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Page 1
A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.
Carapito R, Paul N, Untrau M, Le Gentil M, Ott L, Alsaleh G, Jochem P, Radosavljevic M, Le Caignec C, David A, Damier P, Isidor B, Bahram S. Carapito R, et al. Among authors: le gentil m. Mov Disord. 2015 Mar;30(3):423-7. doi: 10.1002/mds.26115. Epub 2014 Dec 27. Mov Disord. 2015. PMID: 25545163
IMPORTANCE: Apart from Huntington's disease, little is known of the genetics of autosomal dominant chorea associated with dystonia. ...CONCLUSIONS AND RELEVANCE: Our finding confirms the genetic/clinical heterogeneity of the disorder; corroborated by previous identificatio …
IMPORTANCE: Apart from Huntington's disease, little is known of the genetics of autosomal dominant chorea associated with dystonia. . …
Constitutive autophagy contributes to resistance to TP53-mediated apoptosis in Epstein-Barr virus-positive latency III B-cell lymphoproliferations.
Pujals A, Favre L, Pioche-Durieu C, Robert A, Meurice G, Le Gentil M, Chelouah S, Martin-Garcia N, Le Cam E, Guettier C, Raphaël M, Vassilev LT, Gaulard P, Codogno P, Lipinski M, Wiels J. Pujals A, et al. Among authors: le gentil m. Autophagy. 2015;11(12):2275-87. doi: 10.1080/15548627.2015.1115939. Autophagy. 2015. PMID: 26565591 Free PMC article.
Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.
Couvé S, Ladroue C, Laine E, Mahtouk K, Guégan J, Gad S, Le Jeune H, Le Gentil M, Nuel G, Kim WY, Lecomte B, Pagès JC, Collin C, Lasne F, Benusiglio PR, Bressac-de Paillerets B, Feunteun J, Lazar V, Gimenez-Roqueplo AP, Mazure NM, Dessen P, Tchertanov L, Mole DR, Kaelin W, Ratcliffe P, Richard S, Gardie B. Couvé S, et al. Among authors: le gentil m. Cancer Res. 2014 Nov 15;74(22):6554-64. doi: 10.1158/0008-5472.CAN-14-1161. Epub 2014 Nov 4. Cancer Res. 2014. PMID: 25371412 Free PMC article.
Polymorphisms in EGFR and IL28B are associated with spontaneous clearance in an HCV-infected Iranian population.
Carapito R, Poustchi H, Kwemou M, Untrau M, Sharifi AH, Merat S, Haj-Sheykholeslami A, Jabbari H, Esmaili S, Michel S, Toussaint J, Le Gentil M, Ansari-Moghaddam A, Radosavljevic M, Etemadi A, Georgel P, Malekzadeh R, Bahram S. Carapito R, et al. Among authors: le gentil m. Genes Immun. 2015 Dec;16(8):514-8. doi: 10.1038/gene.2015.38. Epub 2015 Sep 17. Genes Immun. 2015. PMID: 26378651
On the genetics of the Silk Route: association analysis of HLA, IL10, and IL23R-IL12RB2 regions with Behcet's disease in an Iranian population.
Carapito R, Shahram F, Michel S, Le Gentil M, Radosavljevic M, Meguro A, Abdollahi BS, Inoko H, Ota M, Davatchi F, Bahram S. Carapito R, et al. Among authors: le gentil m. Immunogenetics. 2015 Jun;67(5-6):289-93. doi: 10.1007/s00251-015-0841-6. Epub 2015 May 5. Immunogenetics. 2015. PMID: 25940109
Despite that the association of Behcet's disease (BD) with the HLA-B5 was first established in the 1970s, a number of recent genome-wide association studies have both confirmed and furthered this association--in various populations--to individual SNPs both inside and outsi …
Despite that the association of Behcet's disease (BD) with the HLA-B5 was first established in the 1970s, a number of recent genome-w …