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JOURNAL ARTICLE
Yuen Bun Tam, Kaan Low, Hari Ps, Madhumeeta Chadha, Jessica Burns, Christopher P Wilding, Amani Arthur, Tom W Chen, Khin Thway, Anguraj Sadanandam, Robin L Jones, Paul H Huang
BACKGROUND: Adolescents and young adult (AYA) patients with soft tissue tumours including sarcomas are an underserved group with disparities in treatment outcomes. METHODS: To define the molecular features between AYA and older adult (OA) patients, we analysed the proteomic profiles of a large cohort of soft tissue tumours across 10 histological subtypes (AYA n = 66, OA n = 243), and also analysed publicly available functional genomic data from soft tissue tumour cell lines (AYA n = 5, OA n = 8)...
May 18, 2024: Commun Med (Lond)
#2
JOURNAL ARTICLE
Wei-Min Ho, Chia-Ying Chen, Tai-Wei Chiang, Trees-Juen Chuang
Glioblastoma (GBM) is the most common malignant brain tumor in adults, which remains incurable and often recurs rapidly after initial therapy. While large efforts have been dedicated to uncover genomic/transcriptomic alternations associated with the recurrence of GBMs, the evolutionary trajectories of matched pairs of primary and recurrent (P-R) GBMs remain largely elusive. It remains challenging to identify genes associated with time to relapse (TTR) and construct a stable and effective prognostic model for predicting TTR of primary GBM patients...
May 18, 2024: Acta Neuropathologica Communications
#3
JOURNAL ARTICLE
Hai Yang, Liang Zhao, Dongdong Li, Congcong An, Xiaoyang Fang, Yiwen Chen, Jingping Liu, Ting Xiao, Zhe Wang
We present an innovative strategy for integrating whole-genome-wide multi-omics data, which facilitates adaptive amalgamation by leveraging hidden layer features derived from high-dimensional omics data through a multi-task encoder. Empirical evaluations on eight benchmark cancer datasets substantiated that our proposed framework outstripped the comparative algorithms in cancer subtyping, delivering superior subtyping outcomes. Building upon these subtyping results, we establish a robust pipeline for identifying whole-genome-wide biomarkers, unearthing 195 significant biomarkers...
May 14, 2024: Cell Rep Methods
#4
JOURNAL ARTICLE
Azra Ajkunic, Erolcan Sayar, Martine P Roudier, Radhika A Patel, Ilsa M Coleman, Navonil De Sarkar, Brian Hanratty, Mohamed Adil, Jimmy Zhao, Samir Zaidi, Lawrence D True, Jamie M Sperger, Heather H Cheng, Evan Y Yu, Robert B Montgomery, Jessica E Hawley, Gavin Ha, Thomas Persse, Patricia Galipeau, John K Lee, Stephanie A Harmon, Eva Corey, Joshua M Lang, Charles L Sawyers, Colm Morrissey, Michael T Schweizer, Roman Gulati, Peter S Nelson, Michael C Haffner
Therapeutic approaches targeting proteins on the surface of cancer cells have emerged as an important strategy for precision oncology. To capitalize on the potential impact of drugs targeting surface proteins, detailed knowledge about the expression patterns of the target proteins in tumor tissues is required. In castration-resistant prostate cancer (CRPC), agents targeting prostate-specific membrane antigen (PSMA) have demonstrated clinical activity. However, PSMA expression is lost in a significant number of CRPC tumors...
May 17, 2024: NPJ Precision Oncology
#5
JOURNAL ARTICLE
Miseon Lee, Tae-Kyung Yoo, Byung Joo Chae, Ahwon Lee, Yoon Jin Cha, Jieun Lee, Sung Gwe Ahn, Jun Kang
In our previous study, we developed a triple-negative breast cancer (TNBC) subtype classification that correlated with the TNBC molecular subclassification. In this study, we aimed to evaluate the predictor variables of this subtype classification on the whole slide and to validate the model's performance by using an external test set. We explored the characteristics of this subtype classification and investigated genomic alterations, including genomic scar signature scores. First, TNBC was classified into the luminal androgen receptor (LAR) and non-luminal androgen receptor (non-LAR) subtypes based on the AR Allred score (≥ 6 and < 6, respectively)...
