Associated Papers
Wiskott-Aldrich syndrome protein maintains regulatory T cell tolerance by modulating their surface IL-2 receptor levels.
Zhao Q et al.
Journal of Autoimmunity, 2024
Wiskott-Aldrich syndrome protein expression in female WAS carriers: A flow cytometry study from North India.
Basu S et al.
Pediatric Blood & Cancer, 2024
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.
Davidson AL et al.
Genome Medicine, 2023
Long-term safety and efficacy of lentiviral hematopoietic stem/progenitor cell gene therapy for Wiskott-Aldrich syndrome.
Magnani A et al.
Nature Medicine, 2022
Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.
Grossi A et al.
Genes, 2021
Autoimmunity in Wiskott-Aldrich Syndrome: Updated Perspectives.
Sudhakar M et al.
The Application of Clinical Genetics, 2021
Whole-exome Sequencing for the Identification of Rare Variants in Primary Immunodeficiency Genes in Children With Sepsis: A Prospective, Population-based Cohort Study.
Borghesi A et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America, 2020
Wiskott Aldrich syndrome protein regulates non-selective autophagy and mitochondrial homeostasis in human myeloid cells.
Rivers E et al.
Elife, 2020
The Polygenic and Monogenic Basis of Blood Traits and Diseases.
Vuckovic D et al.
Cell, 2020
Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease.
Serra EG et al.
Nature Communications, 2020
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
Omoyinmi E et al.
Plos One, 2017
Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.
Ostrowski J et al.
Scientific Reports, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
The structure of FMNL2-Cdc42 yields insights into the mechanism of lamellipodia and filopodia formation.
Kühn S et al.
Nature Communications, 2015
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
Integrative annotation of variants from 1092 humans: application to cancer genomics.
Khurana E et al.
Science (new York, N.y.), 2013
Ubiquitylation-dependent negative regulation of WASp is essential for actin cytoskeleton dynamics.
Reicher B et al.
Molecular and Cellular Biology, 2012
Three-dimensional reconstruction of protein networks provides insight into human genetic disease.
Wang X et al.
Nature Biotechnology, 2012
Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae.
Rajmohan R et al.
Fems Yeast Research, 2009
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.
Jin Y et al.
Blood, 2004
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
WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
Derry JM et al.
Human Molecular Genetics, 1995