Associated Papers
Novel deletion mutation in Bruton's tyrosine kinase results in X-linked agammaglobulinemia: A case report.
Hu XM et al.
World Journal of Clinical Cases, 2020
Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets.
Ma CS et al.
The Journal of Experimental Medicine, 2016
27401342 (PubMed )
Supplement: supp_jem.20151467_JEM_20151467_sm.pdf
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
Genome wide analysis of pathogenic SH2 domain mutations.
Lappalainen I et al.
Proteins, 2008
Unimpaired activation of c-Jun NH2-terminal kinase (JNK) 1 upon CD40 stimulation in B cells of patients with X-linked agammaglobulinemia.
Brunner C et al.
Journal of Clinical Immunology, 2002
BTK mutations in patients with X-linked agammaglobulinemia: lack of correlation between presence of peripheral B lymphocytes and specific mutations.
Tao L et al.
Human Mutation, 2000
Stability and peptide binding specificity of Btk SH2 domain: molecular basis for X-linked agammaglobulinemia.
Tzeng SR et al.
Protein Science : a Publication of the Protein Society, 2000
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
Detection of a novel mutation in the SRC homology domain 2 (SH2) of Bruton's tyrosine kinase and direct female carrier evaluation in a family with X-linked agammaglobulinemia.
Schuster V et al.
American Journal of Medical Genetics, 1996
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