Zobrazeno 1 - 10
of 456
pro vyhledávání: '"Josseline, Kaplan"'
Autor:
Andrea Zanetti, Gwendal Dujardin, Lucas Fares-Taie, Jeanne Amiel, Jérôme E. Roger, Isabelle Audo, Matthieu P. Robert, Pierre David, Vincent Jung, Nicolas Goudin, Ida Chiara Guerrera, Stéphanie Moriceau, Danielle Amana, Nurit Assia Batzir, Anat Bachar-Zipori, Lina Basel Salmon, Nathalie Boddaert, Sylvain Briault, Ange-Line Bruel, Christine Costet-Fighiera, Luisa Coutinho Santos, Cyril Gitiaux, Karolina Kaminska, Paul Kuentz, Naama Orenstein, Nicole Philip-Sarles, Morgane Plutino, Mathieu Quinodoz, Cristina Santos, Sabine Sigaudy, Mariana Soeiro e Sá, Efrat Sofrin, Ana Berta Sousa, Rui Sousa-Luis, Christel Thauvin-Robinet, Erwin L. van Dijk, Khaoula Zaafrane-Khachnaoui, Dinah Zur, Josseline Kaplan, Carlo Rivolta, Jean-Michel Rozet, Isabelle Perrault
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Abstract Here we conduct a study involving 12 individuals with retinal dystrophy, neurological impairment, and skeletal abnormalities, with special focus on GPATCH11, a lesser-known G-patch domain-containing protein, regulator of RNA metabolism. To e
Externí odkaz:
https://doaj.org/article/ea2180d6616342c0a12f6aeb64c93bba
Autor:
Sylvie Gerber, Lola Lessard, Cécile Rouzier, Samira Ait‐el‐Mkadem Saadi, Roxana Ameli, Stéphane Thobois, Lucie Abouaf, Françoise Bouhour, Josseline Kaplan, Audrey Putoux, Antoine Pegat, Jean‐Michel Rozet
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 8, Pp 1-6 (2023)
Graphical Abstract Gerber et al report 2 autosomal recessive pathogenic Misato homolog 1 (MSTO1) variants causing hereditary optic atrophy and raise concerns about a previously identified dominant variant of MSTO1 by Gal et al (2017).
Externí odkaz:
https://doaj.org/article/0a7e7570d3ec48889ab6d74d61b6f5a7
Autor:
Guy Lenaers, Cléis Beaulieu, Majida Charif, Sylvie Gerber, Josseline Kaplan, Jean-Michel Rozet
Publikováno v:
Brain.
Leber hereditary optic neuropathy (LHON) is a primary inherited neurodegenerative disorder of the optic nerve. It has been ascribed to variants in the mitochondrial genome, mainly the m.3460G>A, m.11778G>A and m.14484T>C mutations in ND1, ND4 and ND6
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::64cacaa0d18b299552baad16ac681a52
https://doi.org/10.1093/brain/awad131
https://doi.org/10.1093/brain/awad131
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients
Autor:
Bertrand Chesneau, Marion Aubert‐Mucca, Félix Fremont, Jacmine Pechmeja, Vincent Soler, Bertrand Isidor, Mathilde Nizon, Hélène Dollfus, Josseline Kaplan, Lucas Fares‐Taie, Jean‐Michel Rozet, Tiffany Busa, Didier Lacombe, Sophie Naudion, Jeanne Amiel, Marlène Rio, Tania Attie‐Bitach, Cécile Lesage, Dominique Thouvenin, Sylvie Odent, Godelieve Morel, Catherine Vincent‐Delorme, Odile Boute, Clémence Vanlerberghe, Anne Dieux, Simon Boussion, Laurence Faivre, Lucile Pinson, Fanny Laffargue, Gwenaël Le Guyader, Guylène Le Meur, Fabienne Prieur, Victor Lambert, Beatrice Laudier, Edouard Cottereau, Carmen Ayuso, Marta Corton‐Pérez, Laurence Bouneau, Cédric Le Caignec, Véronique Gaston, Claire Jeanton‐Scaramouche, Delphine Dupin‐Deguine, Patrick Calvas, Nicolas Chassaing, Julie Plaisancié
Publikováno v:
Clinical Genetics
Clinical Genetics, 2022, 101 (5-6), pp.494-506. ⟨10.1111/cge.14123⟩
