-
1
-
-
0025976579
-
Molecular basis of chronic granulomatous disease
-
Smith M, Curnutte T: Molecular basis of chronic granulomatous disease. Blood 77:673, 1991
-
(1991)
Blood
, vol.77
, pp. 673
-
-
Smith, M.1
Curnutte, T.2
-
2
-
-
0028915263
-
Characterization of the superoxide-generating system in human peripheral lymphocytes and lymphoid lines
-
Kobayashi S, Imajoh-Ohmi S, Kuribayashi F, Nunoi H, Nakamura M, Kanegasaki S: Characterization of the superoxide-generating system in human peripheral lymphocytes and lymphoid lines. J Biochem 117:758, 1995
-
(1995)
J Biochem
, vol.117
, pp. 758
-
-
Kobayashi, S.1
Imajoh-Ohmi, S.2
Kuribayashi, F.3
Nunoi, H.4
Nakamura, M.5
Kanegasaki, S.6
-
3
-
-
0022976736
-
Stoichiometric conversion of oxygen to superoxide anion during the respiratory burst in neutrophile
-
Makino R, Tanaka T, Iizuka T, Ishimura Y, Kanegasaki S: Stoichiometric conversion of oxygen to superoxide anion during the respiratory burst in neutrophile. J Biol Chem 261:11444, 1986
-
(1986)
J Biol Chem
, vol.261
, pp. 11444
-
-
Makino, R.1
Tanaka, T.2
Iizuka, T.3
Ishimura, Y.4
Kanegasaki, S.5
-
4
-
-
0024232859
-
Two forms of autosomal chronic granulomatous disease lack distinct neutrophil cytosol factors
-
Nunoi H, Rotrosen D, Gallin JI, Malech HL: Two forms of autosomal chronic granulomatous disease lack distinct neutrophil cytosol factors. Science 242:1298, 1988
-
(1988)
Science
, vol.242
, pp. 1298
-
-
Nunoi, H.1
Rotrosen, D.2
Gallin, J.I.3
Malech, H.L.4
-
5
-
-
0027262939
-
558 allows reconstitution of the phagocyte NADPH oxidase solely from recombinant proteins
-
558 allows reconstitution of the phagocyte NADPH oxidase solely from recombinant proteins. J Biol Chem 268:14256, 1993
-
(1993)
J Biol Chem
, vol.268
, pp. 14256
-
-
Rotrosen, D.1
Yeung, C.L.2
Katkin, J.P.3
-
6
-
-
0026642394
-
Cytochrome b-245 is a flavocytochrome containing FAD and the NADPH-binding site of the microbicidal oxidase of phagocytes
-
Segal AW, West I, Wientjes F, Nugent JH, Chavan AJ, Haley B, Garcia RC, Rosen H, Scrace G: Cytochrome b-245 is a flavocytochrome containing FAD and the NADPH-binding site of the microbicidal oxidase of phagocytes. Biochem J 284:781, 1992
-
(1992)
Biochem J
, vol.284
, pp. 781
-
-
Segal, A.W.1
West, I.2
Wientjes, F.3
Nugent, J.H.4
Chavan, A.J.5
Haley, B.6
Garcia, R.C.7
Rosen, H.8
Scrace, G.9
-
7
-
-
0028183399
-
The genetic basis of chronic granulomatous disease
-
Roos D: The genetic basis of chronic granulomatous disease. Immunol Rev 138:121, 1994
-
(1994)
Immunol Rev
, vol.138
, pp. 121
-
-
Roos, D.1
-
8
-
-
0022494269
-
Cloning the gene for an inherited human disorder - chronic granulomatous disease - on the basis of its chromosomal location
-
Royer PB, Kunkel LM, Monaco AP, Goff SC, Newburger PE, Baehner RL, Cole FS, Curnutte JT, Orkin SH: Cloning the gene for an inherited human disorder - chronic granulomatous disease - on the basis of its chromosomal location. Nature 322:32, 1986
-
(1986)
Nature
, vol.322
, pp. 32
-
-
Royer, P.B.1
Kunkel, L.M.2
Monaco, A.P.3
Goff, S.C.4
Newburger, P.E.5
Baehner, R.L.6
Cole, F.S.7
Curnutte, J.T.8
Orkin, S.H.9
-
9
-
-
0023191301
-
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: The X-linked chronic granulomatous disease gene codes for the beta-chain of cytochrome b-245. Nature 327:720, 1987
-
(1987)
Nature
, vol.327
, pp. 720
-
-
Teahan, C.1
Rowe, P.2
Parker, P.3
Totty, N.4
Segal, A.W.5
-
11
-
