El objetivo general de este proyecto ha sido el estudio de la regulación de la metilación del ADN en células del sistema inmune y en células de pacientes con el síndrome X frágil. Para el estudio de la regulación de la metilación del ADN en el sistema inmune los objetivos específicos fueron: 1) Estudiar la implicación de diferentes vías de...
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June 14, 2016 (v1)PublicationUploaded on: March 27, 2023
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September 14, 2017 (v1)Publication
Mutations of the von Hippel–Lindau (VHL) gene are associated with pheochromocytomas and paragangliomas, but the role of VHL in sympathoadrenal homeostasis is unknown. We generated mice lacking Vhl in catecholaminergic cells. They exhibited atrophy of the carotid body (CB), adrenal medulla, and sympathetic ganglia. Vhl‐null animals had an...
Uploaded on: March 27, 2023 -
June 9, 2017 (v1)PublicationMay anomalous X chromosome methylation be responsible for the spontaneous abortion of a male foetus?
Pregnancy loss is an important reproductive problem which appears to be highly associated with genetic factors. A spontaneous abortion occurred before prenatal diagnosis could be performed, in a woman who carried a fragile X full mutation. DNA extracted from formalin-fixed para ffin-embedded chorionic villi preparations indicated that it was a...
Uploaded on: March 27, 2023 -
January 15, 2015 (v1)Publication
Background K+ channels of the TASK family are believed to participate in sensory transduction by chemoreceptor (glomus) cells of the carotid body (CB). However, studies on the systemic CB-mediated ventilatory response to hypoxia and hypercapnia in TASK1- and/or TASK3-deficient mice have yielded conflicting results. We have characterized the...
Uploaded on: March 27, 2023 -
March 1, 2024 (v1)Publication
Acute O2sensing is a fundamental property of cells in the peripheral chemoreceptors,e.g. glomus cells in the carotid body (CB) and chromaffin cells in the adrenal medulla (AM),and is necessary for adaptation to hypoxia. These cells contain O2-sensitive ion channels, whichmediate membrane depolarization and transmitter release upon exposure to...
Uploaded on: March 3, 2024 -
March 7, 2024 (v1)Publication
Biotin is a water-soluble vitamin required for the function of carboxylases as well asfor the regulation of gene expression. Here, we report that biotin accumulates in unusually largeamounts in cells of arterial chemoreceptors, carotid body (CB) and adrenal medulla (AM). Weshow in a biotin-deficient rat model that the vitamin rapidly disappears...
Uploaded on: March 9, 2024