Large Benefit from Simple Things: High-Dose Vitamin A Improves RBP4-Related Retinal Dystrophy

Autor: Vasily M. Smirnov, Baptiste Wilmet, Marco Nassisi, Christel Condroyer, Aline Antonio, Camille Andrieu, Céline Devisme, Serge Sancho, José-Alain Sahel, Christina Zeitz, Isabelle Audo

Inherited retinal diseases (IRD) are a group of heterogeneous disorders, most of which lead to blindness with limited therapeutic options. Pathogenic variants in RBP4, coding for a major blood carrier of retinol, retinol-binding protein 4, are respon

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d454b6199279438e47408778e7e534e9
https://hdl.handle.net/2434/964816

HprSR Is a Reactive Chlorine Species-Sensing, Two-Component System in Escherichia coli

Autor: Sara El Hajj, Camille Henry, Camille Andrieu, Alexandra Vergnes, Laurent Loiseau, Gaël Brasseur, Romain Barré, Laurent Aussel, Benjamin Ezraty

Publikováno v: Journal of Bacteriology
Journal of Bacteriology, 2022, 204 (2), ⟨10.1128/JB.00449-21⟩
J Bacteriol

Two-component systems (TCS) are signaling pathways that allow bacterial cells to sense, respond to, and adapt to fluctuating environments. Among the classical TCS of Escherichia coli, HprSR has recently been shown to be involved in the regulation of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb482e24754598cbeb231592f1a1ed18
https://doi.org/10.1128/jb.00449-21

CHM mutation spectrum and disease: An update at the time of human therapeutic trials

Autor: Barbara Kloeckener-Gruissem, Christina Zeitz, Anne-Françoise Roux, Caroline Laurent-Coriat, Isabelle Meunier, Xavier Zanlonghi, José-Alain Sahel, Helen Frederiksen, Christel Condroyer, Isabelle Audo, Saddek Mohand-Said, Fiona Boyard, Vanessa Démontant, Marco Nassisi, Marie-Elise Lancelot, Camille Andrieu, Said El-Shamieh, Aline Antonio

Publikováno v: Human mutationREFERENCES. 42(4)

Choroideremia is an X-linked inherited retinal disorder (IRD) characterized by the degeneration of retinal pigment epithelium, photoreceptors, choriocapillaris and choroid affecting males with variable phenotypes in female carriers. Unlike other IRD,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e45f1bd7e61a5bd421b97e8004dff5db
https://pubmed.ncbi.nlm.nih.gov/33538369

Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved 'One-Hit' Cohort with Stargardt Disease

Autor: Christel Condroyer, Juliette Wohlschlegel, Juliette Varin, Aline Antonio, Claire-Marie Dhaenens, Cécile Méjécase, Christina Zeitz, José-Alain Sahel, Isabelle Audo, Saddek Mohand-Said, Camille Andrieu, Marco Nassisi

Publikováno v: International Journal of Molecular Sciences
Volume 20
Issue 20
International Journal of Molecular Sciences, Vol 20, Iss 20, p 5053 (2019)
International Journal of Molecular Sciences, 2019, 20 (20), pp.5053. ⟨10.3390/ijms20205053⟩
International Journal of Molecular Sciences, MDPI, 2019, 20 (20), pp.5053. ⟨10.3390/ijms20205053⟩

We investigated the prevalence of reported deep-intronic variants in a French cohort of 70 patients with Stargardt disease harboring a monoallelic pathogenic variant on the exonic regions of ABCA4. Direct Sanger sequencing of selected intronic region

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7d3c0b402b19fd8204aa62724a20aeb
http://europepmc.org/articles/PMC6829239

Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy

Autor: Camille Andrieu, Saddek Mohand-Said, Fiona Boyard, Mélanie Letexier, Aline Antonio, Christina Zeitz, Said El Shamieh, Christel Condroyer, Aurélie Hummel, José-Alain Sahel, Isabelle Audo, Cécile Méjécase, Marine Foussard, Jean-Paul Saraiva, Steven B. Blanchard

Publikováno v: Clinical genetics. 95(2)

Genetic investigations were performed in three brothers from a consanguineous union, the two oldest diagnosed with rod-cone dystrophy (RCD), the youngest with early-onset cone-rod dystrophy and the two youngest with nephrotic-range proteinuria. Targe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb2d11ffb37503515637f8abeeaccad5
https://pubmed.ncbi.nlm.nih.gov/30267408