Literature DB >> 8655140

A novel polymorphism in the coding region of CYBB, the human gp91-phox gene.

F Kuribayashi1, M de Boer, J H Leusen, A J Verhoeven, D Roos.   

Abstract

We have identified a rare polymorphism (G to C at nucleotide 1102) in CYBB, which codes for gp91-phox, a component of NADPH oxidase. Polymorphonuclear leukocytes with this enzyme produced normal amounts of superoxide anion.

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Year:  1996        PMID： 8655140     DOI： 10.1007/bf02281870

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  9 in total

1.  Characterization of two monoclonal antibodies against cytochrome b558 of human neutrophils.

Authors:  A J Verhoeven; B G Bolscher; L J Meerhof; R van Zwieten; J Keijer; R S Weening; D Roos
Journal:  Blood       Date:  1989-05-01       Impact factor: 22.113

Review 2.  Chronic granulomatous disease.

Authors:  A J Thrasher; N H Keep; F Wientjes; A W Segal
Journal:  Biochim Biophys Acta       Date:  1994-10-21

3.  Two cytosolic components of the human neutrophil respiratory burst oxidase translocate to the plasma membrane during cell activation.

Authors:  R A Clark; B D Volpp; K G Leidal; W M Nauseef
Journal:  J Clin Invest       Date:  1990-03       Impact factor: 14.808

4.  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.

Authors:  J H Leusen; M de Boer; B G Bolscher; P M Hilarius; R S Weening; H D Ochs; D Roos; A J Verhoeven
Journal:  J Clin Invest       Date:  1994-05       Impact factor: 14.808

5.  Chronic granulomatous disease with partial deficiency of cytochrome b558 and incomplete respiratory burst: variants of the X-linked, cytochrome b558-negative form of the disease.

Authors:  D Roos; M de Boer; N Borregard; O W Bjerrum; N H Valerius; R A Seger; T Mühlebach; B H Belohradsky; R S Weening
Journal:  J Leukoc Biol       Date:  1992-02       Impact factor: 4.962

6.  Prenatal diagnosis in a family with X-linked chronic granulomatous disease with the use of the polymerase chain reaction.

Authors:  M De Boer; B G Bolscher; R H Sijmons; H Scheffer; R S Weening; D Roos
Journal:  Prenat Diagn       Date:  1992-09       Impact factor: 3.050

7.  Absence of both cytochrome b-245 subunits from neutrophils in X-linked chronic granulomatous disease.

Authors:  A W Segal
Journal:  Nature       Date:  1987 Mar 5-11       Impact factor: 49.962

8.  Clinical features and current management of chronic granulomatous disease.

Authors:  C B Forrest; J R Forehand; R A Axtell; R L Roberts; R B Johnston
Journal:  Hematol Oncol Clin North Am       Date:  1988-06       Impact factor: 3.722

Review 9.  The genetic basis of chronic granulomatous disease.

Authors:  D Roos
Journal:  Immunol Rev       Date:  1994-04       Impact factor: 12.988
  9 in total
  6 in total

Review 1.  Hematologically important mutations: X-linked chronic granulomatous disease (third update).

Authors:  Dirk Roos; Douglas B Kuhns; Anne Maddalena; Joachim Roesler; Juan Alvaro Lopez; Tadashi Ariga; Tadej Avcin; Martin de Boer; Jacinta Bustamante; Antonio Condino-Neto; Gigliola Di Matteo; Jianxin He; Harry R Hill; Steven M Holland; Caroline Kannengiesser; M Yavuz Köker; Irina Kondratenko; Karin van Leeuwen; Harry L Malech; László Marodi; Hiroyuki Nunoi; Marie-José Stasia; Anna Maria Ventura; Carl T Witwer; Baruch Wolach; John I Gallin
Journal:  Blood Cells Mol Dis       Date:  2010-08-21       Impact factor: 3.039

2.  X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.

Authors:  J Rae; P E Newburger; M C Dinauer; D Noack; P J Hopkins; R Kuruto; J T Curnutte
Journal:  Am J Hum Genet       Date:  1998-06       Impact factor: 11.025

3.  NADPH oxidase of chondrocytes contains an isoform of the gp91phox subunit.

Authors:  P J Moulton; M B Goldring; J T Hancock
Journal:  Biochem J       Date:  1998-02-01       Impact factor: 3.857

4.  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.

Authors:  Clara Bionda; Xing Jun Li; Robin van Bruggen; Michel Eppink; Dirk Roos; Françoise Morel; Marie-José Stasia
Journal:  Hum Genet       Date:  2004-08-24       Impact factor: 4.132

5.  Chronic granulomatous disease presenting as refractory pneumonia in late adulthood.

Authors:  Ghulam Sarwar; Theo de Malmanche; Loui Rassam; Christopher Grainge; Andrew Williams; David Arnold
Journal:  Respirol Case Rep       Date:  2015-03-24

6.  Phenomic Analysis of Chronic Granulomatous Disease Reveals More Severe Integumentary Infections in X-Linked Compared With Autosomal Recessive Chronic Granulomatous Disease.

Authors:  Timothy Lok-Hin Chiu; Daniel Leung; Koon-Wing Chan; Hok Man Yeung; Chung-Yin Wong; Huawei Mao; Jianxin He; Pandiarajan Vignesh; Weiling Liang; Woei Kang Liew; Li-Ping Jiang; Tong-Xin Chen; Xiang-Yuan Chen; Yin-Bo Tao; Yong-Bin Xu; Hsin-Hui Yu; Alta Terblanche; David Christopher Lung; Cheng-Rong Li; Jing Chen; Man Tian; Brian Eley; Xingtian Yang; Jing Yang; Wen Chin Chiang; Bee Wah Lee; Deepti Suri; Amit Rawat; Anju Gupta; Surjit Singh; Wilfred Hing Sang Wong; Gilbert T Chua; Jaime Sou Da Rosa Duque; Kai-Ning Cheong; Patrick Chun-Yin Chong; Marco Hok-Kung Ho; Tsz-Leung Lee; Wanling Yang; Pamela P Lee; Yu Lung Lau
Journal:  Front Immunol       Date:  2022-01-24       Impact factor: 7.561
  6 in total

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