Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Lyes Toualbi"'
Publikováno v:
BMJ Open Ophthalmology, Vol 9, Iss Suppl 1 (2024)
Externí odkaz:
https://doaj.org/article/e14707f246cf43b1af73c8c63090b3de
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 20, p 15225 (2023)
Choroideremia (CHM) is an X-linked chorioretinal dystrophy leading to progressive retinal degeneration that results in blindness by late adulthood. It is caused by mutations in the CHM gene encoding the Rab Escort Protein 1 (REP1), which plays a cruc
Externí odkaz:
https://doaj.org/article/2183782facfc484d9a8be6e602ce9bd2
Autor:
Hajrah Sarkar, Cécile Méjécase, Philippa Harding, Jonathan Eintracht, Lyes Toualbi, Dulce Lima Cunha, Mariya Moosajee
Publikováno v:
Stem Cell Research, Vol 54, Iss , Pp 102449- (2021)
Induced pluripotent stem cell (iPSC) lines were generated from two patients with RDH12 variants. UCLi014-A is from a patient with heterozygous frameshift mutation c.759del p.(Phe254Leufs*24), associated with autosomal dominant retinitis pigmentosa. U
Externí odkaz:
https://doaj.org/article/4ca0ddbcfc7348f0aabdd23156a8778f
Autor:
Nicholas Owen, Maria Toms, Yuan Tian, Lyes Toualbi, Rose Richardson, Rodrigo Young, Dhani Tracey‐White, Pawan Dhami, Stephan Beck, Mariya Moosajee
Publikováno v:
The Journal of Pathology. 259:441-454
The crumbs cell polarity complex plays a crucial role in apical-basal epithelial polarity, cellular adhesion, and morphogenesis. Homozygous variants in human CRB1 result in autosomal recessive Leber congenital amaurosis (LCA) and retinitis pigmentosa
Autor:
Philippa Harding, Dulce Lima Cunha, Cécile Méjécase, Jonathan Eintracht, Lyes Toualbi, Hajrah Sarkar, Mariya Moosajee
Publikováno v:
Stem Cell Research, Vol 51, Iss , Pp 102184- (2021)
A human induced pluripotent stem cell (hiPSC) line (UCLi013-A) was generated from fibroblast cells of a 34-year-old donor with multiple ocular conditions including severe microphthalmia and aniridia. The patient had a heterozygous missense mutation i
Externí odkaz:
https://doaj.org/article/ab87db4c38274f7f89e36e6d555fc2d2
Autor:
Marcela Garita-Hernandez, Antoine Chaffiol, Laure Guibbal, Fiona Routet, Hanen Khabou, Luisa Riancho, Lyes Toualbi, Serge Picaud, José-Alain Sahel, Olivier Goureau, Jens Duebel, Deniz Dalkara
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 15 (2021)
Human-induced pluripotent stem cell (hiPSC) derived organoids have become increasingly used systems allowing 3D-modeling of human organ development, and disease. They are also a reliable source of cells for transplantation in cell therapy and an exce
Externí odkaz:
https://doaj.org/article/d52cba0458fb442b986f0c8aa3494476
Autor:
Cécile Méjécase, Philippa Harding, Hajrah Sarkar, Jonathan Eintracht, Dulce Lima Cunha, Lyes Toualbi, Mariya Moosajee
Publikováno v:
Stem Cell Research, Vol 49, Iss , Pp 102113- (2020)
Two human induced pluripotent stem cell (hiPSC) lines (UCLi016-A and UCLi017-A) were generated from fibroblast cells of 23- and 34-year-old healthy male donors with no known ocular conditions. Fibroblast cells were derived from skin biopsies and repr
Externí odkaz:
https://doaj.org/article/c85efd6d7fb54a41b226301928a6a406
Autor:
Marcela Garita-Hernandez, Laure Guibbal, Lyes Toualbi, Fiona Routet, Antoine Chaffiol, Celine Winckler, Marylin Harinquet, Camille Robert, Stephane Fouquet, Sebastien Bellow, José-Alain Sahel, Olivier Goureau, Jens Duebel, Deniz Dalkara
Publikováno v:
Frontiers in Neuroscience, Vol 12 (2018)
Optogenetic technologies paved the way to dissect complex neural circuits and monitor neural activity using light in animals. In retinal disease, optogenetics has been used as a therapeutic modality to reanimate the retina after the loss of photorece
Externí odkaz:
https://doaj.org/article/5def07d975674cef8a61a3153bcd26c6
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 5, p 2318 (2021)
Inherited retinal diseases (IRDs) are a heterogeneous group of disorders causing progressive loss of vision, affecting approximately one in 1000 people worldwide. Gene augmentation therapy, which typically involves using adeno-associated viral vector
Externí odkaz:
https://doaj.org/article/cc208ba23c324ba781726ae65dce6b3e
AAV-Mediated Gene Delivery to 3D Retinal Organoids Derived from Human Induced Pluripotent Stem Cells
Autor:
Marcela Garita-Hernandez, Fiona Routet, Laure Guibbal, Hanen Khabou, Lyes Toualbi, Luisa Riancho, Sacha Reichman, Jens Duebel, Jose-Alain Sahel, Olivier Goureau, Deniz Dalkara
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 3, p 994 (2020)
Human induced pluripotent stem cells (hiPSCs) promise a great number of future applications to investigate retinal development, pathophysiology and cell therapies for retinal degenerative diseases. Specific approaches to genetically modulate hiPSC wo
Externí odkaz:
https://doaj.org/article/c4bcba0faf8e48aca66c844dadf1d993