Publications by authors named "Ana Boto"

Article Synopsis
  • * The study conducted at the University Hospital La Paz analyzed the genetic basis of keratoconus in 24 pediatric families using whole-exome sequencing, finding an oligogenic inheritance pattern.
  • * Identified candidate genes are linked to various corneal functions and repair processes, indicating potential therapeutic targets, but further research is needed to validate their role in pediatric keratoconus.
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We studied three patients who developed left unilateral punctate keratitis after suffering left-sided Wallenberg Syndrome. A complex evolution occurred in two of them. In all cases, neurophysiological studies showed damage in the trigeminal sensory component at the bulbar level.

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The presence of apolipoprotein D (apoD) synthesis in brain suggests that this protein could play a major role in mediating neuronal degeneration and regeneration in the central nervous system (CNS). For instance, apoD is overexpressed in neural tissues in Niemann-Pick's type C disease, after acute CNS injury and cerebral ischemia, Alzheimer's disease and by a number of different tumors such as breast, prostate, ovarian and endometrial carcinomas. Recent data have raised the possibility that apoD expression could be a marker of cellular differentiation and growth arrest.

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