ArticleProceedings of the National Academy of Sciences of the United States of America1994
Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 85 citations in OpenAlex.
- Discriminating activating, deactivating and resistance variants in protein kinases.Genome medicine · 2025Article
- Research-based flow cytometry assays for pathogenic assessment in the human B-cell biology of gene variants revealed in the diagnosis of inborn errors of immunity: a Bruton's tyrosine kinase case-study.Frontiers in immunology · 2023Article
- A mechanism for localized dynamics-driven activation in Bruton's tyrosine kinase.Royal Society open science · 2021Article
- Systematics for types and effects of RNA variations.RNA biology · 2021Article
- High Functioning Autism with Missense Mutations in Synaptotagmin-Like Protein 4 (SYTL4) and Transmembrane Protein 187 (TMEM187) Genes: SYTL4- Protein Modeling, Protein-Protein Interaction, Expression Profiling and MicroRNA Studies.International journal of molecular sciences · 2019Article
- PON-P and PON-P2 predictor performance in CAGI challenges: Lessons learned.Human mutation · 2017Article
- Substitution scanning identifies a novel, catalytically active ibrutinib-resistant BTK cysteine 481 to threonine (C481T) variant.Leukemia · 2017Article
- Article
- BTK mutations selectively regulate BTK expression and upregulate monocyte XBP1 mRNA in XLA patients.Immunity, inflammation and disease · 2015Article
- Types and effects of protein variations.Human genetics · 2015Article
- Toll-like receptor 4-, 7-, and 8-activated myeloid cells from patients with X-linked agammaglobulinemia produce enhanced inflammatory cytokines.The Journal of allergy and clinical immunology · 2012Article
- Ror2 receptor requires tyrosine kinase activity to mediate Wnt5A signaling.The Journal of biological chemistry · 2009Article
- Spectrum of disease-causing mutations in protein secondary structures.BMC structural biology · 2007Article
- XLA patients with BTK splice-site mutations produce low levels of wild-type BTK transcripts.Journal of clinical immunology · 2002Article
- The clinical spectrum of Bruton's agammaglobulinemia.Current allergy and asthma reports · 2001Review
- Kinase mutant Btk results in atypical X-linked agammaglobulinaemia phenotype.Clinical and experimental immunology · 2000Article
- KinMutBase, a database of human disease-causing protein kinase mutations.Nucleic acids research · 2000Article
- X-linked agammaglobulinemia: lack of mature B lineage cells caused by mutations in the Btk kinase.Springer seminars in immunopathology · 1998Review
- BTKbase, mutation database for X-linked agammaglobulinemia (XLA).Nucleic acids research · 1998Article
- Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemia.Molecular medicine (Cambridge, Mass.) · 1997Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 4 countries.
Funding
Abstract
X-linked agammaglobulinemia (XLA) is a hereditary defect of B-cell differentiation in man caused by deficiency of Bruton tyrosine kinase (BTK). A three-dimensional model for the BTK kinase domain, based on the core structure of cAMP-dependent protein kinase, was used to interpret the structural basis for disease in eight independent point mutations in patients with XLA. As Arg-525 of BTK has been thought to functionally substitute for a critical lysine residue in protein-serine kinases, the mutation Arg-525-->Gln was studied and found to abrogate the tyrosine kinase activity of BTK. All of the eight mutations (Lys-430-->Glu, Arg-520-->Glu, Arg-525-->Gln, Arg-562-->Pro, Ala-582-->Val, Glu-589-->Gly, Gly-594-->Glu, and Gly-613-->Asp) were located on one face of the BTK kinase domain, indicating structural clustering of functionally important residues.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.