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Two independent families with de novo whole APC gene deletion and intellectual disability: a case report.
Hered Cancer Clin Pract
January 2025
First Department of Medicine, Hamamatsu University School of Medicine, Hamamatsu, 431-3192, Japan.
Background: Familial adenomatous polyposis (FAP) is an autosomal dominant colorectal tumour syndrome characterised by the formation of multiple adenomatous polyps throughout the colon. It is important to understand the extracolonic phenotype that characterizes FAP. Most previous case reports of patients with both FAP and intellectual disability (ID) have described deletions in all or part of chromosome 5q, including the APC locus.
View Article and Find Full Text PDFPostdiagnostic use of antihypertensive medications and survival in colorectal, lung, corpus uteri, melanoma and kidney cancer patients with hypertension.
BMC Cancer
January 2025
Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Background: Arterial hypertension is one of the most frequent comorbidities in patients with cancer. Studies have indicated that drugs used to control hypertension may alter cancer patient survival; however, epidemiological findings for their impact on cancer survival remain inconsistent. The aim of this study was to examine the effect of the consumption of antihypertensive (AH) medication on the risk of death in cancer patients.
View Article and Find Full Text PDFGene signatures derived from transcriptomic-causal networks stratify colorectal cancer patients for effective targeted therapy.
Commun Med (Lond)
January 2025
Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Background: Gene signatures derived from transcriptomic-causal networks offer potential for tailoring clinical care in cancer treatment by identifying predictive and prognostic biomarkers. This study aimed to uncover such signatures in metastatic colorectal cancer (CRC) patients to aid treatment decisions.
Methods: We constructed transcriptomic-causal networks and integrated gene interconnectivity into overall survival (OS) analysis to control for confounding genes.
Artificial metalloenzyme assembly in cellular compartments for enhanced catalysis.
Nat Chem Biol
January 2025
State Key Laboratory of Chemo/Biosensing and Chemometrics and School of Chemistry and Chemical Engineering, Hunan University, Changsha, China.
Artificial metalloenzymes (ArMs) integrated within whole cells have emerged as promising catalysts; however, their sensitivity to metal centers remains a systematic challenge, resulting in diminished activity and turnover. Here we address this issue by inducing in cellulo liquid-liquid phase separation through a self-labeling fusion protein, HaloTag-SNAPTag. This strategy creates membraneless, isolated liquid condensates within Escherichia coli as protective compartments for the assembly of ArMs using the same fusion protein.
View Article and Find Full Text PDFErythema nodosum, malignant melanoma and non-melanoma skin cancer in relation to inflammatory bowel disease: a Mendelian randomization study.
Sci Rep
January 2025
Department of Colorectal Surgery, Jiangsu Province Hospital of Chinese Medicine, The Affiliated Hospital of Nanjing University of Chinese Medicine, Nanjing, 210029, PR China.
Inflammatory bowel disease (IBD) is a multisystem condition that could affect the cutaneous systems, namely cutaneous extraintestinal manifestations (EIMs). It has been suggested that IBD is associated with erythema nodosum (EN), malignant melanoma (MM) and non-melanoma skin cancer (NMSC). However, the potential causal relationship between IBD and the mentioned above cutaneous EIMs is still unclear.
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