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Encefalopatía epiléptica infantil en un paciente colombiano con una variante patogénica de novo en el gen STXBP1
(Sociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la Salud, 2020-11-13)
Efecto de la sobre-expresión de Tomosyn (STXBP5) en líneas celulares de cáncer de mama
(2021-04)
"Tomosyn (STXBP5) es una proteína de 130 kDa que pertenece a la familia SNARE. Su función principal está implicada en la regulación del procesos de exocitosis entre membranas, evidenciándose que al sobre-expresarse disminuye ...
Assessing the landscape of STXBP1-related disorders in 534 individuals
(Oxford University Press, 2022)
Assessing the landscape of STXBP1-related disorders in 534 individuals
(Oxford University Press, 2021)
Characterizing the Genetic Architecture of Parkinson's Disease in Latinos
(Wiley, 2021)
Objective This work was undertaken in order to identify Parkinson's disease (PD) risk variants in a Latino cohort, to describe the overlap in the genetic architecture of PD in Latinos compared to European-ancestry subjects, ...
Genes that code for T cell signaling proteins establish transcriptional regulatory networks during thymus ontogeny
(SPRINGER, 2008)
Gene expression profiling by cDNA microarrays during murine thymus ontogeny has contributed to dissecting the large-scale molecular genetics of T cell maturation. Gene profiling, although useful for characterizing the ...
The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome
(W.B. Saunders Ltd, 2019)
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that is caused by mutations in the MECP2 gene; however, defects in other genes (CDKL5 and FOXG1) can lead to presentations that resemble classic RTT, although ...