351 related articles for article (PubMed ID: 2243141)
1. Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease.
Dinauer MC; Pierce EA; Bruns GA; Curnutte JT; Orkin SH
J Clin Invest; 1990 Nov; 86(5):1729-37. PubMed ID: 2243141
[TBL] [Abstract][Full Text] [Related]
2. Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox).
de Boer M; de Klein A; Hossle JP; Seger R; Corbeel L; Weening RS; Roos D
Am J Hum Genet; 1992 Nov; 51(5):1127-35. PubMed ID: 1415254
[TBL] [Abstract][Full Text] [Related]
3. A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease.
Dinauer MC; Curnutte JT; Rosen H; Orkin SH
J Clin Invest; 1989 Dec; 84(6):2012-6. PubMed ID: 2556453
[TBL] [Abstract][Full Text] [Related]
4. 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; 88(24):11231-5. PubMed ID: 1763037
[TBL] [Abstract][Full Text] [Related]
5. Chronic granulomatous disease. Molecular genetics.
Dinauer MC; Orkin SH
Hematol Oncol Clin North Am; 1988 Jun; 2(2):225-40. PubMed ID: 3292508
[TBL] [Abstract][Full Text] [Related]
6. Molecular genetics of chronic granulomatous disease.
Dinauer MC; Orkin SH
Immunodefic Rev; 1988; 1(1):55-69. PubMed ID: 3078710
[TBL] [Abstract][Full Text] [Related]
7. Identification of allele-specific p22-phox mutations in a compound heterozygous patient with chronic granulomatous disease by mismatch PCR and restriction enzyme analysis.
Hossle JP; de Boer M; Seger RA; Roos D
Hum Genet; 1994 Apr; 93(4):437-42. PubMed ID: 8168815
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 10759707
[TBL] [Abstract][Full Text] [Related]
9. Missense mutations in the gp91-phox gene encoding cytochrome b558 in patients with cytochrome b positive and negative X-linked chronic granulomatous disease.
Kaneda M; Sakuraba H; Ohtake A; Nishida A; Kiryu C; Kakinuma K
Blood; 1999 Mar; 93(6):2098-104. PubMed ID: 10068684
[TBL] [Abstract][Full Text] [Related]
10. Six different CYBA mutations including three novel mutations in ten families from Turkey, resulting in autosomal recessive chronic granulomatous disease.
Köker MY; van Leeuwen K; de Boer M; Celmeli F; Metin A; Ozgür TT; Tezcan I; Sanal O; Roos D
Eur J Clin Invest; 2009 Apr; 39(4):311-9. PubMed ID: 19292887
[TBL] [Abstract][Full Text] [Related]
11. Mutations in the promoter region of the gene for gp91-phox in X-linked chronic granulomatous disease with decreased expression of cytochrome b558.
Newburger PE; Skalnik DG; Hopkins PJ; Eklund EA; Curnutte JT
J Clin Invest; 1994 Sep; 94(3):1205-11. PubMed ID: 8083361
[TBL] [Abstract][Full Text] [Related]
12. A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A22(0)) leading to the activation of a cryptic splice site in intron 4.
Stasia MJ; Bordigoni P; Martel C; Morel F
Hum Genet; 2002 May; 110(5):444-50. PubMed ID: 12073015
[TBL] [Abstract][Full Text] [Related]
13. Three novel mutations in CYBA among 22 Iranians with Chronic granulomatous disease.
Badalzadeh M; Tajik S; Fazlollahi MR; Houshmand M; Fattahi F; Alizadeh Z; Movahedi M; Adab Z; Khotaei GT; Hamidieh AA; Heidarnazhad H; Pourpak Z
Int J Immunogenet; 2017 Dec; 44(6):314-321. PubMed ID: 28941186
[TBL] [Abstract][Full Text] [Related]
14. 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; 94(7):2505-14. PubMed ID: 10498624
[TBL] [Abstract][Full Text] [Related]
15. A 40-base-pair duplication in the gp91-phox gene leading to X-linked chronic granulomatous disease.
Rabbani H; de Boer M; Ahlin A; Sundin U; Elinder G; Hammarström L; Palmblad J; Smith CI; Roos D
Eur J Haematol; 1993 Oct; 51(4):218-22. PubMed ID: 7694872
[TBL] [Abstract][Full Text] [Related]
16. Different unequal cross-over events between NCF1 and its pseudogenes in autosomal p47(phox)-deficient chronic granulomatous disease.
Hayrapetyan A; Dencher PC; van Leeuwen K; de Boer M; Roos D
Biochim Biophys Acta; 2013 Oct; 1832(10):1662-72. PubMed ID: 23688784
[TBL] [Abstract][Full Text] [Related]
17. The X-linked chronic granulomatous disease gene codes for the beta-chain of cytochrome b-245.
Teahan C; Rowe P; Parker P; Totty N; Segal AW
Nature; 1987 Jun 25-Jul 1; 327(6124):720-1. PubMed ID: 3600769
[TBL] [Abstract][Full Text] [Related]
18. A donor splice site mutation in intron 1 of CYBA, leading to chronic granulomatous disease.
de Boer M; Hartl D; Wintergerst U; Belohradsky BH; Roos D
Blood Cells Mol Dis; 2005; 35(3):365-9. PubMed ID: 16157492
[TBL] [Abstract][Full Text] [Related]
19. Mutations of chronic granulomatous disease in Turkish families.
Köker MY; Sanal O; De Boer M; Tezcan I; Metin A; Ersoy F; Roos D
Eur J Clin Invest; 2007 Jul; 37(7):589-95. PubMed ID: 17576211
[TBL] [Abstract][Full Text] [Related]
20. Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat.
Casimir CM; Bu-Ghanim HN; Rodaway AR; Bentley DL; Rowe P; Segal AW
Proc Natl Acad Sci U S A; 1991 Apr; 88(7):2753-7. PubMed ID: 2011585
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