May 17, 2024: Scientific Reports
#6
JOURNAL ARTICLE
Yalan Cui, Yan Zhang, Songsong Dai, Sha Wan, Heng Guan, Decai Wang, Beifang Jin, Wenping Xiao, Liu Fang
Hyperthyroidism is becoming increasingly important as an independent risk factor for cardiovascular disease, eventually resulting in cardiac hypertrophy and heart failure. The 14-3-3 protein family subtypes regulate many cellular processes in eukaryotes by interacting with a diverse array of client proteins. Considering that the 14-3-3η protein protects cardiomyocytes by affecting mitochondrial function, exploring the biological influence and molecular mechanisms by which 14-3-3η alleviates the cardiac hypertrophy of hyperthyroidism is imperative...
May 15, 2024: Molecular and Cellular Endocrinology
#7
JOURNAL ARTICLE
Jingxian Li, Zheng Kong, Yuanjiong Qi, Wei Wang, Qiang Su, Wei Huang, Zhihong Zhang, Shuai Li, E Du
BACKGROUND: Cancer-associated fibroblasts (CAFs) are found in primary and advanced tumours. They are primarily involved in tumour progression through complex mechanisms with other types of cells in the tumour microenvironment. However, essential fibroblasts-related genes (FRG) in bladder cancer still need to be explored, and there is a shortage of an ideal predictive model or molecular subtype for the progression and immune therapeutic assessment for bladder cancer, especially muscular-invasive bladder cancer based on the FRG...
May 17, 2024: International Journal of Surgery
#8
JOURNAL ARTICLE
Hengkang Liu, Jiawen Gao, Mei Feng, Jinghui Cheng, Yuchen Tang, Qi Cao, Ziji Zhao, Ziqiao Meng, Jiarui Zhang, Guohong Zhang, Chong Zhang, Mingming Zhao, Yicen Yan, Yang Wang, Ruidong Xue, Ning Zhang, Hang Li
In acral melanoma (AM), progression from in situ (AMis) to invasive AM (iAM) leads to significantly reduced survival. However, evolutionary dynamics during this process remain elusive. Here, we report integrative molecular and spatial characterization of 147 AMs using genomics, bulk and single-cell transcriptomics, and spatial transcriptomics and proteomics. Vertical invasion from AMis to iAM displays an early and monoclonal seeding pattern. The subsequent regional expansion of iAM exhibits two distinct patterns, clonal expansion and subclonal diversification...
May 9, 2024: Cancer Cell
#9
JOURNAL ARTICLE
Xiaoli Feng, Yihui Zheng, Niping Mao, Ming Shen, Liuxi Chu, Yu Fang, Mengdan Pang, Zhouguang Wang, Zhenlang Lin
BACKGROUND: Hypoxic-ischemic encephalopathy (HIE) is a major contributor to neonatal mortality and neurodevelopmental disorders, but currently there is no effective therapy drug for HIE. Mitochondrial dysfunction plays a pivotal role in hypoxic-ischemic brain damage(HIBD). Menaquinone-4 (MK-4), a subtype of vitamin K2 prevalent in the brain, has been shown to enhance mitochondrial function and exhibit protective effects against ischemia-reperfusion injury. However, the impact and underlying molecular mechanism of MK-4 in HIE have not been fully elucidated...
May 16, 2024: International Immunopharmacology
#10
JOURNAL ARTICLE
Jake R Conway, Riaz Gillani, Jett Crowdis, Brendan Reardon, Jihye Park, Seung Hun Han, Breanna M Titchen, Mouadh Benamar, Rizwan Haq, Eliezer M Van Allen
The diversity of structural variants (SVs) in melanoma and how they impact oncogenesis are incompletely known. We performed harmonized analysis of SVs across melanoma histological and genomic subtypes, and we identified distinct global properties between subtypes. These included the frequency and size of SVs and SV classes, their relation to chromothripsis events, and the role of topologically associated domain (TAD) boundary altering SVs on cancer-related genes. Following our prior identification of double-stranded break repair deficiency in a subset of triple wild-type cutaneous melanoma, we identified MRE11 and NBN loss-of-function SVs in melanomas with this mutational signature...
