Distrofia Macular, Cistoide Dominante (DMCD) by Elena Elizabeth Mercado Flores https://padlet.com/a01566640/dswi8hsvqe89v7ha La distrofia macular cistoide dominante es una distrofia retiniana progresiva. Se caracteriza principalmente por colecciones de líquido cistoide de aparición temprana en la neurorretina (lo que distingue a este trastorno de otras distrofias retinianas). El rango fenotípico de DCMD se puede clasificar en 3 etapas. El locus genético se ha mapeado en 7p15.3 sin embargo, el gen específico es desconocido aun. Sin embargo, a través de malrcards.org se identifican los siguientes genes relacionados (VEGFA, BEST1, CRB1): en-us 2022-08-15 16:19:34 UTC 2022-08-30 16:41:50 UTC hello@padlet.com https://padlet.net/icons/png/1f440.png VEGFA a01566640 https://padlet.com/a01566640/dswi8hsvqe89v7ha/wish/2261384816 Factor de crecimiento endotelial vascular A
Categoria: Proteína codificante
Evidencia: Enfermedades inferidas
Ubicación en el genoma: Chromosome 6: 43,770,184-43,786,487 
Número de variantes de splicing: 26 (transcritos)]]> 2022-08-15 16:40:07 UTC https://padlet.com/a01566640/dswi8hsvqe89v7ha/wish/2261384816 BEST1 a01566640 https://padlet.com/a01566640/dswi8hsvqe89v7ha/wish/2261385523 Bestrofina 1
Categoria: Proteína codificante
Evidencia: Enfermedades inferidas
Ubicación en el genoma: Chromosome 11: 61,950,063-61,965,515 forward strand.
Números de variantes de splicing: 8 (Transcritos)


]]> 2022-08-15 16:41:00 UTC https://padlet.com/a01566640/dswi8hsvqe89v7ha/wish/2261385523 CRB1 a01566640 https://padlet.com/a01566640/dswi8hsvqe89v7ha/wish/2261386088 Crumbs Cell Polarity Complex Component 1
Categoria: Proteína codificante
Evidencia: Enfermedades inferidas
Ubicación en el genoma: Chromosome 1: 197,268,204-197,478,455 forward strand.
Numero de variantes de splicing: 12(Transcritos)

]]> 2022-08-15 16:41:44 UTC https://padlet.com/a01566640/dswi8hsvqe89v7ha/wish/2261386088 VEGFA GO- Molecular Function a01566640 https://padlet.com/a01566640/dswi8hsvqe89v7ha/wish/2264553405 2022-08-18 16:08:34 UTC https://padlet.com/a01566640/dswi8hsvqe89v7ha/wish/2264553405 VEGFA GO- Cellular Component a01566640 https://padlet.com/a01566640/dswi8hsvqe89v7ha/wish/2264554024 2022-08-18 16:09:22 UTC https://padlet.com/a01566640/dswi8hsvqe89v7ha/wish/2264554024 VEGFA GO- Biological Process a01566640 https://padlet.com/a01566640/dswi8hsvqe89v7ha/wish/2264557744 2022-08-18 16:13:06 UTC https://padlet.com/a01566640/dswi8hsvqe89v7ha/wish/2264557744 BEST1 GO- Cellular Component a01566640 https://padlet.com/a01566640/dswi8hsvqe89v7ha/wish/2264561473 2022-08-18 16:16:27 UTC https://padlet.com/a01566640/dswi8hsvqe89v7ha/wish/2264561473 BEST1 GO- Molecular Function a01566640 https://padlet.com/a01566640/dswi8hsvqe89v7ha/wish/2264561760 2022-08-18 16:16:40 UTC https://padlet.com/a01566640/dswi8hsvqe89v7ha/wish/2264561760 BEST1 GO- Biological Process a01566640 https://padlet.com/a01566640/dswi8hsvqe89v7ha/wish/2264561929 2022-08-18 16:16:52 UTC https://padlet.com/a01566640/dswi8hsvqe89v7ha/wish/2264561929 CRB1 GO- Cellular Component a01566640 https://padlet.com/a01566640/dswi8hsvqe89v7ha/wish/2264565255 2022-08-18 16:19:59 UTC https://padlet.com/a01566640/dswi8hsvqe89v7ha/wish/2264565255 CRB1 GO- Molecular Function a01566640 https://padlet.com/a01566640/dswi8hsvqe89v7ha/wish/2264565338 2022-08-18 16:20:04 UTC https://padlet.com/a01566640/dswi8hsvqe89v7ha/wish/2264565338 CRB1 GO- Biological Process a01566640 https://padlet.com/a01566640/dswi8hsvqe89v7ha/wish/2264565420 2022-08-18 16:20:10 UTC https://padlet.com/a01566640/dswi8hsvqe89v7ha/wish/2264565420