Related references
Note: Only part of the references are listed.Systematic errors in annotations of truncations, loss-of-function and synonymous variants
Mauno Vihinen
FRONTIERS IN GENETICS (2023)
Pirtobrutinib targets BTK C481S in ibrutinib-resistant CLL but second-site BTK mutations lead to resistance
Aishath Naeem et al.
BLOOD ADVANCES (2023)
Nonsynonymous Synonymous Variants Demand for a Paradigm Shift in Genetics
Mauno Vihinen
CURRENT GENOMICS (2023)
A structural biology community assessment of AlphaFold2 applications
Mehmet Akdel et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2022)
PON-All: Amino Acid Substitution Tolerance Predictor for All Organisms
Yang Yang et al.
FRONTIERS IN MOLECULAR BIOSCIENCES (2022)
When a Synonymous Variant Is Nonsynonymous
Mauno Vihinen
GENES (2022)
BTK gatekeeper residue variation combined with cysteine 481 substitution causes super-resistance to irreversible inhibitors acalabrutinib, ibrutinib and zanubrutinib
H. Yesid Estupinan et al.
LEUKEMIA (2021)
The LOVD3 platform: efficient genome-wide sharing of genetic variants
Ivo F. A. C. Fokkema et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2021)
Highly accurate protein structure prediction for the human proteome
Kathryn Tunyasuvunakool et al.
NATURE (2021)
Targeting Bruton's Tyrosine Kinase in CLL
Inhye E. Ahn et al.
FRONTIERS IN IMMUNOLOGY (2021)
Resistance Mutations to BTK Inhibitors Originate From the NF-κB but Not From the PI3K-RAS-MAPK Arm of the B Cell Receptor Signaling Pathway
C. I. Edvard Smith et al.
FRONTIERS IN IMMUNOLOGY (2021)
Quality and quantity control of gene expression by nonsense-mediated mRNA decay
Tatsuaki Kurosaki et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2019)
Checklist for gene/disease-specific variation database curators to enable ethical data management
Rosemary Ekong et al.
HUMAN MUTATION (2019)
VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions
Peter J. Freeman et al.
HUMAN MUTATION (2018)
How to Define Pathogenicity, Health, and Disease?
Mauno Vihinen
HUMAN MUTATION (2017)
Substitution scanning identifies a novel, catalytically active ibrutinib-resistant BTK cysteine 481 to threonine (C481T) variant
A. Hamasy et al.
LEUKEMIA (2017)
Predicting Severity of Disease-Causing Variants
Abhishek Niroula et al.
HUMAN MUTATION (2017)
Ability of Bruton's Tyrosine Kinase Inhibitors to Sequester Y551 and Prevent Phosphorylation Determines Potency for Inhibition of Fc Receptor but not B-Cell Receptor Signaling
Andrew T. Bender et al.
MOLECULAR PHARMACOLOGY (2017)
Clinical and mutational features of X-linked agammaglobulinemia in Mexico
E. Garcia-Garcia et al.
CLINICAL IMMUNOLOGY (2016)
VariOtator, a Software Tool for Variation Annotation with the Variation Ontology
Gerard C. P. Schaafsma et al.
HUMAN MUTATION (2016)
Human Variome Project Quality Assessment Criteria for Variation Databases
Mauno Vihinen et al.
HUMAN MUTATION (2016)
Characterization of All Possible Single-Nucleotide Change Caused Amino Acid Substitutions in the Kinase Domain of Bruton Tyrosine Kinase
Jouni Valiaho et al.
HUMAN MUTATION (2015)
Muddled genetic terms miss and mess the message
Mauno Vihinen
TRENDS IN GENETICS (2015)
PON-P2: Prediction Method for Fast and Reliable Identification of Harmful Variants
Abhishek Niroula et al.
PLOS ONE (2015)
Variation Ontology for annotation of variation effects and mechanisms
Mauno Vihinen
GENOME RESEARCH (2014)
Resistance Mechanisms for the Bruton's Tyrosine Kinase Inhibitor Ibrutinib
Jennifer A. Woyach et al.
