The therapeutic landscape for renal cell carcinoma (RCC) has changed drastically over the past several years with the emergence of molecularly targeted therapies. With previous prognostic and predictive tools based on studies of patients treated with cytokine therapies, confirmation of these prior methods and discovery of new markers in this new era of targeted therapy are of great importance. Alteration of the von Hippel-Lindau gene (VHL) by mutation, loss of heterozygosity, and promoter methylation has been found to be important to RCC pathogenesis. In this review, we discuss the potential role of VHL mutation as a prognostic and predictive marker for RCC.
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http://dx.doi.org/10.1007/s11912-009-0015-5 | DOI Listing |
Adv Sci (Weinh)
January 2025
Department of Orthopaedics, The First Affiliated Hospital of Nanjing Medical University, Jiangsu, 210029, China.
Patellar dysplasia (PD) can cause patellar dislocation and subsequent osteoarthritis (OA) development. Herein, a novel ABCA6 mutation contributing to a four-generation family with familiar patellar dysplasia (FPD) is identified. In this study, whole exome sequencing (WES) and genetic linkage analysis across a four-generation lineage presenting with six cases of FPD are conducted.
View Article and Find Full Text PDFAm J Physiol Renal Physiol
January 2025
Division of Nephrology, Program in Membrane Biology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Vasopressin (VP) activates protein kinase A (PKA), resulting in phosphorylation events and membrane accumulation of aquaporin-2 (AQP2). Epidermal growth factor receptor (EGFR) inhibition with erlotinib also induces AQP2 membrane trafficking with a phosphorylation pattern similar to VP, but without increasing PKA activity. Here, we identify the ribosomal s6 kinase (RSK) as a major mediator phosphorylating AQP2 in this novel, erlotinib-induced pathway.
View Article and Find Full Text PDFAdv Sci (Weinh)
January 2025
Discovery Biology, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Pepparedsleden 1, Mölndal, 43150, Sweden.
Targeted delivery of therapeutic agents is a persistent challenge in modern medicine. Recent efforts in this area have highlighted the utility of extracellular vesicles (EVs) as drug carriers, given that they naturally occur in bloodstream and tissues, and can be loaded with a wide range of therapeutic molecules. However, biodistribution and tissue tropism of EVs remain difficult to study systematically.
View Article and Find Full Text PDFEur Clin Respir J
January 2025
Department of Respiratory Medicine, Odense University Hospital, Odense, Denmark.
Background: Birt-Hogg-Dubé syndrome (BHD), a rare genetic disease characterized by multiple pulmonary cysts, can lead to spontaneous pneumothorax, cutaneous hamartomas, renal cysts, and renal cell cancer. The overall aim of this study was to assess clinical characteristics of patients with BHD-emphasizing on trends in pulmonary function patterns.
Methods: By use of data from electronic patient journals, we conducted a retrospective cohort study on clinical characteristics and pulmonary function tests (PFT) from patients with BHD, who were clinically followed-up in a Danish tertiary referral center for rare and interstitial lung diseases.
Am J Transl Res
December 2024
General Practice, Affiliated Hospital of North Sichuan Medical College Nanchong 637000, Sichuan, China.
Objective: To evaluate the efficacy of double filtration plasmapheresis combined with immunosuppressive agents in the treatment of severe lupus nephritis.
Method: A retrospective analysis was conducted on the medical records of 102 cases of severe lupus nephritis treated between January 2021 and December 2022 in the General Practice Department at the Affiliated Hospital of North Sichuan Medical College. Patients who received immunosuppressive agents were included in the control group and those who received additional double filtration plasmapheresis were included in the observation group.
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