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Items: 1 to 20 of 95

1.

Mutation of the Cyba gene encoding p22phox causes vestibular and immune defects in mice.

Nakano Y, Longo-Guess CM, Bergstrom DE, Nauseef WM, Jones SM, Bánfi B.

J Clin Invest. 2008 Mar;118(3):1176-85. doi: 10.1172/JCI33835.

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Pivotal Advance: Eosinophilia in the MES rat strain is caused by a loss-of-function mutation in the gene for cytochrome b(-245), alpha polypeptide (Cyba).

Mori M, Li G, Hashimoto M, Nishio A, Tomozawa H, Suzuki N, Usami S, Higuchi K, Matsumoto K.

J Leukoc Biol. 2009 Sep;86(3):473-8. doi: 10.1189/jlb.1108715.

PMID:
19406829
4.

CYBA encoding p22(phox), the cytochrome b558 alpha polypeptide: gene structure, expression, role and physiopathology.

Stasia MJ.

Gene. 2016 Jul 15;586(1):27-35. doi: 10.1016/j.gene.2016.03.050. Review.

PMID:
27048830
5.

Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients.

Yamada M, Ariga T, Kawamura N, Ohtsu M, Imajoh-Ohmi S, Ohshika E, Tatsuzawa O, Kobayashi K, Sakiyama Y.

Br J Haematol. 2000 Mar;108(3):511-7.

PMID:
10759707
6.

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.

7.

Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox).

Rae J, Noack D, Heyworth PG, Ellis BA, Curnutte JT, Cross AR.

Blood. 2000 Aug 1;96(3):1106-12.

8.

[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
10.

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.

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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.

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Altered vascular activation due to deficiency of the NADPH oxidase component p22phox.

Wang H, Albadawi H, Siddiquee Z, Stone JM, Panchenko MP, Watkins MT, Stone JR.

Cardiovasc Pathol. 2014 Jan-Feb;23(1):35-42. doi: 10.1016/j.carpath.2013.08.003.

PMID:
24035466
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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.

PMID:
23910690
19.

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.

PMID:
20407811
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