Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Camille Letellier"'
Autor:
Andréa Amprou, Tasnim Ben Yacoub, Camille Letellier, Vincenzo Degaetano, Cécile Méjécase, Leila Azizzadeh Pormehr, Christel Condroyer, Amélie Slembrouck-Brec, Juliette Wohlschlegel, Olivier Goureau, Christina Zeitz, Isabelle Audo
Publikováno v:
Stem Cell Research, Vol 81, Iss , Pp 103558- (2024)
A Human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a patient affected with an autosomal recessive retinal dystrophy carrying the homozygous c.910-7G>A variant in UBAP1L. Three isogenic control iPSC lines derive
Externí odkaz:
https://doaj.org/article/cfe1bf2bef494c38813b8b13c8c4cb1d
Autor:
Tasnim Ben yacoub, Camille Letellier, Juliette Wohlschlegel, Christel Condroyer, Amélie Slembrouck-Brec, Olivier Goureau, Christina Zeitz, Isabelle Audo
Publikováno v:
Stem Cell Research, Vol 71, Iss , Pp 103166- (2023)
The ITM2B-related retinal dystrophy (ITM2B-RD) was identified within patients carrying the autosomal dominant variant [c.782A > C, p.(Glu261Ala)] in ITM2B from whom induced pluripotent stem cell (IPSC) lines were previously generated. Here, we report
Externí odkaz:
https://doaj.org/article/bc69cd3fd8fe48078ae624987b44ed21
Autor:
Juliette Wohlschlegel, Camille Letellier, Bingqian Liu, Cécile Méjécase, Amélie Slembrouck-Brec, Christel Condroyer, Christelle Michiels, José-Alain Sahel, Sacha Reichman, Christina Zeitz, Olivier Goureau, Isabelle Audo
Publikováno v:
Stem Cell Research, Vol 41, Iss , Pp - (2019)
Human induced pluripotent stem cell (iPSC) lines were generated from fibroblasts of a patient affected with an autosomal dominant retinal dystrophy carrying the mutation c.782A>C, p.Glu261Ala in ITM2B and from an unaffected brother. Three different i
Externí odkaz:
https://doaj.org/article/773cc77a70734b14a4f8c98a98c55f03
Autor:
Christel Condroyer, Gilles Thuret, Isabelle Audo, Christelle Michiels, Christina Zeitz, Valérie Forster, Juliette Wohlschlegel, M. Argentini, Thibaut Léger, Zhiguo He, Camille Letellier
Publikováno v:
Scientific Reports
Scientific Reports, Nature Publishing Group, 2021, 11 (1), pp.17210. ⟨10.1038/s41598-021-96571-6⟩
Scientific Reports, 2021, 11 (1), pp.17210. ⟨10.1038/s41598-021-96571-6⟩
Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)
Scientific Reports, Nature Publishing Group, 2021, 11 (1), pp.17210. ⟨10.1038/s41598-021-96571-6⟩
Scientific Reports, 2021, 11 (1), pp.17210. ⟨10.1038/s41598-021-96571-6⟩
Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)
Integral Membrane Protein 2 B (ITM2B) is a type II ubiquitous transmembrane protein which role remains unclear. ITM2B mutations have been associated with different disorders: mutations leading to longer mutant proteins have been reported in two disti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4713c5495f4f7e5fad2ef655f12226f1
https://pubmed.ncbi.nlm.nih.gov/34446781
https://pubmed.ncbi.nlm.nih.gov/34446781
Autor:
Juliette Wohlschlegel, Christophe Habas, Marco Nassisi, Bingqian Liu, Christina Zeitz, Saddek Mohand-Said, José-Alain Sahel, Isabelle Audo, Anne Aubois, Christelle Michiels, Camille Letellier
Publikováno v:
Retina (Philadelphia, Pa.). 41(4)
PURPOSE To reappraise the presentation and the course of ITM2B-related retinal dystrophy and give further insights into ITM2B expression in the retina. METHODS The clinical data of nine subjects with ITM2B-related retinal dystrophy were retrospective
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::113227d8bf5e22831268c9b84931d6ad
https://pubmed.ncbi.nlm.nih.gov/32826790
https://pubmed.ncbi.nlm.nih.gov/32826790