Zobrazeno 1 - 10
of 196
pro vyhledávání: '"Isabelle Meunier"'
Autor:
Zelia Corradi, Claire-Marie Dhaenens, Olivier Grunewald, Ipek Selen Kocabaş, Isabelle Meunier, Sandro Banfi, Marianthi Karali, Frans P. M. Cremers, Rebekkah J. Hitti-Malin
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 11, p 5940 (2024)
ABCA4 is the most frequently mutated gene leading to inherited retinal disease (IRD) with over 2200 pathogenic variants reported to date. Of these, ~1% are copy number variants (CNVs) involving the deletion or duplication of genomic regions, typicall
Externí odkaz:
https://doaj.org/article/821f45faf9e648c183b644a0d18dfc90
Autor:
Béatrice Bocquet, Caroline Borday, Nejla Erkilic, Daria Mamaeva, Alicia Donval, Christel Masson, Karine Parain, Karolina Kaminska, Mathieu Quinodoz, Irene Perea-Romero, Gema Garcia-Garcia, Carla Jimenez-Medina, Hassan Boukhaddaoui, Arthur Coget, Nicolas Leboucq, Giacomo Calzetti, Stefano Gandolfi, Antonio Percesepe, Valeria Barili, Vera Uliana, Marco Delsante, Francesca Bozzetti, Hendrik P.N. Scholl, Marta Corton, Carmen Ayuso, Jose M. Millan, Carlo Rivolta, Isabelle Meunier, Muriel Perron, Vasiliki Kalatzis
Publikováno v:
JCI Insight, Vol 8, Iss 21 (2023)
Retinitis pigmentosa (RP) is the most common inherited retinal disease (IRD) and is characterized by photoreceptor degeneration and progressive vision loss. We report 4 patients presenting with RP from 3 unrelated families with variants in TBC1D32, w
Externí odkaz:
https://doaj.org/article/95febfe0764a45129e5a016236db8fd5
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:
Daan M. Panneman, Rebekkah J. Hitti-Malin, Lara K. Holtes, Suzanne E. de Bruijn, Janine Reurink, Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere, Sandro Banfi, Miriam Bauwens, Tamar Ben-Yosef, Béatrice Bocquet, Marieke De Bruyne, Berta de la Cerda, Frauke Coppieters, Pietro Farinelli, Thomas Guignard, Chris F. Inglehearn, Marianthi Karali, Ulrika Kjellström, Robert Koenekoop, Bart de Koning, Bart P. Leroy, Martin McKibbin, Isabelle Meunier, Konstantinos Nikopoulos, Koji M. Nishiguchi, James A. Poulter, Carlo Rivolta, Enrique Rodríguez de la Rúa, Patrick Saunders, Francesca Simonelli, Yasmin Tatour, Francesco Testa, Alberta A. H. J. Thiadens, Carmel Toomes, Anna M. Tracewska, Hoai Viet Tran, Hiroaki Ushida, Veronika Vaclavik, Virginie J. M. Verhoeven, Maartje van de Vorst, Christian Gilissen, Alexander Hoischen, Frans P. M. Cremers, Susanne Roosing
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs i
Externí odkaz:
https://doaj.org/article/70773f087bee4d9ea754539e4fee1ac1
Autor:
Isabelle Meunier, Béatrice Bocquet, Sabine Defoort-Dhellemmes, Vasily Smirnov, Carl Arndt, Marie Christine Picot, Hélène Dollfus, Majida Charif, Isabelle Audo, Hélèna Huguet, Xavier Zanlonghi, Guy Lenaers
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Abstract Dominant optic atrophy (DOA) is genetically heterogeneous and most commonly caused by mutations in OPA1. To distinguish between the classical OPA1-related and the recently identified SSBP1-related DOAs, the retina and fovea of 27 patients ca
Externí odkaz:
https://doaj.org/article/8fa606812b804c0a99225be600404957
Autor:
Corinne Kostic, Sylvain V. Crippa, Lorette Leon, Christian Hamel, Isabelle Meunier, Aki Kawasaki
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Abstract Rods, cones and melanopsin contribute in various proportions, depending on the stimulus light, to the pupil light response. This study used a first derivative analysis to focus on the quantification of the dynamics of pupillary dilation that
Externí odkaz:
https://doaj.org/article/30079033d3af4040848223507e108fb5
Autor:
Sara Geada, Francisco Teixeira-Marques, Bruno Teixeira, Ana Luísa Carvalho, Nuno Lousan, Jorge Saraiva, Joaquim Murta, Rufino Silva, Xavier Zanlonghi, Sabine Defoort-Dhellemmes, Vasily Smirnov, Claire-Marie Dhaenens, Catherine Blanchet, Isabelle Meunier, João Pedro Marques
Publikováno v:
Genes, Vol 14, Iss 4, p 830 (2023)
CNGB1 gene mutations are a well-known cause of autosomal recessive retinitis pigmentosa (RP), which was recently associated with olfactory dysfunction. The purpose of this study was to report the molecular spectrum and the ocular and olfactory phenot
Externí odkaz:
https://doaj.org/article/0aaf5d4a4d944baa82a3e947deb30a55
Autor:
Emmanuelle Moret, Raphaël Lejoyeux, Sophie Bonnin, Georges Azar, Jessica Guillaume, Chloé Le Cossec, Justine Lafolie, Anne-Sophie Alonso, Catherine Favard, Isabelle Meunier, Vivien Vasseur, Martine Mauget-Faÿsse
Publikováno v:
Journal of Personalized Medicine, Vol 13, Iss 2, p 337 (2023)
Purpose: To determine the prevalence and characteristics of foveal hypoplasia (also called fovea plana) in patients with Best disease using spectral-domain (SD) optical coherence tomography (OCT) and OCT-angiography (OCT-A). Design: A retrospective o
Externí odkaz:
https://doaj.org/article/13fde559535a426cad7e320dba171d44
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