Zobrazeno 1 - 10 of 26 pro vyhledávání: '"Audrey, Sénéchal"'
1
Akademický článek
TMEM187-IRAK1 Polymorphisms Associated with Rheumatoid Arthritis Susceptibility in Tunisian and French Female Populations: Influence of Geographic Origin
Autor: Olfa Khalifa, Nathalie Balandraud, Nathalie Lambert, Isabelle Auger, Jean Roudier, Audrey Sénéchal, David Geneviève, Christophe Picard, Gérard Lefranc, Isabelle Touitou, Bakridine M’Madi Mrenda, Cécilia Benedito, Etienne Pardoux, Anne-Laure Gagez, Yves-Marie Pers, Christian Jorgensen, Touhami Mahjoub, Florence Apparailly
Publikováno v: Journal of Immunology Research, Vol 2017 (2017)
Polymorphisms have been identified in the Xq28 locus as risk loci for rheumatoid arthritis (RA). Here, we investigated the association between three polymorphisms in the Xq28 region containing TMEM187 and IRAK1 (rs13397, rs1059703, and rs1059702) in
Externí odkaz: https://doaj.org/article/2fd7c867d9ba4c1dbc4efbaff8e6066f
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2
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa
Autor: Guylène Le Meur, Susanne Roosing, Panagiotis I. Sergouniotis, Marta Corton, Sandro Banfi, Graeme C.M. Black, Ivan Conte, Hélène Naacke, Carmen Ayuso, Christian Hamel, Almudena Avila-Fernandez, Agnès Muller, Guillaume Olivier, Daniela Intartaglia, Claire-Marie Dhaenens, Gaël Manes, Sanne K Verbakel, Jeroen Klevering, Isabelle Meunier, Béatrice Bocquet, Carel B. Hoyng, Agathe Roubertie, Audrey Sénéchal, Xavier Zanlonghi
Publikováno v: Journal of Medical Genetics
Journal of Medical Genetics, 2021, 58 (8), pp.570-578. ⟨10.1136/jmedgenet-2020-107150⟩
Journal of Medical Genetics, 58, 570-578
Journal of Medical Genetics, 58, 8, pp. 570-578
BackgroundInherited retinal disorders are a clinically and genetically heterogeneous group of conditions and a major cause of visual impairment. Common disease subtypes include vitelliform macular dystrophy (VMD) and retinitis pigmentosa (RP). Despit
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c418790cf0e92ff05817a63ae7d81a9
https://hal.science/hal-03652615
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3
Akademický článek
A truncated form of rod photoreceptor PDE6 β-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit.
Autor: Gaël Manes, Pallavi Cheguru, Anurima Majumder, Béatrice Bocquet, Audrey Sénéchal, Nikolai O Artemyev, Christian P Hamel, Philippe Brabet
Publikováno v: PLoS ONE, Vol 9, Iss 4, p e95768 (2014)
Autosomal dominant congenital stationary night blindness (adCSNB) is caused by mutations in three genes of the rod phototransduction cascade, rhodopsin (RHO), transducin α-subunit (GNAT1), and cGMP phosphodiesterase type 6 β-subunit (PDE6B). In mos
Externí odkaz: https://doaj.org/article/7f003c8183e14ddb951cea4178a6b4b4
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4
Pathogenic variants in
Autor: Guillaume, Olivier, Marta, Corton, Daniela, Intartaglia, Sanne K, Verbakel, Panagiotis I, Sergouniotis, Guylène, Le Meur, Claire-Marie, Dhaenens, Hélène, Naacke, Almudena, Avila-Fernández, Carel B, Hoyng, Jeroen, Klevering, Béatrice, Bocquet, Agathe, Roubertie, Audrey, Sénéchal, Sandro, Banfi, Agnès, Muller, Christian L, Hamel, Graeme C, Black, Ivan, Conte, Susanne, Roosing, Xavier, Zanlonghi, Carmen, Ayuso, Isabelle, Meunier, Gaël, Manes
