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- 2024
-
Mark
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
(
- Contribution to journal › Article
- 2023
-
Mark
VariBench, new variation benchmark categories and data sets
(
- Contribution to journal › Article
-
Mark
BTKbase, Bruton Tyrosine Kinase Variant Database in X-Linked Agammaglobulinemia : Looking Back and Ahead
(
- Contribution to journal › Article
-
Mark
PON-Fold : Prediction of Substitutions Affecting Protein Folding Rate
(
- Contribution to journal › Article
-
Mark
Nonsynonymous Synonymous Variants Demand for a Paradigm Shift in Genetics
(
- Contribution to journal › Scientific review
-
Mark
Systematic errors in annotations of truncations, loss-of-function and synonymous variants
(
- Contribution to journal › Article
-
Mark
Pirtobrutinib targets BTK C481S in ibrutinib-resistant CLL but second-site BTK mutations lead to resistance
(
- Contribution to journal › Article
-
Mark
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
2023) In European Journal of Human Genetics(
- Contribution to journal › Article
- 2022
-
Mark
Individual Genetic Heterogeneity
(
- Contribution to journal › Scientific review
-
Mark
Parkinson's disease and multiple system atrophy patient iPSC-derived oligodendrocytes exhibit alpha-synuclein-induced changes in maturation and immune reactive properties
(
- Contribution to journal › Article
-
Mark
When a Synonymous Variant Is Nonsynonymous
(
- Contribution to journal › Article
-
Mark
Generic model for biological regulation
(
- Contribution to journal › Article
-
Mark
PON-All : Amino Acid Substitution Tolerance Predictor for All Organisms
(
- Contribution to journal › Article
-
Mark
ProTstab2 for Prediction of Protein Thermal Stabilities
(
- Contribution to journal › Article
-
Mark
Circulating plasma microRNAs in systemic sclerosis-associated pulmonary arterial hypertension
(
- Contribution to journal › Article
- 2021
-
Mark
Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology
(
- Contribution to journal › Article
-
Mark
BTK gatekeeper residue variation combined with cysteine 481 substitution causes super-resistance to irreversible inhibitors acalabrutinib, ibrutinib and zanubrutinib
(
- Contribution to journal › Article
-
Mark
Structure-Function Relationships of Covalent and Non-Covalent BTK Inhibitors
(
- Contribution to journal › Scientific review
-
Mark
Systematics for types and effects of RNA variations
(
- Contribution to journal › Article
-
Mark
Functional effects of protein variants
(
- Contribution to journal › Article
-
Mark
PON-Sol2 : Prediction of effects of variants on protein solubility
(
- Contribution to journal › Article
-
Mark
Measuring and interpreting pervasive heterogeneity, poikilosis
(
- Contribution to journal › Article
-
Mark
TNF-α and α-synuclein fibrils differently regulate human astrocyte immune reactivity and impair mitochondrial respiration
(
- Contribution to journal › Article
-
Mark
Hematologically important mutations : The autosomal forms of chronic granulomatous disease (third update)
(
- Contribution to journal › Article
- 2020
-
Mark
Variation benchmark datasets : update, criteria, quality and applications
(
- Contribution to journal › Article
-
Mark
Identify New Genetic Variants on Chromosome 6 Associated with Mortality after Heart Transplantation
2020) In The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation 39(4). p.473-473(
- Contribution to journal › Published meeting abstract
-
Mark
Poikilosis - Pervasive biological variation
(
- Contribution to journal › Article
-
Mark
Strategy for Disease Diagnosis, Progression Prediction, Risk Group Stratification and Treatment—Case of COVID-19
(
- Contribution to journal › Article
-
Mark
Problems in variation interpretation guidelines and in their implementation in computational tools
(
- Contribution to journal › Article
-
Mark
Guidelines for systematic reporting of sequence alignments
(
- Contribution to journal › Article
- 2019
-
Mark
How good are pathogenicity predictors in detecting benign variants?
