Associated Papers
Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrum.
Breen KE et al.
Npj Precision Oncology, 2025
Genomic and clinical characterization of adult CVID patients: results from a single-centre turkish cohort.
Yilmaz Tekinhatun H et al.
Immunologic Research, 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
Disseminated Aspergillosis in X-linked Agammaglobulinemia: Beyond the norm.
Thangaraj A et al.
Journal of Clinical Immunology, 2024
E41K mutation activates Bruton's tyrosine kinase by stabilizing an inositol hexakisphosphate-dependent invisible dimer.
Chowdhury S et al.
The Journal of Biological Chemistry, 2024
The reversible fourth-generation EGFR tyrosine kinase inhibitor OBX02-011 overcomes C797S-mediated resistance in lung cancer.
Choi YJ et al.
Cancer Research, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.
Aoyagi Y et al.
Plos One, 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
ASN007 is a selective ERK1/2 inhibitor with preferential activity against RAS-and RAF-mutant tumors.
Portelinha A et al.
Cell Reports. Medicine, 2021
Novel mutations in hyper-IgM syndrome type 2 and X-linked agammaglobulinemia detected in three patients with primary immunodeficiency disease.
Chen X et al.
Molecular Genetics & Genomic Medicine, 2021
Erratum: X-linked agammaglobulinemia: investigation of clinical and laboratory findings, novel gene mutations and prevention of infective complications in long-term follow-up.
Yıldırım İ et al.
American Journal of Clinical and Experimental Immunology, 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
Impaired polysaccharide responsiveness without agammaglobulinaemia in three patients with hypomorphic mutations in Bruton Tyrosine Kinase-No detection by newborn screening for primary immunodeficiencies.
Krüger R et al.
Scandinavian Journal of Immunology, 2020
Clinical and Genetic Profile of X-Linked Agammaglobulinemia: A Multicenter Experience From India.
Rawat A et al.
Frontiers in Immunology, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
The Src module: an ancient scaffold in the evolution of cytoplasmic tyrosine kinases.
Shah NH et al.
Critical Reviews in Biochemistry and Molecular Biology, 2018
Targeted high-throughput sequencing technique for the molecular diagnosis of primary immunodeficiency disorders.
Chi ZH et al.
Medicine, 2018
Genetic screening of male patients with primary hypogammaglobulinemia can guide diagnosis and clinical management.
Vince N et al.
Human Immunology, 2018
Clinical and genetic features of the patients with X-Linked agammaglobulinemia from Turkey: Single-centre experience.
Esenboga S et al.
Scandinavian Journal of Immunology, 2018
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
Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes.
Grodecká L et al.
Clinical Immunology (orlando, Fla.), 2017
Gastrointestinal Manifestations in X-linked Agammaglobulinemia.
Barmettler S et al.
Journal of Clinical Immunology, 2017
Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015).
Chen XF et al.
Medicine, 2016
High-throughput identification of genotype-specific cancer vulnerabilities in mixtures of barcoded tumor cell lines.
Yu C et al.
Nature Biotechnology, 2016
A selective chemical probe for exploring the role of CDK8 and CDK19 in human disease.
Dale T et al.
Nature Chemical Biology, 2015
Lipid and Protein Co-Regulation of PI3K Effectors Akt and Itk in Lymphocytes.
Wang X et al.
Frontiers in Immunology, 2015
A novel direct activator of AMPK inhibits prostate cancer growth by blocking lipogenesis.
Zadra G et al.
Embo Molecular Medicine, 2014
Molecular dynamic simulation to explore the molecular basis of Btk-PH domain interaction with Ins(1,3,4,5)P4.
Lu D et al.
Thescientificworldjournal, 2013
Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects.
Nakagawa N et al.
The Journal of Allergy and Clinical Immunology, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Pneumocystis jiroveci pneumonia as an atypical presentation of X-linked agammaglobulinemia.
Kanegane H et al.
International Journal of Hematology, 2009
Clinical and molecular analysis of 49 patients with X-linked agammaglobulinemia from a single center in Argentina.
Basile N et al.
Journal of Clinical Immunology, 2009
Identification of Bruton tyrosine kinase mutations in 12 Chinese patients with X-linked agammaglobulinaemia by long PCR-direct sequencing.
Chan KW et al.
International Journal of Immunogenetics, 2006
Identification of the bruton tyrosine kinase (BTK) gene mutations in 20 Australian families with X-linked agammaglobulinemia (XLA).
Velickovic M et al.
Human Mutation, 2004
Bruton tyrosine kinase gene mutations in Argentina.
Danielian S et al.
Human Mutation, 2003
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
Expression profiling in transformed human B cells: influence of Btk mutations and comparison to B cell lymphomas using filter and oligonucleotide arrays.
Islam TC et al.
European Journal of Immunology, 2002
The clinical spectrum of Bruton's agammaglobulinemia.
Stewart DM et al.
Current Allergy and Asthma Reports, 2001
Bruton tyrosine kinase gene mutations in Turkish patients with presumed X-linked agammaglobulinemia.
Wang Y et al.
Human Mutation, 2001
X-chromosome inactivation and mutation pattern in the Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinemia. Italian XLA Collaborative Group.
Moschese V et al.
Molecular Medicine (cambridge, Mass.), 2000
MUTbase: maintenance and analysis of distributed mutation databases.
Riikonen P et al.
Bioinformatics (oxford, England), 1999
Structure of the PH domain from Bruton's tyrosine kinase in complex with inositol 1,3,4,5-tetrakisphosphate.
Baraldi E et al.
Structure (london, England : 1993), 1999
Severe B cell deficiency and disrupted splenic architecture in transgenic mice expressing the E41K mutated form of Bruton's tyrosine kinase.
Dingjan GM 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