Results 121 to 130 of about 591,252 (334)
Molecular Oncology, EarlyView.Patient‐derived xenografts (PDXs) can be improved by implantation of a humanized niche. We tested different biomaterials and approaches, and demonstrate that the combination of an injectable biomaterial for scaffold creation plus an intravenous route for acute myeloid leukemia (AML) xenotransplantation provide the most convenient and robust approach to
Daniel Busa +13 more
wiley +1 more source
Integrating Large Language Models for Genetic Variant Classification [PDF]
arXivThe 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
A Multi-View Ensemble Classification Model for Clinically Actionable Genetic Mutations [PDF]
arXiv, 2018 This paper presents details of our winning solutions to the task IV of NIPS 2017 Competition Track entitled Classifying Clinically Actionable Genetic Mutations. The machine learning task aims to classify genetic mutations based on text evidence from clinical literature with promising performance. We develop a novel multi-view machine learning framework
arxiv
Abstracts of the meeting of the Clinical Genetics Society held on 5 and 6 April 1984 at Salford University, Manchester [PDF]
, 1984 openalex +1 more source
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 +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 +10 more
wiley +1 more source
Clinical genetics of spondylocostal dysostosis: A mini review. [PDF]
Front Genet, 2022 Umair M +4 more
europepmc +1 more source
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 +4 more
wiley +1 more source
Equity implications of patient-initiated recontact and follow-up in clinical genetics. [PDF]
Eur J Hum Genet, 2023 Mackley MP, Chad L.
europepmc +1 more source