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List of works by Mauno Vihinen

A novel mutation in CD40 and its functional characterization.

scientific article

A statistical score for assessing the quality of multiple sequence alignments

scientific article published on 3 November 2006

A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases

scientific article published in October 2007

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

scientific article

APECED-causing mutations in AIRE reveal the functional domains of the protein

scientific article published in March 2004

Abnormal cerebellar development and ataxia in CARP VIII morphant zebrafish

scientific article published on 18 October 2012

Accuracy of protein flexibility predictions

scientific article published on 01 June 1994

Accuracy of protein hydropathy predictions

article

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

scientific article

Androgen-sensitive human prostate cancer cells, LNCaP, produce both N-terminally mature and truncated prostate-specific antigen isoforms

scientific article published on 01 July 1998

Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants

scientific article published on 03 September 2019

Autoinhibition of Jak2 tyrosine kinase is dependent on specific regions in its pseudokinase domain

scientific article

BTKbase, mutation database for X-linked agammaglobulinemia (XLA)

scientific article

BTKbase, mutation database for X-linked agammaglobulinemia (XLA)

article

BTKbase, mutation database for X-linked agammaglobulinemia (XLA).

scientific article

BTKbase: XLA-mutation registry

scientific article published on 01 November 1996

BTKbase: a database of XLA-causing mutations. International Study Group.

scientific article

BTKbase: the mutation database for X-linked agammaglobulinemia.

scientific article published on December 2006

Bioinformatics in proteomics

scientific article published in November 2001

Both Generic and Protein-Specific Tolerance Predictors Are Needed

scientific article published in October 2016

Bruton tyrosine kinase (BTK) in X-linked agammaglobulinemia (XLA).

scientific article

Bruton's tyrosine kinase (Btk): function, regulation, and transformation with special emphasis on the PH domain

scientific article

Bruton's tyrosine kinase: cell biology, sequence conservation, mutation spectrum, siRNA modifications, and expression profiling.

scientific article

C-terminal truncations of a thermostable Bacillus stearothermophilus alpha-amylase

scientific article published on 01 October 1994

CD40Lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome

article

Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project

scientific article

Changes in apoptosis-related pathways in acute myelocytic leukemia

scientific article published in October 2003

Characterization of CA XIII, a novel member of the carbonic anhydrase isozyme family

scientific journal article

Characterization of a thermostable Bacillus stearothermophilus alpha-amylase.

scientific article

Characterization of all possible single-nucleotide change caused amino acid substitutions in the kinase domain of Bruton tyrosine kinase.

scientific article

Checklist for gene/disease-specific variation database curators to enable ethical data management

scientific article published on 17 August 2019

Clarity and claims in variation/mutation databasing

scientific article published on 8 September 2011

Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.

scientific article published on September 2015

Classification of mismatch repair gene missense variants with PON-MMR

article

Clustering of gene ontology terms in genomes

scientific article published on July 2014

Computer modeling of two inorganic pyrophosphatases

scientific article published on July 1992

Conservation of functional residues between yeast and E. coli inorganic pyrophosphatases

scientific article published on 01 May 1990

Conserved and quickly evolving immunome genes have different evolutionary paths ⬇️

scientific article published on June 11, 2012

Conserved residues of liquefying α-amylases are concentrated in the vicinity of active site

scientific article published on 01 January 1990

Contribution of pseudogenes to sequence diversity

scientific article

Copy number analysis indicates monoclonal origin of lethal metastatic prostate cancer

scientific article

Correction: Gene Expression Profiles in Human and Mouse Primary Cells Provide New Insights into the Differential Actions of Vitamin D3Metabolites

scientific article published in PLoS ONE

Crystal structure of a 1.6-hexanediol bound tetrameric form of Escherichia coli lac-repressor refined to 2.1 A resolution

scientific article

Curating gene variant databases (LSDBs): toward a universal standard

article

Detection of Pathogenic Mutation Prone Locations from Protein Sequences using Solvent Accessibility Measurements

Different gene expression in immunoglobulin-mutated and immunoglobulin-unmutated forms of chronic lymphocytic leukemia.

scientific article

Different molecular behavior of CD40 mutants causing hyper-IgM syndrome.

