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CFTR mutation is associated with bone differentiation abnormalities in cystic fibrosis.
J Cyst Fibros
January 2025
The Lundquist Institute, Harbor-UCLA Medical Center, Torrance 90502 CA, USA. Electronic address:
Background: Cystic Fibrosis-related Bone Disease is an emerging challenge faced by 50 % of adult people with cystic fibrosis (CF). The multifactorial causes of this comorbidity remain elusive. However, congenital bone defects have been observed in animal models with CFTR mutations, suggesting its importance.
View Article and Find Full Text PDFPD-1 suppresses human CD38 circulating Tfr cells and regulates humoral immunity.
J Immunother Cancer
January 2025
Department of Clinical Laboratory, Fudan University Shanghai Cancer Center, Shanghai, China
Background: Anti-programmed cell death protein 1 (anti-PD-1) antibodies have achieved revolutionary success in cancer therapy. However, the impact of anti-PD-1 therapy on host humoral immunity in humans during cancer immunotherapy requires further investigation.
Methods: We evaluated immunoglobulin titers by ELISA and screened the immune landscape of immune cells from 25 healthy donors and 50 cases including 25 new-onset hepatocellular carcinoma (HCC) patients prior to systemic treatment and 25 HCC patients undergoing anti-PD-1 therapy by multicolor flow cytometry.
A facile assay for zDHHC palmitoyl transferase activation elucidates effects of mutation and modification.
J Lipid Res
January 2025
Laboratory of Molecular Pharmacology, Biosignal Research Center, Kobe University, Kobe, 657-8501, Japan. Electronic address:
At least 10% of proteins constituting the human proteome are subject to S-acylation by a long-chain fatty acid, thioesterified to a Cys thiol side chain. Fatty S-acylation (prototypically, S-palmitoylation) operates across eukaryotic phylogeny and cell type. S-palmitoylation is carried out in mammalian cells by a family of 23-24 dedicated zDHHC palmitoyl transferase enzymes, and mutation of zDHHCs is associated with a number of human pathophysiologies.
View Article and Find Full Text PDFLoss of tumor cell surface hepatocyte growth factor activator inhibitor-1 predicts worse prognosis in esophageal squamous cell carcinoma.
Pathol Res Pract
January 2025
Section of Oncopathology and Morphological Pathology, Department of Pathology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
Hepatocyte growth factor activator inhibitor-1 (HAI-1) is an epithelial type-1 transmembrane protease inhibitor that regulates the pericellular activities of hepatocyte growth factor activator and type-2 transmembrane serine proteases. It is strongly expressed in the stratified squamous epithelium and functions on the cell surface. We previously reported that the cell surface immunoreactivity of HAI-1 was reduced at the invasion front of oral squamous cell carcinoma.
View Article and Find Full Text PDFClinicopathological features and molecular genetic changes of primary renal hemangioblastoma, a TSC-associated tumor.
Pathol Res Pract
January 2025
Department of Orthopaedics, the second Affiliated Hospital of Wannan Medical College, Wuhu 241000, China. Electronic address:
Background: Renal hemangioblastoma (HB) is a rare extra-central nervous system (CNS) tumor, typically not linked to Von Hippel-Lindau (VHL) Syndrome, and its underlying genetic drivers and molecular mechanisms remain elusive. The objective of this study is to investigate the clinicopathological features and molecular genetic changes of primary renal hemangioblastomas.
Methods: Herein, the clinical, imaging, clinicopathological features, and immunophenotype in 3 cases of renal HB were retrospectively analyzed.
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