Wiskott-Aldrich Syndrome/X-Linked Thrombocytopenia: WASP Gene Mutations, Protein Expression, and Phenotype

Isolation of a novel gene mutated in Wiskott-Aldrich syndrome

1994 • 1,053 citations

Structural basis for the binding of proline-rich peptides to SH3 domains

1994 • 1,016 citations

Wiskott–Aldrich Syndrome Protein, a Novel Effector for the GTPase CDC42Hs, Is Implicated in Actin Polymerization

1996 • 873 citations

N-WASP, a novel actin-depolymerizing protein, regulates the cortical cytoskeletal rearrangement in a PIP2-dependent manner downstream of tyrosine kinases.

1996 • 667 citations

A multiinstitutional survey of the Wiskott-Aldrich syndrome

1994 • 612 citations

PEDIGREE DEMONSTRATING A SEX-LINKED RECESSIVE CONDITION CHARACTERIZED BY DRAINING EARS, ECZEMATOID DERMATITIS AND BLOODY DIARRHEA

1954 • 512 citations

Wiskott-Aldrich syndrome

1968 • 422 citations

Two GTPases, Cdc42 and Rac, bind directly to a protein implicated in the immunodeficiency disorder Wiskott–Aldrich syndrome

1996 • 397 citations

Regulation of the polarization of T cells toward antigen-presenting cells by Ras-related GTPase CDC42.

1995 • 386 citations

The Wiskott-Aldrich syndrome: studies of lymphocytes, granulocytes, and platelets

1980 • 327 citations

Wiskott-Aldrich Syndrome Protein Physically Associates with Nck through Src Homology 3 Domains

1995 • 315 citations

X–linked thrombocytopenia and Wiskott–Aldrich syndrome are allelic diseases with mutations in the WASP gene

1995 • 284 citations

The specific direct interaction of helper T cells and antigen-presenting B cells.

1986 • 246 citations

Direct interaction of the Wiskott-Aldrich syndrome protein with the GTPase Cdc42.

1996 • 229 citations

Dideoxy fingerprinting (ddF): A rapid and efficient screen for the presence of mutations

1992 • 212 citations

The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene

1995 • 211 citations

T cells of patients with the Wiskott-Aldrich syndrome have a restricted defect in proliferative responses.

1993 • 197 citations

Identification of Itk/Tsk Src Homology 3 Domain Ligands

1996 • 193 citations

B cell activation via CD40 is required for specific antibody production by antigen-stimulated human B cells.

1993 • 158 citations

Wiskott–Aldrich syndrome protein (WASp) is a binding partner for c-Src family protein-tyrosine kinases

1996 • 154 citations

WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia

1995 • 151 citations

Studies of the expression of the Wiskott-Aldrich syndrome protein.

1996 • 131 citations

Actin polymerization and pseudopod reorganization accompany anti-CD3-induced growth arrest in Jurkat T cells.

1993 • 112 citations

Evidence that the Wiskott-Aldrich syndrome protein may be involved in lymphoid cell signaling pathways.

1996 • 109 citations

Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus

1995 • 105 citations

Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene.

1995 • 104 citations

WASPbase: a database of WAS- and XLT-causing mutations

1996 • 89 citations

Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product

1996 • 88 citations

Deletion within the Src homology domain 3 of Bruton's tyrosine kinase resulting in X-linked agammaglobulinemia (XLA).

1994 • 87 citations

Sex-Linked Hereditary Thrombocytopenia as a Variant of Wiskott–Aldrich Syndrome

1967 • 77 citations

High prevalence of nonsense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome

1995 • 72 citations

Identification of Regions of the Wiskott-Aldrich Syndrome Protein Responsible for Association with Selected Src Homology 3 Domains

1996 • 71 citations

Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome

1988 • 60 citations

Localization of the gene for the Wiskott-Aldrich syndrome between two flanking markers, TIMP and DXS255, on Xp11.22–Xp11.3

1991 • 60 citations

Variable expression of WASP in B cell lines of Wiskott-Aldrich syndrome patients.

1997 • 52 citations

Scanning of the Wiskott-Aldrich syndrome (WAS) gene: identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype

1995 • 47 citations

Epstein-Barr virus-induced lymphoblastoid cell lines derived from the peripheral blood of patients with X-linked agammaglobulinemia can secrete IgM

1984 • 40 citations

Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene

1996 • 38 citations

X-Linked Thrombocytopenia and Thrombocytopathia: Attenuated Wiskott-Aldrich Syndrome

1991 • 25 citations

X-Linked Thrombocytopenic Purpura

1972 • 19 citations

Analysis of X-chromosome inactivation in X-linked immunodeficiency with hyper-IgM (HIGM1): evidence for involvement of different hematopoietic cell lineages

1991 • 18 citations

A diagnostic assay for the Wiskott-Aldrich syndrome and its variant forms.

1995 • 18 citations

Wiskott-Aldrich syndrome in a family with Fanconi anemia

1996 • 9 citations