Publications by authors named "Jorge Andres Olave-Rodriguez"
Article Synopsis
- The CYLD cutaneous syndrome leads to multiple skin tumors like cylindromas and spiradenomas, primarily affecting the face and head, with more frequent occurrence in women.
- A Colombian family spanning three generations showcased early onset of this syndrome, confirmed by genetic analysis identifying a specific variant in the CYLD gene.
- Understanding the genetic and environmental factors behind the syndrome is vital for developing better treatments and enhancing patient care.
Background: Protein MUTYH, encoded by the gene MUTYH, is an important mismatch repair enzyme in the base-excision repair pathway of DNA repair. When genetically altered, different neoplastic conditions can arise. One of the widely known syndromes associated with mutations is -associated polyposis, a form of familial colorectal cancer syndrome.
View Article and Find Full Text PDFBackground: Becker's type myotonia congenita is an autosomal recessive nondystrophic skeletal muscle disorder characterized by muscle stiffness and the inability of muscle relaxation after voluntary contraction. It is caused by mutations in the gene, which encodes for a chloride channel mainly expressed in the striated muscle. Most cases have been reported in the European population, and only mexiletine has demonstrated a randomized placebo-controlled, double-blinded effectiveness.
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