Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Clinical and Molecular Characteristics of X-Linked Agammaglobulinemia Patients 55 Years or Older.
Chin AT et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2025
A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity.
Shibata H et al.
Journal of Clinical Immunology, 2024
Inactivating BTK mutations in large B-cell lymphoma in a real-world cohort: Strong correlation with BCL2 translocation.
Schejbel L et al.
Ejhaem, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
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
A mechanism for localized dynamics-driven activation in Bruton's tyrosine kinase.
Qiu S et al.
Royal Society Open Science, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Noncatalytic Bruton's tyrosine kinase activates PLCγ2 variants mediating ibrutinib resistance in human chronic lymphocytic leukemia cells.
Wist M et al.
The Journal of Biological Chemistry, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Delayed diagnosis in X-linked agammaglobulinemia and its relationship to the occurrence of mutations in BTK non-kinase domains.
Carrillo-Tapia E et al.
Expert Review of Clinical Immunology, 2018
Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015).
Chen XF et al.
Medicine, 2016
KinMutRF: a random forest classifier of sequence variants in the human protein kinase superfamily.
Pons T et al.
Bmc Genomics, 2016
Characterization of all possible single-nucleotide change caused amino acid substitutions in the kinase domain of Bruton tyrosine kinase.
Väliaho J et al.
Human Mutation, 2015
Atypical case of X-linked agammaglobulinemia diagnosed at 45 years of age.
Fujioka T et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2011
Btk is a positive regulator in the TREM-1/DAP12 signaling pathway.
Ormsby T et al.
Blood, 2011
The energy landscape analysis of cancer mutations in protein kinases.
Dixit A et al.
Plos One, 2011
Mutation of the BTK gene and clinical feature of X-linked agammaglobulinemia in mainland China.
Wang Y et al.
Journal of Clinical Immunology, 2009
[A retrospective study of one case of X-linked agammaglobulinemia].
Li DX et al.
Zhonghua Jie He He Hu Xi Za Zhi = Zhonghua Jiehe He Huxi Zazhi = Chinese Journal of Tuberculosis and Respiratory Diseases, 2006
[Gene diagnosis of X-linked agammaglobulinemia].
Wang XC et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2005
Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis.
Kanegane H et al.
The Journal of Allergy and Clinical Immunology, 2001
The clinical spectrum of Bruton's agammaglobulinemia.
Stewart DM et al.
Current Allergy and Asthma Reports, 2001
Bruton's tyrosine kinase is essential for hydrogen peroxide-induced calcium signaling.
Qin S et al.
Biochemistry, 2001
Btk/Tec kinases regulate sustained increases in intracellular Ca2+ following B-cell receptor activation.
Fluckiger AC et al.
The Embo Journal, 1998
Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course.
Holinski-Feder E et al.
Pediatrics, 1998
Transphosphorylation of Bruton's tyrosine kinase on tyrosine 551 is critical for B cell antigen receptor function.
Kurosaki T et al.
The Journal of Biological Chemistry, 1997
Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia.
Vorechovský I et al.
Human Mutation, 1997
Registries of immunodeficiency patients and mutations.
Lappalainen I et al.
Human Mutation, 1997
BTKbase, mutation database for X-linked agammaglobulinemia (XLA).
Vihinen M et al.
Nucleic Acids Research, 1996
Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families.
Zhu Q et al.
Human Molecular Genetics, 1994
X-linked agammaglobulinemia and other immunoglobulin deficiencies.
Smith CI et al.
Immunological Reviews, 1994