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Items: 1 to 20 of 82

1.

Lupus-associated causal mutation in neutrophil cytosolic factor 2 (NCF2) brings unique insights to the structure and function of NADPH oxidase.

Jacob CO, Eisenstein M, Dinauer MC, Ming W, Liu Q, John S, Quismorio FP Jr, Reiff A, Myones BL, Kaufman KM, McCurdy D, Harley JB, Silverman E, Kimberly RP, Vyse TJ, Gaffney PM, Moser KL, Klein-Gitelman M, Wagner-Weiner L, Langefeld CD, Armstrong DL, Zidovetzki R.

Proc Natl Acad Sci U S A. 2012 Jan 10;109(2):E59-67. doi: 10.1073/pnas.1113251108. Epub 2011 Dec 27.

2.

Systemic lupus erythematosus-associated neutrophil cytosolic factor 2 mutation affects the structure of NADPH oxidase complex.

Armstrong DL, Eisenstein M, Zidovetzki R, Jacob CO.

J Biol Chem. 2015 May 15;290(20):12595-602. doi: 10.1074/jbc.M115.639021. Epub 2015 Mar 20.

3.

Allelic heterogeneity in NCF2 associated with systemic lupus erythematosus (SLE) susceptibility across four ethnic populations.

Kim-Howard X, Sun C, Molineros JE, Maiti AK, Chandru H, Adler A, Wiley GB, Kaufman KM, Kottyan L, Guthridge JM, Rasmussen A, Kelly J, Sánchez E, Raj P, Li QZ, Bang SY, Lee HS, Kim TH, Kang YM, Suh CH, Chung WT, Park YB, Choe JY, Shim SC, Lee SS, Han BG, Olsen NJ, Karp DR, Moser K, Pons-Estel BA, Wakeland EK, James JA, Harley JB, Bae SC, Gaffney PM, Alarcón-Riquelme M; GENLES, Looger LL, Nath SK.

Hum Mol Genet. 2014 Mar 15;23(6):1656-68. doi: 10.1093/hmg/ddt532. Epub 2013 Oct 26.

4.

NADPH oxidase complex and IBD candidate gene studies: identification of a rare variant in NCF2 that results in reduced binding to RAC2.

Muise AM, Xu W, Guo CH, Walters TD, Wolters VM, Fattouh R, Lam GY, Hu P, Murchie R, Sherlock M, Gana JC; NEOPICS, Russell RK, Glogauer M, Duerr RH, Cho JH, Lees CW, Satsangi J, Wilson DC, Paterson AD, Griffiths AM, Silverberg MS, Brumell JH.

Gut. 2012 Jul;61(7):1028-35. doi: 10.1136/gutjnl-2011-300078. Epub 2011 Sep 7. Erratum in: Gut. 2013 Oct;62(10):1432.

5.

Stimulus-dependent regulation of the phagocyte NADPH oxidase by a VAV1, Rac1, and PAK1 signaling axis.

Roepstorff K, Rasmussen I, Sawada M, Cudre-Maroux C, Salmon P, Bokoch G, van Deurs B, Vilhardt F.

J Biol Chem. 2008 Mar 21;283(12):7983-93. Epub 2007 Dec 26.

6.

The association between single-nucleotide polymorphisms of NCF2 and systemic lupus erythematosus in Chinese mainland population.

Yu B, Chen Y, Wu Q, Li P, Shao Y, Zhang J, Zhong Q, Peng X, Yang H, Hu X, Chen B, Guan M, Wan J, Zhang W.

Clin Rheumatol. 2011 Apr;30(4):521-7. doi: 10.1007/s10067-010-1567-3. Epub 2010 Sep 15.

PMID:
20842512
7.

A novel mutation in NCF2 associated with autoimmune disease and a solitary late-onset infection.

Chou J, Hsu JT, Bainter W, Al-Attiyah R, Al-Herz W, Geha RS.

Clin Immunol. 2015 Dec;161(2):128-30. doi: 10.1016/j.clim.2015.08.003. Epub 2015 Aug 10.

PMID:
26272171
8.

A single nucleotide polymorphism in the NCF1 gene leading to reduced oxidative burst is associated with systemic lupus erythematosus.

Olsson LM, Johansson ÅC, Gullstrand B, Jönsen A, Saevarsdottir S, Rönnblom L, Leonard D, Wetterö J, Sjöwall C, Svenungsson E, Gunnarsson I, Bengtsson AA, Holmdahl R.

Ann Rheum Dis. 2017 Sep;76(9):1607-1613. doi: 10.1136/annrheumdis-2017-211287. Epub 2017 Jun 12.

PMID:
28606963
9.

