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Items: 33

1.

Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis.

Serwas NK, Hoeger B, Ardy RC, Stulz SV, Sui Z, Memaran N, Meeths M, Krolo A, Yüce Petronczki Ö, Pfajfer L, Hou TZ, Halliday N, Santos-Valente E, Kalinichenko A, Kennedy A, Mace EM, Mukherjee M, Tesi B, Schrempf A, Loizou JI, Kain R, Bidmon-Fliegenschnee B, Schickel JN, Glauzy S, Huemer J, Garncarz W, Salzer E, Pierides I, Bilic I, Thiel J, Priftakis P, Banerjee PP, Förster-Waldl E, Medgyesi D, Huber WD, Orange JS, Meffre E, Sansom DM, Bryceson YT, Altman A, Boztug K.

Nat Commun. 2019 Jul 15;10(1):3106. doi: 10.1038/s41467-019-10812-x.

2.

AIRE expression controls the peripheral selection of autoreactive B cells.

Sng J, Ayoglu B, Chen JW, Schickel JN, Ferre EMN, Glauzy S, Romberg N, Hoenig M, Cunningham-Rundles C, Utz PJ, Lionakis MS, Meffre E.

Sci Immunol. 2019 Apr 12;4(34). pii: eaav6778. doi: 10.1126/sciimmunol.aav6778.

PMID:
30979797
3.

Reprogramming human T cell function and specificity with non-viral genome targeting.

Roth TL, Puig-Saus C, Yu R, Shifrut E, Carnevale J, Li PJ, Hiatt J, Saco J, Krystofinski P, Li H, Tobin V, Nguyen DN, Lee MR, Putnam AL, Ferris AL, Chen JW, Schickel JN, Pellerin L, Carmody D, Alkorta-Aranburu G, Del Gaudio D, Matsumoto H, Morell M, Mao Y, Cho M, Quadros RM, Gurumurthy CB, Smith B, Haugwitz M, Hughes SH, Weissman JS, Schumann K, Esensten JH, May AP, Ashworth A, Kupfer GM, Greeley SAW, Bacchetta R, Meffre E, Roncarolo MG, Romberg N, Herold KC, Ribas A, Leonetti MD, Marson A.

Nature. 2018 Jul;559(7714):405-409. doi: 10.1038/s41586-018-0326-5. Epub 2018 Jul 11.

4.

Patients with common variable immunodeficiency with autoimmune cytopenias exhibit hyperplastic yet inefficient germinal center responses.

Romberg N, Le Coz C, Glauzy S, Schickel JN, Trofa M, Nolan BE, Paessler M, Xu ML, Lambert MP, Lakhani SA, Khokha MK, Jyonouchi S, Heimall J, Takach P, Maglione PJ, Catanzaro J, Hsu FI, Sullivan KE, Cunningham-Rundles C, Meffre E.

J Allergy Clin Immunol. 2019 Jan;143(1):258-265. doi: 10.1016/j.jaci.2018.06.012. Epub 2018 Jun 20.

PMID:
29935219
5.

Impaired TLR9 responses in B cells from patients with systemic lupus erythematosus.

Gies V, Schickel JN, Jung S, Joublin A, Glauzy S, Knapp AM, Soley A, Poindron V, Guffroy A, Choi JY, Gottenberg JE, Anolik JH, Martin T, Soulas-Sprauel P, Meffre E, Korganow AS.

JCI Insight. 2018 Mar 8;3(5). pii: 96795. doi: 10.1172/jci.insight.96795.

6.

Correction: Self-reactive VH4-34-expressing IgG B cells recognize commensal bacteria.

Schickel JN, Glauzy S, Ng YS, Chamberlain N, Massad C, Isnardi I, Katz N, Uzel G, Holland SM, Picard C, Puel A, Casanova JL, Meffre E.

J Exp Med. 2017 Jul 3;214(7):2161. doi: 10.1084/jem.2016020105152017c. Epub 2017 May 18. No abstract available.

