Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia

Nature Genetics

Volumn 27, Issue 3, 2001, Pages 313-317

  Devriendt, Koenraad ^a   Kim, Annette S ^b   Mathijs, Gert ^a   Frints, Suzanna G M ^a   Schwartz, Marianne ^c   Van Den Oord, Joost J ^a   Verhoef, Gregor E G ^d   Boogaerts, Marc A ^d   Fryns, Jean Pierre ^a   You, Daoqi ^b   Rosen, Michael K ^b   Vandenberghe, Peter ^d  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^c University of Copenhagen   (Denmark)

^d UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN; WISKOTT ALDRICH SYNDROME PROTEIN;

ADULT; ARTICLE; CONTROLLED STUDY; CROSS LINKING; CYTOSKELETON; FEMALE; GENE INACTIVATION; GENE MUTATION; GENETIC LINKAGE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; NEUTROPENIA; PHENOTYPE; PRIORITY JOURNAL; REGULATORY MECHANISM; SIGNAL TRANSDUCTION; THROMBOCYTOPENIA; WISKOTT ALDRICH SYNDROME; X CHROMOSOMAL INHERITANCE;

BASE SEQUENCE; DNA; DNA PRIMERS; FEMALE; HUMANS; LINKAGE (GENETICS); LYMPHOCYTE SUBSETS; MALE; MODELS, MOLECULAR; NEUTROPENIA; PEDIGREE; POINT MUTATION; PROTEIN CONFORMATION; PROTEINS; WISKOTT-ALDRICH SYNDROME; WISKOTT-ALDRICH SYNDROME PROTEIN; X CHROMOSOME;

VESPIDAE;

EID: 0035093787     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/85886     Document Type: Article

References (30)

1. Signaling to actin dynamics
2. The Wiskott-Aldrich syndrome protein (WASP): Roles in signaling and cytoskeletal organization
3. Direct interaction of the Wiskott-Aldrich syndrome protein with the GTPase Cdc42
4. Studies of the expression of the Wiskott-Aldrich syndrome protein
5. Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype
6. Absence of expression of the Wiskott-Aldrich syndrome protein in peripheral blood cells of Wiskott-Aldrich syndrome patients
7. WASP levels in platelets and lymphocytes of Wiskott-Aldrich syndrome patients correlate with cell dysfunction
8. Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes
9. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia
10. Expression of Wiskott-Aldrich syndrome protein (WASP) gene during hematopoietic differentiation
11. Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome
12. Induction of filopodium formation by a WASP-related actin-depolymerizing protein N-WASP
13. Autoinhibition and activation mechanisms of the Wiskott-Aldrich syndrome protein
14. Activation by Cdc42 and PIP(2) of Wiskott-Aldrich syndrome protein (WASp) stimulates actin nucleation by Arp2/3 complex
15. Mechanism of N-WASP activation by CDC42 and phosphatidylinositol 4, S-bisphosphate
16. Integration of multiple signals through cooperative regulation of the N-WASP-Arp2/3 complex
17. The Cdc42/Rac interactive binding region motif of the Wiskott Aldrich syndrome protein (WASP) is necessary but not sufficient for tight binding to Cdc42 and structure formation
18. Structure of Cdc42 in complex with the GTPase binding domain of the Wiskott-Aldrich syndrome protein
19. The interaction of Arp2/3 complex with actin: Nucleation, high affinity pointed end capping, and formation of branching networks of filaments
20. Abnormal regulation in the signal transduction in neutrophils from patients with severe congenital neutropenia: Relation of impaired mobilization of cytosolic free calcium to altered chemotaxis, superoxide anion generation and F-actin content
21. The immunological synapse and the actin cytoskeleton: Molecular hardware for T cell signaling
22. CD8+, CD57+ T cells from healthy elderly subjects suppress neutrophil development in vitro: Implications for the neutropenia of Felty's and large granular lymphocyte syndromes
23. Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy
24. Easy calculations of LOD scores and genetic risks on small computers
25. Faster sequential genetic linkage computations
26. A comprehensive genetic map of the human genome based on 5,264 microsatellites
27. Mutation spectrum in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia: Identification of twelve different mutations in the WASP gene
28. Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita
29. Activation of the Cdc42 effector N-WASP by the Shigella flexneri IcsA protein promotes actin nucleation by Arp2/3 complex and bacterial actin-based motility
30. Ribbons 2.0