[1]
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NUCLEOTIDE SEQUENCE [MRNA].
PubMed=2425263 [NCBI, ExPASy, EBI, Israel, Japan]
Royer-Pokora B.,
Kunkel L.M.,
Monaco A.P.,
Goff S.C.,
Newburger P.E.,
Baehner R.L.,
Cole F.S.,
Curnutte J.T.,
Orkin S.H.;
"Cloning the gene for an inherited human disorder -- chronic granulomatous disease -- on the basis of its chromosomal location.";
Nature 322:32-38(1986).
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[2]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS X-CGD ASP-41 AND ARG-537, AND VARIANTS ARG-364 AND GLU-517.
DOI=10.1006/clim.2002.5230; PubMed=12139950 [NCBI, ExPASy, EBI, Israel, Japan]
Jirapongsananuruk O.,
Niemela J.E.,
Malech H.L.,
Fleisher T.A.;
"CYBB mutation analysis in X-linked chronic granulomatous disease.";
Clin. Immunol. 104:73-76(2002).
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[3]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
NHLBI resequencing and genotyping service (RS&G);
Submitted (DEC-2005) to the EMBL/GenBank/DDBJ databases.
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Lymph;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[5]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-135.
DOI=10.1038/327717a0; PubMed=3600768 [NCBI, ExPASy, EBI, Israel, Japan]
Dinauer M.C.,
Orkin S.H.,
Brown R.,
Jesaitis A.J.,
Parkos C.A.;
"The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex.";
Nature 327:717-720(1987).
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[6]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 233-267.
TISSUE=Peripheral blood;
DOI=10.1006/geno.1998.5510; PubMed=9790760 [NCBI, ExPASy, EBI, Israel, Japan]
Kumatori A.,
Faizunnessa N.N.,
Suzuki S.,
Moriuchi T.,
Kurozumi H.,
Nakamura M.;
"Nonhomologous recombination between the cytochrome b558 heavy chain gene (CYBB) and LINE-1 causes an X-linked chronic granulomatous disease.";
Genomics 53:123-128(1998).
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[7]
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PROTEIN SEQUENCE OF 2-44.
DOI=10.1038/327720a0; PubMed=3600769 [NCBI, ExPASy, EBI, Israel, Japan]
Teahan C.,
Rowe P.,
Parker P.,
Totty N.,
Segal A.W.;
"The X-linked chronic granulomatous disease gene codes for the beta-chain of cytochrome b-245.";
Nature 327:720-721(1987).
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[8]
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CHARACTERIZATION AS A PROTON CHANNEL.
PubMed=10578014 [NCBI, ExPASy, EBI, Israel, Japan]
Henderson L.M.,
Meech R.W.;
"Evidence that the product of the human X-linked CGD gene, gp91-phox, is a voltage-gated H(+) pathway.";
J. Gen. Physiol. 114:771-786(1999).
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[9]
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VARIANT X-CGD HIS-415.
PubMed=2556453 [NCBI, ExPASy, EBI, Israel, Japan]
Dinauer M.C.,
Curnutte J.T.,
Rosen H.R.,
Orkin S.H.;
"A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease.";
J. Clin. Invest. 84:2012-2016(1989).
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[10]
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VARIANTS X-CGD ARG-101; THR-156; TYR-209; SER-244 AND ALA-389.
PubMed=1710153 [NCBI, ExPASy, EBI, Israel, Japan]
Bolscher B.G.J.M.,
de Boer M.,
de Klein A.,
Weening R.S.,
Roos D.;
"Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease.";
Blood 77:2482-2487(1991).
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[11]
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VARIANT X-CGD GLU-57.
DOI=10.1007/BF01955051; PubMed=8101486 [NCBI, ExPASy, EBI, Israel, Japan]
Ariga T.,
Sakiyama Y.,
Tomizawa K.,
Imajoh-Ohmi S.,
Kanegasaki S.,
Matsumoto S.;
"A newly recognized point mutation in the cytochrome b558 heavy chain gene replacing alanine57 by glutamic acid, in a patient with cytochrome b positive X-linked chronic granulomatous disease.";
Eur. J. Pediatr. 152:469-472(1993).
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[12]
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VARIANT X-CGD HIS-339.
DOI=10.1007/BF00201609; PubMed=7927345 [NCBI, ExPASy, EBI, Israel, Japan]
Ariga T.,
Sakiyama Y.,
Matsumoto S.;
"Two novel point mutations in the cytochrome b 558 heavy chain gene, detected in two Japanese patients with X-linked chronic granulomatous disease.";
Hum. Genet. 94:441-441(1994).
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[13]
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VARIANT X-CGD GLY-500.
PubMed=8182143 [NCBI, ExPASy, EBI, Israel, Japan]
Leusen J.H.W.,
de Boer M.,
Bolscher B.G.J.M.,
Hilarius P.M.,
Weening R.S.,
Ochs H.D.,
Roos D.,
Verhoeven A.J.;
"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.";
J. Clin. Invest. 93:2120-2126(1994).
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[14]
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VARIANTS X-CGD ILE-205; PHE-215 DEL AND GLN-342.
PubMed=8916969 [NCBI, ExPASy, EBI, Israel, Japan]
Hui Y.F.,
Chan S.Y.,
Lau Y.L.;
"Identification of mutations in seven Chinese patients with X-linked chronic granulomatous disease.";
Blood 88:4021-4028(1996).
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[15]
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ERRATUM.
Hui Y.F.,
Chan S.Y.,
Lau Y.L.;
Blood 89:1843-1843(1996).
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[16]
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VARIANT X-CGD PHE-215 DEL.
