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Results: 1 to 20 of 53

1.

An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation.

Le Guen T, Touzot F, André-Schmutz I, Lagresle-Peyrou C, France B, Kermasson L, Lambert N, Picard C, Nitschke P, Carpentier W, Bole-Feysot C, Lim A, Cavazzana M, Callebaut I, Soulier J, Jabado N, Fischer A, de Villartay JP, Revy P.

J Allergy Clin Immunol. 2015 Jul 25. pii: S0091-6749(15)00800-3. doi: 10.1016/j.jaci.2015.06.008. [Epub ahead of print]

PMID:
26220525
2.

Patterns of chromosomal copy-number alterations in intrahepatic cholangiocarcinoma.

Dalmasso C, Carpentier W, Guettier C, Camilleri-Broët S, Borelli WV, Campos Dos Santos CR, Castaing D, Duclos-Vallée JC, Broët P.

BMC Cancer. 2015 Mar 14;15:126. doi: 10.1186/s12885-015-1111-6.

3.

Gene expression analyses identify Narp contribution in the development of L-DOPA-induced dyskinesia.

Charbonnier-Beaupel F, Malerbi M, Alcacer C, Tahiri K, Carpentier W, Wang C, During M, Xu D, Worley PF, Girault JA, Hervé D, Corvol JC.

J Neurosci. 2015 Jan 7;35(1):96-111. doi: 10.1523/JNEUROSCI.5231-13.2015.

4.

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.

Bujakowska KM, Zhang Q, Siemiatkowska AM, Liu Q, Place E, Falk MJ, Consugar M, Lancelot ME, Antonio A, Lonjou C, Carpentier W, Mohand-Saïd S, den Hollander AI, Cremers FP, Leroy BP, Gai X, Sahel JA, van den Born LI, Collin RW, Zeitz C, Audo I, Pierce EA.

Hum Mol Genet. 2015 Jan 1;24(1):230-42. doi: 10.1093/hmg/ddu441. Epub 2014 Aug 28.

PMID:
25168386
5.

Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human.

Kielar M, Tuy FP, Bizzotto S, Lebrand C, de Juan Romero C, Poirier K, Oegema R, Mancini GM, Bahi-Buisson N, Olaso R, Le Moing AG, Boutourlinsky K, Boucher D, Carpentier W, Berquin P, Deleuze JF, Belvindrah R, Borrell V, Welker E, Chelly J, Croquelois A, Francis F.

Nat Neurosci. 2014 Jul;17(7):923-33. doi: 10.1038/nn.3729. Epub 2014 May 25.

PMID:
24859200
6.

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

International Multiple Sclerosis Genetics Consortium (IMSGC), Beecham AH, Patsopoulos NA, Xifara DK, Davis MF, Kemppinen A, Cotsapas C, Shah TS, Spencer C, Booth D, Goris A, Oturai A, Saarela J, Fontaine B, Hemmer B, Martin C, Zipp F, D'Alfonso S, Martinelli-Boneschi F, Taylor B, Harbo HF, Kockum I, Hillert J, Olsson T, Ban M, Oksenberg JR, Hintzen R, Barcellos LF; Wellcome Trust Case Control Consortium 2 (WTCCC2); International IBD Genetics Consortium (IIBDGC), Agliardi C, Alfredsson L, Alizadeh M, Anderson C, Andrews R, Søndergaard HB, Baker A, Band G, Baranzini SE, Barizzone N, Barrett J, Bellenguez C, Bergamaschi L, Bernardinelli L, Berthele A, Biberacher V, Binder TM, Blackburn H, Bomfim IL, Brambilla P, Broadley S, Brochet B, Brundin L, Buck D, Butzkueven H, Caillier SJ, Camu W, Carpentier W, Cavalla P, Celius EG, Coman I, Comi G, Corrado L, Cosemans L, Cournu-Rebeix I, Cree BA, Cusi D, Damotte V, Defer G, Delgado SR, Deloukas P, di Sapio A, Dilthey AT, Donnelly P, Dubois B, Duddy M, Edkins S, Elovaara I, Esposito F, Evangelou N, Fiddes B, Field J, Franke A, Freeman C, Frohlich IY, Galimberti D, Gieger C, Gourraud PA, Graetz C, Graham A, Grummel V, Guaschino C, Hadjixenofontos A, Hakonarson H, Halfpenny C, Hall G, Hall P, Hamsten A, Harley J, Harrower T, Hawkins C, Hellenthal G, Hillier C, Hobart J, Hoshi M, Hunt SE, Jagodic M, Jelčić I, Jochim A, Kendall B, Kermode A, Kilpatrick T, Koivisto K, Konidari I, Korn T, Kronsbein H, Langford C, Larsson M, Lathrop M, Lebrun-Frenay C, Lechner-Scott J, Lee MH, Leone MA, Leppä V, Liberatore G, Lie BA, Lill CM, Lindén M, Link J, Luessi F, Lycke J, Macciardi F, Männistö S, Manrique CP, Martin R, Martinelli V, Mason D, Mazibrada G, McCabe C, Mero IL, Mescheriakova J, Moutsianas L, Myhr KM, Nagels G, Nicholas R, Nilsson P, Piehl F, Pirinen M, Price SE, Quach H, Reunanen M, Robberecht W, Robertson NP, Rodegher M, Rog D, Salvetti M, Schnetz-Boutaud NC, Sellebjerg F, Selter RC, Schaefer C, Shaunak S, Shen L, Shields S, Siffrin V, Slee M, Sorensen PS, Sorosina M, Sospedra M, Spurkland A, Strange A, Sundqvist E, Thijs V, Thorpe J, Ticca A, Tienari P, van Duijn C, Visser EM, Vucic S, Westerlind H, Wiley JS, Wilkins A, Wilson JF, Winkelmann J, Zajicek J, Zindler E, Haines JL, Pericak-Vance MA, Ivinson AJ, Stewart G, Hafler D, Hauser SL, Compston A, McVean G, De Jager P, Sawcer SJ, McCauley JL.