(
- Contribution to journal › Article
-
Mark
Benchmarking subcellular localization and variant tolerance predictors on membrane proteins
(
- Contribution to journal › Article
-
Mark
ProTstab - Predictor for cellular protein stability
(
- Contribution to journal › Article
-
Mark
Checklist for gene/disease-specific variation database curators to enable ethical data management
(
- Contribution to journal › Article
-
Mark
FGF family members differentially regulate maturation and proliferation of stem cell-derived astrocytes
(
- Contribution to journal › Article
- 2018
-
Mark
Pon-tstab : Protein variant stability predictor. importance of training data quality
(
- Contribution to journal › Article
-
Mark
Mu transpososome activity-profiling yields hyperactive MuA variants for highly efficient genetic and genome engineering
(
- Contribution to journal › Article
-
Mark
Systematics for types and effects of DNA variations
(
- Contribution to journal › Scientific review
-
Mark
Pan-cancer analysis of neoepitopes
(
- Contribution to journal › Article
-
Mark
Representativeness of variation benchmark datasets
(
- Contribution to journal › Article
-
Mark
NDDVD : an integrated and manually curated Neurodegenerative Diseases Variation Database
(
- Contribution to journal › Article
-
Mark
Simulation of the dynamics of primary immunodeficiencies in B cells
(
- Contribution to journal › Article
- 2017
-
Mark
How to Define Pathogenicity, Health, and Disease?
(
- Contribution to journal › Article
-
Mark
One Gene, Several Diseases : The Characteristics of Pleiotropic Proteins
(
- Contribution to journal › Debate/Note/Editorial
-
Mark
Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI
(
- Contribution to journal › Article
-
Mark
PON-SC - program for identifying steric clashes caused by amino acid substitutions
(
- Contribution to journal › Article
-
Mark
Working toward precision medicine : Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges
(
- Contribution to journal › Article
-
Mark
Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseases
(
- Contribution to journal › Article
-
Mark
Simulation of the dynamics of primary immunodeficiencies in CD4+ T-cells
(
- Contribution to journal › Article
-
Mark
PON-P and PON-P2 predictor performance in CAGI challenges : Lessons learned
(
- Contribution to journal › Article
-
Mark
Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies
(
- Contribution to journal › Article
- 2016
-
Mark
VariOtator, A Software Tool for Variation Annotation with the Variation Ontology.
(
- Contribution to journal › Article
-
Mark
PON-mt-tRNA: a multifactorial probability-based method for classification of mitochondrial tRNA variations.
(
- Contribution to journal › Article
-
Mark
Human Variome Project Quality Assessment Criteria for Variation Databases.
(
- Contribution to journal › Article
-
Mark
Both Generic and Protein-Specific Tolerance Predictors Are Needed
(
- Contribution to journal › Debate/Note/Editorial
-
Mark
Establishment of an international database for genetic variants in esophageal cancer
(
- Contribution to journal › Article
-
Mark
Variation Interpretation Predictors : Principles, Types, Performance, and Choice
(
- Contribution to journal › Article
-
Mark
PON-Sol : Prediction of effects of amino acid substitutions on protein solubility
(
- Contribution to journal › Article
- 2015
-
Mark
Finding Our Way through Phenotypes.
(
- Contribution to journal › Article
-
Mark
Harmful somatic amino acid substitutions affect key pathways in cancers.
(
- Contribution to journal › Article
-
Mark
PON-P2: Prediction Method for Fast and Reliable Identification of Harmful Variants.
(
- Contribution to journal › Article
-
Mark
Standard development at the Human Variome Project.
(
- Contribution to journal › Article
-
Mark
Muddled genetic terms miss and mess the message.
(
- Contribution to journal › Debate/Note/Editorial
-
Mark
No more hidden solutions in bioinformatics.
(
- Contribution to journal › Debate/Note/Editorial
-
Mark
Varisnp, A Benchmark Database For Variations from dbSNP.
(
- Contribution to journal › Article
-
Mark
Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.
