Identification of a novel ATR-X mutation causative of acquired α-thalassemia in a myelofibrosis patient DOI Creative Commons
Rosa Catapano, Filippo Russo, Marco Rosetti

et al.

Egyptian Journal of Medical Human Genetics, Journal Year: 2024, Volume and Issue: 25(1)

Published: Feb. 28, 2024

Language: Английский

LncRNAs Ride the Storm of Epigenetic Marks DOI Open Access
Giulia Gaggi,

Clinton Hausman,

Soomin Cho

et al.

Genes, Journal Year: 2025, Volume and Issue: 16(3), P. 313 - 313

Published: March 6, 2025

Advancements in genome sequencing technologies have uncovered the multifaceted roles of long non-coding RNAs (lncRNAs) human cells. Recent discoveries identified lncRNAs as major players gene regulatory pathways, highlighting their pivotal role cell growth and development. Their dysregulation is implicated onset genetic disorders age-related diseases, including cancer. Specifically, they been found to orchestrate molecular mechanisms impacting epigenetics, DNA methylation hydroxymethylation, histone modifications, chromatin remodeling, thereby significantly influencing expression. This review provides an overview current knowledge on lncRNA-mediated epigenetic regulation expression, emphasizing biomedical implications development different types cancers diseases.

Language: Английский

Citations

0

The Involvement of CSRP1 in Neuroblastoma Differentiation and Apoptosis Impacting Tumor‐Suppressive Therapeutic Responses DOI Creative Commons
Yu‐Han Lin, Jyun‐Hong Jiang, Hui‐Ching Chuang

et al.

The FASEB Journal, Journal Year: 2025, Volume and Issue: 39(7)

Published: April 8, 2025

ABSTRACT Neuroblastoma (NB) is a pediatric malignancy from the neural crest, where differentiation plays key role in prognosis. We investigated cysteine and glycine‐rich protein 1 (CSRP1) as therapeutic target for NB, it has been linked to carcinogenesis various cancers. Immunohistochemical analysis of archived NB samples showed significant correlation between CSRP1 expression differentiation. Ectopic MYCN ‐amplified BE(2)‐M17 cells increased sensitivity cisplatin, promoted neurite extension, enhanced differentiation, apoptosis, chemosensitivity 13cisRA. Synergistic apoptotic effects were observed with 5‐aza‐2′‐deoxycytidine (DAC) Poly(I:C) treatments SK‐N‐AS implanted xenografts, upregulation CSRP1, innate immune receptor RIG‐I, caspase‐9 activation. was significantly higher mitochondrial DNA‐depleted ρ 0 cells, compared parent cells. Cisplatin further but not Simultaneous caspase‐8 found both cell types, only suggesting that intrinsic extrinsic apoptosis pathways are involved function depending on existence DNA. These findings indicate determination possibly immunity which endows potential enhance 13cisRA, DAC, combination therapies NB.

Language: Английский

Citations

0

From pathology to therapy: A comprehensive review of ATRX mutation related molecular functions and disorders DOI

Fan Xu,

Daohan Yu,

Jiazheng Guo

et al.

Mutation Research/Reviews in Mutation Research, Journal Year: 2025, Volume and Issue: 795, P. 108537 - 108537

Published: Jan. 1, 2025

Language: Английский

Citations

0

Porphyromonas gingivalis outer membrane vesicles augments proliferation and metastasis of oral squamous cell carcinoma cells DOI Creative Commons

Yanru Zeng,

Yiyang Wang, Xiaona Shi

et al.

BMC Oral Health, Journal Year: 2025, Volume and Issue: 25(1)

Published: May 10, 2025

Porphyromonas gingivalis (P. gingivalis) is closely related to Oral squamous cell carcinoma (OSCC), and P. outer membrane vesicles (OMVs) the main pathogenic factor, which associated with periodontitis, atherosclerosis other diseases. However, few studies have reported an association between OMVs OSCC. The purpose of this study was establish clinical relationship OSCC based on samples. Further, effect observed model in vitro, possible molecular mechanism discussed. Immunohistochemistry used detect abundance its paired paracancer tissues, analyze correlation clinicopathological parameters patients. were isolated observe effects proliferation migration lines. RNA-seq performed expression differentially expressed genes (DEGs) detected by real-time quantitative PCR (RT-qPCR) explore potential mechnism progression. higher than that para-cancerous positively correlated degree tissue differentiation (P = 0.028), T stage < 0.001), 0.011). promoted HN6 cells, CAL27 but had no significant migration. treatment attenuated expressions TNFSF15, ZNF292, ATRX, ASPM KIF20B cells. This suggests may be indicator poor prognosis for down-regulate ASPM, participate occurrence development

Language: Английский

Citations

0

Next generation sequencing reveals a high prevalence of pathogenic mutations in homologous recombination DNA damage repair genes among patients with uterine sarcoma DOI Open Access
Dimitrios Nasioudis,

Nawar Latif,

Emily Ko

et al.

