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
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
Circulating tumor DNA for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.
Bruscaggin A et al.
Blood Advances, 2021
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
Crohn's-like Enteritis in X-Linked Agammaglobulinemia: A Case Series and Systematic Review.
Khan F et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2021
KinaseMD: kinase mutations and drug response database.
Hu R et al.
Nucleic Acids Research, 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
Clinical characteristics and prenatal diagnosis for 22 families in Henan Province of China with X-linked agammaglobulinemia (XLA) related to Bruton's tyrosine kinase (BTK) gene mutations.
Gao S et al.
Bmc Medical Genetics, 2020
Accelerated Immunodeficiency-associated Vaccine-derived Poliovirus Serotype 3 Sequence Evolution Rate in an 11-week-old Boy With X-linked Agammaglobulinemia and Perinatal Human Immunodeficiency Virus Exposure.
Jallow S et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America, 2020
Kappa-deleting recombination excision circle levels remain low or undetectable throughout life in patients with X-linked agammaglobulinemia.
King J et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2018
[Clinical features and gene mutations of primary immunodeficiency disease: an analysis of 7 cases].
Wang JC et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 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
Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015).
Chen XF et al.
Medicine, 2016
Clinical application of whole-exome sequencing across clinical indications.
Retterer K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
KinMutRF: a random forest classifier of sequence variants in the human protein kinase superfamily.
Pons T et al.
Bmc Genomics, 2016
Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.
Liu Y et al.
Plos One, 2015
Bruton tyrosine kinase mediates TLR9-dependent human dendritic cell activation.
Lougaris V et al.
The Journal of Allergy and Clinical Immunology, 2014
The energy landscape analysis of cancer mutations in protein kinases.
Dixit A et al.
Plos One, 2011
Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia.
Lee PP et al.
Journal of Clinical Immunology, 2010
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
Multiple colorectal neoplasms in X-linked agammaglobulinemia.
Brosens LA et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2008
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
Four novel and three recurrent mutations of the BTK gene and pathogenic effects of putative splice mutations.
Wattanasirichaigoon D et al.
Journal of Human Genetics, 2006
Bruton tyrosine kinase gene mutations in Argentina.
Danielian S et al.
Human Mutation, 2003
Composition of precursor B-cell compartment in bone marrow from patients with X-linked agammaglobulinemia compared with healthy children.
Noordzij JG et al.
Pediatric Research, 2002
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
Early and prolonged intravenous immunoglobulin replacement therapy in childhood agammaglobulinemia: a retrospective survey of 31 patients.
Quartier P et al.
The Journal of Pediatrics, 1999
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
Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia.
Vorechovský I et al.
Human Mutation, 1997
DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia.
Vorechovský I et al.
Human Molecular Genetics, 1995
Clinical and genetic profiles of patients with X-linked agammaglobulinemia from southeast Turkey: Novel mutations in BTK gene.
Doğruel D et al.
Allergologia Et Immunopathologia, 0