Buscar
Mostrando ítems 31-40 de 70
Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease
(Kluwer Academic Publ, 2002-11-01)
Canavan disease, an inherited leukodystrophy, is caused by mutations in the aspartoacylase (ASPA) gene. It is most common among children of Ashkenazi Jewish descent but has been diagnosed in many diverse ethnic groups. Two ...
Compound heterozygous DUOX2 gene mutations (c.2335-1G>C/c.3264_3267delCAGC) associated with congenital hypothyroidism: Characterization of complex cryptic splice sites by minigene analysis
(Elsevier Ireland, 2016-01)
Iodide Organification defects (IOD) represent 10% of cases of congenital hypothyroidism (CH) being the main genes affected that of TPO (thyroid peroxidase) and DUOX2 (dual oxidasa 2). From a patient with clinical and ...
Avaliação do papel de genes imunorreguladores (B18R, D9R e D10R) em infecções causadas por amostras de Vaccinia virus: utilização de vírus recombinantes como ferramenta de análise
(Universidade Federal de Minas GeraisBrasilICB - DEPARTAMENTO DE MICROBIOLOGIAPrograma de Pós-Graduação em MicrobiologiaUFMG, 2015-10-29)
The Orthopoxvirus (OPXV) are part of the Poxviridae family comprising large, complex
viruses having double-stranded DNA genomes and with viral multiplication taking place in the
cytoplasm of the host cell. In order to ...
La hemolisina termoestable directa, tdhA, es parte de un transposón compuesto funcional en Vibrio parahaemolyuticus RIMD 2210633
(Universidad Andrés Bello, 2010)
RESUMEN: Vibrio parahaemolyticus es una bacteria de origen marino y agente causal de un síndrome
diarreico por consumo de alimentos marinos contaminados. En Chile, este cuadro se produce cada
verano con un número de casos ...
MuPeXI: prediction of neo-epitopes from tumor sequencing data
(Springer, 2017-09)
Personalization of immunotherapies such as cancer vaccines and adoptive T cell therapy depends on identification of patient-specific neo-epitopes that can be specifically targeted. MuPeXI, the mutant peptide extractor and ...
Streptococcus mutans extracellular DNA is upregulated during growth in biofilms, actively released via membrane vesicles, and influenced by components of the protein secretion machinery
(2014-01-01)
Streptococcus mutans, a major etiological agent of human dental caries, lives primarily on the tooth surface in biofilms. Limited information is available concerning the extracellular DNA (eDNA) as a scaffolding matrix in ...