scientific article published on 11 August 2010

Dynamic covariation between gene expression and genome characteristics

scientific article published on 8 December 2007

Dynamic covariation between gene expression and proteome characteristics

scientific article

ETS1 mediates MEK1/2-dependent overexpression of cancerous inhibitor of protein phosphatase 2A (CIP2A) in human cancer cells

scientific article published on 22 March 2011

Efficient estimation of emission probabilities in profile hidden Markov models

scientific article published in December 2003

Establishment of an international database for genetic variants in esophageal cancer

scientific article

Evaluation of accuracy and applicability of protein models: retrospective analysis of biological and biomedical predictions

scientific article published on 01 January 2009

Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies

scientific article

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

scientific article

FGF family members differentially regulate maturation and proliferation of stem cell-derived astrocytes

scientific article published on 03 July 2019

Fast iterative gene clustering based on information theoretic criteria for selecting the cluster structure

scientific article published in January 2004

Finding our way through phenotypes

scientific article

Flexibility in MuA transposase family protein structures: functional mapping with scanning mutagenesis and sequence alignment of protein homologues

scientific article

Focus on immunogenetics: diagnosis, molecular genetics, mutations, and diseases

article

Gene expression profiles in human and mouse primary cells provide new insights into the differential actions of vitamin D3 metabolites

scientific article

Generic model for biological regulation

scientific article published in 2022

Genetic Tests Need the Human Variome Project

scientific article published on 01 January 2011

Genome wide analysis of pathogenic SH2 domain mutations

scientific article

Genome-wide selection of unique and valid oligonucleotides.

scientific article

Guidelines for Reporting and Using Prediction Tools for Genetic Variation Analysis ⬇️

scientific article published on January 18, 2013

Guidelines for establishing locus specific databases.

scientific article published on 09 December 2011

Guidelines for systematic reporting of sequence alignments

scientific article published on 30 January 2020

HYDRO: a program for protein hydropathy predictions

scientific article

Harmful somatic amino acid substitutions affect key pathways in cancers

scientific article published on 19 August 2015

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

scientific article

How good are pathogenicity predictors in detecting benign variants?

scientific article published on 11 February 2019

How to Define Pathogenicity, Health, and Disease?

scientific article

How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.

scientific article

Human Proteinpedia enables sharing of human protein data

scientific article

Human Variome Project Quality Assessment Criteria for Variation Databases.

scientific article

Human Variome Project country nodes: documenting genetic information within a country

scientific article published on 18 July 2012

IDR knowledge base for primary immunodeficiencies

scientific article published on 29 March 2007

IDR: the ImmunoDeficiency Resource.

scientific article published on January 2002

Identification of candidate disease genes by integrating Gene Ontologies and protein-interaction networks: case study of primary immunodeficiencies.

scientific article published on 10 December 2008

Identification of core T cell network based on immunome interactome.

scientific article

Identification of differentially expressed genes after PPM1D silencing in breast cancer

scientific article published on 30 October 2007

Identification of novel transcription factor-like gene from human intestinal cells

scientific article (publication date: 24 September 2000)

ImmTree: database of evolutionary relationships of genes and proteins in the human immune system.

scientific article published on 21 March 2007

Immunity genes and their orthologs: a multi-species database.

scientific article

Immunodeficiency mutation databases (IDbases).

scientific article published on December 2006

Immunodeficiency mutation databases--a new research tool

scientific article published on 01 November 1996

Immunological systems biology: gene expression analysis of B-cell development in Ramos B-cells.

scientific article published on 07 May 2007

Immunome knowledge base (IKB): an integrated service for immunome research

scientific article

Immunome: a reference set of genes and proteins for systems biology of the human immune system.

scientific article published on December 2006

Interaction between Btk TH and SH3 domain

scientific article

Interactions between SH2 and SH3 Domains ⬇️

scientific article published on January 14, 1998

Intermolecular interactions between the SH3 domain and the proline-rich TH region of Bruton's tyrosine kinase.

scientific article

Isoenzymes of delta 3,delta 2-enoyl-CoA isomerase in rat liver

scientific article published on January 1, 1992

Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family

scientific article (publication date: May 2000)

KinMutBase, a database of human disease-causing protein kinase mutations

scientific article published on 01 January 1999

KinMutBase: a registry of disease-causing mutations in protein kinase domains

scientific article published in May 2005

Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseases

scientific article published on 30 May 2017

MULTICOMP: a program package for multiple sequence comparison

scientific article published in February 1992

Majority vote and other problems when using computational tools

scientific article

Microarray analysis of B-cell stimulation

scientific article published on 01 January 2002

Missense mutations affecting a conserved cysteine pair in the TH domain of Btk ⬇️

scientific article published on August 18, 1997

Mobile access to biological databases on the Internet

scientific article published on December 2002

Model-based prediction of sequence alignment quality

scientific article published on 4 August 2008

Modeling of Prostate-Specific Antigen and Human Glandular Kallikrein Structures

scientific article published on 01 November 1994

Modelling the structure of the calcitonin gene-related peptide

article

Molecular Modeling of the Jak3 Kinase Domains and Structural Basis for Severe Combined Immunodeficiency

article

Molecular characterization of the immune system: emergence of proteins, processes, and domains.

