 130, P. 53 - 60

Published: Sept. 6, 2022

Language: Английский

Citations

10
In Silico Functional and Structural Analysis of Non-synonymous Single Nucleotide Polymorphisms (nsSNPs) in Human Paired Box 4 Gene DOI
Md. Mostafa Kamal, Md. Numan Islam,

Md. Golam Rabby

et al.

Biochemical Genetics, Journal Year: 2023, Volume and Issue: 62(4), P. 2975 - 2998

Published: Dec. 7, 2023

Language: Английский

Citations

5
Prognostic value of PAX8 in small cell lung cancer DOI Creative Commons

Fengyun Tao,

Hangyan Zhu,

Jiayun Xu

et al.

Heliyon, Journal Year: 2024, Volume and Issue: 10(7), P. e28251 - e28251

Published: March 22, 2024

Small cell lung cancer (SCLC) shows poor prognosis since it metastasizes widely at early stage. Paired box gene (PAX) 8 is a transcriptional factor of PAX family, which the expression in controversial issue, and its prognostic value PAX8 SCLC still unclear.

Language: Английский

Citations

1
The Role of the PAX Genes in Renal Cell Carcinoma DOI Open Access
Lei Li, Sultana Mehbuba Hossain, Michael R. Eccles

et al.

International Journal of Molecular Sciences, Journal Year: 2024, Volume and Issue: 25(12), P. 6730 - 6730

Published: June 19, 2024

Renal cell carcinoma (RCC) is a significant oncological challenge due to its heterogeneous nature and limited treatment options. The PAX developmental gene family encodes nine highly conserved transcription factors that play crucial roles in embryonic development organogenesis, which have been implicated the occurrence of RCC. This review explores molecular landscape RCC, with specific focus on role RCC tumorigenesis disease progression. Of various subtypes, clear renal (ccRCC) most prevalent, characterized by loss von Hippel–Lindau (VHL) tumor suppressor gene. Here, we published literature expression patterns functional implications genes, particularly PAX2 PAX8, three common including ccRCC, papillary (PRCC), chromophobe (ChRCC). Further, interactions potential biological mechanisms involving genes VHL driving pathogenesis key signaling pathways mediated ccRCC associated implicating PAX. Lastly, concurrent our update regarding research comment targeting towards novel therapies.

Language: Английский

Citations

0