NEW ENGLAND JOURNAL OF MEDICINE (2014)
Ibrutinib Resistance in Chronic Lymphocytic Leukemia
Richard R. Furman et al.
NEW ENGLAND JOURNAL OF MEDICINE (2014)
Variation ontology: annotator guide
Mauno Vihinen
JOURNAL OF BIOMEDICAL SEMANTICS (2014)
Agammaglobulinemia: causative mutations and their implications for novel therapies
Anna Berglof et al.
EXPERT REVIEW OF CLINICAL IMMUNOLOGY (2013)
Bruton Tyrosine Kinase Inhibitor Ibrutinib (PCI-32765) Has Significant Activity in Patients With Relapsed/Refractory B-Cell Malignancies
Ranjana H. Advani et al.
JOURNAL OF CLINICAL ONCOLOGY (2013)
Dual Phosphorylation of Btk by Akt/Protein Kinase B Provides Docking for 14-3-3ζ, Regulates Shuttling, and Attenuates both Tonic and Induced Signaling in B Cells
Dara K. Mohammad et al.
MOLECULAR AND CELLULAR BIOLOGY (2013)
(DP2)-P-2: database of disordered protein predictions
Matt E. Oates et al.
NUCLEIC ACIDS RESEARCH (2013)
Guidelines for Establishing Locus Specific Databases
Mauno Vihinen et al.
HUMAN MUTATION (2012)
Curating Gene Variant Databases (LSDBs): Toward a Universal Standard
Jacopo Celli et al.
HUMAN MUTATION (2012)
PON-P: Integrated Predictor for Pathogenicity of Missense Variants
Ayodeji Olatubosun et al.
HUMAN MUTATION (2012)
Clinical Characteristics and Genotype-phenotype Correlation in 62 Patients with X-linked Agammaglobulinemia
Pamela P. W. Lee et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2010)
The Bruton tyrosine kinase inhibitor PCI-32765 blocks B-cell activation and is efficacious in models of autoimmune disease and B-cell malignancy
Lee A. Honigberg et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Locus Reference Genomic sequences: an improved basis for describing human DNA variants
Raymond Dalgleish et al.
GENOME MEDICINE (2010)
Bruton's tyrosine kinase (Btk): function, regulation, and transformation with special emphasis on the PH domain
Abdalla J. Mohamed et al.
IMMUNOLOGICAL REVIEWS (2009)
Genome wide analysis of pathogenic SH2 domain mutations
Ilkka Lappalainen et al.
PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS (2008)
Improving sequence variant descriptions in mutation Databases and literature using the mutalyzer sequence variation nomenclature checker
Martin Wildeman et al.
HUMAN MUTATION (2008)
BDTKbase:: The mutation database for X-linked agammaglobullinemia
Jouni Valiaho et al.
HUMAN MUTATION (2006)
Immunodeficiency mutation databases (IDbases)
Hilkka Piirila et al.
HUMAN MUTATION (2006)
Solution structure and phosphopeptide binding of the SH2 domain from the human Bruton's tyrosine kinase
Kuo-Chun Huang et al.
JOURNAL OF BIOMOLECULAR NMR (2006)
Genotype/phenotype correlations in X-linked agammaglobulinemia
A Broides et al.
CLINICAL IMMUNOLOGY (2006)
KinMutBase:: A registry of disease-causing mutations in protein kinase domains
C Ortutay et al.
HUMAN MUTATION (2005)
Bruton's tyrosine kinase:: cell biology, sequence conservation, mutation spectrum, siRNA modifications, and expression profiling
JM Lindvall et al.
IMMUNOLOGICAL REVIEWS (2005)
UCSF chimera - A visualization system for exploratory research and analysis
EF Pettersen et al.
JOURNAL OF COMPUTATIONAL CHEMISTRY (2004)
Interaction between Btk TH and SH3 domain
MP Okoh et al.
BIOPOLYMERS (2002)
Intermolecular interactions between the SH3 domain and the proline-rich TH region of Bruton's tyrosine kinase
H Hansson et al.
FEBS LETTERS (2001)