5 research outputs found

    Aptitudes para el pelado enzimático de cuatro variedades tradicionales de naranja

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    Los autores agradecen a la Conselleria de Cultura Educacio i Ciencia de la Generalitat Valenciana Ja financiación de este trabajo con el Proyecro GV00-136-13, "Utilización de nue­vas tecnologías post-recolección para la récu­peración de variedades uadicionalcs de cítrí­cos en la Vega Baja del Segura"

    Nuevos usos comerciales para variedades tradicionales de cítricos del sureste español

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    Los autores agradecen a la Conselleria de Cultura. Educacio i Ciencia de la Generalitat Valenciana la financiación de este trabajo con el Proyecto GV00-136-13, "Utilización de nuevas tecnologías post-recolección paro la recuperación de variedades tradicionales de cítricos en la Vega Baja del Segura

    X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

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    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
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