Associated Papers
Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.
Gagoski D et al.
Protein Science : a Publication of the Protein Society, 2025
Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.
Gagoski D et al.
Biorxiv : the Preprint Server for Biology, 2025
Understanding immunoactinopathies: A decade of research on WAS gene defects.
Vieira RC et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2023
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan KW et al.
Frontiers in Immunology, 2022
When WAS Gene Diagnosis Is Needed: Seeking Clues Through Comparison Between Patients With Wiskott-Aldrich Syndrome and Idiopathic Thrombocytopenic Purpura.
Jin YY et al.
Frontiers in Immunology, 2019
X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options.
Albert MH et al.
Blood, 2010
Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia.
Andreu N et al.
International Journal of Molecular Medicine, 2007
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.
Jin Y et al.
Blood, 2004
Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome.
Fillat C et al.
American Journal of Medical Genetics, 2001
Structural basis of Wiskott-Aldrich syndrome causing mutations in the WH1 domain.
Rong SB et al.
Journal of Molecular Medicine (berlin, Germany), 2000
Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.
Schindelhauer D et al.
Human Genetics, 1996
Mutation spectrum in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia: identification of twelve different mutations in the WASP gene.
Schwartz M et al.
Thrombosis and Haemostasis, 1996
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.
Kwan SP et al.
Human Molecular Genetics, 1995
WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
Derry JM et al.
Human Molecular Genetics, 1995