May 14, 2024: Journal of Clinical Investigation
#11
JOURNAL ARTICLE
Maria K Jauhiainen, Ushanandini Mohanraj, Maria F Perdomo, Jaana Hagström, Caj Haglund, Antti A Mäkitie, Maria Söderlund-Venermo, Saku T Sinkkonen
PURPOSE: Sinonasal lymphoma (SL) is a rare lymphatic neoplasm of the nasal cavities, paranasal sinuses and nasopharynx. Whereas some risk factors for SL subtypes have been identified, their aetiology is unknown. Along with other predisposing factors, the viral association of lymphomas, such as Epstein-Barr virus (EBV) and Burkitt and Hodgkin lymphomas, is well-established. Modern molecular biology techniques have enabled the discovery of novel human viruses, exemplified by the protoparvovirus cutavirus (CuV), associated with cutaneous T-cell lymphoma...
May 17, 2024: European Archives of Oto-rhino-laryngology
#12
JOURNAL ARTICLE
Stefano Confalonieri, Bronislava Matoskova, Rosa Pennisi, Flavia Martino, Agnese De Mario, Giorgia Miloro, Francesca Montani, Luca Rotta, Mahila Esmeralda Ferrari, Laura Gilardi, Francesco Ceci, Chiara Maria Grana, Rosario Rizzuto, Cristina Mammucari, Pier Paolo Di Fiore, Letizia Lanzetti
Metabolic alterations in cancers can be exploited for diagnostic, prognostic, and therapeutic purposes. This is exemplified by 18F-fluorodeoxyglucose (FDG)-positron emission tomography (FDG-PET), an imaging tool that relies on enhanced glucose uptake by tumors for diagnosis and staging. By performing transcriptomic analysis of breast cancer (BC) samples from patients stratified by FDG-PET, a 54-gene signature (PETsign) is identified that recapitulates FDG uptake. PETsign is independently prognostic of clinical outcome in luminal BCs, the most common and heterogeneous BC molecular subtype, which requires improved stratification criteria to guide therapeutic decision-making...
May 17, 2024: Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
#13
JOURNAL ARTICLE
Xingguang Li, Sana Tamim, Nídia S Trovão
Introduction. Human immunodeficiency virus (HIV)-1 subtype C is the most prevalent globally and is thought to have originated in non-human primates in the Democratic Republic of Congo. Hypothesis/Gap Statement. Although the global dominance of HIV-1 subtype C is well established, a thorough understanding of its evolutionary history and transmission dynamics across various risk populations remains elusive. The current knowledge is insufficient to fully capture the global diversification and dissemination of this subtype...
May 2024: Journal of Medical Microbiology
#14
JOURNAL ARTICLE
Yifan Zeng, Shuwen Jiang, Zhuoqi Lou, Lin Chen, Yongtao Zhang, Liya Pan, Qingmiao Shi, Bing Ruan
BACKGROUND: Vasculogenic mimicry, a novel neovascularization pattern of aggressive tumors, is associated with poor clinical outcomes. OBJECTIVE: The aim of this research was to establish a new model, termed VC score, to predict the prognosis, Tumor Microenvironment (TME) components, and immunotherapeutic response in Hepatocellular Carcinoma (HCC). METHODS: The expression data of the public databases were used to develop the prognostic model...
May 16, 2024: Current Medicinal Chemistry
#15
JOURNAL ARTICLE
Yao-Bang Liu, Xu-Tong Gao, Ling-Yan Huang, Xin-Lan Liu
INTRODUCTION: Invasive micropapillary carcinoma (IMPC) treatment only relies on the standard treatment of nonspecific invasive breast cancer (NSIBC), and it remains controversial whether the survival of patients improves. Therefore, this study aimed to analyze the clinicopathological features of IMPC and to investigate the factors affecting its prognosis. MATERIAL AND METHODS: This retrospective cohort study included 104 IMPC patients who met the study's inclusion criteria out of a total of 4,532 patients with invasive breast cancer between January 2015 and December 2019...
