In silico functional profiling of human disease-associated and polymorphic amino acid substitutions (Q34995109)

5 August 2017

In silico functional profiling of human disease-associated and polymorphic amino acid substitutions (English)

1 reference

5 August 2017

1 reference

14

1 reference

5 August 2017

15

Predrag Radivojac

1 reference

5 August 2017

16

Sean D Mooney

1 reference

5 August 2017

12

Nigam H Shah

1 reference

5 August 2017

1

Matthew Mort

1 reference

5 August 2017

Uday S Evani

2

1 reference

5 August 2017

Vidhya G Krishnan

3

1 reference

5 August 2017

Kishore K Kamati

4

1 reference

5 August 2017

Peter H Baenziger

5

1 reference

5 August 2017

Angshuman Bagchi

6

1 reference

5 August 2017

Brandon J Peters

7

1 reference

5 August 2017

Rakesh Sathyesh

8

1 reference

5 August 2017

Biao Li

9

1 reference

5 August 2017

Yanan Sun

10

1 reference

5 August 2017

Bin Xue

11

1 reference

5 August 2017

Maricel G Kann

13

1 reference

5 August 2017

1 March 2010

1 reference

5 August 2017

1 reference

5 August 2017

31

1 reference

5 August 2017

3

1 reference

5 August 2017

335-346

1 reference

Identification, analysis, and prediction of protein ubiquitination sites

5 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

A survey of proteins encoded by non-synonymous single nucleotide polymorphisms reveals a significant fraction with altered stability and activity

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Functional annotations improve the predictive score of human disease-related mutations in proteins

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Common vs. rare allele hypotheses for complex diseases

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Next generation tools for the annotation of human SNPs

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

UMLS-Query: a perl module for querying the UMLS

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Human Protein Reference Database--2009 update

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Assessment of functional effects of unclassified genetic variants

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

In silico analysis of missense substitutions using sequence-alignment based methods

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Improving the prediction accuracy of residue solvent accessibility and real-value backbone torsion angles of proteins by guided-learning through a two-layer neural network.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

A three-state prediction of single point mutations on protein stability changes.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Prediction of cancer driver mutations in protein kinases

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

MutDB: update on development of tools for the biochemical analysis of genetic variation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Annotation and query of tissue microarray data using the NCI Thesaurus

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

SNAP: predict effect of non-synonymous polymorphisms on function

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Patterns of somatic mutation in human cancer genomes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Ontology-based annotation and query of tissue microarray data.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Deleterious SNP prediction: be mindful of your training data!

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Intrinsic disorder and functional proteomics

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

DisProt: the Database of Disordered Proteins

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

PolyDoms: a whole genome database for the identification of non-synonymous coding SNPs with the potential to impact disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

PANTHER version 6: protein sequence and function evolution data with expanded representation of biological pathways

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Searching for interpretable rules for disease mutations: a simulated annealing bump hunting strategy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

The consensus coding sequences of human breast and colorectal cancers

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Analysis of molecular recognition features (MoRFs)

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Predicting the effects of amino acid substitutions on protein function

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Length-dependent prediction of protein intrinsic disorder.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

SNPs3D: candidate gene and SNP selection for association studies.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Loss of protein structure stability as a major causative factor in monogenic disease.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

LS-SNP: large-scale annotation of coding non-synonymous SNPs based on multiple information sources.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Bioinformatics approaches and resources for single nucleotide polymorphism functional analysis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Intrinsically unstructured proteins and their functions

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

The importance of intrinsic disorder for protein phosphorylation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

The Catalytic Site Atlas: a resource of catalytic sites and residues identified in enzymes using structural data

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

A comparative study of machine-learning methods to predict the effects of single nucleotide polymorphisms on protein function.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Molecular basis of inherited diseases: a structural perspective

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

SIFT: Predicting amino acid changes that affect protein function

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

The SWISS-PROT protein knowledgebase and its supplement TrEMBL in 2003

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Intrinsic disorder in cell-signaling and cancer-associated proteins

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Human non-synonymous SNPs: server and survey

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Intrinsically disordered protein

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

SNPs, protein structure, and disease.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: structure-based assessment of amino acid variation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Polymorphisms of alpha-adducin and salt sensitivity in patients with essential hypertension

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Dictionary of protein secondary structure: pattern recognition of hydrogen-bonded and geometrical features

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Comparison of the predicted and observed secondary structure of T4 phage lysozyme

8 July 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21192

Tau gene mutation K257T causes a tauopathy similar to Pick's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21192

The Human Gene Mutation Database: 2008 update

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Gain and loss of phosphorylation sites in human cancer

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Use of estimated evolutionary strength at the codon level improves the prediction of disease-related protein mutations in humans

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Real-SPINE: an integrated system of neural networks for real-value prediction of protein structural properties.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Evaluation of features for catalytic residue prediction in novel folds

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Modeling and analyzing three-dimensional structures of human disease proteins

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Improving functional annotation of non-synonomous SNPs with information theory.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Polymorphisms in the hypoxia inducible factor-1alpha gene (HIF1A) are associated with the renal cell carcinoma phenotype

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Evaluation of structural and evolutionary contributions to deleterious mutation prediction.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Evolutionary rate heterogeneity in proteins with long disordered regions.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Improving sequence alignments for intrinsically disordered proteins.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Relationship between in vivo activity and in vitro measures of function and stability of a protein

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

SNP Function Portal: a web database for exploring the function implication of SNP alleles

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Selective Pressures at a Codon-level Predict Deleterious Mutations in Human Disease Genes

9 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098813

Protein recognition motifs: design of peptidomimetics of helix surfaces

9 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20052762

12 December 2020

inferred from PubMed ID database lookup

Calmodulin signaling: analysis and prediction of a disorder-dependent molecular recognition

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20052762

12 December 2020

inferred from PubMed ID database lookup

Calmodulin target database

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20052762

12 December 2020

inferred from PubMed ID database lookup

A novel mutation in fibroblast growth factor 23 gene as a cause of tumoral calcinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21192

7 January 2021

Defective O-glycosylation due to a novel homozygous S129P mutation is associated with lack of fibroblast growth factor 23 secretion and tumoral calcinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21192

7 January 2021

Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21192

7 January 2021

Marker segregation information in breast/ovarian cancer genetic counseling: is it still useful? Groupe Génétique et Cancer de la Fédération Nationale des Centres de Lutte Contre le Cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21192

7 January 2021

Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21192

7 January 2021

A mutation linked to retinitis pigmentosa in HPRP31 causes protein instability and impairs its interactions with spliceosomal snRNPs.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21192

7 January 2021

Differential regulation of p53 and p21 by MKRN1 E3 ligase controls cell cycle arrest and apoptosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21192

7 January 2021

Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21192

7 January 2021

1.85-A resolution crystal structure of human ornithine transcarbamoylase complexed with N-phosphonacetyl-L-ornithine. Catalytic mechanism and correlation with inherited deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21192

7 January 2021

Unusual sites of arginine methylation in Poly(A)-binding protein II and in vitro methylation by protein arginine methyltransferases PRMT1 and PRMT3

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21192

7 January 2021

Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21192

7 January 2021

A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21192

7 January 2021

Heterogeneous nuclear ribonucleoprotein G-T (HNRNP G-T) mutations in men with impaired spermatogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21192

7 January 2021

Low RET mutation frequency and polymorphism analysis of the RET and EDNRB genes in patients with Hirschsprung disease in Taiwan

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21192

7 January 2021

Identifiers

DOI

10.1002/HUMU.21192

1 reference

5 August 2017

1 reference

5 August 2017

1 reference