List of projects – Page 35 – Rett syndrome research – projects, results and publications

Multiannual Programme for Research on Rare Diseases (MRAR) (MRAR) 2006 projectﾠRett therapy -Therapeutic approaches of Rett syndrome: development of human cell models and high-throughput screening of chemical molecules in order to identify new subtsances likely to induce readthrough of a stop codon

June 16, 2021June 29, 2015 by Editorial Team

Reference: ANRn.a.6-MRARn.a.003 Abstract: Rett syndrome (RTT) is a neurodevelopmentale dominant X-linked disease affecting almost exclusively girls.ﾠSignificant progress was the discovery of mutations in the MECP2 gene in over 90% of RTT patients.ﾠIn recent years, we have developed a French consortium and determined the spectrum of mutations MECP2.ﾠWe have shown that the four most common MECP2 … Read more

Molecular determinants of Rett syndrome and diseases caused by MECP2 gene

June 16, 2021June 29, 2015 by Editorial Team

Reference: na Abstract: n.a PROJECT DETAILS beginning: 2004. end: 2005. Country of research: Italy Counry of funding source: Italy Funding organization: MIUR FIRB Financing: NATIONAL FUNDINGS – 130 000 € hyperlink

Molecular biologickáanalýza MECP2 gene in patients with Rettovýmsyndromem

June 16, 2021June 29, 2015 by Editorial Team

Reference: 301/01/P068 Abstract: ProjektGA CR 301/01/P068 focused on molecular-biological analysis MeCP2genu. Its defect leads to clinical manifestations of Rett syndrome (RS) (OMIM312750), which is the second most common cause of mental retardation dívek.Dědičnost RS gonosomal dominant with incidence approximately 1 to 000 10000-15; vast majority of mutations created de novo. MECP2 gene, described in 1999, … Read more

Modulators of bio-aminergic pathways for the treatment of Rett syndrome

June 16, 2021June 29, 2015 by Editorial Team

Reference: ANRn.a.8-BIOTn.a.020 Abstract: Rett syndrome (RS) is a severe neurological disorder caused by a mutation in the MECP2 gene transcriptional repressor. SR girls develop normally until 6-18 months later, they suffer neurological symptoms and severe respiratory ?irregularities. So far no treatment is available. Previously, using a mouse model of SR, we have shown that disruption … Read more

Modeling of pathogenic breathing pattern dysregulation in cardiopulmonary disease

June 16, 2021June 29, 2015 by Editorial Team

Reference: 5R33HL087347 Abstract: Ventilatory arrhythmia plays a pathogenic role in many common respiratory disorders ranging from sleep apnea, and acute lung injury to ventilatory support in the setting of chronic lung disease. Brainstem neural circuits that control cardiopulmonary functions generate oscillatory patterns that drive respiratory as well as sympathetic motor activities. These patterns exhibit highly … Read more