Associated Papers
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.
Del Pino-Molina L et al.
Frontiers in 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
35874699 (PubMed )
Supplement: Table_1.xlsx › Suppl_table_1
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
KinMutRF: a random forest classifier of sequence variants in the human protein kinase superfamily.
Pons T et al.
Bmc Genomics, 2016
27357839 (PubMed )
Supplement: 12864_2016_2723_MOESM3_ESM.xlsx › Sheet1
The energy landscape analysis of cancer mutations in protein kinases.
Dixit A et al.
Plos One, 2011
21998754 (PubMed )
Supplement: pone.0026071.s009.doc
MHC class 2 deficiency and X-linked agammaglobulinaemia in a consanguineous extended family.
Broides A et al.
International Journal of Immunogenetics, 2009
Crystal structure of Bruton's tyrosine kinase domain suggests a novel pathway for activation and provides insights into the molecular basis of X-linked agammaglobulinemia.
Mao C et al.
The Journal of Biological Chemistry, 2001
Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene.
Curtis SK et al.
American Journal of Medical Genetics, 2000
Structural basis for X-linked agammaglobulinemia (XLA): mutations at interacting Btk residues R562, W563, and A582.
Maniar HS et al.
Clinical Immunology and Immunopathology, 1995
DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia.
Vorechovský I et al.
Human Molecular Genetics, 1995
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