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Variants in nicotinamide adenine dinucleotide phosphate oxidase complex components determine susceptibility to very early onset inflammatory bowel disease.

Dhillon SS, Fattouh R, Elkadri A, Xu W, Murchie R, Walters T, Guo C, Mack D, Huynh HQ, Baksh S, Silverberg MS, Griffiths AM, Snapper SB, Brumell JH, Muise AM.

Gastroenterology. 2014 Sep;147(3):680-689.e2. doi: 10.1053/j.gastro.2014.06.005. Epub 2014 Jun 12.


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.


Four novel mutations in the gene encoding gp91-phox of human NADPH oxidase: consequences for oxidase assembly.

Leusen JH, Meischl C, Eppink MH, Hilarius PM, de Boer M, Weening RS, Ahlin A, Sanders L, Goldblatt D, Skopczynska H, Bernatowska E, Palmblad J, Verhoeven AJ, van Berkel WJ, Roos D.

Blood. 2000 Jan 15;95(2):666-73.


Colitis susceptibility in p47(phox-/-) mice is mediated by the microbiome.

Falcone EL, Abusleme L, Swamydas M, Lionakis MS, Ding L, Hsu AP, Zelazny AM, Moutsopoulos NM, Kuhns DB, Deming C, Quiñones M, Segre JA, Bryant CE, Holland SM.

Microbiome. 2016 Apr 5;4:13. doi: 10.1186/s40168-016-0159-0.


[Molecular aspects of chronic granulomatous disease. "the NADPH oxidase complex"].

Morel F.

Bull Acad Natl Med. 2007 Feb;191(2):377-90; discussion 390-2. Review. French.


Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients.

Köker MY, Camcıoğlu Y, van Leeuwen K, Kılıç SŞ, Barlan I, Yılmaz M, Metin A, de Boer M, Avcılar H, Patıroğlu T, Yıldıran A, Yeğin O, Tezcan I, Sanal Ö, Roos D.

J Allergy Clin Immunol. 2013 Nov;132(5):1156-1163.e5. doi: 10.1016/j.jaci.2013.05.039. Epub 2013 Jul 31.


Therapeutic effects of proteoliposomes on X-linked chronic granulomatous disease: proof of concept using macrophages differentiated from patient-specific induced pluripotent stem cells.

Brault J, Vaganay G, Le Roy A, Lenormand JL, Cortes S, Stasia MJ.

Int J Nanomedicine. 2017 Mar 20;12:2161-2177. doi: 10.2147/IJN.S128611. eCollection 2017.


Two X-linked chronic granulomatous disease patients with unusual NADPH oxidase properties.

Wolach B, Broides A, Zeeli T, Gavrieli R, de Boer M, van Leeuwen K, Levy J, Roos D.

J Clin Immunol. 2011 Aug;31(4):560-6. doi: 10.1007/s10875-011-9537-3. Epub 2011 May 21.


Defects in NADPH Oxidase Genes NOX1 and DUOX2 in Very Early Onset Inflammatory Bowel Disease.

Hayes P, Dhillon S, O'Neill K, Thoeni C, Hui KY, Elkadri A, Guo CH, Kovacic L, Aviello G, Alvarez LA, Griffiths AM, Snapper SB, Brant SR, Doroshow JH, Silverberg MS, Peter I, McGovern DP, Cho J, Brumell JH, Uhlig HH, Bourke B, Muise AA, Knaus UG.

Cell Mol Gastroenterol Hepatol. 2015 Sep 1;1(5):489-502.


Mutation at histidine 338 of gp91(phox) depletes FAD and affects expression of cytochrome b558 of the human NADPH oxidase.

Yoshida LS, Saruta F, Yoshikawa K, Tatsuzawa O, Tsunawaki S.

J Biol Chem. 1998 Oct 23;273(43):27879-86.


New insights into the membrane topology of the phagocyte NADPH oxidase: characterization of an anti-gp91-phox conformational monoclonal antibody.

Campion Y, Paclet MH, Jesaitis AJ, Marques B, Grichine A, Berthier S, Lenormand JL, Lardy B, Stasia MJ, Morel F.

Biochimie. 2007 Sep;89(9):1145-58. Epub 2007 Feb 20.


Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay.

Jirapongsananuruk O, Malech HL, Kuhns DB, Niemela JE, Brown MR, Anderson-Cohen M, Fleisher TA.

J Allergy Clin Immunol. 2003 Feb;111(2):374-9.


Genetic and biochemical background of chronic granulomatous disease.

Jurkowska M, Bernatowska E, Bal J.

Arch Immunol Ther Exp (Warsz). 2004 Mar-Apr;52(2):113-20. Review.


Mapping of functional domains in the p22(phox) subunit of flavocytochrome b(559) participating in the assembly of the NADPH oxidase complex by "peptide walking".

Dahan I, Issaeva I, Gorzalczany Y, Sigal N, Hirshberg M, Pick E.

J Biol Chem. 2002 Mar 8;277(10):8421-32. Epub 2001 Dec 3.


Molecular basis of autosomal recessive chronic granulomatous disease in iran.

Teimourian S, de Boer M, Roos D.

J Clin Immunol. 2010 Jul;30(4):587-92. doi: 10.1007/s10875-010-9421-6. Epub 2010 Apr 21.


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