-
0023483148
-
Purified cytochrome b from human granulocyte plasma membrane is comprised of two polypeptides with relative molecular weights of 91,000 and 22,000
-
Parkos CA, Allen RA, Cochrane CG, Jesaitis AJ: Purified cytochrome b from human granulocyte plasma membrane is comprised of two polypeptides with relative molecular weights of 91,000 and 22,000. J Clin Invest 80:732, 1987
-
(1987)
J Clin Invest
, vol.80
, pp. 732
-
-
Parkos, C.A.1
Allen, R.A.2
Cochrane, C.G.3
Jesaitis, A.J.4
-
12
-
-
1842350863
-
Primary structure and unique expression of the 22-kilodalton light chain of human neutrophil cytochrome b
-
Parkos CA, Dinauer MC, Walker LE, Allen RA, Jesaitis AJ, Orkin SH: Primary structure and unique expression of the 22-kilodalton light chain of human neutrophil cytochrome b. Proc Natl Acad Sci USA 85:3319, 1988
-
(1988)
Proc Natl Acad Sci USA
, vol.85
, pp. 3319
-
-
Parkos, C.A.1
Dinauer, M.C.2
Walker, L.E.3
Allen, R.A.4
Jesaitis, A.J.5
Orkin, S.H.6
-
13
-
-
0024376120
-
Recombinant 47-kilodalton cytosol factor restores NADPH oxidase in chronic granulomatous disease
-
published erratum appears in Science 246:987, 1989.
-
Lomax KJ, Leto TL, Nunoi H, Gallin JI, Malech HL: Recombinant 47-kilodalton cytosol factor restores NADPH oxidase in chronic granulomatous disease [published erratum appears in Science 246:987, 1989]. Science 245:409, 1989
-
(1989)
Science
, vol.245
, pp. 409
-
-
Lomax, K.J.1
Leto, T.L.2
Nunoi, H.3
Gallin, J.I.4
Malech, H.L.5
-
14
-
-
0025292583
-
Cloning of a 67-kD neutrophil oxidase factor with similarity to a noncatalytic region of p60c-src
-
Leto TL, Lomax KJ, Volpp BD, Nunoi H, Sechler JM, Nauseef WM, Clark RA, Gallin JI, Malech HL: Cloning of a 67-kD neutrophil oxidase factor with similarity to a noncatalytic region of p60c-src. Science 248:727, 1990
-
(1990)
Science
, vol.248
, pp. 727
-
-
Leto, T.L.1
Lomax, K.J.2
Volpp, B.D.3
Nunoi, H.4
Sechler, J.M.5
Nauseef, W.M.6
Clark, R.A.7
Gallin, J.I.8
Malech, H.L.9
-
15
-
-
0027332541
-
Characterization of the p67-phox 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: Characterization of the p67-phox gene: Genomic organization and restriction fragment length polymorphism analysis for prenatal diagnosis in chronic granulomatous disease. Blood 82:3739, 1993
-
(1993)
Blood
, vol.82
, pp. 3739
-
-
Kenney, R.T.1
Malech, H.L.2
Epstein, N.D.3
Roberts, R.L.4
Leto, T.L.5
-
16
-
-
0025944684
-
Activation of the NADPH oxidase involves the small GTP-binding protein p21rac 1
-
Abo A, Pick E, Hall A, Totty N, Teahan CG, Segal AW: Activation of the NADPH oxidase involves the small GTP-binding protein p21rac 1. Nature 353:668, 1991
-
(1991)
Nature
, vol.353
, pp. 668
-
-
Abo, A.1
Pick, E.2
Hall, A.3
Totty, N.4
Teahan, C.G.5
Segal, A.W.6
-
17
-
-
0026335622
-
Regulation of phagocyte oxygen radical production by the GTP-binding protein Rac 2
-
Knaus UG, Hey worth PG, Evans T, Curnutte JT, Bokoch GM: Regulation of phagocyte oxygen radical production by the GTP-binding protein Rac 2. Science 254:1512, 1991
-
(1991)
Science
, vol.254
, pp. 1512
-
-
Knaus, U.G.1
Hey Worth, P.G.2
Evans, T.3
Curnutte, J.T.4
Bokoch, G.M.5
-
18
-
-
0024425981
-
rac, a novel ras related family of proteins that are botulinum toxin substrates
-
Didsbury J, Weber RF, Bokoch GM, Evans T, Snyderman R: rac, a novel ras related family of proteins that are botulinum toxin substrates. J Biol Chem 264:16378, 1989
-
(1989)
