135 related articles for article (PubMed ID: 7803798)
1. A mutation located at the 5' splice junction sequence of intron 3 in the p67phox gene causes the lack of p67phox mRNA in a patient with chronic granulomatous disease.
Tanugi-Cholley LC; Issartel JP; Lunardi J; Freycon F; Morel F; Vignais PV
Blood; 1995 Jan; 85(1):242-9. PubMed ID: 7803798
[TBL] [Abstract][Full Text] [Related]
2. Two-exon skipping due to a point mutation in p67-phox--deficient chronic granulomatous disease.
Aoshima M; Nunoi H; Shimazu M; Shimizu S; Tatsuzawa O; Kenney RT; Kanegasaki S
Blood; 1996 Sep; 88(5):1841-5. PubMed ID: 8781442
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Activation of cryptic splice sites in three patients with chronic granulomatous disease.
de Boer M; van Leeuwen K; Hauri-Hohl M; Roos D
Mol Genet Genomic Med; 2019 Sep; 7(9):e854. PubMed ID: 31364312
[TBL] [Abstract][Full Text] [Related]
5. Nicotinamide-adenine dinucleotide phosphate oxidase assembly and activation in EBV-transformed B lymphoblastoid cell lines of normal and chronic granulomatous disease patients.
Dusi S; Nadalini KA; Donini M; Zentilin L; Wientjes FB; Roos D; Giacca M; Rossi F
J Immunol; 1998 Nov; 161(9):4968-74. PubMed ID: 9794433
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. Splice site mutations are a common cause of X-linked chronic granulomatous disease.
de Boer M; Bolscher BG; Dinauer MC; Orkin SH; Smith CI; Ahlin A; Weening RS; Roos D
Blood; 1992 Sep; 80(6):1553-8. PubMed ID: 1520880
[TBL] [Abstract][Full Text] [Related]
10. p40phox, a third cytosolic component of the activation complex of the NADPH oxidase to contain src homology 3 domains.
Wientjes FB; Hsuan JJ; Totty NF; Segal AW
Biochem J; 1993 Dec; 296 ( Pt 3)(Pt 3):557-61. PubMed ID: 8280052
[TBL] [Abstract][Full Text] [Related]
11. In vitro molecular reconstitution of the respiratory burst in B lymphoblasts from p47-phox-deficient chronic granulomatous disease.
Volpp BD; Lin Y
J Clin Invest; 1993 Jan; 91(1):201-7. PubMed ID: 7678602
[TBL] [Abstract][Full Text] [Related]
12. Hypoxic induction of gene expression in chronic granulomatous disease-derived B-cell lines: oxygen sensing is independent of the cytochrome b558-containing nicotinamide adenine dinucleotide phosphate oxidase.
Wenger RH; Marti HH; Schuerer-Maly CC; Kvietikova I; Bauer C; Gassmann M; Maly FE
Blood; 1996 Jan; 87(2):756-61. PubMed ID: 8555500
[TBL] [Abstract][Full Text] [Related]
13. Identification of a double mutation (D160V-K161E) in the p67phox gene of a chronic granulomatous disease patient.
Bonizzato A; Russo MP; Donini M; Dusi S
Biochem Biophys Res Commun; 1997 Feb; 231(3):861-3. PubMed ID: 9070911
[TBL] [Abstract][Full Text] [Related]
14. Characterization of the p67phox gene: genomic organization and restriction fragment length polymorphism analysis for prenatal diagnosis in chronic granulomatous disease.
Kenney RT; Malech HL; Epstein ND; Roberts RL; Leto TL
Blood; 1993 Dec; 82(12):3739-44. PubMed ID: 7903171
[TBL] [Abstract][Full Text] [Related]
15. Topological organization of the cytosolic activating complex of the superoxide-generating NADPH-oxidase. Pinpointing the sites of interaction between p47phoz, p67phox and p40phox using the two-hybrid system.
Fuchs A; Dagher MC; Fauré J; Vignais PV
Biochim Biophys Acta; 1996 Jun; 1312(1):39-47. PubMed ID: 8679714
[TBL] [Abstract][Full Text] [Related]
16. Rac translocates independently of the neutrophil NADPH oxidase components p47phox and p67phox. Evidence for its interaction with flavocytochrome b558.
Heyworth PG; Bohl BP; Bokoch GM; Curnutte JT
J Biol Chem; 1994 Dec; 269(49):30749-52. PubMed ID: 7982999
[TBL] [Abstract][Full Text] [Related]
17. Mutational analysis of patients with p47-phox-deficient chronic granulomatous disease: The significance of recombination events between the p47-phox gene (NCF1) and its highly homologous pseudogenes.
Vázquez N; Lehrnbecher T; Chen R; Christensen BL; Gallin JI; Malech H; Holland S; Zhu S; Chanock SJ
Exp Hematol; 2001 Feb; 29(2):234-43. PubMed ID: 11166463
[TBL] [Abstract][Full Text] [Related]
18. An unusual intronic mutation in the CYBB gene giving rise to chronic granulomatous disease.
Noack D; Heyworth PG; Newburger PE; Cross AR
Biochim Biophys Acta; 2001 Sep; 1537(2):125-31. PubMed ID: 11566256
[TBL] [Abstract][Full Text] [Related]
19. Impaired p47phox phosphorylation in neutrophils from patients with p67phox-deficient chronic granulomatous disease.
Belambri SA; Marzaioli V; Hurtado-Nedelec M; Pintard C; Liang S; Liu Y; Boussetta T; Gougerot-Pocidalo MA; Ye RD; Dang PM; El-Benna J
Blood; 2022 Apr; 139(16):2512-2522. PubMed ID: 35108370
[TBL] [Abstract][Full Text] [Related]
20. Rapid detection of intracellular p47phox and p67phox by flow cytometry; useful screening tests for chronic granulomatous disease.
Wada T; Muraoka M; Toma T; Imai T; Shigemura T; Agematsu K; Haraguchi K; Moriuchi H; Oh-Ishi T; Kitoh T; Ohara O; Morio T; Yachie A
J Clin Immunol; 2013 May; 33(4):857-64. PubMed ID: 23306776
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
