Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease-Reference-Cited by-同舟云学术

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Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease

Published:2003-04-14 Issue:1 Volume:34 Page:70-74
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Hernandez Paolo A.,Gorlin Robert J.,Lukens John N.,Taniuchi Shoichiro,Bohinjec Jože,Francois Fleur,Klotman Mary E.,Diaz George A.

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng1149.pdf

Reference30 articles.

1. Wetzler, M. et al. A new familial immunodeficiency disorder characterized by severe neutropenia, a defective marrow release mechanism, and hypogammaglobulinemia. Am. J. Med. 89, 663–672 (1990).

2. Zuelzer, W.W. “Myelokathexis”—a new form of chronic granulocytopenia. Report of a Case. N. Engl. J. Med. 270, 699–704 (1964).

3. Mentzer, W.C. Jr., Johnston, R.B. Jr., Baehner, R.L. & Nathan, D.G. An unusual form of chronic neutropenia in a father and daughter with hypogammaglobulinaemia. Br. J. Haematol. 36, 313–322 (1977).

4. O'Regan, S., Newman, A.J. & Graham, R.C. 'Myelokathexis'. Neutropenia with marrow hyperplasia. Am. J. Dis. Child. 131, 655–658 (1977).

5. Dong, F. et al. Identification of a nonsense mutation in the granulocyte-colony-stimulating factor receptor in severe congenital neutropenia. Proc. Natl. Acad. Sci. USA 91, 4480–4484 (1994).

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1. Disulfide bond replacement with non-reducible side chain to tail macrolactamization for the development of potent and selective CXCR4 peptide antagonists endowed with flanking binding sites;European Journal of Medicinal Chemistry;2024-10

2. Increased Susceptibility of WHIM Mice to Papillomavirus-induced Disease is Dependent upon Immune Cell Dysfunction;PLOS Pathogens;2024-09-03

3. Development and therapeutic perspectives of CXCR4 antagonists for disease therapy;European Journal of Medicinal Chemistry;2024-09

4. Cryo-EM structure of monomeric CXCL12-bound CXCR4 in the active state;Cell Reports;2024-08

5. A novel transmembrane CXCR4 variant that expands the WHIM genotype-phenotype paradigm;Blood Advances;2024-07-12

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