J Biol Chem
, vol.264
, pp. 16378
-
-
Didsbury, J.1
Weber, R.F.2
Bokoch, G.M.3
Evans, T.4
Snyderman, R.5
-
19
-
-
0342266916
-
Cloning of the cDNA and functional expression of the 47-kilodalton cytosolic component of human neutrophil respiratory burst oxidase
-
Volpp BD, Nauseef WM, Donelson JE, Moser DR, Clark RA: Cloning of the cDNA and functional expression of the 47-kilodalton cytosolic component of human neutrophil respiratory burst oxidase. Proc Natl Acad Sci USA 86:7195, 1989
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 7195
-
-
Volpp, B.D.1
Nauseef, W.M.2
Donelson, J.E.3
Moser, D.R.4
Clark, R.A.5
-
20
-
-
0024453201
-
Genetic variants of chronic granulomatous disease: Prevalence of deficiencies of two cytosolic components of NADPH oxidase system
-
Clark R, Malech H, Gallin J, Nunoi H, Volp B, Pearson D, Nauseef W, Curnutte J: Genetic variants of chronic granulomatous disease: Prevalence of deficiencies of two cytosolic components of NADPH oxidase system. N Engl J Med 321:647, 1989
-
(1989)
N Engl J Med
, vol.321
, pp. 647
-
-
Clark, R.1
Malech, H.2
Gallin, J.3
Nunoi, H.4
Volp, B.5
Pearson, D.6
Nauseef, W.7
Curnutte, J.8
-
21
-
-
0026708307
-
Identification of the defective NADPH-oxidase component in chronic granulomatous disease: A study of 57 European families
-
Casimir CM, Chetty M, Bohler MC, Garcia R, Fischer A, Griscelli C, Johnson B, Segal AW: Identification of the defective NADPH-oxidase component in chronic granulomatous disease: A study of 57 European families. Eur J Clin Invest 22:403, 1992
-
(1992)
Eur J Clin Invest
, vol.22
, pp. 403
-
-
Casimir, C.M.1
Chetty, M.2
Bohler, M.C.3
Garcia, R.4
Fischer, A.5
Griscelli, C.6
Johnson, B.7
Segal, A.W.8
-
22
-
-
0025727361
-
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: Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat. Proc Natl Acad Sci USA 88:2753, 1991
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 2753
-
-
Casimir, C.M.1
Bu-Ghanim, H.N.2
Rodaway, A.R.3
Bentley, D.L.4
Rowe, P.5
Segal, A.W.6
-
23
-
-
0027498398
-
In vitro molecular reconstitution of the respiratory burst in B Iymphoblasts from p47-phox-deficient chronic granulomatous disease
-
Volpp BD, Lin Y: In vitro molecular reconstitution of the respiratory burst in B Iymphoblasts from p47-phox-deficient chronic granulomatous disease. J Clin Invest 91:201, 1993
-
(1993)
J Clin Invest
, vol.91
, pp. 201
-
-
Volpp, B.D.1
Lin, Y.2
-
24
-
-
0028235329
-
Homologous dinucleotide (GT or TG) deletion in Japanese patients with choronic granulomatous disease with p47-phox deficiency
-
Iwata M, Nunoi H, Yamazaki H, Nakano T, Niwa H, Tsuruta S, Ohga S, Ohmi S, Kanegasaki S, Matsuda I: Homologous dinucleotide (GT or TG) deletion in Japanese patients with choronic granulomatous disease with p47-phox deficiency. Biochem Biophys Res Commun 199:1372, 1994
-
(1994)
Biochem Biophys Res Commun
, vol.199
, pp. 1372
-
-
Iwata, M.1
Nunoi, H.2
Yamazaki, H.3
Nakano, T.4
Niwa, H.5
Tsuruta, S.6
Ohga, S.7
Ohmi, S.8
Kanegasaki, S.9
Matsuda, I.10
-
25
-
-
4244178498
-
Gene structure of the cytosolic component, phox-47 and mutations in autosomal recessive chronic granulomatous disease
-
abstr
-
Chanock SJ, Barrett DM, Curnutte JC, Orkin SH: Gene structure of the cytosolic component, phox-47 and mutations in autosomal recessive chronic granulomatous disease. Blood 78:165a, 1991 (abstr, suppl 1)
-
(1991)
Blood
, vol.78
, Issue.1 SUPPL.
