Literature DB >> 3334897

Gene deletion in a patient with chronic granulomatous disease and McLeod syndrome: fine mapping of the Xk gene locus.

D Frey1, M Mächler, R Seger, W Schmid, S H Orkin.   

Abstract

In a patient suffering from X-linked chronic granulomatous disease (X-CGD)--a disorder of phagocytesuperoxide generation--and McLeod syndrome, characterized by the absence of the red cell Kell antigen, we identified a deletion of the entire X-CGD gene by means of DNA hybridization with a cDNA probe. Our findings suggest that the X-CGD and McLeod loci are physically close in the p21 region of the X chromosome proximal to the Duchenne muscular dystrophy locus.

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Year:  1988        PMID: 3334897

Source DB:  PubMed          Journal:  Blood        ISSN: 0006-4971            Impact factor:   22.113


  12 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

Review 3.  Subcellular localization and dynamics of components of the respiratory burst oxidase.

Authors:  N Borregaard
Journal:  J Bioenerg Biomembr       Date:  1988-12       Impact factor: 2.945

4.  Residual NADPH oxidase and survival in chronic granulomatous disease.

Authors:  Douglas B Kuhns; W Gregory Alvord; Theo Heller; Jordan J Feld; Kristen M Pike; Beatriz E Marciano; Gulbu Uzel; Suk See DeRavin; Debra A Long Priel; Benjamin P Soule; Kol A Zarember; Harry L Malech; Steven M Holland; John I Gallin
Journal:  N Engl J Med       Date:  2010-12-30       Impact factor: 91.245

5.  Spontaneously arising red cells with a McLeod-like phenotype in normal donors.

Authors:  David J Araten; Katie J Sanders; Jeffrey Pu; Soohee Lee
Journal:  Mutat Res       Date:  2009-04-02       Impact factor: 2.433

6.  Mutations in the promoter region of the gene for gp91-phox in X-linked chronic granulomatous disease with decreased expression of cytochrome b558.

Authors:  P E Newburger; D G Skalnik; P J Hopkins; E A Eklund; J T Curnutte
Journal:  J Clin Invest       Date:  1994-09       Impact factor: 14.808

7.  Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease.

Authors:  M C Dinauer; E A Pierce; R W Erickson; T J Muhlebach; H Messner; S H Orkin; R A Seger; J T Curnutte
Journal:  Proc Natl Acad Sci U S A       Date:  1991-12-15       Impact factor: 11.205

8.  Fine mapping of the McLeod locus (XK) to a 150-380-kb region in Xp21.

Authors:  M F Ho; A P Monaco; L A Blonden; G J van Ommen; N A Affara; M A Ferguson-Smith; H Lehrach
Journal:  Am J Hum Genet       Date:  1992-02       Impact factor: 11.025

9.  Clonal growth of functionally normal and deficient neutrophils from the bone marrow of a patient with variant chronic granulomatous disease. Lack of reconstitution of oxidative burst defect by G-CSF, GM-CSF, and IFN-gamma in vitro.

Authors:  S Oez; J Birkmann; J R Kalden
Journal:  Ann Hematol       Date:  1993-01       Impact factor: 3.673

10.  Chronic granulomatous disease: a review of the infectious and inflammatory complications.

Authors:  Eunkyung Song; Gayatri Bala Jaishankar; Hana Saleh; Warit Jithpratuck; Ryan Sahni; Guha Krishnaswamy
Journal:  Clin Mol Allergy       Date:  2011-05-31
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