Publications en rapport avec les thèmes de recherche de l’EA3808

Alaa El Din FPatri SThoreau VRodriguez-Ballesteros M, Hamade E, Bailly S, Gilbert-Dussardier B, Abou Merhi R, Kitzis A. Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia. PLoSOne. 2015 Jul 15;10(7):e0132111. doi: 10.1371/journal.pone.0132111.

Farhat REl-Seedy A, El-Moussaoui K, Pasquet MC, Adolphe C, Bieth E, Languepin J, Sermet-Gaudelus I, Kitzis ALadevèze V. Multi-physiopathological consequences of the c.1392G>T CFTR mutation revealed by clinical and cellular investigations. Biochem Cell Biol. 2015 Feb;93(1):28-37. doi: 10.1139/bcb-2014-0042.

Farhat R, Puissesseau G, El-Seedy A, Pasquet MC, Adolphe C, Corbani S, Megarbané A, Kitzis ALadeveze V. N1303K (c.3909C>G) mutation and splicing: implication of its c.[744-33GATT(6); 869+11C>T] complex allele in CFTR exon 7 aberrant splicing. Biomed Res Int. 2015: 138103. doi: 10.1155/2015/138103.

Ferru-Clément R, Fresquet F, Norez C, Métayé T, Becq F, Kitzis AThoreau V. Involvement of the Cdc42 pathway in CFTR post-translational turnover and in its plasma membrane stability in airway epithelial cells. PLoSOne. 2015 Mar 13;10(3):e0118943. doi: 10.1371/journal.pone.0118943

Julian A, Dugast E, Ragot S, Krolak-Salmon P, Berrut G, Dantoine T, Hommet C, Hanon O, Page GPaccalin M. There is no correlation between peripheral inflammation and cognitive status at diagnosis in Alzheimer’s disease. Aging Clin Exp Res. 2015 Oct;27(5):589-94. doi: 10.1007/s40520-015-0332-5

Noel A, Ingrand S, Barrier L. Inhibition of GSK3β by pharmacological modulation of sphingolipid metabolism occurs independently of ganglioside disturbance in a cellular model of Alzheimer’s disease. Exp Neurol. 2015 Sep; 271:308-18. doi: 10.1016/j.expneurol.2015.06.021.

Sérrière S, Tauber C, Vercouillie J, Mothes C, Pruckner C, Guilloteau D, Kassiou M, Doméné A, Garreau L, Page G*, Chalon S**co-last authors. Amyloid load and translocator protein 18 kDa in APPswePS1-dE9 mice: a longitudinal study. Neurobiol Aging. 2015 Apr;36(4):1639-52. doi: 10.1016/j.neurobiolaging.2014.11.023.

Autres publications

Alby C, Piquand K, Huber C, Megarbané A, Ichkou A, Legendre M, Pelluard F, Encha-Ravazi F, Abi-Tayeh G, Bessières B, El Chehadeh-Djebbar S, Laurent N, Faivre L, Sztriha L, Zombor M, Szabó H, Failler M, Garfa-Traore M, Bole C, Nitschké P, Nizon M, Elkhartoufi N, Clerget-Darpoux F, Munnich A, Lyonnet S, Vekemans M, Saunier S, Cormier-Daire V, Attié-Bitach T, Thomas S. Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. Am J Hum Genet. 2015 Aug 6;97(2):311-8. doi: 10.1016/j.ajhg.2015.06.003.

Angleman SB, Santoni G, Pilotto A, Fratiglioni L, Welmer AK; MPI_AGE Project Investigators. Multidimensional Prognostic Index in Association with Future Mortality and Number of Hospital Days in a Population-Based Sample of Older Adults: Results of the EU Funded MPI_AGE Project. PLoS One. 2015 Jul 29;10(7):e0133789. doi: 10.1371/journal.pone.0133789.

Azzopardi N, Dupuis-Girod S, Ternant D, Fargeton AE, Ginon I, Faure F, Decullier E, Roux A, Carette MF, Gilbert-Dussardier B, Hatron PY, Lacombe P, Leguy-Seguin V, Rivière S, Corre R, Bailly S, Paintaud G. Dose – response relationship of bevacizumab in hereditary hemorrhagic telangiectasia. MAbs. 2015;7(3):630-7. doi: 10.1080/19420862.2015.1022693

Benusiglio PR, Couvé S, Gilbert-Dussardier B, Deveaux S, Le Jeune H, Da Costa M, Fromont G, Memeteau F, Yacoub M, Coupier I, Leroux D, Méjean A, Escudier B, Giraud S, Gimenez-Roqueplo AP, Blondel C, Frouin E, Teh BT, Ferlicot S, Bressac-de Paillerets B, Richard S, Gad S. A germline mutation in PBRM1 predisposes to renal cell carcinoma. J Med Genet. 2015 Jun;52(6):426-30. doi: 10.1136/jmedgenet-2014-102912.