(
- Contribution to journal › Article
-
Mark
Types and effects of protein variations.
(
- Contribution to journal › Article
-
Mark
Characterization of All Possible Single-Nucleotide Change Caused Amino Acid Substitutions in the Kinase Domain of Bruton Tyrosine Kinase
(
- Contribution to journal › Article
-
Mark
Specific autoantibody profiles and disease subgroups correlate with circulating micro-RNA in systemic sclerosis.
(
- Contribution to journal › Article
-
Mark
The importance of proper testing of predictor performance.
(
- Contribution to journal › Article
-
Mark
Genetic Variation in Bruton Tyrosine Kinase
2015) p.75-85(
- Chapter in Book/Report/Conference proceeding › Book chapter
- 2014
-
Mark
Variation ontology: annotator guide.
(
- Contribution to journal › Article
-
Mark
Clustering of gene ontology terms in genomes.
(
- Contribution to journal › Article
-
Mark
Identification of core T cell network based on immunome interactome.
(
- Contribution to journal › Article
-
Mark
Majority Vote and Other Problems when using Computational Tools.
(
- Contribution to journal › Article
-
Mark
Performance of Protein Disorder Prediction Programs on Amino Acid Substitutions
(
- Contribution to journal › Scientific review
-
Mark
Novel Association of Neurofibromatosis Type 1-Causing Mutations in Families With Neurofibromatosis-Noonan Syndrome
(
- Contribution to journal › Article
-
Mark
Proper reporting of predictor performance.
(
- Contribution to journal › Letter
-
Mark
Contribution of pseudogenes to sequence diversity.
2014) p.15-24(
- Chapter in Book/Report/Conference proceeding › Book chapter
- 2013
-
Mark
VariBench: A Benchmark Database for Variations
(
- Contribution to journal › Article
-
Mark
Copy Number Variation Analysis in Familial BRCA1/2-Negative Finnish Breast and Ovarian Cancer
(
- Contribution to journal › Article
-
Mark
Variation Ontology for annotation of variation effects and mechanisms.
2013) In Genome Research(
- Contribution to journal › Article
-
Mark
Gene Expression Profiles in Human and Mouse Primary Cells Provide New Insights into the Differential Actions of Vitamin D-3 Metabolites
(
- Contribution to journal › Article
-
Mark
Proteomic Changes during B Cell Maturation: 2D-DIGE Approach
(
- Contribution to journal › Article
-
Mark
Structure-based prediction of the effects of a missense variant on protein stability
(
- Contribution to journal › Article
-
Mark
Abnormal cerebellar development and ataxia in CARP VIII morphant zebrafish
(
- Contribution to journal › Article
-
Mark
Guidelines for reporting and using prediction tools for genetic variation analysis
(
- Contribution to journal › Article
-
Mark
Making Sense of Unclassified Missense Substitutions in MMR Genes.
(
- Contribution to journal › Article
- 2012
-
Mark
Flexibility in MuA Transposase Family Protein Structures: Functional Mapping with Scanning Mutagenesis and Sequence Alignment of Protein Homologues
(
- Contribution to journal › Article
-
Mark
How to evaluate performance of prediction methods? Measures and their interpretation in variation effect analysis
(
- Contribution to journal › Article
-
Mark
Conserved and Quickly Evolving Immunome Genes Have Different Evolutionary Paths
(
- Contribution to journal › Article
-
Mark
VarioML framework for comprehensive variation data representation and exchange
(
- Contribution to journal › Article
-
Mark
Human variome project country nodes: Documenting genetic information within a country
(
- Contribution to journal › Article
-
Mark
Curating gene variant databases (LSDBs): toward a universal standard.
(
- Contribution to journal › Article
-
Mark
Nucleolar proteins with altered expression in leukemic cell lines.
(
- Contribution to journal › Article
-
Mark
Guidelines for establishing locus specific databases.
