Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences

1992 • 1,338 citations

SPLICING OF MESSENGER RNA PRECURSORS

1986 • 1,233 citations

Isolation of a novel gene mutated in Wiskott-Aldrich syndrome

1994 • 1,053 citations

Recommendations for a nomenclature system for human gene mutations

1998 • 936 citations

Splicing of Messenger RNA Precursors

1984 • 874 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

When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.

1995 • 515 citations

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

1954 • 512 citations

PH Domains: Diverse Sequences with a Common Fold Recruit Signaling Molecules to the Cell Surface

1996 • 464 citations

The Skipping of Constitutive Exons in Vivo Induced by Nonsense Mutations

1993 • 440 citations

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

1996 • 397 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

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

1997 • 252 citations

Chemotaxis of macrophages is abolished in the Wiskott‐Aldrich syndrome

1998 • 241 citations

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

1996 • 229 citations

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

1995 • 211 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

Monocytes from Wiskott-Aldrich patients display reduced chemotaxis and lack of cell polarization in response to monocyte chemoattractant protein-1 and formyl-methionyl-leucyl-phenylalanine.

1998 • 144 citations

Direct Binding of the Verprolin-Homology Domain in N-WASP to Actin Is Essential for Cytoskeletal Reorganization

1998 • 141 citations

Tyrosine Phosphorylation Regulates the SH3-mediated Binding of the Wiskott-Aldrich Syndrome Protein to PSTPIP, a Cytoskeletal-associated Protein

1998 • 137 citations

Monocytes from Wiskott-Aldrich Patients Display Reduced Chemotaxis and Lack of Cell Polarization in Response to Monocyte Chemoattractant Protein-1 and Formyl-Methionyl-Leucyl-Phenylalanine

1998 • 134 citations

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

1996 • 131 citations

Defects in Wiskott-Aldrich syndrome blood cells

1996 • 122 citations

Wiskott-Aldrich syndrome protein is associated with the adapter protein Grb2 and the epidermal growth factor receptor in living cells.

1997 • 120 citations

Tyrosine phosphorylation of the Wiskott‐Aldrich Syndrome protein by Lyn and Btk is regulated by CDC42

1998 • 111 citations

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

1996 • 109 citations

X-Linked Wiskott–Aldrich Syndrome in a Girl

1998 • 108 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

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

Collagen Induces Tyrosine Phosphorylation of Wiskott-Aldrich Syndrome Protein in Human Platelets

1998 • 84 citations

Wiskott-Aldrich Syndrome

1963 • 81 citations

Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome

1998 • 57 citations

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

1997 • 52 citations

Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome

1996 • 51 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

A Case of Wiskott-Aldrich Syndrome With Dual Mutations in Exon 10 of the WASP Gene: An Additional De Novo One-Base Insertion, Which Restores Frame Shift Due to an Inherent One-Base Deletion, Detected in the Major Population of the Patient's Peripheral Blood Lymphocytes

1998 • 41 citations

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

1996 • 38 citations

Absence of Expression of the Wiskott–Aldrich Syndrome Protein in Peripheral Blood Cells of Wiskott–Aldrich Syndrome Patients

1998 • 34 citations

Mutation Spectrum in Patients with Wiskott-Aldrich Syndrome and X-linked Thrombocytopenia: Identification of Twelve Different Mutations in the WASP Gene

1996 • 30 citations

Mutation Analysis of Five Japanese Families with Wiskott-Aldrich Syndrome and Determination of the Family Members' Carrier Status Using Three Different Methods

1997 • 20 citations

Wiskott–Aldrich syndrome: a gene, a multifunctional protein and the beginnings of an explanation

1998 • 19 citations

Detection of a novel splice-site mutation that results in skipping exon 3 of the WASP gene in a patient with Wiskott-Aldrich syndrome

1996 • 7 citations