PubMed=9111587 [NCBI, ExPASy, EBI, Israel, Japan]
Jendrossek V.,
Ritzel A.,
Neubauer B.,
Heyden S.,
Gahr M.;
"An in-frame triplet deletion within the gp91-phox gene in an adult X-linked chronic granulomatous disease patient with residual NADPH-oxidase activity.";
Eur. J. Haematol. 58:78-85(1997).
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[17]
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VARIANTS X-CGD ARG-20; SER-54; ARG-59; ARG-119; THR-156; GLN-209; ASN-222; ARG-222; TYR-222; LEU-223; ARG-244; LYS-309; LYS-315 DEL; GLU-322; PHE-325; PRO-333; HIS-339; PRO-356; ARG-405; GLU-408; ARG-408; HIS-415; LEU-415; PRO-422; ARG-453; CYS-516; ASP-534 AND ARG-537.
DOI=10.1086/301874; PubMed=9585602 [NCBI, ExPASy, EBI, Israel, Japan]
Rae J.,
Newburger P.E.,
Dinauer M.C.,
Noack D.,
Hopkins P.J.,
Kuruto R.,
Curnutte J.T.;
"X-linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.";
Am. J. Hum. Genet. 62:1320-1331(1998).
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[18]
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VARIANT X-CGD TYR-101.
DOI=10.1007/s004390050836; PubMed=9856476 [NCBI, ExPASy, EBI, Israel, Japan]
Tsuda M.,
Kaneda M.,
Sakiyama T.,
Inana I.,
Owada M.,
Kiryu C.,
Shiraishi T.,
Kakinuma K.;
"A novel mutation at a probable heme-binding ligand in neutrophil cytochrome b558 in atypical X-linked chronic granulomatous disease.";
Hum. Genet. 103:377-381(1998).
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[19]
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VARIANTS X-CGD ARG-179 AND 298-THR--THR-302 DEL.
PubMed=9794433 [NCBI, ExPASy, EBI, Israel, Japan]
Dusi S.,
Nadalini K.A.,
Donini M.,
Zentilin L.,
Wientjes F.B.,
Roos D.,
Giacca M.,
Rossi F.;
"Nicotinamide-adenine dinucleotide phosphate oxidase assembly and activation in EBV-transformed B lymphoblastoid cell lines of normal and chronic granulomatous disease patients.";
J. Immunol. 161:4968-4974(1998).
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[20]
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VARIANTS X-CGD MET-54; ASP-55; GLU-57; HIS-339 AND PHE-344.
DOI=10.1203/00006450-199807000-00014; PubMed=9667376 [NCBI, ExPASy, EBI, Israel, Japan]
Ariga T.,
Furuta H.,
Cho K.,
Sakiyama Y.;
"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.";
Pediatr. Res. 44:85-92(1998).
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[21]
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VARIANTS X-CGD PHE-193; ARG-222; TYR-338; HIS-339 AND PRO-546, AND VARIANT ARG-364.
PubMed=10089913 [NCBI, ExPASy, EBI, Israel, Japan]
Roesler J.,
Heyden S.,
Burdelski M.,
Schaefer H.,
Kreth H.-W.,
Lehmann R.,
Paul D.,
Marzahn J.,
Gahr M.,
Roesen-Wolff A.;
"Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease.";
Exp. Hematol. 27:505-511(1999).
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[22]
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VARIANTS X-CGD VAL-225 AND TYR-244.
DOI=10.1002/(SICI)1098-1004(1999)13:1<29::AID-HUMU3>3.0.CO;2-X; PubMed=9888386 [NCBI, ExPASy, EBI, Israel, Japan]
Patino P.J.,
Perez J.E.,
Lopez J.A.,
Condino-Neto A.,
Grumach A.S.,
Botero J.H.,
Curnutte J.T.,
Garcia de Olarte D.;
"Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox.";
Hum. Mutat. 13:29-37(1999).
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[23]
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VARIANTS X-CGD MET-54; ASP-55; GLU-57; TYR-101; ARG-209; GLY-224; LYS-309; TYR-338; HIS-339; PHE-344; GLU-389; PRO-420 AND ARG-516.
DOI=10.1007/s004390000288; PubMed=10914676 [NCBI, ExPASy, EBI, Israel, Japan]
Ishibashi F.,
Nunoi H.,
Endo F.,
Matsuda I.,
Kanegasaki S.;
"Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.";
Hum. Genet. 106:473-481(2000).
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[24]
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VARIANTS X-CGD 54-ARG-ALA-55 DEL; TRP-59; PRO-307 AND ARG-505.
DOI=10.1002/humu.1166; PubMed=11462241 [NCBI, ExPASy, EBI, Israel, Japan]
Gerard B.,
El Benna J.,
Alcain F.,
Gougerot-Pocidalo M.-A.,
Grandchamp B.,
Chollet-Martin S.;
"Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene).";
Hum. Mutat. 18:163-163(2001).
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[25]
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VARIANTS X-CGD ASN-303 AND ARG-304.
DOI=10.1016/S0925-4439(01)00110-7; PubMed=11997083 [NCBI, ExPASy, EBI, Israel, Japan]
Stasia M.J.,
Lardy B.,
Maturana A.,
Rousseau P.,
Martel C.,
Bordigoni P.,
Demaurex N.,
Morel F.;
"Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail.";
Biochim. Biophys. Acta 1586:316-330(2002).
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[26]
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CHARACTERIZATION OF VARIANTS X-CGD ASN-303 AND ARG-304.
DOI=10.1007/s00439-004-1173-z; PubMed=15338276 [NCBI, ExPASy, EBI, Israel, Japan]
Bionda C.,
Li X.J.,
van Bruggen R.,
Eppink M.,
Roos D.,
Morel F.,
Stasia M.-J.;
"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.";
Hum. Genet. 115:418-427(2004).
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