(
- Contribution to journal › Article
-
Mark
PON-P: Integrated Predictor for Pathogenicity of Missense Variants
(
- Contribution to journal › Article
-
Mark
Classification of mismatch repair gene missense variants with PON-MMR
(
- Contribution to journal › Article
- 2011
-
Mark
Performance of mutation pathogenicity prediction methods on missense variants.
(
- Contribution to journal › Article
-
Mark
Mutation (variation) databases and registries: a rationale for coordination of efforts.
(
- Contribution to journal › Letter
-
Mark
ETS1 mediates MEK1/2-dependent overexpression of cancerous inhibitor of protein phosphatase 2A (CIP2A) in human cancer cells.
(
- Contribution to journal › Article
-
Mark
NMD and microRNA expression profiling of the HPCX1 locus reveal MAGEC1 as a candidate prostate cancer predisposition gene.
(
- Contribution to journal › Article
-
Mark
PROlocalizer: integrated web service for protein subcellular localization prediction.
(
- Contribution to journal › Article
-
Mark
Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals.
(
- Contribution to journal › Article
-
Mark
Genetic tests need the Human Variome Project.
(
- Contribution to journal › Letter
-
Mark
Clarity and claims in variation/mutation databasing.
(
- Contribution to journal › Letter
- 2010
-
Mark
How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.
(
- Contribution to journal › Article
-
Mark
Performance of protein stability predictors.
(
- Contribution to journal › Article
-
Mark
The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards".
(
- Contribution to journal › Article
-
Mark
Different molecular behavior of CD40 mutants causing hyper-IgM syndrome.
(
- Contribution to journal › Article
-
Mark
Accuracy of protein hydropathy predictions.
(
- Contribution to journal › Article
- 2009
-
Mark
Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods.
(
- Contribution to journal › Scientific review
-
Mark
A novel mutation in CD40 and its functional characterization.
(
- Contribution to journal › Article
-
Mark
Problems with anti-plagiarism database.
(
- Contribution to journal › Letter
-
Mark
Evaluation of accuracy and applicability of protein models: retrospective analysis of biological and biomedical predictions.
(
- Contribution to journal › Article
-
Mark
Crystal structure of a 1.6-hexanediol bound tetrameric form of Escherichia coli lac-repressor refined to 2.1 A resolution.
(
- Contribution to journal › Article
-
Mark
Systematic classification of primary immunodeficiencies based on clinical, pathological, and laboratory parameters.
(
- Contribution to journal › Article
-
Mark
Prediction of disease-related mutations affecting protein localization.
(
- Contribution to journal › Article
-
Mark
Copy number analysis indicates monoclonal origin of lethal metastatic prostate cancer.
(
- Contribution to journal › Letter
-
Mark
Bioinformatics services related to diagnosis of primary immunodeficiencies.
(
- Contribution to journal › Scientific review
-
Mark
Bruton's tyrosine kinase (Btk): function, regulation, and transformation with special emphasis on the PH domain.
(
- Contribution to journal › Scientific review
-
Mark
Immunome knowledge base (IKB): an integrated service for immunome research.
(
- Contribution to journal › Article
-
Mark
Planning the human variome project: the Spain report.
(
- Contribution to journal › Article
-
Mark
Sharing data between LSDBs and central repositories.
(
- Contribution to journal › Article
-
Mark
Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project.
(
- Contribution to journal › Article
-
Mark
Identification of candidate disease genes by integrating Gene Ontologies and protein-interaction networks: case study of primary immunodeficiencies.
(
- Contribution to journal › Article
- 2008
-
Mark
The EUROclass trial: defining subgroups in common variable immunodeficiency.
(
- Contribution to journal › Article
-
Mark
Genome wide analysis of pathogenic SH2 domain mutations.
(
- Contribution to journal › Article
-
Mark
Identification of differentially expressed genes after PPM1D silencing in breast cancer.
(
- Contribution to journal › Article
-
Mark
Physicochemical feature-based classification of amino acid mutations.
(
- Contribution to journal › Article
-
Mark
PseudoGeneQuest - service for identification of different pseudogene types in the human genome.