Nat Genet. 2013 Nov;45(11):1353-60. doi: 10.1038/ng.2770. Epub 2013 Sep 29.

7.

Limitations of IL-2 and rapamycin in immunotherapy of type 1 diabetes.

Baeyens A, Pérol L, Fourcade G, Cagnard N, Carpentier W, Woytschak J, Boyman O, Hartemann A, Piaggio E.

Diabetes. 2013 Sep;62(9):3120-31. doi: 10.2337/db13-0214. Epub 2013 May 13.

8.

Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.

Le Guen T, Jullien L, Touzot F, Schertzer M, Gaillard L, Perderiset M, Carpentier W, Nitschke P, Picard C, Couillault G, Soulier J, Fischer A, Callebaut I, Jabado N, Londono-Vallejo A, de Villartay JP, Revy P.

Hum Mol Genet. 2013 Aug 15;22(16):3239-49. doi: 10.1093/hmg/ddt178. Epub 2013 Apr 15.

9.

Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation.

Moshous D, Martin E, Carpentier W, Lim A, Callebaut I, Canioni D, Hauck F, Majewski J, Schwartzentruber J, Nitschke P, Sirvent N, Frange P, Picard C, Blanche S, Revy P, Fischer A, Latour S, Jabado N, de Villartay JP.

J Allergy Clin Immunol. 2013 Jun;131(6):1594-603. doi: 10.1016/j.jaci.2013.01.042. Epub 2013 Mar 21.

10.

Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension.

Germain M, Eyries M, Montani D, Poirier O, Girerd B, Dorfmüller P, Coulet F, Nadaud S, Maugenre S, Guignabert C, Carpentier W, Vonk-Noordegraaf A, Lévy M, Chaouat A, Lambert JC, Bertrand M, Dupuy AM, Letenneur L, Lathrop M, Amouyel P, de Ravel TJ, Delcroix M, Austin ED, Robbins IM, Hemnes AR, Loyd JE, Berman-Rosenzweig E, Barst RJ, Chung WK, Simonneau G, Trégouët DA, Humbert M, Soubrier F.

Nat Genet. 2013 May;45(5):518-21. doi: 10.1038/ng.2581. Epub 2013 Mar 17.

11.

Ribosomal protein S6 kinase activity controls the ribosome biogenesis transcriptional program.

Chauvin C, Koka V, Nouschi A, Mieulet V, Hoareau-Aveilla C, Dreazen A, Cagnard N, Carpentier W, Kiss T, Meyuhas O, Pende M.

Oncogene. 2014 Jan 23;33(4):474-83. doi: 10.1038/onc.2012.606. Epub 2013 Jan 14.

PMID:
23318442
12.

A genome-wide association study in Caucasian women points out a putative role of the STXBP5L gene in facial photoaging.

