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Results: 1 to 20 of 175

1.

A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity.

Matute JD, Arias AA, Wright NA, Wrobel I, Waterhouse CC, Li XJ, Marchal CC, Stull ND, Lewis DB, Steele M, Kellner JD, Yu W, Meroueh SO, Nauseef WM, Dinauer MC.

Blood. 2009 Oct 8;114(15):3309-15. doi: 10.1182/blood-2009-07-231498. Epub 2009 Aug 19.

PMID:
19692703
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

p47phox Phox homology domain regulates plasma membrane but not phagosome neutrophil NADPH oxidase activation.

Li XJ, Marchal CC, Stull ND, Stahelin RV, Dinauer MC.

J Biol Chem. 2010 Nov 5;285(45):35169-79. doi: 10.1074/jbc.M110.164475. Epub 2010 Sep 5.

PMID:
20817944
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidase.

Noack D, Rae J, Cross AR, Muñoz J, Salmen S, Mendoza JA, Rossi N, Curnutte JT, Heyworth PG.

Hum Genet. 1999 Nov;105(5):460-7.

PMID:
10598813
[PubMed - indexed for MEDLINE]
4.

Molecular characterization of autosomal recessive chronic granulomatous disease caused by a defect of the nicotinamide adenine dinucleotide phosphate (reduced form) oxidase component p67-phox.

Patiño PJ, Rae J, Noack D, Erickson R, Ding J, de Olarte DG, Curnutte JT.

Blood. 1999 Oct 1;94(7):2505-14.

PMID:
10498624
[PubMed - indexed for MEDLINE]
Free Article
5.

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).

Roos D, Kuhns DB, Maddalena A, Bustamante J, Kannengiesser C, de Boer M, van Leeuwen K, Köker MY, Wolach B, Roesler J, Malech HL, Holland SM, Gallin JI, Stasia MJ.

Blood Cells Mol Dis. 2010 Apr 15;44(4):291-9. doi: 10.1016/j.bcmd.2010.01.009. Epub 2010 Feb 18. Review.

PMID:
20167518
[PubMed - indexed for MEDLINE]
6.

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.

PMID:
10627478
[PubMed - indexed for MEDLINE]
Free Article
7.

[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.

PMID:
17969555
[PubMed - indexed for MEDLINE]
8.

Neutrophils from p40phox-/- mice exhibit severe defects in NADPH oxidase regulation and oxidant-dependent bacterial killing.

Ellson CD, Davidson K, Ferguson GJ, O'Connor R, Stephens LR, Hawkins PT.

J Exp Med. 2006 Aug 7;203(8):1927-37. Epub 2006 Jul 31.

PMID:
16880254
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Residual NADPH oxidase and survival in chronic granulomatous disease.

Kuhns DB, Alvord WG, Heller T, Feld JJ, Pike KM, Marciano BE, Uzel G, DeRavin SS, Priel DA, Soule BP, Zarember KA, Malech HL, Holland SM, Gallin JI.

N Engl J Med. 2010 Dec 30;363(27):2600-10. doi: 10.1056/NEJMoa1007097.

PMID:
21190454
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Fc gamma R-stimulated activation of the NADPH oxidase: phosphoinositide-binding protein p40phox regulates NADPH oxidase activity after enzyme assembly on the phagosome.

Tian W, Li XJ, Stull ND, Ming W, Suh CI, Bissonnette SA, Yaffe MB, Grinstein S, Atkinson SJ, Dinauer MC.

Blood. 2008 Nov 1;112(9):3867-77. doi: 10.1182/blood-2007-11-126029. Epub 2008 Aug 18.

PMID:
18711001
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Complementation of NADPH oxidase in p67-phox-deficient CGD patients p67-phox/p40-phox interaction.

Vergnaud S, Paclet MH, El Benna J, Pocidalo MA, Morel F.

Eur J Biochem. 2000 Feb;267(4):1059-67.

PMID:
10672014
[PubMed - indexed for MEDLINE]
Free Article
12.

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.

PMID:
12589359
[PubMed - indexed for MEDLINE]
13.

Characterization of a mutation in the Phox homology domain of the NADPH oxidase component p40phox identifies a mechanism for negative regulation of superoxide production.

Chen J, He R, Minshall RD, Dinauer MC, Ye RD.

J Biol Chem. 2007 Oct 12;282(41):30273-84. Epub 2007 Aug 13.

PMID:
17698849
[PubMed - indexed for MEDLINE]
Free Article
14.

Phosphatidylinositol 3-phosphate-dependent and -independent functions of p40phox in activation of the neutrophil NADPH oxidase.

Bissonnette SA, Glazier CM, Stewart MQ, Brown GE, Ellson CD, Yaffe MB.

J Biol Chem. 2008 Jan 25;283(4):2108-19. Epub 2007 Nov 20.

PMID:
18029359
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

The phosphoinositide-binding protein p40phox activates the NADPH oxidase during FcgammaIIA receptor-induced phagocytosis.

Suh CI, Stull ND, Li XJ, Tian W, Price MO, Grinstein S, Yaffe MB, Atkinson S, Dinauer MC.

J Exp Med. 2006 Aug 7;203(8):1915-25. Epub 2006 Jul 31.

PMID:
16880255
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

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.

PMID:
23910690
[PubMed - indexed for MEDLINE]
17.

A point mutation in gp91-phox of cytochrome b558 of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox.

Leusen JH, de Boer M, Bolscher BG, Hilarius PM, Weening RS, Ochs HD, Roos D, Verhoeven AJ.

J Clin Invest. 1994 May;93(5):2120-6.

PMID:
8182143
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

An in-frame triplet deletion within the gp91-phox gene in an adult X-linked chronic granulomatous disease patient with residual NADPH-oxidase activity.

Jendrossek V, Ritzel A, Neubauer B, Heyden S, Gahr M.

Eur J Haematol. 1997 Feb;58(2):78-85.

PMID:
9111587
[PubMed - indexed for MEDLINE]
19.

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.

PMID:
9774399
[PubMed - indexed for MEDLINE]
Free Article
20.

Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease.

Dinauer MC, Pierce EA, Erickson RW, Muhlebach TJ, Messner H, Orkin SH, Seger RA, Curnutte JT.

Proc Natl Acad Sci U S A. 1991 Dec 15;88(24):11231-5.

PMID:
1763037
[PubMed - indexed for MEDLINE]
Free PMC Article

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