-
-
Chanock, S.J.1
Barrett, D.M.2
Curnutte, J.C.3
Orkin, S.H.4
-
26
-
-
0029078259
-
AG dinucleotide insertion in a patient with chronic granulomatous disease lacking cytosolic 67-kD protein
-
Nunoi H, Iwata M, Tatsuzawa S, Onoe Y, Shimizu S, Kanegasaki S, Matsuda I: AG dinucleotide insertion in a patient with chronic granulomatous disease lacking cytosolic 67-kD protein. Blood 86:329, 1995
-
(1995)
Blood
, vol.86
, pp. 329
-
-
Nunoi, H.1
Iwata, M.2
Tatsuzawa, S.3
Onoe, Y.4
Shimizu, S.5
Kanegasaki, S.6
Matsuda, I.7
-
27
-
-
0028088842
-
Autosomal recessive chronic granulomatous disease with absence of the 67-kD cytosolic NADPH oxidase component: Identification of mutation and detection of carriers
-
de Boer M, Hilarius SP, Hossle JP, Verhoeven AJ, Graf N, Kenney RT, Seger R, Roos D: Autosomal recessive chronic granulomatous disease with absence of the 67-kD cytosolic NADPH oxidase component: Identification of mutation and detection of carriers. Blood 83:531, 1994
-
(1994)
Blood
, vol.83
, pp. 531
-
-
De Boer, M.1
Hilarius, S.P.2
Hossle, J.P.3
Verhoeven, A.J.4
Graf, N.5
Kenney, R.T.6
Seger, R.7
Roos, D.8
-
28
-
-
0028852394
-
A mutation located at the 5′ splice junction sequence of intron 3 in the p67-phox gene causes the lack of p67-phax mRNA in a patient with chronic granulomatous disease
-
Tanugi-Cholley LC, Issartel J, Lunardi J, Freycon F, Morel F, Vignais PV: A mutation located at the 5′ splice junction sequence of intron 3 in the p67-phox gene causes the lack of p67-phax mRNA in a patient with chronic granulomatous disease. Blood 85:242, 1995
-
(1995)
Blood
, vol.85
, pp. 242
-
-
Tanugi-Cholley, L.C.1
Issartel, J.2
Lunardi, J.3
Freycon, F.4
Morel, F.5
Vignais, P.V.6
-
29
-
-
0023651307
-
RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression
-
Shapiro MB, Senapathy P: RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression. Nucleic Acids Res 15:7155, 1987
-
(1987)
Nucleic Acids Res
, vol.15
, pp. 7155
-
-
Shapiro, M.B.1
Senapathy, P.2
-
30
-
-
0027320778
-
'Cold SSCP': A simple, rapid and non-radioactive method for optimized single-strand conformation polymorphism
-
Hongyo T, Buzard GS, Calvert RJ, Weghorst M: 'Cold SSCP': A simple, rapid and non-radioactive method for optimized single-strand conformation polymorphism. Nucleic Acids Res 21:3637, 1993
-
(1993)
Nucleic Acids Res
, vol.21
, pp. 3637
-
-
Hongyo, T.1
Buzard, G.S.2
Calvert, R.J.3
Weghorst, M.4
-
31
-
-
0027991794
-
p67-phox enhances the binding of p41-phox to the human neutrophil respiratory burst oxidase complex
-
Uhlinger DJ, Tyagi SR, Inge KL, Lambeth JD: p67-phox enhances the binding of p41-phox to the human neutrophil respiratory burst oxidase complex. J Biol Chem 269:22095, 1994
-
(1994)
J Biol Chem
, vol.269
, pp. 22095
-
-
Uhlinger, D.J.1
Tyagi, S.R.2
Inge, K.L.3