(
- Contribution to journal › Article
-
Mark
Model-based prediction of sequence alignment quality.
(
- Contribution to journal › Article
-
Mark
Efficiency of the immunome protein interaction network increases during evolution.
(
- Contribution to journal › Article
-
Mark
Expression of sterol regulatory element-binding transcription factor (SREBF) 2 and SREBF cleavage-activating protein (SCAP) in human atheroma and the association of their allelic variants with sudden cardiac death.
(
- Contribution to journal › Article
-
Mark
Dynamic covariation between gene expression and genome characteristics.
(
- Contribution to journal › Article
-
Mark
Phylogeny of Tec family kinases identification of a premetazoan origin of Btk, Bmx, Itk, Tec, Txk, and the Btk regulator SH3BP5.
(
- Contribution to journal › Scientific review
-
Mark
Human Proteinpedia enables sharing of human protein data.
(
- Contribution to journal › Letter
- 2007
-
Mark
Immunity genes and their orthologs: a multi-species database.
(
- Contribution to journal › Article
-
Mark
High-precision mapping of protein protein interfaces: an integrated genetic strategy combining en masse mutagenesis and DNA-level parallel analysis on a yeast two-hybrid platform.
(
- Contribution to journal › Article
-
Mark
Immunological systems biology: gene expression analysis of B-cell development in Ramos B-cells.
(
- Contribution to journal › Article
-
Mark
PhenCode: connecting ENCODE data with mutations and phenotype.
(
- Contribution to journal › Article
-
Mark
Spectrum of disease-causing mutations in protein secondary structures.
(
- Contribution to journal › Article
-
Mark
Molecular characterization of the immune system: emergence of proteins, processes, and domains.
(
- Contribution to journal › Article
-
Mark
ImmTree: database of evolutionary relationships of genes and proteins in the human immune system.
(
- Contribution to journal › Article
-
Mark
IDR knowledge base for primary immunodeficiencies.
(
- Contribution to journal › Article
- 2006
-
Mark
Immunodeficiency mutation databases (IDbases).
(
- Contribution to journal › Scientific review
-
Mark
BTKbase: the mutation database for X-linked agammaglobulinemia.
(
- Contribution to journal › Scientific review
-
Mark
Proteome analysis of B-cell maturation.
(
- Contribution to journal › Article
-
Mark
Immunome: a reference set of genes and proteins for systems biology of the human immune system.
(
- Contribution to journal › Article
-
Mark
Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations.
(
- Contribution to journal › Article
-
Mark
Profiling genetic variation along the androgen biosynthesis and metabolism pathways implicates several single nucleotide polymorphisms and their combinations as prostate cancer risk factors.
(
- Contribution to journal › Article
-
Mark
A statistical score for assessing the quality of multiple sequence alignments.
(
- Contribution to journal › Article
- 2005
-
Mark
Genome-wide selection of unique and valid oligonucleotides.
(
- Contribution to journal › Article
-
Mark
Distribution of immunodeficiency fact files with XML--from Web to WAP.
(
- Contribution to journal › Article
-
Mark
On exact string matching of unique oligonucleotides.
(
- Contribution to journal › Article
-
Mark
KinMutBase: a registry of disease-causing mutations in protein kinase domains.
(
- Contribution to journal › Article
-
Mark
B cells.
(
- Contribution to journal › Scientific review
-
Mark
Dynamic covariation between gene expression and proteome characteristics.
(
- Contribution to journal › Article
-
Mark
Characterization of CA XV, a new GPI-anchored form of carbonic anhydrase.
(
- Contribution to journal › Article
-
Mark
Bruton's tyrosine kinase: cell biology, sequence conservation, mutation spectrum, siRNA modifications, and expression profiling.
(
- Contribution to journal › Scientific review
- 2004
-
Mark
Characterization of CA XIII, a novel member of the carbonic anhydrase isozyme family.
(
- Contribution to journal › Article
-
Mark
Virtual bioinformatics distance learning suite*.
