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Deciphering the interplay between SETD2 mediated H3K36me3 and RNA N6-methyladenosine in clear cell renal cell carcinoma (ccRCC).
Epigenetics
December 2025
Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.
RNA N6-methyladenosine (m6A) plays diverse roles in RNA metabolism and its deregulation contributes to tumor initiation and progression. Clear cell renal cell carcinoma (ccRCC) is characterized by near ubiquitous loss of followed by mutations in epigenetic regulators , , and . Mutations in , a histone H3 lysine 36 trimethylase (H3K36me3), are associated with reduced survival, greater metastatic propensity, and metabolic reprogramming.
View Article and Find Full Text PDFCould metabolic imaging and artificial intelligence provide a novel path to non-invasive aneuploidy assessments? A certain clinical need.
Reprod Fertil Dev
January 2025
Fertility & Research Centre, Discipline of Women health, School of Clinical Medicine and the Royal Hospital for Women, University of New South Wales, Sydney, NSW, Australia.
Pre-implantation genetic testing for aneuploidy (PGT-A) via embryo biopsy helps in embryo selection by assessing embryo ploidy. However, clinical practice needs to consider the invasive nature of embryo biopsy, potential mosaicism, and inaccurate representation of the entire embryo. This creates a significant clinical need for improved diagnostic practices that do not harm embryos or raise treatment costs.
View Article and Find Full Text PDFGenomic profiling at a single center cracks the code in inborn errors of immunity.
Intern Emerg Med
January 2025
Unit of Internal Medicine and Clinical Oncology "G. Baccelli", Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari Aldo Moro Medical School, Bari, Italy.
Inborn errors of immunity (IEI) entail a diverse group of disorders resulting from hereditary or de novo mutations in single genes, leading to immune dysregulation. This study explores the clinical utility of next-generation sequencing (NGS) techniques in diagnosing monogenic immune defects. Eight patients attending the immunodeficiency clinic and with unclassified antibody deficiency were included in the analysis.
View Article and Find Full Text PDFTTC7A Variants Results in Gastrointestinal Defects and Immunodeficiency Syndrome: Case Series and Literature Review.
Clin Rev Allergy Immunol
January 2025
Department of Neonatal Surgery, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Gastrointestinal Defects and Immunodeficiency Syndrome-1 (GIDID-1), caused by abnormalities in TTC7A, is an autosomal recessive disorder characterized by multiple gastrointestinal malformations and immune deficiencies, often accompanied by inflammatory bowel disease (IBD). This condition typically results in poor treatment outcomes and is usually fatal in early infancy. This paper examined the genetic abnormalities and clinical features of GIDID by analyzing data from three children and one fetus with gastrointestinal dysfunction and immune deficiency associated with TTC7A abnormalities at our hospital, and reviewed reported cases worldwide.
View Article and Find Full Text PDFImproving molecular subtypes and prognosis of pancreatic cancer through multi group analysis and machine learning.
Discov Oncol
January 2025
Department of Laboratory, the Second Hospital of Shanxi Medical University, No. 382, Wuyi Road, Taiyuan, 030001, Shanxi, People's Republic of China.
Background: Pancreatic cancer (PAC) has a complex tumor immune microenvironment, and currently, there is a lack of accurate personalized treatment. Establishing a novel consensus machine learning driven signature (CMLS) that offers a unique predictive model and possible treatment targets for this condition was the goal of this study.
Methods: This study integrated multiple omics data of PAC patients, applied ten clustering techniques and ten machine learning approaches to construct molecular subtypes for PAC, and created a new CMLS.
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