A missense variant in NCF1 is associated with susceptibility to multiple autoimmune diseases.

Zhao J, Ma J, Deng Y, Kelly JA, Kim K, Bang SY, Lee HS, Li QZ, Wakeland EK, Qiu R, Liu M, Guo J, Li Z, Tan W, Rasmussen A, Lessard CJ, Sivils KL, Hahn BH, Grossman JM, Kamen DL, Gilkeson GS, Bae SC, Gaffney PM, Shen N, Tsao BP.

Nat Genet. 2017 Mar;49(3):433-437. doi: 10.1038/ng.3782. Epub 2017 Jan 30.

10.

Haploinsufficiency of NADPH Oxidase Subunit Neutrophil Cytosolic Factor 2 Is Sufficient to Accelerate Full-Blown Lupus in NZM 2328 Mice.

Jacob CO, Yu N, Yoo DG, Perez-Zapata LJ, Barbu EA, Kaplan MJ, Purmalek M, Pingel JT, Idol RA, Dinauer MC.

Arthritis Rheumatol. 2017 Aug;69(8):1647-1660. doi: 10.1002/art.40141. Epub 2017 Jul 5.

PMID:
28471497
11.

Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with systemic lupus erythematosus.

Cunninghame Graham DS, Morris DL, Bhangale TR, Criswell LA, Syvänen AC, Rönnblom L, Behrens TW, Graham RR, Vyse TJ.

PLoS Genet. 2011 Oct;7(10):e1002341. doi: 10.1371/journal.pgen.1002341. Epub 2011 Oct 27.

12.

Association of a functional IRF7 variant with systemic lupus erythematosus.

Fu Q, Zhao J, Qian X, Wong JL, Kaufman KM, Yu CY; Hwee Siew Howe; Tan Tock Seng Hospital Lupus Study Group, Mok MY, Harley JB, Guthridge JM, Song YW, Cho SK, Bae SC, Grossman JM, Hahn BH, Arnett FC, Shen N, Tsao BP.

Arthritis Rheum. 2011 Mar;63(3):749-54. doi: 10.1002/art.30193.

14.

Remedial strategies in structural proteomics: expression, purification, and crystallization of the Vav1/Rac1 complex.

Brooun A, Foster SA, Chrencik JE, Chien EY, Kolatkar AR, Streiff M, Ramage P, Widmer H, Weckbecker G, Kuhn P.

Protein Expr Purif. 2007 May;53(1):51-62. Epub 2006 Dec 5.

15.

Analysis of gender differences in genetic risk: association of TNFAIP3 polymorphism with male childhood-onset systemic lupus erythematosus in the Japanese population.

Kadota K, Mori M, Yanagimachi M, Miyamae T, Hara T, Kanetaka T, Nozawa T, Kikuchi M, Hara R, Imagawa T, Kaneko T, Yokota S.

PLoS One. 2013 Aug 30;8(8):e72551. doi: 10.1371/journal.pone.0072551. eCollection 2013.

16.

The Rac effector p67phox regulates phagocyte NADPH oxidase by stimulating Vav1 guanine nucleotide exchange activity.

Ming W, Li S, Billadeau DD, Quilliam LA, Dinauer MC.

Mol Cell Biol. 2007 Jan;27(1):312-23. Epub 2006 Oct 23.

17.

Two missense variants in UHRF1BP1 are independently associated with systemic lupus erythematosus in Hong Kong Chinese.

Zhang Y, Yang W, Mok CC, Chan TM, Wong RW, Mok MY, Lee KW, Wong SN, Leung AM, Lee TL, Ho MH, Lee PP, Wong WH, Yang J, Zhang J, Wong CM, Ng IO, Garcia-Barceló MM, Cherny SS, Tam PK, Sham PC, Lau CS, Lau YL.

Genes Immun. 2011 Apr;12(3):231-4. doi: 10.1038/gene.2010.66. Epub 2011 Feb 17.

PMID:
21326321
18.

T cell signaling abnormalities in systemic lupus erythematosus are associated with increased mutations/polymorphisms and splice variants of T cell receptor zeta chain messenger RNA.

Nambiar MP, Enyedy EJ, Warke VG, Krishnan S, Dennis G, Wong HK, Kammer GM, Tsokos GC.

Arthritis Rheum. 2001 Jun;44(6):1336-50.

19.
20.

Mutational analysis of novel effector domains in Rac1 involved in the activation of nicotinamide adenine dinucleotide phosphate (reduced) oxidase.

Toporik A, Gorzalczany Y, Hirshberg M, Pick E, Lotan O.

Biochemistry. 1998 May 19;37(20):7147-56.

PMID:
9585526

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