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Copy Number Variation in Asthma: An Integrative Review.
Clin Rev Allergy Immunol
January 2025
Postgraduate Program in Biochemistry, Federal University of Espírito Santo (UFES), Vitória, Espírito Santo, Brazil.
Asthma is a complex disease with varied clinical manifestations resulting from the interaction between environmental and genetic factors. While chronic airway inflammation and hyperresponsiveness are central features, the etiology of asthma is multifaceted, leading to a diversity of phenotypes and endotypes. Although most research into the genetics of asthma focused on the analysis of single nucleotide polymorphisms (SNPs), studies highlight the importance of structural variations, such as copy number variations (CNVs), in the inheritance of complex characteristics, but their role has not yet been fully elucidated in asthma.
View Article and Find Full Text PDFImpact of hypertension on changes in peripapillary retinal nerve fiber layer thickness in type 2 diabetes patients.
Sci Rep
January 2025
Department of Ophthalmology, Konyang University College of Medicine, Daejeon, Republic of Korea.
To determine longitudinal changes in the peripapillary retinal nerve fiber layer (pRNFL) thickness in type 2 diabetes mellitus (T2DM) patients with hypertension (HTN). Participants were divided into three groups: normal controls (Group 1), patients with T2DM (Group 2), and patients with both T2DM and HTN (Group 3). Following the initial examination, patients underwent three additional examinations at 1-year intervals.
View Article and Find Full Text PDFMetabolic reprogramming induced by PSMA4 overexpression facilitates bortezomib resistance in multiple myeloma.
Ann Hematol
January 2025
Department of Hematology, Navy Medical Center of PLA, Naval Medical University, No. 338 West Huaihai Road, Changning District, Shanghai, 200052, China.
Multiple myeloma(MM) remains incurable with high relapse and chemoresistance rates. Differentially expressed genes(DEGs) between newly diagnosed myeloma and secondary plasma cell leukemia(sPCL) were subjected to a weighted gene co-expression network analysis(WGCNA). Drug resistant myeloma cell lines were established.
View Article and Find Full Text PDFDifferential regulatory effects of the N-terminal region in SYK-fusion kinases reveal unique activation-inducible nuclear translocation of ITK-SYK.
Sci Rep
January 2025
Department of Laboratory Medicine, Karolinska Institutet, ANA Futura, Alfred Nobels Allé 8, Floor 8, 14152, Huddinge, Sweden.
ITK-SYK and TEL-SYK (also known as ETV6-SYK) are human tumor-causing chimeric proteins containing the kinase region of SYK, and the membrane-targeting, N-terminal, PH-TH domain-doublet of ITK or the dimerizing SAM-PNT domain of TEL, respectively. ITK-SYK causes peripheral T cell lymphoma, while TEL-SYK was reported in myelodysplastic syndrome. BTK is a kinase highly related to ITK and to further delineate the role of the N-terminus, we generated the corresponding fusion-kinase BTK-SYK.
View Article and Find Full Text PDFCardiorespiratory fitness, cardiac morphology and function, and cardiovascular risk factors in long-term breast cancer survivors compared with non-cancer controls.
Cardiooncology
January 2025
ProCardio Center for Innovation, Department of Cardiology, Oslo University Hospital, Oslo, Norway.
Background: Although anthracycline-related cardiotoxicity is widely studied, only a limited number of echocardiographic studies have assessed cardiac function in breast cancer survivors (BCSs) beyond ten years from anthracycline treatment, and the knowledge of long-term cardiorespiratory fitness (CRF) in this population is scarce. This study aimed to compare CRF assessed as peak oxygen uptake (V̇O), cardiac morphology and function, and cardiovascular (CV) risk factors between long-term BCSs treated with anthracyclines and controls with no history of cancer.
Methods: The CAUSE (Cardiovascular Survivors Exercise) trial included 140 BCSs recruited through the Cancer Registry of Norway, who were diagnosed with breast cancer stage II to III between 2008 and 2012 and had received treatment with epirubicin, and 69 similarly aged activity level-matched controls.
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