scientific article published on 09 February 2007

Muddled genetic terms miss and mess the message.

scientific article published on 16 June 2015

Mutation (variation) databases and registries: a rationale for coordination of efforts

Mutation Screening of the BTK Gene in 56 Families With X-Linked Agammaglobulinemia (XLA): 47 Unique Mutations Without Correlation to Clinical Course ⬇️

scientific article published on February 1, 1998

Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.

scientific article

Mutations of the humanBTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia

article

No more hidden solutions in bioinformatics

scientific article published in May 2015

Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.

scientific article

Novel insertions of Bruton tyrosine kinase in patients with X-linked agammaglobulinemia

scientific article published on 01 December 2002

Nucleolar proteins with altered expression in leukemic cell lines ⬇️

scientific article published on July 23, 2011

On exact string matching of unique oligonucleotides

scientific article published in February 2005

On preprocessing of protein sequences for neural network prediction of polyproline type II secondary structures.

scientific article

One Gene, Several Diseases: The Characteristics of Pleiotropic Proteins

scientific article published in March 2017

Overexpression of translocation-associated fusion genes of FGFRI, MYC, NPMI, and DEK, but absence of the translocations in acute myeloid leukemia. A microarray analysis

scientific article (publication date: June 2002)

PON-P and PON-P2 predictor performance in CAGI challenges: Lessons learned

scientific article published on 22 February 2017

PON-P2: prediction method for fast and reliable identification of harmful variants

scientific article

PON-P: integrated predictor for pathogenicity of missense variants

scientific article

PON-SC - program for identifying steric clashes caused by amino acid substitutions

scientific article published on 29 November 2017

PON-Sol: prediction of effects of amino acid substitutions on protein solubility.

scientific article

PON-mt-tRNA: a multifactorial probability-based method for classification of mitochondrial tRNA variations

scientific article published on 3 February 2016

PON-tstab: Protein Variant Stability Predictor. Importance of Training Data Quality.

scientific article published on 28 March 2018

PROlocalizer: integrated web service for protein subcellular localization prediction

scientific article published on 2 September 2010

Pan-cancer analysis of neoepitopes

scientific article published in Scientific Reports

Parkinson's disease and multiple system atrophy patient iPSC-derived oligodendrocytes exhibit alpha-synuclein-induced changes in maturation and immune reactive properties

scientific article published on 16 March 2022

Pattern of somatic androgen receptor gene mutations in patients with hormone-refractory prostate cancer

scientific article published in November 2002

Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI.

scientific article

Performance of mutation pathogenicity prediction methods on missense variants

scientific article published on 22 February 2011

Performance of protein disorder prediction programs on amino acid substitutions

scientific article

Peroxisomal multifunctional delta 3,delta 2-enoyl-CoA isomerase, 2-enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase enzyme from rat liver. Identity with peroxisomal bifunctional protein and proposed domain structure

scientific article published in January 1992

PhenCode: connecting ENCODE data with mutations and phenotype

scientific article

Phylogeny of Tec family kinases identification of a premetazoan origin of Btk, Bmx, Itk, Tec, Txk, and the Btk regulator SH3BP5.

scientific article published on January 2008

Planning the human variome project: the Spain report.

scientific article published in April 2009

Pleckstrin Homology Domains of Tec Family Protein Kinases

scientific article published on 01 November 1999

Poikilosis - pervasive biological variation

scientific article published on 12 June 2020

Poikilosis – pervasive biological variation

scientific article published in 2020

Predicting Severity of Disease-Causing Variants

scientific article

Prediction of disease-related mutations affecting protein localization

scientific article

ProTstab - predictor for cellular protein stability

scientific article published on 04 November 2019

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.

scientific article

Problems in variation interpretation guidelines and in their implementation in computational tools

scientific article published on 11 March 2020

Problems with anti-plagiarism database

scientific article published in Nature

Profiling Genetic Variation along the Androgen Biosynthesis and Metabolism Pathways Implicates Several Single Nucleotide Polymorphisms and Their Combinations as Prostate Cancer Risk Factors

scholarly article by Nina Mononen et al published 15 January 2006 in Cancer Research

