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Spectrum of disease-causing mutations in protein secondary structures
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1 reference
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Europe PubMed Central
PMCID
1995201
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17727703%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 January 2020
title
Spectrum of disease-causing mutations in protein secondary structures
(English)
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stated in
Europe PubMed Central
PMCID
1995201
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17727703%20AND%20SRC:MED&resulttype=core&format=json
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4 January 2020
author
Mauno Vihinen
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2
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PMCID
1995201
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17727703%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 January 2020
Sofia Khan
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1
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PMCID
1995201
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17727703%20AND%20SRC:MED&resulttype=core&format=json
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4 January 2020
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Sofia Khan
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1
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PMCID
1995201
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29 September 2017
publication date
29 August 2007
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1995201
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4 January 2020
published in
BMC Structural Biology
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1995201
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17727703%20AND%20SRC:MED&resulttype=core&format=json
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4 January 2020
volume
7
1 reference
stated in
Europe PubMed Central
PMCID
1995201
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17727703%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 January 2020
page(s)
56
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Europe PubMed Central
PMCID
1995201
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17727703%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 January 2020
exact match
https://scigraph.springernature.com/pub.10.1186/1472-6807-7-56
0 references
cites work
The structural basis of hyper IgM deficiency - CD40L mutations.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Immunodeficiency mutation databases (IDbases).
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
BTKbase: the mutation database for X-linked agammaglobulinemia.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
GENE SEQUENCING: The Race for the $1000 Genome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Loss of protein structure stability as a major causative factor in monogenic disease.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Prediction of solvent accessibility and sites of deleterious mutations from protein sequence.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Disease-related misassembly of membrane proteins
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
The challenge of documenting mutation across the genome: the human genome variation society approach
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Conservation and covariance in PH domain sequences: physicochemical profile and information theoretical analysis of XLA-causing mutations in the Btk PH domain.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
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.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Protein folding and misfolding
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Genew: the Human Gene Nomenclature Database, 2004 updates
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
The amino-acid mutational spectrum of human genetic disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Molecular basis of inherited diseases: a structural perspective
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Structural basis of ICF-causing mutations in the methyltransferase domain of DNMT3B.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Human non-synonymous SNPs: server and survey
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Guidelines for human gene nomenclature
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Characterization of disease-associated single amino acid polymorphisms in terms of sequence and structure properties.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Predicting deleterious amino acid substitutions
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
SNPs, protein structure, and disease.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: structure-based assessment of amino acid variation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Prediction of deleterious human alleles
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Integration of genome data and protein structures: prediction of protein folds, protein interactions and "molecular phenotypes" of single nucleotide polymorphisms
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Environment-dependent residue contact energies for proteins.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
The Protein Data Bank
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Cys-scanning mutagenesis: a novel approach to structure function relationships in polytopic membrane proteins
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Deviations from standard atomic volumes as a quality measure for protein crystal structures
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Sequence specificity in CpG mutation hotspots
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Secondary structure prediction of all-helical proteins in two states.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
SCOP: a structural classification of proteins database for the investigation of sequences and structures
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
BTKbase: a database of XLA-causing mutations. International Study Group.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Dictionary of protein secondary structure: pattern recognition of hydrogen-bonded and geometrical features
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Analysis of the code relating sequence to conformation in proteins: Possible implications for the mechanism of formation of helical regions
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Prediction of protein conformation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Hydrophobicity scales and computational techniques for detecting amphipathic structures in proteins
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Helix geometry in proteins
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
A simple method for predicting the secondary structure of globular proteins: implications and accuracy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Amino acid preferences for specific locations at the ends of alpha helices
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
The CpG dinucleotide and human genetic disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Conformational properties of amino acid residues in globular proteins
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Analysis of the accuracy and implications of simple methods for predicting the secondary structure of globular proteins
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
Molecular basis of base substitution hotspots in Escherichia coli
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
20 June 2018
KinMutBase: a registry of disease-causing mutations in protein kinase domains
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
26 November 2018
Prediction of the phenotypic effects of non-synonymous single nucleotide polymorphisms using structural and evolutionary information.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
26 November 2018
Missense mutations in transmembrane domains of proteins: phenotypic propensity of polar residues for human disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
26 November 2018
Human Gene Mutation Database (HGMD): 2003 update.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
26 November 2018
Evaluation of structural and evolutionary contributions to deleterious mutation prediction.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
26 November 2018
Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995201
retrieved
26 November 2018
RankViaContact: ranking and visualization of amino acid contacts
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/17727703
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
CD40Lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/17727703
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Prediction of nonsynonymous single nucleotide polymorphisms in human disease-associated genes
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/17727703
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Structural basis of Wiskott-Aldrich syndrome causing mutations in the WH1 domain
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/17727703
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1186/1472-6807-7-56
1 reference
stated in
Europe PubMed Central
PMCID
1995201
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17727703%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 January 2020
Dimensions Publication ID
1046274733
0 references
PMCID
1995201
1 reference
stated in
Europe PubMed Central
PMCID
1995201
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17727703%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 January 2020
PubMed ID
17727703
1 reference
stated in
Europe PubMed Central
PMCID
1995201
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17727703%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 January 2020
ResearchGate publication ID
6112110
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