Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Carla Sanjurjo Soriano"'
Autor:
Carla Sanjurjo-Soriano, Carla Jimenez-Medina, Nejla Erkilic, Luisina Cappellino, Arnaud Lefevre, Kerstin Nagel-Wolfrum, Uwe Wolfrum, Erwin Van Wijk, Anne-Françoise Roux, Isabelle Meunier, Vasiliki Kalatzis
Publikováno v:
HGG Advances, Vol 4, Iss 4, Pp 100229- (2023)
Summary: There is an emblematic clinical and genetic heterogeneity associated with inherited retinal diseases (IRDs). The most common form is retinitis pigmentosa (RP), a rod-cone dystrophy caused by pathogenic variants in over 80 different genes. Fu
Externí odkaz:
https://doaj.org/article/12422b011d57494b951baf0609ec467e
Autor:
Carla Sanjurjo-Soriano, Nejla Erkilic, Krishna Damodar, Hassan Boukhaddaoui, Michalitsa Diakatou, Marcela Garita-Hernandez, Daria Mamaeva, Gregor Dubois, Zhour Jazouli, Carla Jimenez-Medina, Olivier Goureau, Isabelle Meunier, Vasiliki Kalatzis
Publikováno v:
Stem Cell Research & Therapy, Vol 13, Iss 1, Pp 1-17 (2022)
Abstract Background Human-induced pluripotent stem cell-derived retinal organoids are a valuable tool for disease modelling and therapeutic development. Many efforts have been made over the last decade to optimise protocols for the generation of orga
Externí odkaz:
https://doaj.org/article/c832a7f75954473db73eb1042c2e8ef9
Autor:
Carla Sanjurjo-Soriano, Nejla Erkilic, Christel Vache, Gregor Dubois, Anne-Françoise Roux, Isabelle Meunier, Vasiliki Kalatzis
Publikováno v:
Stem Cell Research, Vol 60, Iss , Pp 102738- (2022)
We report here the generation of the human iPSC line INMi005-A from a patient with non-syndromic autosomal recessive retinitis pigmentosa caused by compound heterozygous mutations in the USH2A gene. The reprogramming of primary human dermal fibroblas
Externí odkaz:
https://doaj.org/article/80ebaca8f2e7443683df77b81e1672fa
Autor:
Carla Sanjurjo-Soriano, Nejla Erkilic, David Baux, Daria Mamaeva, Christian P. Hamel, Isabelle Meunier, Anne-Françoise Roux, Vasiliki Kalatzis
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 156-173 (2020)
Inherited retinal dystrophies (IRDs) are characterized by progressive photoreceptor degeneration and vision loss. Usher syndrome (USH) is a syndromic IRD characterized by retinitis pigmentosa (RP) and hearing loss. USH is clinically and genetically h
Externí odkaz:
https://doaj.org/article/e63ae021638f425891097daa81480622
Autor:
Carla Sanjurjo-Soriano, Nejla Erkilic, Gaël Manes, Gregor Dubois, Christian P. Hamel, Isabelle Meunier, Vasiliki Kalatzis
Publikováno v:
Stem Cell Research, Vol 33, Iss , Pp 228-232 (2018)
We generated an induced pluripotent stem cell (iPSC) line from a patient with non-syndromic retinitis pigmentosa who is a compound heterozygote for the two most frequent USH2A variants, c.2276G > T and c.2299delG localized in exon 13. Patient fibrobl
Externí odkaz:
https://doaj.org/article/e4d097725577410db45b55eb1c2b6612
Autor:
Carla Sanjurjo-Soriano, Nejla Erkilic, Gaël Manes, Gregor Dubois, Christian P. Hamel, Isabelle Meunier, Vasiliki Kalatzis
Publikováno v:
Stem Cell Research, Vol 33, Iss , Pp 247-250 (2018)
We generated an induced pluripotent stem cell (iPSC) line using dermal fibroblasts from a patient with Usher syndrome type 2 (USH2). This individual was homozygous for the most prevalent variant reported in the USH2A gene, c.2299delG localized in exo
Externí odkaz:
https://doaj.org/article/a44b65140a8f40a38d9d40a1ec89cb44
Autor:
Nejla Erkilic, Carla Sanjurjo-Soriano, Michalitsa Diakatou, Gaël Manes, Gregor Dubois, Christian P. Hamel, Isabelle Meunier, Vasiliki Kalatzis
Publikováno v:
Stem Cell Research, Vol 38, Iss , Pp - (2019)
We generated an induced pluripotent stem cell (iPSC) line using dermal fibroblasts from a 53 year-old patient with autosomal dominant cone-rod dystrophy (CRD) caused by a missense mutation, c.121C > T, in the CRX gene. Patient fibroblasts were reprog
Externí odkaz:
https://doaj.org/article/45f77f87f095475abf3409967468c2cd
Autor:
Nejla Erkilic, Carla Sanjurjo-Soriano, Gaël Manes, Gregor Dubois, Christian P. Hamel, Isabelle Meunier, Vasiliki Kalatzis
Publikováno v:
Stem Cell Research, Vol 38, Iss , Pp - (2019)
The human induced pluripotent stem cell (iPSC) line, INMi004-A, was generated using dermal fibroblasts from a 6 year-old patient with autosomal dominant Leber Congenital Amaurosis (LCA) caused by the point mutation c.695delC (p.Pro232Argfs*139) in th
Externí odkaz:
https://doaj.org/article/227d251b4398442ea0e5916512767e2f
Publikováno v:
Neural Plasticity, Vol 2018 (2018)
Inherited retinal dystrophies (IRDs) are a leading cause of visual impairment in the developing world. These conditions present an irreversible dysfunction or loss of neural retinal cells, which significantly impacts quality of life. Due to the anato
Externí odkaz:
https://doaj.org/article/5bc64d0c24ef4725b5aff1598ccd64ee
Autor:
Nejla Erkilic, Vincent Gatinois, Simona Torriano, Pauline Bouret, Carla Sanjurjo-Soriano, Valerie De Luca, Krishna Damodar, Nicolas Cereso, Jacques Puechberty, Rocio Sanchez-Alcudia, Christian P. Hamel, Carmen Ayuso, Isabelle Meunier, Franck Pellestor, Vasiliki Kalatzis
Publikováno v:
Cells, Vol 8, Iss 9, p 1068 (2019)
Induced pluripotent stem cells (iPSCs) have revolutionized the study of human diseases as they can renew indefinitely, undergo multi-lineage differentiation, and generate disease-specific models. However, the difficulty of working with iPSCs is that
Externí odkaz:
https://doaj.org/article/58696ef3e8e64d819ea17608c3d767c6