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Tenascin-X deficiency causing classical-like Ehlers Danlos syndrome type 1 in humans is a significant risk factor for GI and tracheal ruptures.
Clin Transl Gastroenterol
January 2025
Department of Clinical Genetics, Erasmus MC, University Medical Centre, Rotterdam, The Netherlands.
Background: Classical-like Ehlers Danlos Syndrome type 1 (clEDS1) is a very rare form of Ehlers Danlos Syndrome (EDS) caused by tenascin-X (TNX) deficiency, with only 56 individuals reported. TNX is an extracellular matrix protein needed for collagen stability. Previous publications propose that individuals with clEDS1 might be at risk for gastrointestinal (GI) tract perforations and/or tracheal ruptures.
View Article and Find Full Text PDFFrom ductal carcinoma in situ to invasive breast cancer: the prognostic value of the extracellular microenvironment.
J Exp Clin Cancer Res
December 2024
Department of Pharmacology and Immunology, Medical University of South Carolina, Charleston, SC, USA.
Ductal carcinoma in situ (DCIS) is a noninvasive breast disease that variably progresses to invasive breast cancer (IBC). Given the unpredictability of this progression, most DCIS patients are aggressively managed similar to IBC patients. Undoubtedly, this treatment paradigm places many DCIS patients at risk of overtreatment and its significant consequences.
View Article and Find Full Text PDFPulmonary veno-occlusive disease (PVOD) is a lethal variant of pulmonary hypertension. The degree of pulmonary arterial involvement varies. Here, we compare two PVOD patients who were transplanted at 8 years of age, whereof one is a homozygous mutation carrier.
View Article and Find Full Text PDFGlioma actively orchestrate a self-advantageous extracellular matrix to promote recurrence and progression.
BMC Cancer
August 2024
Department of Neurosurgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.
The intricate interplay between cancer cells and their surrounding microenvironment has emerged as a critical factor driving the aggressive progression of various malignancies, including gliomas. Among the various components of this dynamic microenvironment, the extracellular matrix (ECM) holds particular significance. Gliomas, intrinsic brain tumors that originate from neuroglial progenitor cells, have the remarkable ability to actively reform the ECM, reshaping the structural and biochemical landscape to their advantage.
View Article and Find Full Text PDFThe Role of Tenascin-C in the Physiopathology of Familial Mediterranean Fever.
Cureus
July 2024
Biochemistry, Ondokuz Mayıs University Faculty of Medicine, Samsun, TUR.
Objective: Familial Mediterranean fever (FMF) is an autoinflammatory disease common in the Mediterranean basin. It has been determined that tenascin-C level is increased in rheumatic inflammatory diseases such as rheumatoid arthritis (RA), systemic lupus erythematosus, and systemic sclerosis. However, the role of tenascin-C has not been investigated in FMF.
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