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A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE).
Orphanet J Rare Dis
January 2025
Department of Human Genetics, Emory University, Atlanta, GA, USA.
Background: Late-onset Pompe disease (LOPD) is an autosomal recessive lysosomal storage disorder that results in severe progressive proximal muscle weakness. Over time, reductions in muscle strength result in respiratory failure and a loss of ambulation. Delayed diagnosis of LOPD deprives patients of treatments that can enhance quality of life and potentially slow disease progression.
View Article and Find Full Text PDFCircCCT2/miR-146a-5p/IRAK1 axis promotes the development of head and neck squamous cell carcinoma.
BMC Cancer
January 2025
Shanxi Key Laboratory of Otorhinolaryngology Head and Neck Cancer, First Hospital of Shanxi Medical University, Taiyuan, 030001, China.
Background: Head and neck squamous cell carcinoma (HNSCC), a highly invasive malignancy with a poor prognosis, is one of the most common cancers globally. Circular RNAs (circRNAs) have become key regulators of human malignancies, but further studies are necessary to fully understand their functions and possible causes in HNSCC.
Methods: CircCCT2 expression levels in HNSCC tissues and cells were measured via qPCR.
Regulatory B cells in parasitic infections: roles and therapeutic potential.
Parasitol Res
January 2025
School of Basic Medicine, Zunyi Medical University, Zunyi, China.
Parasitic infection is a complex process involving interactions among various immune cells. Regulatory B cells (Breg cells), a subset of B lymphocytes with immunosuppressive functions, play a role in modulating immune responses during infection to prevent excessive immune activation. This article reviews the origin, phenotype, and immunoregulatory mechanisms of Breg cells.
View Article and Find Full Text PDFApplication of thrombopoietic agents in cancer therapy-induced thrombocytopenia: A comprehensive review.
Blood Rev
January 2025
State Key Laboratory of Oncogenes and Related Genes, Shanghai Cancer Institute, RenJi Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200032, China; Department of Oncology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200127, China. Electronic address:
Cancer therapy-induced thrombocytopenia (CT-IT) is one of the most common hematological toxicities of anti-cancer therapy, often leading to treatment dose reduced, postponed, or treatment plans altered or even discontinued. Thrombopoietin (TPO) is the only key regulatory factor in platelet production, and TPO receptor is considered an ideal target for the treatment of thrombocytopenia. Thrombopoietic agents, including recombinant human thrombopoietin (rhTPO) and thrombopoietin receptor agonists (TPO-RAs), bind to different regions of the TPO receptor, activating downstream signaling pathways to increase platelet levels.
View Article and Find Full Text PDFA review on evolution, structural characteristics, interactions, and regulation of the membrane transport protein: The family of Rab proteins.
Int J Biol Macromol
January 2025
Department of Chemistry, Indian Institute of Technology (IIT) Delhi, Hauz Khas Campus, New Delhi 110016, India; Department of Bio-Science and Technology, MM Engineering College, Maharishi Markandeshwar (Deemed to be University), Mullana, Ambala, Haryana 133203, India. Electronic address:
Rab proteins are a key family of small GTPases that play crucial roles in vesicular trafficking, membrane dynamics, and maintaining cellular homeostasis. Studying this family of proteins is interesting as having many structural isoforms with variable evolutionary trends and wide distribution in cells. The proteins are renowned for their unique structural characteristics, which support their functional adaptability and specificity.
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