Induced pluripotent stem cells and genome-editing tools in determining gene function and therapy for inherited retinal disorders
D Benati, A Leung, P Perdigao, V Toulis… - International Journal of …, 2022 - mdpi.com
Inherited retinal disorders (IRDs) affect millions of people worldwide and are a major cause
of irreversible blindness. Therapies based on drugs, gene augmentation or transplantation …
of irreversible blindness. Therapies based on drugs, gene augmentation or transplantation …
Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the …
C Saint‐Martin, M Cauchois‐Le Mière, E Rex… - Human …, 2021 - Wiley Online Library
ABCC8 encodes the SUR1 subunit of the β‐cell ATP‐sensitive potassium channel whose
loss of function causes congenital hyperinsulinism (CHI). Molecular diagnosis is critical for …
loss of function causes congenital hyperinsulinism (CHI). Molecular diagnosis is critical for …
[PDF][PDF] Development of knock-out muscle cell lines using lentivirus-mediated CRISPR/Cas 9 gene editing
M Beaufils, A Tourel, A Petiot, NB Halmai, DJ Segal… - J. Vis …, 2022 - researchgate.net
One important application of clustered regulatory interspaced short palindromic repeats
(CRISPR)/Cas 9 is the development of knock-out cell lines, specifically to study the function …
(CRISPR)/Cas 9 is the development of knock-out cell lines, specifically to study the function …
Commentary: CRISPR gene editing for inherited retinal dystrophies: Towards clinical translation
M Bansal, D Chakraborty - Indian Journal of Ophthalmology, 2022 - journals.lww.com
The clustered regularly interspaced short palindromic repeats (CRISPR) system won the
Nobel Prize in 2020. What makes this technology intriguing is the ability of the …
Nobel Prize in 2020. What makes this technology intriguing is the ability of the …
Mise en place d'une stratégie de validation fonctionnelle de variations de signification incertaine dans les pathologies constitutionnelles du globule rouge
L Mansour-Hendili - 2022 - theses.hal.science
Le déploiement du séquençage haut débit (SHD) ces dernières années au sein des
laboratoires de génétique hospitaliers en France et dans le monde a révolutionné la prise …
laboratoires de génétique hospitaliers en France et dans le monde a révolutionné la prise …
Investigating the pathogenic mechanisms of inherited retinal diseases: an in vitro-and CRISPR-based approach
SY Moon - 2022 - research-repository.uwa.edu.au
Inherited retinal diseases (IRDs) are a diverse group of genetic diseases that are the most
common cause of blindness in children and working aged adults. However, gaps in our …
common cause of blindness in children and working aged adults. However, gaps in our …
CRISPR-Cas9 to model retinitis pigmentosa caused by mutations in splicing factors in C. elegans
D Kukhtar Kukhtar - 2021 - diposit.ub.edu
[eng] Retinitis pigmentosa (RP) is a rare, heterogenic, and hereditary disease that produces
gradual loss of the visual field and can cause blindness. Mutations causing RP are still …
gradual loss of the visual field and can cause blindness. Mutations causing RP are still …