7.

Self-reactive VH4-34-expressing IgG B cells recognize commensal bacteria.

Schickel JN, Glauzy S, Ng YS, Chamberlain N, Massad C, Isnardi I, Katz N, Uzel G, Holland SM, Picard C, Puel A, Casanova JL, Meffre E.

J Exp Med. 2017 Jul 3;214(7):1991-2003. doi: 10.1084/jem.20160201. Epub 2017 May 12. Erratum in: J Exp Med. 2017 May 18;:.

8.

A novel humanized mouse model with significant improvement of class-switched, antigen-specific antibody production.

Yu H, Borsotti C, Schickel JN, Zhu S, Strowig T, Eynon EE, Frleta D, Gurer C, Murphy AJ, Yancopoulos GD, Meffre E, Manz MG, Flavell RA.

Blood. 2017 Feb 23;129(8):959-969. doi: 10.1182/blood-2016-04-709584. Epub 2017 Jan 11.

9.

PTPN22 inhibition resets defective human central B cell tolerance.

Schickel JN, Kuhny M, Baldo A, Bannock JM, Massad C, Wang H, Katz N, Oe T, Menard L, Soulas-Sprauel P, Strowig T, Flavell R, Meffre E.

Sci Immunol. 2016;1(1). pii: aaf7153. Epub 2016 Jul 22.

10.

Decreased somatic hypermutation induces an impaired peripheral B cell tolerance checkpoint.

Cantaert T, Schickel JN, Bannock JM, Ng YS, Massad C, Delmotte FR, Yamakawa N, Glauzy S, Chamberlain N, Kinnunen T, Menard L, Lavoie A, Walter JE, Notarangelo LD, Bruneau J, Al-Herz W, Kilic SS, Ochs HD, Cunningham-Rundles C, van der Burg M, Kuijpers TW, Kracker S, Kaneko H, Sekinaka Y, Nonoyama S, Durandy A, Meffre E.

J Clin Invest. 2016 Nov 1;126(11):4289-4302. doi: 10.1172/JCI84645. Epub 2016 Oct 4.

11.

Activation-Induced Cytidine Deaminase Expression in Human B Cell Precursors Is Essential for Central B Cell Tolerance.

Cantaert T, Schickel JN, Bannock JM, Ng YS, Massad C, Oe T, Wu R, Lavoie A, Walter JE, Notarangelo LD, Al-Herz W, Kilic SS, Ochs HD, Nonoyama S, Durandy A, Meffre E.

Immunity. 2015 Nov 17;43(5):884-95. doi: 10.1016/j.immuni.2015.10.002. Epub 2015 Nov 3.

12.

CD19 controls Toll-like receptor 9 responses in human B cells.

Morbach H, Schickel JN, Cunningham-Rundles C, Conley ME, Reisli I, Franco JL, Meffre E.

J Allergy Clin Immunol. 2016 Mar;137(3):889-98.e6. doi: 10.1016/j.jaci.2015.08.040. Epub 2015 Oct 21.

13.

Chronic bacterial infection activates autoreactive B cells and induces isotype switching and autoantigen-driven mutations.

Jung S, Schickel JN, Kern A, Knapp AM, Eftekhari P, Da Silva S, Jaulhac B, Brink R, Soulas-Sprauel P, Pasquali JL, Martin T, Korganow AS.

Eur J Immunol. 2016 Jan;46(1):131-46. doi: 10.1002/eji.201545810. Epub 2015 Nov 16.

14.

Overexpression of Fkbp11, a feature of lupus B cells, leads to B cell tolerance breakdown and initiates plasma cell differentiation.

Ruer-Laventie J, Simoni L, Schickel JN, Soley A, Duval M, Knapp AM, Marcellin L, Lamon D, Korganow AS, Martin T, Pasquali JL, Soulas-Sprauel P.

