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Longitudinal assessment of diffusion-weighted imaging during magnetic resonance-guided radiotherapy in head and neck cancer.
Radiat Oncol
January 2025
German Cancer Consortium (DKTK), partner site Tübingen, and German Cancer Research Center (DKFZ), Heidelberg, Germany.
Background: For radiotherapy of head and neck cancer (HNC) magnetic resonance imaging (MRI) plays a pivotal role due to its high soft tissue contrast. Moreover, it offers the potential to acquire functional information through diffusion weighted imaging (DWI) with the potential to personalize treatment. The aim of this study was to acquire repetitive DWI during the course of online adaptive radiotherapy on an 1.
View Article and Find Full Text PDFA novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.
Hereditas
January 2025
Key Laboratory of Reproductive Health Diseases Research and Translation of Ministry of Education & Key Laboratory of Human Reproductive Medicine and Genetic Research of Hainan Provincie & Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan, 571101, China.
Background: The dynein cytoplasmic two heavy chain 1 (DYNC2H1) gene encodes a cytoplasmic dynein subunit. Cytoplasmic dyneins transport cargo towards the minus end of microtubules and are thus termed the "retrograde" cellular motor. Mutations in DYNC2H1 are the main causative mutations of short rib-thoracic dysplasia syndrome type III with or without polydactyly (SRTD3).
View Article and Find Full Text PDFThe PROPHECI trial: a phase II, double-blind, placebo-controlled, randomized clinical trial for the treatment of pseudoxanthoma elasticum with oral pyrophosphate.
Trials
January 2025
Université Côte d'Azur, CNRS, LP2M, Nice, France.
Background: /aims. Pseudoxanthoma Elasticum (PXE, OMIM 264800) is an autosomal, recessive, metabolic disorder characterized by progressive ectopic calcification in the skin, the vasculature and Bruch's membrane. Variants in the ABCC6 gene are associated with low plasma pyrophosphate (PPi) concentration.
View Article and Find Full Text PDFN7-methylguanosine modification in cancers: from mechanisms to therapeutic potential.
J Hematol Oncol
January 2025
Department of Gynecology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China.
N7-methylguanosine (m7G) is an important RNA modification involved in epigenetic regulation that is commonly observed in both prokaryotic and eukaryotic organisms. Their influence on the synthesis and processing of messenger RNA, ribosomal RNA, and transfer RNA allows m7G modifications to affect diverse cellular, physiological, and pathological processes. m7G modifications are pivotal in human diseases, particularly cancer progression.
View Article and Find Full Text PDFExtracellular matrix stiffness regulates colorectal cancer progression via HSF4.
J Exp Clin Cancer Res
January 2025
Department of General Surgery, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China.
Background: Colorectal cancer (CRC) has high incidence and mortality rates, with severe prognoses during invasion and metastasis stages. Despite advancements in diagnostic and therapeutic technologies, the impact of the tumour microenvironment, particularly extracellular matrix (ECM) stiffness, on CRC progression and metastasis is not fully understood.
Methods: This study included 107 CRC patients.
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