Results 101 to 110 of about 585,411 (243)

Integrating Large Language Models for Genetic Variant Classification [PDF]

arXiv
The classification of genetic variants, particularly Variants of Uncertain Significance (VUS), poses a significant challenge in clinical genetics and precision medicine. Large Language Models (LLMs) have emerged as transformative tools in this realm. These models can uncover intricate patterns and predictive insights that traditional methods might miss,
arxiv  

Targeted metabolomics reveals novel diagnostic biomarkers for colorectal cancer

Molecular Oncology, EarlyView.
This study employed targeted metabolomic profiling to identify 302 distinct metabolites present in platelet‐rich plasma (PRP), revealing aberrant metabolic profiles amongst individuals diagnosed with colorectal cancer (CRC). Compared to carcinoembryonic antigen (CEA) and cancer antigen 19‐9 (CA199), our metabolite panel showed improved sensitivity ...
Zuojian Hu, Fenglin Shen, Yang Liu, Ziqing Zhong, Yongling Chen, Zhiyuan Xia, Cuiju Mo, Hongxiu Yu   +7 more
wiley   +1 more source

KMT2A degradation is observed in decitabine‐responsive acute lymphoblastic leukemia cells

Molecular Oncology, EarlyView.
We demonstrate that decitabine (DEC) not only degrades the DNA methyltransferase DNMT1 but also the leukemic driver lysine methyltransferase KMT2A likely due to structural similarity of the DNA‐binding CXXC domains. DEC influences KMT2A downstream processes and synergizes with menin inhibitor revumenib (REV) to decrease leukemic cell proliferation, and
Luisa Brock, Lina Benzien, Sandra Lange, Maja Huehns, Alexandra Runge, Catrin Roolf, Anett Sekora, Gudrun Knuebel, Hugo Murua Escobar, Christian Junghanss, Anna Richter   +10 more
wiley   +1 more source

Polyfunctional CD8+CD226+RUNX2hi effector T cells are diminished in advanced stages of chronic lymphocytic leukemia

Molecular Oncology, EarlyView.
CD226+CD8+ T cells express elevated levels of RUNX2, exhibit higher proliferation capacity, cytokines and cytolytic molecules expression, and migratory capacity. In contrast, CD226−CD8+ T cells display an exhausted phenotype associated with the increased expression of co‐inhibitory receptors and impaired effector functions.
Maryam Rezaeifar, Shima Shahbaz, Anthea C. Peters, Spencer B. Gibson, Shokrollah Elahi   +4 more
wiley   +1 more source

Inhibition of acyl‐CoA synthetase long‐chain isozymes decreases multiple myeloma cell proliferation and causes mitochondrial dysfunction

Molecular Oncology, EarlyView.
Triacsin C inhibition of the acyl‐CoA synthetase long chain (ACSL) family decreases multiple myeloma cell survival, proliferation, mitochondrial respiration, and membrane potential. Made with Biorender.com. Multiple myeloma (MM) is an incurable cancer of plasma cells with a 5‐year survival rate of 59%.
Connor S. Murphy, Heather Fairfield, Victoria E. DeMambro, Samaa Fadel, Carlos A. Gartner, Michelle Karam, Christian Potts, Princess Rodriguez, Ya‐Wei Qiang, Habib Hamidi, Xiangnan Guan, Calvin P. H. Vary, Michaela R. Reagan   +12 more
wiley   +1 more source

TRPM4 contributes to cell death in prostate cancer tumor spheroids, and to extravasation and metastasis in a zebrafish xenograft model system

Molecular Oncology, EarlyView.
Transient receptor potential melastatin‐4 (TRPM4) is overexpressed in prostate cancer (PCa). Knockout of TRPM4 resulted in reduced PCa tumor spheroid size and decreased PCa tumor spheroid outgrowth. In addition, lack of TRPM4 increased cell death in PCa tumor spheroids.
Florian Bochen, Saurav Subedi, Federico La Manna, Sofia Jarrin, Irida Papapostolou, Marianna Kruithof‐de Julio, Christine Peinelt   +6 more
wiley   +1 more source

Unveiling differential gene co-expression networks and its effects on levodopa-induced dyskinesia

iScience
Summary: Levodopa-induced dyskinesia (LID) refers to involuntary motor movements of chronic use of levodopa in Parkinson’s disease (PD) that negatively impact the overall well-being of people with this disease.
Tatiane Piedade de Souza, Gilderlanio Santana de Araújo, Leandro Magalhães, Giovanna C. Cavalcante, Arthur Ribeiro-dos-Santos, Camille Sena-dos-Santos, Caio Santos Silva, Gracivane Lopes Eufraseo, Alana de Freitas Escudeiro, Giordano Bruno Soares-Souza, Bruno Lopes Santos-Lobato, Ândrea Ribeiro-dos-Santos   +11 more
doaj  

Ethical Issues in Contemporary Clinical Genetics

Mayo Clinic Proceedings: Innovations, Quality & Outcomes, 2018
As genetic sequencing capabilities become more powerful and costs decline, the reach of genomics is expanding beyond research laboratories to the wards, outpatient clinics, and, with the marketing of direct-to-consumer testing services, patients’ homes ...
Genna Braverman, MD, Zachary E. Shapiro, JD, MSc, Jonathan A. Bernstein, MD, PhD   +2 more
doaj  

Genetics-Driven Personalized Disease Progression Model [PDF]

arXiv
Modeling disease progression through multiple stages is critical for clinical decision-making for chronic diseases, e.g., cancer, diabetes, chronic kidney diseases, and so on. Existing approaches often model the disease progression as a uniform trajectory pattern at the population level. However, chronic diseases are highly heterogeneous and often have
arxiv  

Cystatin A promotes the antitumor activity of T helper type 1 cells and dendritic cells in murine models of pancreatic cancer

Molecular Oncology, EarlyView.
Pancreatic ductal adenocarcinoma (PDAC) is a disease with very poor prognosis due to therapeutic limitations. We investigated the antitumor effects of cystatin A (CSTA) in PDAC murine models. We are first to confirm that CSTA enhances T helper type 1‐mediated antitumor effects through promotion of dendritic cells and M1 macrophage activity. CSTA can be
Alessandro Nasti, Shingo Inagaki, Tuyen Thuy Bich Ho, Akihiro Seki, Keiko Yoshida, Kosuke Satomura, Yoshio Sakai, Shuichi Kaneko, Taro Yamashita   +8 more
wiley   +1 more source