(
- Contribution to journal › Article
-
Mark
Fast iterative gene clustering based on information theoretic criteria for selecting the cluster structure.
(
- Contribution to journal › Article
-
Mark
APECED-causing mutations in AIRE reveal the functional domains of the protein.
(
- Contribution to journal › Article
-
Mark
Different gene expression in immunoglobulin-mutated and immunoglobulin-unmutated forms of chronic lymphocytic leukemia.
(
- Contribution to journal › Article
-
Mark
Probing the alpha-complementing domain of E. coli beta-galactosidase with use of an insertional pentapeptide mutagenesis strategy based on Mu in vitro DNA transposition.
(
- Contribution to journal › Article
-
Mark
Online registry of genetic and clinical immunodeficiency diagnostic laboratories, IDdiagnostics.
(
- Contribution to journal › Article
-
Mark
Statistical methods for identifying conserved residues in multiple sequence alignment.
(
- Contribution to journal › Article
-
Mark
Structure-function analysis of PrsA reveals roles for the parvulin-like and flanking N- and C-terminal domains in protein folding and secretion in Bacillus subtilis.
(
- Contribution to journal › Article
-
Mark
Conservation and covariance in PH domain sequences: physicochemical profile and information theoretical analysis of XLA-causing mutations in the Btk PH domain.
(
- Contribution to journal › Article
- 2003
-
Mark
Efficient estimation of emission probabilities in profile hidden Markov models.
(
- Contribution to journal › Article
-
Mark
RankViaContact: ranking and visualization of amino acid contacts.
(
- Contribution to journal › Article
-
Mark
Autoinhibition of Jak2 tyrosine kinase is dependent on specific regions in its pseudokinase domain.
(
- Contribution to journal › Article
-
Mark
Signal transduction-related bioinformatics services.
(
- Contribution to journal › Article
-
Mark
Changes in apoptosis-related pathways in acute myelocytic leukemia.
(
- Contribution to journal › Article
- 2002
-
Mark
Pattern of somatic androgen receptor gene mutations in patients with hormone-refractory prostate cancer.
(
- Contribution to journal › Article
-
Mark
Novel insertions of Bruton tyrosine kinase in patients with X-linked agammaglobulinemia.
(
- Contribution to journal › Article
-
Mark
IDR: the ImmunoDeficiency Resource.
(
- Contribution to journal › Article
-
Mark
Interaction between Btk TH and SH3 domain.
(
- Contribution to journal › Article
-
Mark
Structural basis of ICF-causing mutations in the methyltransferase domain of DNMT3B.
(
- Contribution to journal › Article
-
Mark
Overexpression of translocation-associated fusion genes of FGFRI, MYC, NPMI, and DEK, but absence of the translocations in acute myeloid leukemia. A microarray analysis.
(
- Contribution to journal › Article
-
Mark
Microarray analysis of B-cell stimulation.
(
- Contribution to journal › Article
-
Mark
Mobile access to biological databases on the Internet.
