140 related articles for article (PubMed ID: 7607656)
1. A 15-base pair (bp) palindromic insertion associated with a 3-bp deletion in exon 10 of the gp91-phox gene, detected in two patients with X-linked chronic granulomatous disease.
Ariga T; Sakiyama Y; Matsumoto S
Hum Genet; 1995 Jul; 96(1):6-8. PubMed ID: 7607656
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 9111587
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. A new mutation in exon 12 of the gp91-phox gene leading to cytochrome b-positive X-linked chronic granulomatous disease.
Azuma H; Oomi H; Sasaki K; Kawabata I; Sakaino T; Koyano S; Suzutani T; Nunoi H; Okuno A
Blood; 1995 Jun; 85(11):3274-7. PubMed ID: 7756659
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Identification of (CA/GT)n polymorphisms within the X-linked chronic granulomatous disease (X-CGD) gene: utility for prenatal diagnosis.
Gorlin JB
J Pediatr Hematol Oncol; 1998; 20(2):112-9. PubMed ID: 9544160
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 12589359
[TBL] [Abstract][Full Text] [Related]
8. Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.
Ishibashi F; Nunoi H; Endo F; Matsuda I; Kanegasaki S
Hum Genet; 2000 May; 106(5):473-81. PubMed ID: 10914676
[TBL] [Abstract][Full Text] [Related]
9. CYBB mutation analysis in X-linked chronic granulomatous disease.
Jirapongsananuruk O; Niemela JE; Malech HL; Fleisher TA
Clin Immunol; 2002 Jul; 104(1):73-6. PubMed ID: 12139950
[TBL] [Abstract][Full Text] [Related]
10. Genetic analysis of 13 families with X-linked chronic granulomatous disease reveals a low proportion of sporadic patients and a high proportion of sporadic carriers.
Ariga T; Furuta H; Cho K; Sakiyama Y
Pediatr Res; 1998 Jul; 44(1):85-92. PubMed ID: 9667376
[TBL] [Abstract][Full Text] [Related]
11. Detection of gp91-phox precursor protein in B-cell lines from patients with X-linked chronic granulomatous disease as an indicator for mutations impairing cytochrome b558 biosynthesis.
Porter CD; Kuribayashi F; Parkar MH; Roos D; Kinnon C
Biochem J; 1996 Apr; 315 ( Pt 2)(Pt 2):571-5. PubMed ID: 8615831
[TBL] [Abstract][Full Text] [Related]
12. A novel polymorphism in the coding region of CYBB, the human gp91-phox gene.
Kuribayashi F; de Boer M; Leusen JH; Verhoeven AJ; Roos D
Hum Genet; 1996 May; 97(5):611-3. PubMed ID: 8655140
[TBL] [Abstract][Full Text] [Related]
13. A novel mutation at a probable heme-binding ligand in neutrophil cytochrome b558 in atypical X-linked chronic granulomatous disease.
Tsuda M; Kaneda M; Sakiyama T; Inana I; Owada M; Kiryu C; Shiraishi T; Kakinuma K
Hum Genet; 1998 Oct; 103(4):377-81. PubMed ID: 9856476
[TBL] [Abstract][Full Text] [Related]
14. Molecular analysis in three cases of X91- variant chronic granulomatous disease.
Bu-Ghanim HN; Segal AW; Keep NH; Casimir CM
Blood; 1995 Nov; 86(9):3575-82. PubMed ID: 7579466
[TBL] [Abstract][Full Text] [Related]
15. X-linked chronic granulomatous disease: correction of NADPH oxidase defect by retrovirus-mediated expression of gp91-phox.
Porter CD; Parkar MH; Levinsky RJ; Collins MK; Kinnon C
Blood; 1993 Oct; 82(7):2196-202. PubMed ID: 8400270
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.
Rae J; Newburger PE; Dinauer MC; Noack D; Hopkins PJ; Kuruto R; Curnutte JT
Am J Hum Genet; 1998 Jun; 62(6):1320-31. PubMed ID: 9585602
[TBL] [Abstract][Full Text] [Related]
19. Targeted Repair of CYBB in X-CGD iPSCs Requires Retention of Intronic Sequences for Expression and Functional Correction.
Sweeney CL; Zou J; Choi U; Merling RK; Liu A; Bodansky A; Burkett S; Kim JW; De Ravin SS; Malech HL
Mol Ther; 2017 Feb; 25(2):321-330. PubMed ID: 28153086
[TBL] [Abstract][Full Text] [Related]
20. Functional analysis of two-amino acid substitutions in gp91 phox in a patient with X-linked flavocytochrome b558-positive chronic granulomatous disease by means of transgenic PLB-985 cells.
Bionda C; Li XJ; van Bruggen R; Eppink M; Roos D; Morel F; Stasia MJ
Hum Genet; 2004 Oct; 115(5):418-27. PubMed ID: 15338276
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