Publikováno v: Journal of medical genetics. 58(8)
Inherited retinal disorders are a clinically and genetically heterogeneous group of conditions and a major cause of visual impairment. Common disease subtypes include vitelliform macular dystrophy (VMD) and retinitis pigmentosa (RP). Despite the iden
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::73025084a8fb24e90601192c13098ddc
https://pubmed.ncbi.nlm.nih.gov/32817297
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5
Spectrum of Pulmonary Aspergillosis in Hyper-IgE Syndrome with Autosomal-Dominant STAT3 Deficiency
Autor: François Danion, Marie-Elisabeth Bougnoux, C. Pison, L. Grandiere-Perez, Fanny Lanternier, Claire Fieschi, H. Coignard, Grégory Jouvion, F. Botterel-Chartier, Florence Ader, Marie Olivia Chansdesris, Claire Givel, A. Duréault, Dea Garcia-Hermoso, Nizar Mahlaoui, L. Wemeau, Capucine Picard, Antoine Deschildre, Martin Castelle, Karima Amazzough, Felipe Suarez, Alexandre Alanio, Sylvain Poirée, C. Menetrey, Pierre Tattevin, Audrey Sénéchal, Stéphane Blanche, Olivier Lortholary, Marjorie Cornu, Emilie Catherinot, J.F. Bervar, Boualem Sendid, Colas Tcherakian
Publikováno v: Journal of Allergy and Clinical Immunology: In Practice
Journal of Allergy and Clinical Immunology: In Practice, Elsevier, 2019, 7, pp.1986-1995.e3. ⟨10.1016/j.jaip.2019.02.041⟩
Journal of Allergy and Clinical Immunology: In Practice, 2019, 7, pp.1986-1995.e3. ⟨10.1016/j.jaip.2019.02.041⟩
International audience; Background: Autosomal-dominant signal transducer and activator of transcription 3 (STAT3) deficiency predisposes to recurrent bacterial pneumonia, complicated by bronchiectasis and cavitations. Aspergillosis is a major cause o
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f09dd31c69db9cbf8998bd6dd1d720a6
https://hal.archives-ouvertes.fr/hal-03487994/file/S2213219819302636.pdf
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6
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy
Autor: Cécile Delettre, Gaël Manes, Mélanie Quiles, Guy Lenaers, Marie O. Pequignot, Ulrich Kellner, Béatrice Bocquet, Helmut Wilhelm, Chantal Cazevieille, Audrey Sénéchal, Maria Solà, Fenna Hensen, Bernd Wissinger, Emmanuelle Sarzi, Camille Piro-Mégy, Xavier Zanlonghi, Aleix Tarrés-Solé, David Goudenège, Agathe Roubertie, Nicole Weisschuh, Christian P. Hamel, Majida Charif, Johannes N. Spelbrink, Arka Chakraborty, Agnès Muller
Publikováno v: J Clin Invest
Journal of Clinical Investigation
Journal of Clinical Investigation, American Society for Clinical Investigation, 2019, 130 (1), pp.143-156. ⟨10.1172/JCI128513⟩
Journal of Clinical Investigation, American Society for Clinical Investigation, 2020, 130 (1), pp.143-156. ⟨10.1172/JCI128513⟩
The Journal of Clinical Investigation
Journal of Clinical Investigation, 130, 1, pp. 143-156
Digital.CSIC. Repositorio Institucional del CSIC
instname
Journal of Clinical Investigation, 2019, 130 (1), pp.143-156. ⟨10.1172/JCI128513⟩
Journal of Clinical Investigation, 130, 143-156
© 2020, Piro-Mégy et al.