(
- Contribution to journal › Article
- 2001
-
Mark
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations
(
- Contribution to journal › Article
-
Mark
Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency
(
- Contribution to journal › Article
-
Mark
BioWAP, mobile Internet service for bioinformatics
(
- Contribution to journal › Article
-
Mark
Coevolution of the domains of cytoplasmic tyrosine kinases
(
- Contribution to journal › Article
-
Mark
On preprocessing of protein sequences for neural network prediction of polyproline type II secondary structures
(
- Contribution to journal › Article
-
Mark
The Tec family of cytoplasmic tyrosine kinases: mammalian Btk, Bmx, Itk, Tec, Txk and homologs in other species
(
- Contribution to journal › Scientific review
-
Mark
The mutational spectrum of human malignant autosomal recessive osteopetrosis
(
- Contribution to journal › Article
-
Mark
Molecular dynamics simulation of the effects of cytosine methylation on structure of oligonucleotides
(
- Contribution to journal › Article
-
Mark
Structural basis for immunodeficiency-causing mutations in the SH2 domains of BTK and SH2D1A
2001) Conference of the NATO Advanced-Study-Institute on Protein Modules in Cellular Signalling 318. p.96-103(
- Chapter in Book/Report/Conference proceeding › Paper in conference proceeding
-
Mark
Distinct gene expression profiling in chronic lymphocytic leukemia with 11q23 deletion
(
- Contribution to journal › Article
-
Mark
Intermolecular interactions between the SH3 domain and the proline-rich TH region of Bruton's tyrosine kinase
(
- Contribution to journal › Article
-
Mark
4 Primary immunodeficiency mutation databases
(
- Contribution to journal › Scientific review
-
Mark
Bioinformatics in proteomics
(
- Contribution to journal › Scientific review
-
Mark
On approximate string matching of unique oligonucleotides
(
- Chapter in Book/Report/Conference proceeding › Paper in conference proceeding
-
Mark
Analysis of Btk mutations in patients with X-linked agammaglobulinaemia (XLA) and determination of carrier status in normal female relatives: a nationwide study of Btk deficiency in Greece
(
- Contribution to journal › Article
- 2000
-
Mark
Identification of a novel transcription factor-like gene repressed during TGF-beta induced human intestinal epithelial cell differentiation.
(
- Contribution to journal › Published meeting abstract
-
Mark
KinMutBase, a database of human disease-causing protein kinase mutations
(
- Contribution to journal › Article
-
Mark
Structural basis of Wiskott-Aldrich syndrome causing mutations in the WH1 domain
(
- Contribution to journal › Article
-
Mark
Rational design and purification of human Bruton's tyrosine kinase SH3-SH2 protein for structure-function studies
(
- Contribution to journal › Article
-
Mark
Bruton tyrosine kinase (Btk) in X-linked agammaglobulinemia (XLA)
(
- Contribution to journal › Scientific review
-
Mark
The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein
(
- Contribution to journal › Article
-
Mark
Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family
(
- Contribution to journal › Article
-
Mark
Molecular modeling of the Jak3 kinase domains and structural basis for severe combined immunodeficiency
(
- Contribution to journal › Article
-
Mark
Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease
(
- Contribution to journal › Article
-
Mark
Identification of novel transcription factor-like gene from human intestinal cells
(
- Contribution to journal › Article
-
Mark
Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model
(
- Contribution to journal › Scientific review
-
Mark
V(D)J recombination defects in lymphocytes: a severe immunodeficiency with a spectrum of clinical presentations due to Rag mutations
(
- Contribution to journal › Published meeting abstract
-
Mark
Six X-linked agammaglobulinemia-causing missense mutations in the src homology 2 domain of Bruton's tyrosine kinase: Phosphotyrosine-binding and circular dichroism analysis
(
- Contribution to journal › Article
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Mark
Structural basis of bloom syndrome (BS) causing mutations in the BLM helicase domain
(
- Contribution to journal › Article
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Mark
Structure-function effects in primary immunodeficiencies
(
- Contribution to journal › Scientific review
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Mark
Novel immunodeficiency data servers
(
- Contribution to journal › Scientific review
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Mark
Neural network prediction of polyproline type II secondary structures
2000) 16th Medical Informatics Europe Congress/45th Annual Congress of the German-Association-for-Medical-Informatics-Biometry-and-Epidemiology 77. p.475-479(
- Chapter in Book/Report/Conference proceeding › Paper in conference proceeding
-
Mark