Immun Inflamm Dis. 2015 Sep;3(3):265-79. doi: 10.1002/iid3.65. Epub 2015 Jun 18.

15.

Lentiviral-mediated gene therapy restores B cell tolerance in Wiskott-Aldrich syndrome patients.

Pala F, Morbach H, Castiello MC, Schickel JN, Scaramuzza S, Chamberlain N, Cassani B, Glauzy S, Romberg N, Candotti F, Aiuti A, Bosticardo M, Villa A, Meffre E.

J Clin Invest. 2015 Oct 1;125(10):3941-51. doi: 10.1172/JCI82249. Epub 2015 Sep 14.

16.

Circulating Human CD27-IgA+ Memory B Cells Recognize Bacteria with Polyreactive Igs.

Berkowska MA, Schickel JN, Grosserichter-Wagener C, de Ridder D, Ng YS, van Dongen JJ, Meffre E, van Zelm MC.

J Immunol. 2015 Aug 15;195(4):1417-26. doi: 10.4049/jimmunol.1402708. Epub 2015 Jul 6.

17.

TNF receptor superfamily member 13b (TNFRSF13B) hemizygosity reveals transmembrane activator and CAML interactor haploinsufficiency at later stages of B-cell development.

Romberg N, Virdee M, Chamberlain N, Oe T, Schickel JN, Perkins T, Cantaert T, Rachid R, Rosengren S, Palazzo R, Geha R, Cunningham-Rundles C, Meffre E.

J Allergy Clin Immunol. 2015 Nov;136(5):1315-25. doi: 10.1016/j.jaci.2015.05.012. Epub 2015 Jun 19.

18.

The V gene repertoires of classical and atypical memory B cells in malaria-susceptible West African children.

Zinöcker S, Schindler CE, Skinner J, Rogosch T, Waisberg M, Schickel JN, Meffre E, Kayentao K, Ongoïba A, Traoré B, Pierce SK.

J Immunol. 2015 Feb 1;194(3):929-39. doi: 10.4049/jimmunol.1402168. Epub 2015 Jan 2.

19.

Carabin protects against cardiac hypertrophy by blocking calcineurin, Ras, and Ca2+/calmodulin-dependent protein kinase II signaling.

Bisserier M, Berthouze-Duquesnes M, Breckler M, Tortosa F, Fazal L, de Régibus A, Laurent AC, Varin A, Lucas A, Branchereau M, Marck P, Schickel JN, Deloménie C, Cazorla O, Soulas-Sprauel P, Crozatier B, Morel E, Heymes C, Lezoualc'h F.

Circulation. 2015 Jan 27;131(4):390-400; discussion 400. doi: 10.1161/CIRCULATIONAHA.114.010686. Epub 2014 Nov 4.

PMID:
25369805
20.

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4.

Kuehn HS, Ouyang W, Lo B, Deenick EK, Niemela JE, Avery DT, Schickel JN, Tran DQ, Stoddard J, Zhang Y, Frucht DM, Dumitriu B, Scheinberg P, Folio LR, Frein CA, Price S, Koh C, Heller T, Seroogy CM, Huttenlocher A, Rao VK, Su HC, Kleiner D, Notarangelo LD, Rampertaap Y, Olivier KN, McElwee J, Hughes J, Pittaluga S, Oliveira JB, Meffre E, Fleisher TA, Holland SM, Lenardo MJ, Tangye SG, Uzel G.

Science. 2014 Sep 26;345(6204):1623-1627. doi: 10.1126/science.1255904. Epub 2014 Sep 11.

21.

Carabin deficiency in B cells increases BCR-TLR9 costimulation-induced autoimmunity.

Schickel JN, Pasquali JL, Soley A, Knapp AM, Decossas M, Kern A, Fauny JD, Marcellin L, Korganow AS, Martin T, Soulas-Sprauel P.

