Les publications issues du projet VaCaRMe

DoEstRare: A statistical test to identify local enrichments in rare genomic variants associated with disease.

Persyn E, Karakachoff M, Le Scouarnec S, Le Clézio C, Campion D, Consortium FE, Schott J-J, Redon R, Bellanger L, Dina C.

PLoS ONE 2017;12:e0179364.

Fine-scale human genetic structure in Western France

Karakachoff M, Duforet-Frebourg N, Simonet F, Le Scouarnec S, Pellen N, Lecointe S, Charpentier E, Gros F, Cauchi S, Froguel P, Copin N, the D.E.S.I.R. Study Group, Le Tourneau T, Probst V, Le Marec H, Molinaro S, Balkau B, Redon R, Schott J-J, Blum MG, Dina C, the D E S I R Study Group. . Eur J Hum Genet 2014;doi:10.1038/ejhg.2014.175.

Understanding the Pathophysiology of Intracranial Aneurysm: The ICAN Project.

Bourcier R, Chatel S, Bourcereau E, Jouan S, Marec HL, Daumas-Duport B, Sevin-Allouet M, Guillon B, Roualdes V, Riem T, Isidor B, Lebranchu P, Connault J, Tourneau TL, Gaignard A, Loirand G, Redon R, Desal H, ICAN Investigators.  

Neurosurgery 2017;80:621–626.

Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia.

Rimbert A, Pichelin M, Lecointe S, Marrec M, Le Scouarnec S, Barrak E, Croyal M, Krempf M, Le Marec H, Redon R, Schott J-J, Magré J, Cariou B.

Atherosclerosis 2016;250:52–56.

Genetic investigations on intracranial aneurysm: update and perspectives.

Bourcier R, Redon R, Desal H.

J Neuroradiol 2015;42:67–71.

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome.

Le Scouarnec S, Karakachoff M, Gourraud J-B, Lindenbaum P, Bonnaud S, Portero V, Duboscq-Bidot L, Daumy X, Simonet F, Teusan R, Baron E, Violleau J, Persyn E, Bellanger L, Barc J, Chatel S, Martins R, Mabo P, Sacher F, Haïssaguerre M, Kyndt F, Schmitt S, Bézieau S, Le Marec H, Dina C, Schott J-J, Probst V, Redon R.

Hum Mol Genet 2015;24:2757–2763.

mod_bio: Apache modules for Next-Generation sequencing data.

Lindenbaum P, Redon R.

Bioinformatics 2015;31:112–113.

Genetic association analyses highlight biological pathways underlying mitral valve prolapse.

Dina C, Bouatia-Naji N, Tucker N, Delling FN, Toomer K, Durst R, Perrocheau M, Fernandez-Friera L, Solis J, PROMESA investigators, Le Tourneau T, Chen M-H, Probst V, Bosse Y, Pibarot P, Zelenika D, Lathrop M, Hercberg S, Roussel R, Benjamin EJ, Bonnet F, Lo SH, Dolmatova E, Simonet F, Lecointe S, Kyndt F, Redon R, Le Marec H, Froguel P, et al.

Nat Genet 2015;47:1206–1211.

Contribution to Alzheimer’s disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls.

Bellenguez C, Charbonnier C, Grenier-Boley B, Quenez O, Le Guennec K, Nicolas G, Chauhan G, Wallon D, Rousseau S, Richard AC, Boland A, Bourque G, Munter HM, Olaso R, Meyer V, Rollin-Sillaire A, Pasquier F, Letenneur L, Redon R, Dartigues J-F, Tzourio C, Frebourg T, Lathrop M, Deleuze J-F, Hannequin D, Genin E, Amouyel P, Debette S, Lambert J-C, et al.

Neurobiol Aging 2017;doi:10.1016/j.neurobiolaging.2017.07.001.

SORL1 rare variants: a major risk factor for familial early-onset Alzheimer’s disease.

