UPK3B, uroplakin 3B, 105375355

N. diseases: 82; N. variants: 3
Disease: Tuberous Sclerosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.010 GeneticVariation disease BEFREE In this article, we discuss three such models: (1) the Eker rat model of tuberous sclerosis, in which a gene mutation gives rise to cortical disorganization and cytologically abnormal cellular elements; (2) the p35 knockout mouse, in which the genetic dysfunction gives rise to compromised cortical organization and lamination, but in which the cellular elements appear normal; and (3) the methylazoxymethanol-exposed rat, in which time-specific chemical DNA disruption leads to abnormal patterns of cell formation and migration, resulting in heterotopic neuronal clusters. 22612807 2012