Lambeth, J.D.4
-
32
-
-
0028301334
-
Role of Src homology 3 domains in assembly and activation of the phagocyte NADPH oxidase
-
Sumimoto H, Kage Y, Nunoi H, Sasaki H, Nose T, Fukumaki Y, Ohno M, Minakami S, Takeshige K: Role of Src homology 3 domains in assembly and activation of the phagocyte NADPH oxidase. Proc Natl Acad Sci USA 91:5345, 1994
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 5345
-
-
Sumimoto, H.1
Kage, Y.2
Nunoi, H.3
Sasaki, H.4
Nose, T.5
Fukumaki, Y.6
Ohno, M.7
Minakami, S.8
Takeshige, K.9
-
33
-
-
0028264405
-
Role of p67-phox SH3 domains in assembly of the NADPH oxidase system
-
de Mendez I, Garrett M, Adams A, Leto T: Role of p67-phox SH3 domains in assembly of the NADPH oxidase system. J Biol Chem 269:16326, 1994
-
(1994)
J Biol Chem
, vol.269
, pp. 16326
-
-
De Mendez, I.1
Garrett, M.2
Adams, A.3
Leto, T.4
-
34
-
-
0026607344
-
Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene
-
Steingrimsdottir H, Rowley G, Dorado G, Cole J, Kehmann A: Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene. Nucleic Acids Res 20:1201, 1992
-
(1992)
Nucleic Acids Res
, vol.20
, pp. 1201
-
-
Steingrimsdottir, H.1
Rowley, G.2
Dorado, G.3
Cole, J.4
Kehmann, A.5
-
35
-
-
0026726139
-
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: Splice site mutations are a common cause of X-linked chronic granulomatous disease. Blood 80:1553, 1992
-
(1992)
Blood
, vol.80
, pp. 1553
-
-
De Boer, M.1
Bolscher, B.G.2
Dinauer, M.C.3
Orkin, S.H.4
Smith, C.I.5
Ahlin, A.6
Weening, R.S.7
Roos, D.8
-
36
-
-
0026616852
-
558 light chain of the NADPH oxidase (p22-phox)
-
558 light chain of the NADPH oxidase (p22-phox). Am J Hum Genet 51:1127, 1992
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1127
-
-
De Boer, M.1
De, K.A.2
Hossle, J.P.3
Seger, R.4
Corbeel, L.5
Weening, R.S.6
Roos, D.7
-
37
-
-
0028012448
-
Deficiency of the E1β subunit in the branched-chain α-keto acid dehydrogenase complex due to a single base substitution of the intron 5, resulting in two alternatively spliced mRNAs in a patient with maple syrup urine disease
-
Hayashida Y, Mitsubuchi H, Indo Y, Ohta K, Endo F, Wada Y, Matsuda I: Deficiency of the E1β subunit in the branched-chain α-keto acid dehydrogenase complex due to a single base substitution of the intron 5, resulting in two alternatively spliced mRNAs in a patient with maple syrup urine disease. Biochim Biophys Acta 1225:317, 1995
-
(1995)
Biochim Biophys Acta
, vol.1225
, pp. 317
-
-
Hayashida, Y.1
Mitsubuchi, H.2
Indo, Y.3
Ohta, K.4
Endo, F.5
Wada, Y.6
Matsuda, I.7
-
38
-
-
0027288912
-
The role of exon sequences in splice site selection
-
Watanabe A, Tanaka K, Shimura Y: The role of exon sequences in splice site selection. Genes Dev 7:407, 1992
-
(1992)
Genes Dev
, vol.7
, pp. 407
-
-
Watanabe, A.1
Tanaka, K.2
Shimura, Y.3
|