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Listar por autor "Bhattacharya, Shomi S."
Mostrando ítems 1-8 de 8
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Artículo
267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation
Dopazo, Joaquín; Amadoz, Alicia; Bleda, Marta; Garcia Alonso, Luz; Daub, Josephine T.; Antiñolo Gil, Guillermo; Bhattacharya, Shomi S. (Oxford University Press, 2016)Recent results from large-scale genomic projects suggest that allele frequencies, which are highly relevant for medical ...
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Tesis Doctoral
Caracterización fenotípica y terapia génica del ratón Prpf31A216P/+
Aramburu del Boz, Ana María (2015-12-10)El término Retinosis Pigmentaria (RP) engloba a un grupo de enfermedades hereditarias de la retina, caracterizadas por una ...
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Artículo
Generation of a human iPS cell line from a patient with retinitis pigmentosa due to EYS mutation
Calado, Sofía M.; García Delgado, Ana Belén; Cerda, Berta De la; Ponte-Zuñiga, Beatriz; Bhattacharya, Shomi S.; Díaz Corrales, Francisco Javier (Elsevier, 2018-11-16)Retinitis pigmentosa (RP) is an inherited retinal degenerative disease. Mutations in EYS have been associated with autosomal ...
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Artículo
Highly efficient neural conversion of human pluripotent stem cells in adherent and animal-free conditions
Lukovic, Dunja; Díez Lloret, Andrea; Stojkovic, Petra; Rodríguez Martínez, Daniel; Rodríguez Jiménez, Francisco Javier; González Rodríguez, P.; López Barneo, José; Moreno Manzano, Victoria; Stojkovic, Miodrag; Bhattacharya, Shomi S.; Erceg, Slaven (Wiley, 2017)Neural differentiation of human embryonic stem cells (hESCs) and induced pluripotent stem cells (hiPSCs) can produce a ...
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Artículo
Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins
Valdés Sánchez, Lourdes; Calado, Sofía M.; Cerda, Berta De la; Aramburu, Ana; García Delgado, Ana Belén; Massalini, Simone; Montero Sánchez, Adoración; Bhatia, Vaibhav; Rodríguez Bocanegra, Eduardo; Diez Lloret, Andrea; Rodríguez Martínez, Daniel; Chakarova, Christina; Bhattacharya, Shomi S.; Díaz Corrales, Francisco Javier (BMC (part of Springer Nature), 2020)Mutations in pre-mRNA splicing factor PRPF31 can lead to retinitis pigmentosa (RP). Although the exact disease mechanism ...
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Tesis Doctoral
Terapias avanzadas para enfermedades degenerativas de la retina
García Delgado, Ana Belén (2021-06-01)Las enfermedades degenerativas de la retina (EDR) son un grupo heterogéneo de patologías, algunas hereditarias y otras ...
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Artículo
TOPORS, a dual E3 ubiquitin and Sumo1 ligase, interacts with 26 S protease regulatory subunit 4, encoded by the PSMC1 gene
Czub, Barbara; Shah, Amna Z.; Alfano, Giovanna; Kruczek, P.M.; Chakarova, Christina; Bhattacharya, Shomi S. (Public Library of Science, 2016)The significance of the ubiquitin-proteasome system (UPS) for protein degradation has been highlighted in the context of ...
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Artículo
Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa
Rose, Anna M.; Shah, Amna Z.; Venturini, Giulia; Krishna, Abhay; Chakravarti, Aravinda; Rivolta, Carlo; Bhattacharya, Shomi S. (Nature Publishing Group, 2016)PRPF31-associated retinitis pigmentosa presents a fascinating enigma: some mutation carriers are blind, while others are ...