Publications by authors named "Marion Reocreux"
Article Synopsis
- * In a review of 237 patients, 16.8% were identified with disease-associated variants (DAV) of TERT/TERC, showing similar prevalence in those with familial versus non-familial forms of the disease.
- * Factors like young age and specific blood characteristics were linked to the presence of these mutations, which also resulted in lower transplant-free survival rates (4.2 years vs. 7.2 years) for affected patients.
Pulmonary fibrosis is a fatal disease with progressive loss of respiratory function. Defective telomere maintenance leading to telomere shortening is a cause of pulmonary fibrosis, as mutations in the telomerase component genes TERT (reverse transcriptase) and TERC (RNA component) are found in 15% of familial pulmonary fibrosis (FPF) cases. However, so far, about 85% of FPF remain genetically uncharacterised.
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