A5021287077- Neurofibromatosis and Schwannoma Cases
- Sarcoma Diagnosis and Treatment
- Soft tissue tumor case studies
- Neuroblastoma Research and Treatments
- Physiological and biochemical adaptations
- Mitochondrial Function and Pathology
- Hippo pathway signaling and YAP/TAZ
- Aquaculture Nutrition and Growth
Institut Cochin
2023-2024
Université Paris Cité
2023-2024
Inserm
2023-2024
Centre National de la Recherche Scientifique
2023-2024
Neurofibromatosis type 1 (NF1) is characterized by the highly variable and unpredictable development of benign peripheral nerve sheath tumours: cutaneous (cNFs), subcutaneous (scNFs) plexiform (pNFs) neurofibromas.
Neurofibromatosis type 1 (NF1) is a genetic disorder caused by loss-of-function variants in the tumor-suppressor NF1. About 4-11% of NF1 patients have locus complete deletion resulting from non-allelic homologous recombination between low copy repeats. Co-deleted genes probably account for more severe phenotype observed NF1-deleted patients. This genotype-phenotype correlation highlights need detailed molecular description. We designed digital droplet PCR (ddPCR) set along to delimitate...
Abstract About 5–10% of neurofibromatosis type 1 (NF1) patients exhibit large genomic germline deletions that remove the NF1 gene and its flanking regions. The most frequent deletion is 1.4 Mb, resulting from homologous recombination between two low copy repeats. This “type-1” associated with a severe clinical phenotype in patients, several phenotypic manifestations including learning disability, much earlier development cutaneous neurofibromas, an increased tumour risk, cardiovascular...
<title>Abstract</title> Background The Seahorse XF Analyzer developed by Agilent has revolutionized measurement of the oxidative metabolism cells. Most these measurements use Cell Mito Stress Test, which estimates, among other parameters, maximal cellular oxygen consumption rate (OCRmax) after respiration is stimulated with an uncoupler. This method drawback, however, that OCRmax made full inhibition ATP production mitochondrial phosphorylation (OXPHOS). Moreover, within this protocol only...