22 documents found, page 1 of 3

Cross-cultural adaptation and reliability of the European Portuguese version of...

Purpose: To culturally adapt the Musculoskeletal Health Questionnaire (MSK-HQ) to European Portuguese and evaluate its reliability in individuals with musculoskeletal conditions. Materials and methods: The study was carried out in two phases. In the first phase, the MSK-HQ was translated and culturally adapted. In the second phase, a longitudinal observational study was carried out with a convenience sample of ...

Eltrombopag Use in Children with Persistent and Chronic Primary Immune Thromboc...

Mutational mechanism for DAB1 (ATTTC)n insertion in SCA37: ATTTT repeat lengthe...

Dynamic mutations by microsatellite instability are the molecular basis of a growing number of neuromuscular and neurodegenerative diseases. Repetitive stretches in the human genome may drive pathogenicity, either by expansion above a given threshold, or by insertion of abnormal tracts in nonpathogenic polymorphic repetitive regions, as is the case in spinocerebellar ataxia type 37 (SCA37). We have recently est...

Mutational mechanism for DAB1 (ATTTC)n insertion in SCA37: ATTTT repeat lengthe...

Dynamic mutations by microsatellite instability are the molecular basis of a growing number of neuromuscular and neurodegenerative diseases. Repetitive stretches in the human genome may drive pathogenicity, either by expansion above a given threshold, or by insertion of abnormal tracts in nonpathogenic polymorphic repetitive regions, as is the case in spinocerebellar ataxia type 37 (SCA37). We have recently est...

Mutational mechanism for DAB1 (ATTTC)n insertion in SCA37: ATTTT repeat lengthe...

Dynamic mutations by microsatellite instability are the molecular basis of a growing number of neuromuscular and neurodegenerative diseases. Repetitive stretches in the human genome may drive pathogenicity, either by expansion above a given threshold, or by insertion of abnormal tracts in nonpathogenic polymorphic repetitive regions, as is the case in spinocerebellar ataxia type 37 (SCA37). We have recently est...

Mutational mechanism for DAB1 (ATTTC)n insertion in SCA37: ATTTT repeat lengthe...

Abstract Dynamic mutations by microsatellite instability are the molecular basis of a growing number of neuromuscular and neurodegenerative diseases. Repetitive stretches in the human genome may drive pathogenicity, either by expansion above a given threshold, or by insertion of abnormal tracts in nonpathogenic polymorphic repetitive regions, as is the case in spinocerebellar ataxia type 37 (SCA37). We have rec...

Mutational mechanism for DAB1 (ATTTC)n insertion in SCA37: ATTTT repeat lengthe...

Dynamic mutations by microsatellite instability are the molecular basis of a growing number of neuromuscular and neurodegenerative diseases. Repetitive stretches in the human genome may drive pathogenicity, either by expansion above a given threshold, or by insertion of abnormal tracts in nonpathogenic polymorphic repetitive regions, as is the case in spinocerebellar ataxia type 37 (SCA37). We have recently est...

The Dynamics of Interleukin-10-afforded protection during dextran sulfate sodiu...

Inflammatory bowel disease encompasses a group of chronic-inflammatory conditions of the colon and small intestine. These conditions are characterized by exacerbated inflammation of the organ that greatly affects the quality of life of patients. Molecular mechanisms counteracting this hyperinflammatory status of the gut offer strategies for therapeutic intervention. Among these regulatory molecules is the anti-...

A nonribosomal peptide synthase gene driving virulence in Mycobacterium tubercu...

Nonribosomal peptide synthases produce short peptides in a manner that is distinct from classical mRNA-dependent ribosome-mediated translation. The Mycobacterium tuberculosis genome harbors a nonribosomal peptide synthase gene, nrp, which is part of a gene cluster proposed to be involved in the biosynthesis of isonitrile lipopeptides. Orthologous clusters are found in other slow-growing pathogenic mycobacteria ...

L-threonine supplementation during colitis onset delays disease recovery

Dietary nutrients have emerged as potential therapeutic adjuncts for inflammatory bowel disease (IBD) given their impact on intestinal homeostasis through the modulation of immune response, gut microbiota composition and epithelial barrier stability. Several nutrients have already been associated with a protective phenotype. Yet, there is a lack of knowledge toward the most promising ones as well as the most ad...