Listar por tema "Tuberous sclerosis complex"
Mostrando ítems 1-5 de 5
-
Investigação de grandes rearranjos e mecanismo de doença nas genodermatoses mais comuns: Neurofibromatose tipo 1 e Esclerose tuberosa
(2021) [Tesis]Introdução: As doenças monogênicas neurofibromatose tipo 1 (NF1) e esclerose Tuberosa (ET) são consideradas síndromes genéticas raras com malignidade associada. Trata-se das duas genodermatoses mais frequentes, que apresentam ... -
Primary cells derived from Tuberous Sclerosis Complex patients show autophagy alteration in the haploinsufficiency state
(2021) [Artículo de periódico]Tuberous sclerosis complex (TSC) is an autosomal dominant cancer predisposition disorder caused by heterozygous mutations in TSC1 or TSC2 genes and characterized by mTORC1 hyperactivation. TSC-associated tumors develop ... -
Revisão da patologia molecular e estratégia para a investigação de pacientes com suspeita clínica de esclerose tuberosa e diagnóstico molecular convencional inconclusivo
(2023) [Tesis de maestría]Tuberous Sclerosis (TE) is an autosomal dominant disease with diverse clinical manifestations affecting multiple tissues. Although the clinical diagnosis of these disorders can usually be made by the phenotype at birth or ... -
The paradox of autophagy in tuberous sclerosis complex
(2021) [Artículo de periódico]Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder caused by germline mutations in TSC1 or TSC2 genes, which leads to the hyperactivation of the mTORC1 pathway, an important negative regulator of ... -
TSC1 and TSC2 gene mutations and their implications for tratment in tuberous sclerosis complex : a review
(2017) [Artículo de periódico]Tuberous sclerosis complex is an autosomal dominant disorder characterized by skin manifestations and formation of multiple tumors in different organs, mainly in the central nervous system. Tuberous sclerosis is caused by ...