Le Clerc S, Taing L, Ezzedine K, Latreille J, Delaneau O, Labib T, Coulonges C, Bernard A, Melak S, Carpentier W, Malvy D, Jdid R, Galan P, Hercberg S, Morizot F, Guinot C, Tschachler E, Zagury JF.

J Invest Dermatol. 2013 Apr;133(4):929-35. doi: 10.1038/jid.2012.458. Epub 2012 Dec 6.

13.

Restoration of regulatory and effector T cell balance and B cell homeostasis in systemic lupus erythematosus patients through vitamin D supplementation.

Terrier B, Derian N, Schoindre Y, Chaara W, Geri G, Zahr N, Mariampillai K, Rosenzwajg M, Carpentier W, Musset L, Piette JC, Six A, Klatzmann D, Saadoun D, Patrice C, Costedoat-Chalumeau N.

Arthritis Res Ther. 2012 Oct 17;14(5):R221. doi: 10.1186/ar4060.

14.

Translation termination efficiency modulates ATF4 response by regulating ATF4 mRNA translation at 5' short ORFs.

Ait Ghezala H, Jolles B, Salhi S, Castrillo K, Carpentier W, Cagnard N, Bruhat A, Fafournoux P, Jean-Jean O.

Nucleic Acids Res. 2012 Oct;40(19):9557-70. doi: 10.1093/nar/gks762. Epub 2012 Aug 16.

15.

RAD51 haploinsufficiency causes congenital mirror movements in humans.

Depienne C, Bouteiller D, Méneret A, Billot S, Groppa S, Klebe S, Charbonnier-Beaupel F, Corvol JC, Saraiva JP, Brueggemann N, Bhatia K, Cincotta M, Brochard V, Flamand-Roze C, Carpentier W, Meunier S, Marie Y, Gaussen M, Stevanin G, Wehrle R, Vidailhet M, Klein C, Dusart I, Brice A, Roze E.

Am J Hum Genet. 2012 Feb 10;90(2):301-7. doi: 10.1016/j.ajhg.2011.12.002. Epub 2012 Feb 2.

16.

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.

Klebe S, Lossos A, Azzedine H, Mundwiller E, Sheffer R, Gaussen M, Marelli C, Nawara M, Carpentier W, Meyer V, Rastetter A, Martin E, Bouteiller D, Orlando L, Gyapay G, El-Hachimi KH, Zimmerman B, Gamliel M, Misk A, Lerer I, Brice A, Durr A, Stevanin G.

Eur J Hum Genet. 2012 Jun;20(6):645-9. doi: 10.1038/ejhg.2011.261. Epub 2012 Jan 18.

17.

Expansion of functionally anergic CD21-/low marginal zone-like B cell clones in hepatitis C virus infection-related autoimmunity.

Terrier B, Joly F, Vazquez T, Benech P, Rosenzwajg M, Carpentier W, Garrido M, Ghillani-Dalbin P, Klatzmann D, Cacoub P, Saadoun D.

J Immunol. 2011 Dec 15;187(12):6550-63. doi: 10.4049/jimmunol.1102022. Epub 2011 Nov 14.

18.

CRB1 mutations in inherited retinal dystrophies.

Bujakowska K, Audo I, Mohand-Saïd S, Lancelot ME, Antonio A, Germain A, Léveillard T, Letexier M, Saraiva JP, Lonjou C, Carpentier W, Sahel JA, Bhattacharya SS, Zeitz C.

Hum Mutat. 2012 Feb;33(2):306-15. doi: 10.1002/humu.21653. Epub 2011 Dec 27. Review.

19.

A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.

Audo I, Bujakowska K, Mohand-Saïd S, Tronche S, Lancelot ME, Antonio A, Germain A, Lonjou C, Carpentier W, Sahel JA, Bhattacharya S, Zeitz C.

Mol Vis. 2011;17:1598-606. Epub 2011 Jun 15.

20.

RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects.

Jeanpierre C, Macé G, Parisot M, Morinière V, Pawtowsky A, Benabou M, Martinovic J, Amiel J, Attié-Bitach T, Delezoide AL, Loget P, Blanchet P, Gaillard D, Gonzales M, Carpentier W, Nitschke P, Tores F, Heidet L, Antignac C, Salomon R; Société Française de Foetopathologie.

J Med Genet. 2011 Jul;48(7):497-504. doi: 10.1136/jmg.2010.088526. Epub 2011 Apr 13.

PMID:
21490379
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