13 research outputs found
X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients
Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X chromosome inactivation (XCI) could play a role in the wide range of phenotypic variation of RTT patients; however, classical methylation-based protocols to evaluate XCI could not determine whether the preferentially inactivated X chromosome carried the mutant or the wild-type allele. Therefore, we developed an allele-specific methylation-based assay to evaluate methylation at the loci of several recurrent MECP2 mutations. We analyzed the XCI patterns in the blood of 174 RTT patients, but we did not find a clear correlation between XCI and the clinical presentation. We also compared XCI in blood and brain cortex samples of two patients and found differences between XCI patterns in these tissues. However, RTT mainly being a neurological disease complicates the establishment of a correlation between the XCI in blood and the clinical presentation of the patients. Furthermore, we analyzed MECP2 transcript levels and found differences from the expected levels according to XCI. Many factors other than XCI could affect the RTT phenotype, which in combination could influence the clinical presentation of RTT patients to a greater extent than slight variations in the XCI pattern
Oral Multicomponent DNA Vaccine Delivered by Attenuated Salmonella Elicited Immunoprotection Against American Trypanosomiasis
Molecular Basis of Passive Stress Relaxation in Human Soleus Fibers: Assessment of the Role of Immunoglobulin-Like Domain Unfolding
Structure of BAI1/ELMO2 complex reveals an action mechanism of adhesion GPCRs via ELMO family scaffolds
Nicotine induces resilience to chronic social defeat stress in a mouse model of water pipe tobacco exposure by activating BDNF signaling
Disulfide isomerization reactions in titin immunoglobulin domains enable a mode of protein elasticity
A Two-Component DNA-Prime/Protein-Boost Vaccination Strategy for Eliciting Long-Term, Protective T Cell Immunity against Trypanosoma cruzi
Improved Proteomic Approach for the Discovery of Potential Vaccine Targets in Trypanosoma cruzi
Generic and Advanced Characterization Techniques
International audienceNowadays, the valorization of biomass, biowastes and by-products is among the key issue to be considered in the development of renewable energies from bioresources. Accurate analysis and characterization of these feedstocks is a crucial aspect in the understanding of their behaviour for further use. This chapter is focused on different characterization techniques which are commonly used up-to-date. They are classified in different categories: Sampling and storage; Proximate analysis; Ultimate analysis; Thermal analysis, Physical characterizations; Physico-chemical characterizations; Structural and textural characterizations; and Mechanical characterizations. For each of them, a general description of the technique is presented, followed by useful information on machines and experimental conditions such as sample preparation, sample pre-treatment, gas atmosphere, temperature program etc. Finally, examples, results treatment and exploitations will be provided to illustrate. This chapter provides an insight on generic and advanced characterization techniques for complex materials, such as biomass, biowastes and related bio-products, that will be again discussed along the handbook in the other chapters