EMBO Mol Med. 2012 Dec;4(12):1261-75. doi: 10.1002/emmm.201201595. Epub 2012 Oct 29.

22.

B cell signature during inactive systemic lupus is heterogeneous: toward a biological dissection of lupus.

Garaud JC, Schickel JN, Blaison G, Knapp AM, Dembele D, Ruer-Laventie J, Korganow AS, Martin T, Soulas-Sprauel P, Pasquali JL.

PLoS One. 2011;6(8):e23900. doi: 10.1371/journal.pone.0023900. Epub 2011 Aug 23.

23.

Synovial fibroblasts promote immunoglobulin class switching by a mechanism involving BAFF.

Alsaleh G, François A, Knapp AM, Schickel JN, Sibilia J, Pasquali JL, Gottenberg JE, Wachsmann D, Soulas-Sprauel P.

Eur J Immunol. 2011 Jul;41(7):2113-22. doi: 10.1002/eji.201041194. Epub 2011 May 20.

24.

Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia.

Schickel J, Pamminger T, Ehrsam A, Münch S, Huang X, Klopstock T, Kurlemann G, Hemmerich P, Dubiel W, Deufel T, Beetz C.

Eur J Neurol. 2007 Dec;14(12):1322-8. Epub 2007 Oct 3.

PMID:
17916079
25.

Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause.

Beetz C, Zuchner S, Ashley-Koch A, Auer-Grumbach M, Byrne P, Chinnery PF, Hutchinson M, McDermott CJ, Meijer IA, Nygren AO, Pericak-Vance M, Pyle A, Rouleau GA, Schickel J, Shaw PJ, Deufel T.

Hum Mutat. 2007 Jul;28(7):739-40. No abstract available.

PMID:
17345589
26.

High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia.

Beetz C, Nygren AO, Schickel J, Auer-Grumbach M, Bürk K, Heide G, Kassubek J, Klimpe S, Klopstock T, Kreuz F, Otto S, Schüle R, Schöls L, Sperfeld AD, Witte OW, Deufel T.

Neurology. 2006 Dec 12;67(11):1926-30. Epub 2006 Oct 11.

PMID:
17035675
27.

Unexpected pathogenic mechanism of a novel mutation in the coding sequence of SPG4 (spastin).

Schickel J, Beetz C, Frömmel C, Heide G, Sasse A, Hemmerich P, Deufel T.

Neurology. 2006 Feb 14;66(3):421-3.

PMID:
16476945
28.

Identification of nuclear localisation sequences in spastin (SPG4) using a novel Tetra-GFP reporter system.

Beetz C, Brodhun M, Moutzouris K, Kiehntopf M, Berndt A, Lehnert D, Deufel T, Bastmeyer M, Schickel J.

Biochem Biophys Res Commun. 2004 Jun 11;318(4):1079-84.

PMID:
15147984
29.

Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene.

Bönsch D, Schwindt A, Navratil P, Palm D, Neumann C, Klimpe S, Schickel J, Hazan J, Weiller C, Deufel T, Liepert J.

J Neurol Neurosurg Psychiatry. 2003 Aug;74(8):1109-12.

30.

Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis.

Kiehntopf M, Schickel J, Gönne Bv, Koch HG, Superti-Furga A, Steinmann B, Deufel T, Harms E.

Hum Mutat. 2002 Sep;20(3):237.

PMID:
12204010
31.

Gene for integrin-associated protein (IAP, CD47): physical mapping, genomic structure, and expression studies in skeletal muscle.

Schickel J, Stahn K, Zimmer KP, Sudbrak R, Størm TM, Dürst M, Kiehntopf M, Deufel T.

Biochem Cell Biol. 2002;80(2):169-76.

PMID:
11989712
32.

Kluyveromyces lactis killer system: analysis of cytoplasmic promoters of the linear plasmids.

Schickel J, Helmig C, Meinhardt F.

Nucleic Acids Res. 1996 May 15;24(10):1879-86.

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