Gynecologic Oncology, Journal Year: 2023, Volume and Issue: 177, P. 14 - 19

Published: Aug. 21, 2023

Language: Английский

Citations

7

The SRC-family serves as a therapeutic target in triple negative breast cancer with acquired resistance to chemotherapy DOI Creative Commons
Eivind Valen Egeland, Kotryna Seip, Eleni Skourti

et al.

British Journal of Cancer, Journal Year: 2024, Volume and Issue: 131(10), P. 1656 - 1667

Published: Oct. 10, 2024

Resistance to chemotherapy, combined with heterogeneity among resistant tumors, represents a significant challenge in the clinical management of triple negative breast cancer (TNBC). By dissecting molecular pathways associated treatment resistance, we sought define patient sub-groups and actionable targets for next-line treatment.

Language: Английский

Citations

2

Profound synthetic lethality between SMARCAL1 and FANCM DOI

Sumin Feng,

Kaiwen Liu,

Jinfeng Shang

et al.

Molecular Cell, Journal Year: 2024, Volume and Issue: unknown

Published: Nov. 1, 2024

Language: Английский

Citations

2

TRACERx analysis identifies a role for FAT1 in regulating chromosomal instability and whole-genome doubling via Hippo signalling DOI Creative Commons
Wei-Ting Lu, Lykourgos‐Panagiotis Zalmas, Chris Bailey

et al.

Nature Cell Biology, Journal Year: 2024, Volume and Issue: unknown

Published: Dec. 30, 2024

Language: Английский

Citations

2

Telomeres cooperate with the nuclear envelope to maintain genome stability DOI

Rekha Rai,

Tori Sodeinde,

Ava Boston

et al.

BioEssays, Journal Year: 2023, Volume and Issue: 46(2)

Published: Dec. 4, 2023

Mammalian telomeres have evolved safeguards to prevent their recognition as DNA double-stranded breaks by suppressing the activation of various sensing and repair proteins. We shown that telomere-binding proteins TRF2 RAP1 cooperate from undergoing aberrant homology-directed recombination mediating t-loop protection. Our recent findings also suggest mammalian interact with nuclear envelope maintain chromosome stability. interacts lamins through KU70/KU80, disruption function result in rupture, promoting telomere-telomere form structures termed ultrabright telomeres. In this review, we discuss importance interactions between shelterin components telomere homeostasis genome

Language: Английский

Citations

6

A single-cell atlas of theCulex tarsalismidgut during West Nile virus infection DOI Creative Commons
Emily Fitzmeyer, Taru S. Dutt, Silvain Pinaud

et al.

bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown

Published: July 24, 2024

Abstract The mosquito midgut functions as a key interface between pathogen and vector. However, studies of physiology virus infection dynamics are scarce, in Culex tarsalis – an extremely efficient vector West Nile (WNV) nonexistent. We performed single-cell RNA sequencing on Cx. midguts, defined multiple cell types, determined whether specific types more permissive to WNV infection. identified 20 states comprising 8 distinct consistent with existing descriptions Drosophila Aedes aegypti physiology. Most populations were there higher levels (vRNA) enteroendocrine cells, suggesting enhanced replication this population. In contrast, proliferating intestinal stem cells (ISC) had the lowest vRNA, finding ISC proliferation is involved control. ISCs also found have strong transcriptional response infection; genes ribosome structure biogenesis, translation significantly downregulated WNV-infected populations. Notably, we did not detect significant WNV-infection induced upregulation canonical antiviral immune (e.g., AGO2 , R2D2 etc.) at whole-midgut level. Rather, observed positive correlation gene expression vRNA load individual that within high may trigger responses. Our findings establish atlas, provide insight into by characterizing cell-type enhancement/restriction of, to, Author Summary leading cause mosquito-borne disease N. America. highly competent plays central role transmission maintenance nature. It hypothesized permissibility contributes barrier thus impacts ability pathogens mosquito. Additionally, it postulated most important organ respect determining competence. recent publication full genome, conjunction growing body work demonstrating successful application methodologies insect models made possible for us examine cellular composition midgut, therein, resolution. cell-type-specific differences viral variability efficiency patterns differential associated populations, characterized aspects innate tissue

Language: Английский

Citations

1