Clinical Genetics, 2022, 101 (5-6), pp.494-506. ⟨10.1111/cge.14123⟩
International audience; Peters' anomaly (PA) is a rare anterior segment dysgenesis characterized by central corneal opacity and irido-lenticulo-corneal adhesions. Several genes are involved in syndromic or isolated PA (B3GLCT, PAX6, PITX3, FOXE3, CYP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd8f228d182dcdaf9574a488ec5c1bc7
https://doi.org/10.1111/cge.14123
https://doi.org/10.1111/cge.14123
Autor:
Julie Pernin-Grandjean, Sébastien Marchasson, Marion Aubert-Mucca, Nicolas Chassaing, Sabine Sigaudy, Christophe Habib, Pierre Bitoun, Olivier Roche, Danièle Denis, Julie Plaisancié, Isabelle Meunier, Josseline Kaplan, V. Gaston, Alain Verloes, Patrick Calvas, Damien Haye
Publikováno v:
Eur J Hum Genet
Defects in optic fissure closure can lead to congenital ocular coloboma. This ocular malformation, often associated with microphthalmia, is described in various clinical forms with different inheritance patterns and genetic heterogeneity. In recent t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92195d98216a827316379ba9066a8bc2
https://doi.org/10.1038/s41431-020-0695-8
https://doi.org/10.1038/s41431-020-0695-8
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 4, Iss C (2015)
Leber congenital amaurosis is a severe hereditary retinal dystrophy responsible for neonatal blindness. The most common disease-causing mutation (c.2991+1655A>G; 10–15%) creates a strong splice donor site that leads to insertion of a cryptic exon e
Externí odkaz:
https://doaj.org/article/779dc79240cf4246a7e9476f563372ff
Publikováno v:
Genes, Vol 12, Iss 521, p 521 (2021)
Genes
Genes, MDPI, 2021, 12 (4), pp.521. ⟨10.3390/genes12040521⟩
Genes, 2021, 12 (4), pp.521. ⟨10.3390/genes12040521⟩
Genes
Genes, MDPI, 2021, 12 (4), pp.521. ⟨10.3390/genes12040521⟩
Genes, 2021, 12 (4), pp.521. ⟨10.3390/genes12040521⟩
Pathological variants in the nuclear malonyl-CoA-acyl carrier protein transacylase (MCAT) gene, which encodes a mitochondrial protein involved in fatty-acid biogenesis, have been reported in two siblings from China affected by insidious optic nerve d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3599638db27924ce934602e6ed8816b4
https://www.mdpi.com/2073-4425/12/4/521
https://www.mdpi.com/2073-4425/12/4/521
Autor:
Yulya S. Itkis, Maja Hempel, Ben Pode-Shakked, Piero Barboni, N.L. Sheremet, Polina G. Tsygankova, Riccardo Berutti, Valerio Carelli, Chiara La Morgia, Daniele Ghezzi, Leonardo Caporali, Jean-Michel Rozet, Natalia A. Andreeva, Amelie T van der Ven, Peter Charbel Issa, Wolfram S. Kunz, Sarah L. Stenton, Claudia B. Catarino, Johannes A. Mayr, Matias Wagner, Maria Lucia Cascavilla, Flavia Palombo, Reka Kovacs-Nagy, Ilka Wittig, Alessandra Maresca, Pedro Felipe Malacarne, Thomas Klopstock, Costanza Lamperti, Sylvie Gerber, Cornelia Kornblum, Holger Prokisch, Nino V. Zhorzholadze, Jana Meisterknecht, Robert Kopajtich, Tatiana A. Nevinitsyna, Ekaterina Zakharova, Michele Carbonelli, Tatiana D. Krylova, Michal Tzadok, Elisabeth Graf, Zahra Assouline, Francesca Tagliavini, Josseline Kaplan, Maria S. Shmelkova, Mariantonietta Capristo, Elise Héon, Ortal Barel, Peter Freisinger, Elisheva Javasky, Igor Bychkov, Christina Ludwig, Tim M. Strom, Catherine Vignal-Clermont, Juliana Heidler