Blein C, Gavazzi G, Paccalin M, Baptiste C, Berrut G, Vainchtock A. Burden of herpes zoster: the direct and comorbidity costs of herpes zoster events in hospitalized patients over 50 years in France. BMC Infect Dis. 2015 Aug 19;15:350. doi: 10.1186/s12879-015-1059-9.

Canivet A, Albinet CT, André N, Pylouster J, Rodríguez-Ballesteros MKitzis A, Audiffren M. Effects of BDNF polymorphism and physical activity on episodic memory in the elderly: a cross sectional study. European Review of Aging and Physical Activity. 2015; (12:15). doi 10.1186/s11556-015-0159-2

Doucet JA, Bauduceau B, Le Floch JP, Verny C; SFD/SFGG Intergroup. Medical treatments of elderly, French patients with type 2 diabetes: results at inclusion in the GERODIAB Cohort. Fundam Clin Pharmacol. 2015 Oct 19. doi: 10.1111/fcp.12160

Forestier E, Paccalin M, Roubaud-Baudron C, Fraisse T, Gavazzi G, Gaillat J. Subcutaneously administered antibiotics: a national survey of current practice from the French Infectious Diseases (SPILF) and Geriatric Medicine (SFGG) society networks. Clin Microbiol Infect. 2015 Apr;21(4):370.e1-3. doi: 10.1016/j.cmi.2014.11.017.

Guérin A, Bureau ML, Ghazali N, Gervais R, Liuu E, Seité F, Bellarbre F, Ingrand P, Paccalin M. Factors associated with orthostatic hypotension in hospitalized elderly patients. Aging Clin Exp Res. 2015 Oct 19.

Hyon C, Chantot-Bastaraud S, Harbuz R, Bhouri R, Perrot N, Peycelon M, Sibony M, Rojo S, Piguel X, Bilan FGilbert-Dussardier BKitzis A, McElreavey K, Siffroi JP, Bashamboo A. Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD). Am J Med Genet A. 2015 Aug;167A(8):1851-8. doi: 10.1002/ajmg.a.37101.

Kesse-Guyot E, Andreeva VA, Touvier M, Jeandel C, Ferry M, Hercberg S, Galan P; SU.VI.MAX 2 Research Group. Overall and abdominal adiposity in midlife and subsequent cognitive function. J Nutr Health Aging. 2015 Feb;19(2):183-9. doi: 10.1007/s12603-014-0508-2.

Lefebvre M, Sanlaville D, Marle N, Thauvin-Robinet C, Gautier E, El Chehadeh S, Mosca-Boidron AL, Thevenon J, Edery P, Alex-Cordier MP, Till M, Lyonnet S, Cormier-Daire V, Amiel J, Philippe A, Romana S, Malan V, Afenjar A, Marlin S, Chantot-Bastaraud S, Bitoun P, Heron B, Piparas E, Morice-Picard F, Moutton S, Chassaing N, Vigouroux-Castera A, Lespinasse J, Manouvrier-Hanu S, Boute-Benejean O, Vincent-Delorme C, Petit F, Le Meur N, Marti-Dramard M, Guerrot AM, Goldenberg A, Redon S, Ferrec C, Odent S, Le Caignec C, Mercier S, Gilbert-Dussardier B, Toutain A, Arpin S, Blesson S, Mortemousque I, Schaefer E, Martin D, Philip N, Sigaudy S, Busa T, Missirian C, Giuliano F, Benailly HK, Van Kien PK, Leheup B, Benneteau C, Lambert L, Caumes R, Kuentz P, François I, Heron D, Keren B, Cretin E, Callier P, Julia S, Faivre L. Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: A 7-year national survey. Clin Genet. 2015 Nov 19.

