Genetic and biochemical background of chronic granulomatous disease.
Genetic and biochemical background of chronic granulomatous disease.
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慢性肉芽肿病的遗传和生化背景。
DOI：
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发表时间：
2004
影响因子：
3.2
通讯作者：
J. Bal
中科院分区：
文献类型：
--
作者：
M. Jurkowska;E. Bernatowska;J. Bal
Chronic granulomatous disease (CGD) is a rare inherited immunodeficiency syndrome caused by a profound defect in the oxygen metabolic burst machinery. Activity of NADPH oxidase is absent or profoundly diminished, as at least one of its components (gp91(phox), p22(phox), p47(phox) and p67(phox)) is lacking or non-functional. This review explains the molecular basis of NADPH oxidase dysfunction by the effects of mutations in genes coding for particular oxidase components. Among the four types of CGD, the most common is X-linked CGD (approximately 65%), with defects in the CYBB gene encoding gp91(phox). A wide spectrum of mutations has been described in the CYBB gene with no predominant genotype. The second most common subtype of CGD caused by NCF1 mutation accounts for 30% of CGD patients and is inherited in an autosomal recessive manner, with predominance of a homozygotous deltaGT deletion in the genotype. The other two CGD subtypes having an autosomal recessive pattern together account for no more than 10% of CGD cases. A strategy for the molecular diagnostics in CGD patients is proposed and principles of genetic counseling are discussed here.
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由烟酰胺腺嘌呤二核苷酸磷酸（还原型）氧化酶成分 p67-phox 缺陷引起的常染色体隐性慢性肉芽肿性疾病的分子特征。
影响因子：
20.3
作者：
Patiño,PJ;Rae,J;Noack,D;Erickson,R;Ding,J;deOlarte,DG;Curnutte,JT
通讯作者：
Curnutte,JT
威廉姆斯综合征中人类 7 号染色体缺失区域的比较图谱。
影响因子：
7
作者：
DeSilva,U;Massa,H;Trask,BJ;Green,ED
通讯作者：
Green,ED
影响因子：
15.9
作者：
Gorlach, A;Lee, PL;Curnutte, JT
通讯作者：
Curnutte, JT
分子质量控制机制导致慢性肉芽肿病中白细胞 NADPH 氧化酶缺乏。
DOI：
10.1016/s0925-4439(01)00106-5
发表时间：
2002
期刊：
Biochimica et biophysica acta
影响因子：
--
作者：
Lin,Shio-Jean;Huang,Ya-Fang;Chen,Jing-Yi;Heyworth,PaulG;Noack,Deborah;Wang,Ji-Yao;Lin,Ching-Yuan;Chiang,Bor-Luen;Yang,Chin-Mu;Liu,Ching-Chuan;Shieh,Chi-Chang
通讯作者：
Shieh,Chi-Chang
DOI：
10.1016/j.bcmd.2010.01.009
发表时间：
2010-04-15
期刊：
Blood cells, molecules & diseases
影响因子：
--
作者：
Roos D;Kuhns DB;Maddalena A;Bustamante J;Kannengiesser C;de Boer M;van Leeuwen K;Köker MY;Wolach B;Roesler J;Malech HL;Holland SM;Gallin JI;Stasia MJ
通讯作者：
Stasia MJ