Immunodeficiency mutation databases
(
- Chapter in Book/Report/Conference proceeding › Paper in conference proceeding
- 1999
-
Mark
A novel family of DNA-polymerase-associated B subunits
(
- Contribution to journal › Article
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Mark
MUTbase: maintenance and analysis of distributed mutation databases
(
- Contribution to journal › Article
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Mark
Mutations of the human BTK gene coding for Bruton tyrosine kinase in X-linked agammaglobulinemia
(
- Contribution to journal › Article
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Mark
KinMutBase, a database of human disease-causing protein kinase mutations
(
- Contribution to journal › Article
-
Mark
Pleckstrin homology domains of Tec family protein kinases
(
- Contribution to journal › Article
- 1998
-
Mark
BTKbase, mutation database for X-linked agammaglobulinemia (XLA)
(
- Contribution to journal › Article
-
Mark
Determination and analysis of antigenic epitopes of prostate specific antigen (PSA) and human glandular kallikrein 2 (hK2) using synthetic peptides and computer modeling
(
- Contribution to journal › Article
-
Mark
Solution structure of the SH3 domain from Bruton's tyrosine kinase
(
- Contribution to journal › Article
-
Mark
Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase from rat liver - Molecular characterization
(
- Contribution to journal › Article
-
Mark
X-linked agammaglobulinemia: lack of mature B lineage cells caused by mutations in the Btk kinase
(
- Contribution to journal › Scientific review
-
Mark
Thermal unfolding of small proteins with SH3 domain folding pattern
(
- Contribution to journal › Article
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Mark
XLA - Studies on the Btk tyrosine kinase
(
- Contribution to journal › Published meeting abstract
-
Mark
Report of the ESID collaborative study on clinical features and molecular analysis in X-linked hyper-IgM syndrome.
(
- Contribution to journal › Published meeting abstract
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Mark
SH3-domain binding function of HIV-1 Nef is required for association with a PAK-related kinase
(
- Contribution to journal › Article
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Mark
Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course
(
- Contribution to journal › Article
-
Mark
Immunodeficiency mutation databases (IDbases)
(
- Contribution to journal › Published meeting abstract
-
Mark
Interactions between SH2 and SH3 domains
(
- Contribution to journal › Article
-
Mark
Androgen-sensitive human prostate cancer cells, LNCaP, produce both N-terminally mature and truncated prostate-specific antigen isoforms
(
- Contribution to journal › Article
-
Mark
Mapping and cloning of FAD2 gene to develop allele-specific PCR for oleic acid in spring turnip rape (Brassica rapa ssp. oleifera)
(
- Contribution to journal › Article
-
Mark
Stimulation of B and T cells activates expression of transcription and differentiation factors
(
- Contribution to journal › Article
-
Mark
Report of the ESID collaborative study on clinical features and molecular analysis in X-linked hyper-IgM syndrome
(
- Contribution to journal › Published meeting abstract
- 1997
-
Mark
Molecular/structural characterization of novel mutations and identification of novel polymorphisms in the Bruton's tyrosine kinase (Btk) gene from patients with X-linked agammaglobulinemia (XLA).
(
- Contribution to journal › Published meeting abstract
-
Mark
BTKbase, mutation database for X-linked agammaglobulinemia (XLA)
(
- Contribution to journal › Article
-
Mark
Registries of immunodeficiency patients and mutations
(
- Contribution to journal › Scientific review
-
Mark
Missense mutations affecting a conserved cysteine pair in the TH domain of Btk
(
- Contribution to journal › Article
-
Mark
Structural analysis of an anti-estradiol antibody
(
- Contribution to journal › Article
-
Mark
Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemia
(
- Contribution to journal › Article
-
Mark
Identification of Csk tyrosine phosphorylation sites and a tyrosine residue important for kinase domain structure
(
- Contribution to journal › Article
- 1996
-
Mark
BTKbase, mutation database for X-linked agammaglobulinemia (XLA)
(
- Contribution to journal › Article
-
Mark
Aromatic interactions define the binding of the alphavirus spike to its nucleocapsid
(
- Contribution to journal › Article
-
Mark
X-linked agammaglobulinemia (XLA): A genetic tyrosine kinase (Btk) disease
(
- Contribution to journal › Scientific review
-
Mark
Structural aspects of signal transduction in B-cells
(
- Contribution to journal › Scientific review
-
Mark
Sequence specificity in CpG mutation hotspots
(
- Contribution to journal › Article
-
Mark
Structural consequences of neopullulanase mutations
(
- Contribution to journal › Article