Publications by authors named "F Larcher"

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genetic disease caused by loss of function mutations in the gene coding for collagen VII (C7) due to deficient or absent C7 expression. This disrupts structural and functional skin architecture, leading to blistering, chronic wounds, inflammation, important systemic symptoms affecting the mouth, gastrointestinal tract, cornea, and kidney function, and an increased skin cancer risk. RDEB patients have an extremely poor quality of life and often die at an early age.

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Astronauts in microgravity experience multi-system deconditioning, impacting their inflight efficiency and inducing dysfunctions upon return to Earth gravity. To fill the sex gap of knowledge in the health impact of spaceflights, we simulate microgravity with a 5-day dry immersion in 18 healthy women (ClinicalTrials.gov Identifier: NCT05043974).

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Ornamental perennial plants play a strategic role in reducing green areas' management costs, keeping the ground, sparing water, and avoiding weeds. The aim of this research is to evaluate the growing performances of seven combinations of six different ornamental perennial herbaceous species and their role in weed containment under low-maintenance conditions. The experiment was performed for three years (2019-2021) in an open field.

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Article Synopsis
  • Recessive dystrophic epidermolysis bullosa (RDEB) is a severe skin disease caused by mutations in the type VII collagen gene, leading to fragile skin, blisters, and higher cancer risk.
  • Previous gene editing has corrected the mutation in patients' cells, but direct treatment for skin lesions was still needed.
  • Researchers developed adenoviral vectors for CRISPR-Cas9 to target a common mutation, successfully using a humanized skin mouse model to show restoration of skin integrity and collagen production.
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Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic extracellular matrix disease caused by deficiency in type VII collagen (Col VII). The disease manifests with devastating mucocutaneous fragility leading to progressive fibrosis and metastatic squamous cell carcinomas. Although Col VII abundance is considered the main predictor of symptom course, previous studies have revealed the existence of mutation-independent mechanisms that control disease progression.

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