Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Sophie Javerzat"'
Autor:
Modibo Diallo, Cécile Courdier, Elina Mercier, Angèle Sequeira, Alicia Defay-Stinat, Claudio Plaisant, Shahram Mesdaghi, Daniel Rigden, Sophie Javerzat, Eulalie Lasseaux, Laetitia Bourgeade, Séverine Audebert-Bellanger, Hélène Dollfus, Smail Hadj-Rabia, Fanny Morice-Picard, Manon Philibert, Mohamed Kole Sidibé, Vasily Smirnov, Ousmane Sylla, Vincent Michaud, Benoit Arveiler
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 16, p 8657 (2024)
Albinism is a genetically heterogeneous disease in which 21 genes are known so far. Its inheritance mode is autosomal recessive except for one X-linked form. The molecular analysis of exonic sequences of these genes allows for about a 70% diagnostic
Externí odkaz:
https://doaj.org/article/dcc5dff4ddd3427182d939adf32a6058
Autor:
Sophie Javerzat, Mélanie Franco, John Herbert, Natalia Platonova, Anne-Lise Peille, Véronique Pantesco, John De Vos, Said Assou, Roy Bicknell, Andreas Bikfalvi, Martin Hagedorn
Publikováno v:
PLoS ONE, Vol 5, Iss 3 (2010)
Externí odkaz:
https://doaj.org/article/7dc9169fea3e4fafb8b709cc628b8d5a
Autor:
Sophie Javerzat, Mélanie Franco, John Herbert, Natalia Platonova, Anne-Lise Peille, Véronique Pantesco, John De Vos, Said Assou, Roy Bicknell, Andreas Bikfalvi, Martin Hagedorn
Publikováno v:
PLoS ONE, Vol 4, Iss 11, p e7856 (2009)
BACKGROUND: Formation of blood vessels requires the concerted regulation of an unknown number of genes in a spatial-, time- and dosage-dependent manner. Determining genes, which drive vascular maturation is crucial for the identification of new thera
Externí odkaz:
https://doaj.org/article/65570f69cc7e44a881f7f49b7a9b966e
Autor:
Angèle Tingaud-Sequeira, Elina Mercier, Vincent Michaud, Benoît Pinson, Ivet Gazova, Etienne Gontier, Fanny Decoeur, Lisa McKie, Ian J. Jackson, Benoît Arveiler, Sophie Javerzat
We have recently identified DCT encoding dopachrome tautomerase (DCT) as the 8th gene for oculocutaneous albinism (OCA). Patients with loss of function of DCT suffer from eye hypopigmentation and retinal dystrophy. Here we investigate the eye phenoty
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::68eb31d70b15f4cce6f4e4cad63ba2f4
https://doi.org/10.1101/2022.05.25.493436
https://doi.org/10.1101/2022.05.25.493436
Autor:
Angèle, Tingaud-Sequeira, Elina, Mercier, Vincent, Michaud, Benoît, Pinson, Ivet, Gazova, Etienne, Gontier, Fanny, Decoeur, Lisa, McKie, Ian J, Jackson, Benoît, Arveiler, Sophie, Javerzat
Publikováno v:
Genes. 13(7)
We have recently identified
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:
Abiodun Ogunleke, Benoit Recur, Maylis Delugin, Yeukuang Hwu, Sophie Javerzat, Hugo Balacey, Cyril Petibois, Hsiang-Hsin Chen
Publikováno v:
Chemical Science
Here, we introduce a unique high-throughput infrared (IR) microscopy method that combines automated image correction and subsequent spectral data analysis for 3D-IR image reconstruction.
Three-dimensional (3D) histology is the next frontier for
Three-dimensional (3D) histology is the next frontier for
Publikováno v:
TrAC Trends in Analytical Chemistry. 82:443-456
Analytical techniques allowed describing the morphology of fossils, up the 3D level, and more recently, molecular remains are also characterized to understand evolutionary aspects of disappeared species. The preservation of original organic component
Autor:
Maylis Delugin, Yao Seydou, Satarupa Banerjee, Sophie Javerzat, Cyril Petibois, Vladimir Bobroff, Razia Noreen, Jyotirmoy Chatterjee, Hsiang-Hsin Chen, Raphael Pineau
Publikováno v:
Acta Physica Polonica A. 129:255-259
Autor:
Hsiang-Hsin Chen, Yeukuang Hwu, Razia Noreen, Cyril Petibois, Michel Moenner, Chia-Chi Chien, Vladimir Bobroff, Sophie Javerzat
Publikováno v:
Analytical and Bioanalytical Chemistry. 405:8729-8736
Evidence has recently emerged that solid and diffuse tumors produce a specific extracellular matrix (ECM) for division and diffusion, also developing a specific interface with microvasculature. This ECM is mainly composed of collagens and their scaff