Lupiáñez DG, Kraft K, Heinrich V, Krawitz P, Brancati F, Klopocki E, Horn D, Kayserili H, Opitz JM, Laxova R, Santos-Simarro F, Gilbert-Dussardier B, Wittler L, Borschiwer M, Haas SA, Osterwalder M, Franke M, Timmermann B, Hecht J, Spielmann M, Visel A, Mundlos S. Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions. Cell. 2015 May 21;161(5):1012-25.

Mansour-Hendili L, Blanchard A, Le Pottier N, Roncelin I, Lourdel S, Treard C, González W, Vergara-Jaque A, Morin G, Colin E, Holder-Espinasse M, Bacchetta J, Baudouin V, Benoit S, Bérard E, Bourdat-Michel G, Bouchireb K, Burtey S, Cailliez M, Cardon G, Cartery C, Champion G, Chauveau D, Cochat P, Dahan K, De la Faille R, Debray FG, Dehoux L, Deschenes G, Desport E, Devuyst O, Dieguez S, Emma F, Fischbach M, Fouque D, Fourcade J, François H, Gilbert-Dussardier B, Hannedouche T, Houillier P, Izzedine H, Janner M, Karras A, Knebelmann B, Lavocat MP, Lemoine S, Leroy V, Loirat C, Macher MA, Martin-Coignard D, Morin D, Niaudet P, Nivet H, Nobili F, Novo R, Faivre L, Rigothier C, Roussey-Kesler G, Salomon R, Schleich A, Sellier-Leclerc AL, Soulami K, Tiple A, Ulinski T, Vanhille P, Van Regemorter N, Jeunemaître X, Vargas-Poussou R. Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1. Hum Mutat. 2015 Aug;36(8):743-52.

Migliavacca E, Golzio C, Männik K, Blumenthal I, Oh EC, Harewood L, Kosmicki JA, Loviglio MN, Giannuzzi G, Hippolyte L, Maillard AM, Alfaiz AA; 16p11.2 European Consortium, van Haelst MM, Andrieux J, Gusella JF, Daly MJ, Beckmann JS, Jacquemont S, Talkowski ME, Katsanis N, Reymond A. A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. Am J Hum Genet. 2015 May 7;96(5):784-96.

Pambrun T, Bortone A, Bois P, Degand B, Patri S, Mercier A, Chahine M, Chatelier A, Coisne D, Amiel A. Unmasked Brugada pattern by ajmaline challenge in patients with myotonic dystrophy type 1. Ann Noninvasive Electrocardiol. 2015 Jan;20(1):28-36.

Pilotto A, Panza F, Copetti M, Simonato M, Sancarlo D, Gallina P, Strandberg T; MPI_AGE Project Investigators. Statin Treatment and Mortality in Community-Dwelling Frail Older Patients with Diabetes Mellitus: A Retrospective Observational Study. PLoS One. 2015 Jun 25;10(6):e0130946. doi: 10.1371/journal.pone.0130946.

Pineau A, Fauconneau B, Marrauld A, Lebeau A, Hankard R, Guillard O. Optimisation of direct copper determination in human breast milk without digestion by Zeeman graphite furnace atomic absorption apectrophotometry with two chemical modifiers. Biol Trace Elem Res. 2015, 166 (2):119-22.

Plouzeau C, Bémer P, Valentin AS, Héry-Arnaud G, Tandé D, Jolivet-Gougeon A, Vincent P, Kempf M, Lemarié C, Guinard J, Bret L, Cognée AS, Gibaud S, Burucoa C, Corvec S; Centre de Référence des Infections Ostéo-articulaires du Grand Ouest (CRIOGO) Study Team. First experience of a multicenter external quality assessment of molecular 16S rRNA gene detection in bone and joint infections. J Clin Microbiol. 2015 Feb;53(2):419-24.

Vanlerberghe C, Petit F, Malan V, Vincent-Delorme C, Bouquillon S, Boute O, Holder-Espinasse M, Delobel B, Duban B, Vallee L, Cuisset JM, Lemaitre MP, Vantyghem MC, Pigeyre M, Lanco-Dosen S, Plessis G, Gerard M, Decamp M, Mathieu M, Morin G, Jedraszak G, Bilan FGilbert-Dussardier B, Fauvert D, Roume J, Cormier-Daire V, Caumes R, Puechberty J, Genevieve D, Sarda P, Pinson L, Blanchet P, Lemeur N, Sheth F, Manouvrier-Hanu S, Andrieux J. 15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients. Eur J Med Genet. 2015 Mar;58(3):140-7.