2024: Archives of Medical Science: AMS
#16
Sonia Gowda, Lyndsey Sandow, Michael C Heinrich
BACKGROUND: Gastrointestinal stromal tumor (GIST) is a rare mesenchymal tumor arising in the gut, most commonly stomach or small bowel. The most common driver mutations are KIT and PDGFRA which can be treated with imatinib or avapritinib (for PDGFRA D842V-mutant GIST), respectively. BRAF V600E mutant GISTs are rare and these do not respond to imatinib. Multiple clinical trials have shown antitumor effects with dabrafenib in BRAF-mutant melanoma and a few case reports have demonstrated treatment of BRAF V600E mutant GIST with a BRAF kinase inhibitor...
April 30, 2024: Journal of Gastrointestinal Oncology
#17
JOURNAL ARTICLE
Eleonora Manzoni, Sara Carli, Pauline Gaignard, Lea Dewi Schlieben, Michio Hirano, Dario Ronchi, Emmanuel Gonzales, Masaru Shimura, Kei Murayama, Yasushi Okazaki, Ivo Barić, Danijela Petkovic Ramadza, Daniela Karall, Johannes Mayr, Diego Martinelli, Chiara La Morgia, Guido Primiano, René Santer, Serenella Servidei, Céline Bris, Aline Cano, Francesca Furlan, Serena Gasperini, Nolwenn Laborde, Costanza Lamperti, Dominic Lenz, Michelangelo Mancuso, Vincenzo Montano, Francesca Menni, Olimpia Musumeci, Victoria Nesbitt, Elena Procopio, Cécile Rouzier, Christian Staufner, Jan-Willem Taanman, Galit Tal, Chiara Ticci, Duccio Maria Cordelli, Valerio Carelli, Vincent Procaccio, Holger Prokisch, Caterina Garone
Autosomal recessive pathogenetic variants in the DGUOK gene cause deficiency of deoxyguanosine kinase activity and mitochondrial deoxynucleotides pool imbalance, consequently, leading to quantitative and/or qualitative impairment of mitochondrial DNA synthesis. Typically, patients present early-onset liver failure with or without neurological involvement and a clinical course rapidly progressing to death. This is an international multicentre study aiming to provide a retrospective natural history of deoxyguanosine kinase deficient patients...
2024: Brain communications
#18
JOURNAL ARTICLE
Zaifu Zhu, Wei Zhang, Shaohu Huo, Tiantuo Huang, Xi Cao, Ying Zhang
PURPOSE: TUBB can encode a beta-tubulin protein. At present, the role of TUBB has not been ascertained in cancers. Hence, the importance of further systematic pan-cancer analyses is stressed to explore its value in the diagnosis, prognosis, and immune function of cancers. METHODS: By collecting and handling integrative data from the TCGA, Firehose, UCSC Xena, cBioPortal, GEO, CPTAC, TIMER2.0, TISCH, CellMiner, GDSC, and CTRP databases, we explored the potential diagnostic and prognostic roles of TUBB in pan-cancers from multiple angles...
2024: Frontiers in Molecular Biosciences
#19
JOURNAL ARTICLE
Qianming Zhao, Meng Qi, Bo Jing, Fuchun Jian, Pihong Gong, Chenyang Lu, Yaqun Yan, Zhiyang Pei, Changshen Ning
Cryptosporidium spp. are significant zoonotic intestinal parasites that induce diarrhea and even death across most vertebrates, including humans. Previous studies showed that sheep are important hosts for Cryptosporidium and that its distribution in sheep is influenced by geography, feeding patterns, age, and season. Environmental factors also influence the transmission of Cryptosporidium. Molecular studies of Cryptosporidium in sheep have been conducted in only a few regions of China, and studies into the effect of sheep-housing environments on Cryptosporidium transmission are even rarer...
May 16, 2024: Scientific Reports
#20
JOURNAL ARTICLE
Bela Szabo
Presynaptic α2 -adrenoceptors are localized on axon terminals of many noradrenergic and non-noradrenergic neurons in the peripheral and central nervous systems. Their activation by exogenous agonists leads to inhibition of the exocytotic release of noradrenaline and other transmitters from the neurons. Most often, the α2A -receptor subtype is involved in this inhibition. The chain of molecular events between receptor occupation and inhibition of the exocytotic release of transmitters has been determined...
May 17, 2024: Handbook of Experimental Pharmacology
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