Publikováno v:
The journal of clinical investigation 131(6), e138267 (2021). doi:10.1172/JCI138267
J Clin Invest
J Clin Invest
Leber's hereditary optic neuropathy (LHON) is the most frequent mitochondrial disease and was the first to be genetically defined by a point mutation in mitochondrial DNA (mtDNA). A molecular diagnosis is achieved in up to 95% of cases, the vast majo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24bf545cda9fb173a8ffc9ec90e829e6
https://doi.org/10.1172/jci138267
https://doi.org/10.1172/jci138267
Autor:
Vincent Michaud, Ian J. Jackson, Angèle Tingaud-Sequeira, Margaret A. Keighren, Didier Lacombe, Souad Gherbi Halem, Josseline Kaplan, Perrine Pennamen, Sandrine Marlin, Lisa McKie, Benoit Arveiler, Sophie Javerzat, Eulalie Lasseaux, Cédric Delevoye, Iveta Gazova, Claudio Plaisant
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2021, 23 (3), pp.479-487. ⟨10.1038/s41436-020-00997-8⟩
Pennamen, P, Tingaud-Sequeira, A, Gazova, I, Keighren, M, McKie, L, Marlin, S, Halem, S G, Kaplan, J, Delevoye, C, Lacombe, D, Plaisant, C, Michaud, V, Lasseaux, E, Javerzat, S, Jackson, I J & Arveiler, B 2021, ' Dopachrome tautomerase variants in patients with oculocutaneous albinism ', Genetics in Medicine . https://doi.org/10.1038/s41436-020-00997-8
Genetics in Medicine, 2021, 23 (3), pp.479-487. ⟨10.1038/s41436-020-00997-8⟩
Genetics in Medicine, Nature Publishing Group, 2021, 23 (3), pp.479-487. ⟨10.1038/s41436-020-00997-8⟩
Pennamen, P, Tingaud-Sequeira, A, Gazova, I, Keighren, M, McKie, L, Marlin, S, Halem, S G, Kaplan, J, Delevoye, C, Lacombe, D, Plaisant, C, Michaud, V, Lasseaux, E, Javerzat, S, Jackson, I J & Arveiler, B 2021, ' Dopachrome tautomerase variants in patients with oculocutaneous albinism ', Genetics in Medicine . https://doi.org/10.1038/s41436-020-00997-8
Genetics in Medicine, 2021, 23 (3), pp.479-487. ⟨10.1038/s41436-020-00997-8⟩
PurposeAlbinism is a clinically and genetically heterogeneous condition. Despite analysis of the nineteen known genes, ∼30% patients remain unsolved. We aimed to identify new genes involved in albinism.MethodsWe sequenced a panel of genes with know
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49a3fe751ab686323328c7a3650c2c5f
https://hal.archives-ouvertes.fr/hal-03404561
https://hal.archives-ouvertes.fr/hal-03404561
Autor:
Isabelle Perrault, Alejandro Estrada-Cuzcano, Irma Lopez, Susanne Kohl, Shiqiang Li, Francesco Testa, Renate Zekveld-Vroon, Xia Wang, Esther Pomares, Jean Andorf, Nisrine Aboussair, Sandro Banfi, Nathalie Delphin, Anneke I den Hollander, Catherine Edelson, Ralph Florijn, Marc Jean-Pierre, Corinne Leowski, Andre Megarbane, Cristina Villanueva, Blanca Flores, Arnold Munnich, Huanan Ren, Ditta Zobor, Arthur Bergen, Rui Chen, Frans P M Cremers, Roser Gonzalez-Duarte, Robert K Koenekoop, Francesca Simonelli, Edwin Stone, Bernd Wissinger, Qingjiong Zhang, Josseline Kaplan, Jean-Michel Rozet
Publikováno v:
PLoS ONE, Vol 8, Iss 1, p e51622 (2013)
Leber congenital amaurosis (LCA) is the earliest and most severe retinal degeneration (RD), and the most common cause of incurable blindness diagnosed in children. It is occasionally the presenting symptom of multisystemic ciliopathies which diagnosi
Externí odkaz:
https://doaj.org/article/29dac93162e44f828a2d726fc0dc1501