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Literature DB >> 11162142

Hematologically important mutations: X-linked chronic granulomatous disease (second update).

P G Heyworth¹, J T Curnutte, J Rae, D Noack, D Roos, E van Koppen, A R Cross.

Abstract

Entities: Disease Mutation

Mesh：

Substances：

Year: 2001 PMID： 11162142 DOI： 10.1006/bcmd.2000.0347

Source DB: PubMed Journal: Blood Cells Mol Dis ISSN： 1079-9796 Impact factor: 3.039

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22 in total

1. Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.

Authors: Jacinta Bustamante; Andres A Arias; Guillaume Vogt; Capucine Picard; Lizbeth Blancas Galicia; Carolina Prando; Audrey V Grant; Christophe C Marchal; Marjorie Hubeau; Ariane Chapgier; Ludovic de Beaucoudrey; Anne Puel; Jacqueline Feinberg; Ethan Valinetz; Lucile Jannière; Céline Besse; Anne Boland; Jean-Marie Brisseau; Stéphane Blanche; Olivier Lortholary; Claire Fieschi; Jean-François Emile; Stéphanie Boisson-Dupuis; Saleh Al-Muhsen; Bruce Woda; Peter E Newburger; Antonio Condino-Neto; Mary C Dinauer; Laurent Abel; Jean-Laurent Casanova
Journal: Nat Immunol Date: 2011-01-30 Impact factor: 25.606

2. Towards routine screening of rare genetic diseases: the example of chronic granulomatous disease.

Authors: Marie José Stasia
Journal: J Mol Diagn Date: 2010-03-19 Impact factor: 5.568

Review 3. 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

4. Monocyte/macrophage-specific NADPH oxidase contributes to antimicrobial host defense in X-CGD.

Authors: Yuka Okura; Masafumi Yamada; Futoshi Kuribayashi; Ichiro Kobayashi; Tadashi Ariga
Journal: J Clin Immunol Date: 2015-02-10 Impact factor: 8.317

5. Dobzhansky-Muller incompatibilities in protein evolution.

Authors: Alexey S Kondrashov; Shamil Sunyaev; Fyodor A Kondrashov
Journal: Proc Natl Acad Sci U S A Date: 2002-10-28 Impact factor: 11.205

6. 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

7. Rapid genetic analysis of x-linked chronic granulomatous disease by high-resolution melting.

Authors: Harry R Hill; Nancy H Augustine; Robert J Pryor; Gudrun H Reed; Joshua D Bagnato; Anne E Tebo; Jeffrey M Bender; Brian M Pasi; Javier Chinen; I Celine Hanson; Martin de Boer; Dirk Roos; Carl T Wittwer
Journal: J Mol Diagn Date: 2010-03-12 Impact factor: 5.568