1. Cindy Rondón Michelle Silvera Medicine Students University Pontificia Bolivariana 2011
2. NEOPLASIA Abnormal proliferation of cells in a tissue or organ Neoplasma Gastrointestinal Neoplasia Tumor No tumor Microsatellite Cromosomal Mosaic Variegate Instability Instability Aneuplody
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25. Author Idea Yes No Ilanks S et al “ Karyoptypes of both lymphocites and fibroblast from the patient reveled a cytogenetic picture closely resembling that seen in cases of the mosaic variegate aneuplody syndrome caused by bialellic BUB1B mutation” X Kaplan KB et al, Musacchio A et al “ APC and BUBR1 are both implicated in regulation of mitosis” X
26. Author Idea Yes No Bohers E et al. “ Reduction in levels of full length BUBR1 protein first resulted in premature chromatide separation and then, when recued to less than 50% of the normal level, resulted in aneuplody” X Ilanks et al “ homozygocity for complete BUB1B has been postulated to be lethal in humans as well” X
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Notes de l'éditeur
Sindrome con mutacion BUB1B + cancer ( neoplasias Sindrome SIN mutacion BUB1B - cancer No sindrome CON mutacion BUB1B = cancer …………….es lo rarooo !!!! Lo del señoorrr !!!
Estos dos propositos se relacionan ya que al observar al funcion de los fibroblastos se encontró en el probando habia poca cantidad de la proteina normal.
RECUERDAAAA:: EN CÉLULAS TUMORALES LA PROTEINA bubR1 ESTABA EN UP-REGULATION NO POR LA CANTIDAD DE LA PROTEINA EN CADA CELULA, SINO POR LA CANTIDAD DE CELULAS TUMORALES !!!