Nicolas G, Charbonnier C, Wallon D, Quenez O, Bellenguez C, Grenier-Boley B, Rousseau S, Richard A-C, Rovelet-Lecrux A, Le Guennec K, Bacq D, Garnier J-G, Olaso R, Boland A, Meyer V, Deleuze J-F, Amouyel P, Munter HM, Bourque G, Lathrop M, Frebourg T, Redon R, Letenneur L, Dartigues J-F, Génin E, Lambert J-C, Hannequin D, Campion D, CNR-MAJ collaborators.

Mol Psychiatry 2016;21:831–836.

ABCA7 rare variants and Alzheimer disease risk.

Le Guennec K, Nicolas G, Quenez O, Charbonnier C, Wallon D, Bellenguez C, Grenier-Boley B, Rousseau S, Richard A-C, Rovelet-Lecrux A, Bacq D, Garnier J-G, Olaso R, Boland A, Meyer V, Deleuze J-F, Amouyel P, Munter HM, Bourque G, Lathrop M, Frebourg T, Redon R, Letenneur L, Dartigues J-F, Pasquier F, Rollin-Sillaire A, Génin E, Lambert J-C, Hannequin D, et al.

Neurology 2016;86:2134–2137.

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.

Colin E, Daniel J, Ziegler A, Wakim J, Scrivo A, Haack TB, Khiati S, Denommé A-S, Amati-Bonneau P, Charif M, Procaccio V, Reynier P, Aleck KA, Botto LD, Herper CL, Kaiser CS, Nabbout R, N’Guyen S, Mora-Lorca JA, Assmann B, Christ S, Meitinger T, Strom TM, Prokisch H, FREX Consortium, Miranda-Vizuete A, Hoffmann GF, Lenaers G, Bomont P, et al.

Am J Hum Genet 2016;99:695–703.

Induced Pluripotent Stem (hiPS) Cells from Urine Samples: A Non-Integrative and Feeder-Free Reprogramming Strategy.

Steichen C, Si-Tayeb K, Wulkan F, Crestani T, Rosas G, Dariolli R, Pereira AC, Krieger JE. Human Curr Protoc Hum Genet 2017;92:21.7.1-21.7.22.

Urine-sample-derived human induced pluripotent stem cells as a model to study PCSK9-mediated autosomal dominant hypercholesterolemia.

Si-Tayeb K, Idriss S, Champon B, Caillaud A, Pichelin M, Arnaud L, Lemarchand P, Le May C, Zibara K, Cariou B.  

Dis Model Mech 2016;9:81–90.

HIV-Tat induces a decrease in IKr and IKsvia reduction in phosphatidylinositol-(4,5)-bisphosphate availability.

Es-Salah-Lamoureux Z, Jouni M, Malak OA, Belbachir N, Al Sayed ZR, Gandon-Renard M, Lamirault G, Gauthier C, Baró I, Charpentier F, Zibara K, Lemarchand P, Beaumelle B, Gaborit N, Loussouarn G.

J Mol Cell Cardiol 2016;99:1–13.

Toward Personalized Medicine: Using Cardiomyocytes Differentiated From Urine-Derived Pluripotent Stem Cells to Recapitulate Electrophysiological Characteristics of Type 2 Long QT Syndrome.

Jouni M, Si-Tayeb K, Es-Salah-Lamoureux Z, Latypova X, Champon B, Caillaud A, Rungoat A, Charpentier F, Loussouarn G, Baró I, Zibara K, Lemarchand P, Gaborit N.

J Am Heart Assoc 2015;4:.

From Human-Induced Pluripotent Stem Cells to Liver Disease Modeling: A Focus on Dyslipidemia.

Idriss S, Zibara K, Cariou B, Si-Tayeb K.

Curr Pathobiol Rep 2015;3:47–56.

Role of PCSK9 beyond liver involvement.

Cariou B, Si-Tayeb K, Le May C.  

Curr Opin Lipidol 2015;26:155–161.

Human induced pluripotent stem cells in hepatology: beyond the proof of concept.

Gerbal-Chaloin S, Funakoshi N, Caillaud A, Gondeau C, Champon B, Si-Tayeb K.

Am J Pathol 2014;184:332–347.