Proper reporting of predictor performance

scientific article published on 01 August 2014

Proteome analysis of B-cell maturation

scientific article published on October 2006

Proteomic changes during B cell maturation: 2D-DIGE approach

scientific article

PseudoGeneQuest - service for identification of different pseudogene types in the human genome

scientific article (publication date: 2 July 2008)

RankViaContact: ranking and visualization of amino acid contacts

scientific article published on 01 November 2003

Rational design and purification of human Bruton's tyrosine kinase SH3-SH2 protein for structure-function studies.

scientific article

Recommendations for locus-specific databases and their curation

scientific article

Relationship of protein flexibility to thermostability

article

Representativeness of variation benchmark datasets

scientific article published on 29 November 2018

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 ⬇️

scientific article

Selection of a representative set of structures from Brookhaven Protein Data Bank

scientific article published on October 1, 1992

Sequence specificity in CpG mutation hotspots

scientific article

Sharing data between LSDBs and central repositories

scientific article

Simulation of the dynamics of primary immunodeficiencies in CD4+ T-cells

scientific article

Simultaneous comparison of several sequences

scientific article published on 01 January 1990

Site-directed mutagenesis of a thermostable alpha-amylase from Bacillus stearothermophilus: putative role of three conserved residues

scientific article published in February 1990

Solution structure of the SH3 domain from Bruton's tyrosine kinase

scientific article

Somatic mutation databases as tools for molecular epidemiology and molecular pathology of cancer: proposed guidelines for improving data collection, distribution, and integration

scientific article

Specific autoantibody profiles and disease subgroups correlate with circulating micro-RNA in systemic sclerosis.

scientific article published on 10 July 2015

Spectrum of disease-causing mutations in protein secondary structures

scientific article

Standard development at the Human Variome Project

scientific article

Stimulation of B and T Cells Activates Expression of Transcription and Differentiation Factors

scientific article published on 01 August 1998

Stimulation-induced gene expression in Ramos B-cells

article

Structural Similarity of the Binding Sites of Cyclophilin A-Cyclosporine A and FKBP-FK506 Systems

scientific article published on 01 April 1993

Structural analysis of an anti-estradiol antibody ⬇️

scientific article published on November 1, 1997

Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease

scientific article published on March 2000

Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease

scientific article

Structural basis of ICF-causing mutations in the methyltransferase domain of DNMT3B.

scientific article

Structure-based prediction of the effects of a missense variant on protein stability.

scientific article published on 12 October 2012

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

scientific article published on 19 February 2004

Structure-function effects in primary immunodeficiencies.

scientific article

Substitution scanning identifies a novel, catalytically active ibrutinib-resistant BTK cysteine 481 to threonine (C481T) variant.

scientific article published on 10 June 2016

Systematic Classification of Primary Immunodeficiencies Based on Clinical, Pathological, and Laboratory Parameters

article

Systematics for types and effects of DNA variations

Systematics for types and effects of RNA variations

scientific article published on 20 September 2020

Tec homology (TH) adjacent to the PH domain.

scientific article

The EUROclass trial: defining subgroups in common variable immunodeficiency.

scientific article published on 26 September 2007

The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards".

scientific article published in March 2010

The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein

scientific article (publication date: 2 June 2000)

The structural basis of hyper IgM deficiency - CD40L mutations.

scientific article

Thermal unfolding of small proteins with SH3 domain folding pattern.

scientific article

Types and effects of protein variations

scientific article published on 24 January 2015

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations

scientific article published on 01 January 2001

VariBench: a benchmark database for variations

scientific article

VariOtator, a Software Tool for Variation Annotation with the Variation Ontology.

scientific article published on 15 January 2016

VariSNP, a benchmark database for variations from dbSNP.

scientific article

Variation Interpretation Predictors: Principles, Types, Performance, and Choice

scientific article

Variation Ontology for annotation of variation effects and mechanisms

scientific article (publication date: February 2014)

Variation ontology: annotator guide

scientific article

VarioML framework for comprehensive variation data representation and exchange

scientific article (publication date: 3 October 2012)

Virtual bioinformatics distance learning suite*.

scientific article published in May 2004

Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges.

scientific article published on 21 June 2017

X-linked agammaglobulinemia: lack of mature B lineage cells caused by mutations in the Btk kinase

scientific article

cDNA microarray analysis of gene expression in coeliac disease jejunal biopsy samples.

scientific article

copy number variation analysis in familial BRCA1/2-negative Finnish breast and ovarian cancer

scientific article

Δ3,5-Δ2,4-Dienoyl-CoA Isomerase from Rat Liver

scientific article published in Journal of Biological Chemistry

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