Mutations in genes encoding components of the mitochondrial DNA (mtDNA) replication machinery cause mtDNA depletion syndromes (MDSs), which associate ocular features with severe neurological syndromes. Here, we identif
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b6a6e3579f08dffaaf3cc8d271ef404
https://pubmed.ncbi.nlm.nih.gov/31738184
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7
02.10 X-linked mirnas associated with gender differences in rheumatoid arthritis
Autor: Yves-Marie Pers, Rosana Ferreira, Florence Apparailly, Audrey Sénéchal, Christian Jorgensen, Isabelle Duroux-Richard, Olfa Khalifa
Publikováno v: New players and novel targets in inflammation.
Aim The majority of auto-immune diseases predominate in females. Rheumatoid arthritis (RA) is one of these diseases for which female are three times more affected than men. MicroRNAs have emerged as crucial regulators of the immune system, and have b
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5c9122e1ce37bcedc23687f5f2c1f753
https://doi.org/10.1136/annrheumdis-2016-211050.10
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8
A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype
Autor: Jose A. Sahel, Gaël Manes, Thomas Guignard, Christina Zeitz, Jean-François Deleuze, Anne Boland, David Geneviève, Béatrice Bocquet, Isabelle Meunier, Chantal Cazevieille, Audrey Sénéchal, Vasily Smirnov, Carl Arndt, Sabine Defoort-Dhellemmes, Sylvie Berthemy, Xavier Zanlonghi, Hélène Blanché-Koch, Willy Joly, Patrick Carroll, Christian P. Hamel, Isabelle Audo
Publikováno v: Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2017, 26 (22), pp.4367--4374. ⟨10.1093/hmg/ddx322⟩
Human Molecular Genetics, 2017, 26 (22), pp.4367--4374. ⟨10.1093/hmg/ddx322⟩
International audience; In this study, we report a novel duplication causing North Carolina macular dystrophy (NCMD) identified applying whole genome sequencing performed on eight affected members of two presumed unrelated families mapping to the MCD
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db923aba4ab9216ed3bee63f515ae637
https://hal.archives-ouvertes.fr/hal-01743907
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9
Mutations in IMPG1 Cause Vitelliform Macular Dystrophies
Autor: Hélène Dollfus, Susanne Kohl, Maxime Hebrard, Philippe Brabet, Isabelle Meunier, Audrey Sénéchal, Elfride De Baere, Carmen Ayuso García, Christina Zeitz, Béatrice Bocquet, Sandro Banfi, Guylène Le Meur, Claire Marie Dhaenens, Delphine Allorge, Frans P.M. Cremers, Francesca Simonelli, Michel Weber, Joe G. Hollyfield, Saddek Mohand-Said, Christian P. Hamel, Gaël Manes, Marta Corton, Xavier Zanlonghi, Robert K. Koenekoop, Gilles Labesse, Almudena Avila-Fernandez, José-Alain Sahel, Isabelle Audo
Publikováno v: American Journal of Human Genetics, 93, 571-8
American Journal of Human Genetics, 93, 3, pp. 571-8
Item does not contain fulltext Vitelliform macular dystrophies (VMD) are inherited retinal dystrophies characterized by yellow, round deposits visible upon fundus examination and encountered in individuals with juvenile Best macular dystrophy (BMD) o
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68bb584fc81f65091f0a6d5aaead782b
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10
X-Linked miRNAs Associated with Gender Differences in Rheumatoid Arthritis
Autor: Duroux-Richard, Olfa Khalifa, Yves-Marie Pers, Rosanna Ferreira, Audrey Sénéchal, Christian Jorgensen, Florence Apparailly, Isabelle
Publikováno v: International Journal of Molecular Sciences; Volume 17; Issue 11; Pages: 1852
Rheumatoid arthritis (RA) is an autoimmune disease that predominantly affects women. MicroRNAs have emerged as crucial regulators of the immune system, whose expression is deregulated in RA. We aimed at quantifying the expression level of 14 miRNAs l
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=multidiscipl::a8bfe8436eae33bfb8a5d833401cd965
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