(Q58531994)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22290698%20AND%20SRC:MED&resulttype=core&format=json

25 May 2020

author name string

Heidi Ali

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22290698%20AND%20SRC:MED&resulttype=core&format=json

25 May 2020

Ayodeji Olatubosun

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22290698%20AND%20SRC:MED&resulttype=core&format=json

25 May 2020

publication date

12 March 2012

0 references

published in

Human Mutation

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22290698%20AND%20SRC:MED&resulttype=core&format=json

25 May 2020

volume

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22290698%20AND%20SRC:MED&resulttype=core&format=json

25 May 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22290698%20AND%20SRC:MED&resulttype=core&format=json

25 May 2020

page(s)

642-650

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22290698%20AND%20SRC:MED&resulttype=core&format=json

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

25 May 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

nsSNPAnalyzer: identifying disease-associated nonsynonymous single nucleotide polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

SNAP: predict effect of non-synonymous polymorphisms on function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Prediction of protein stability changes for single-site mutations using support vector machines

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Multiple sequence alignment with the Clustal series of programs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

AGGRESCAN: a server for the prediction and evaluation of "hot spots" of aggregation in polypeptides

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Investigation on the role of nsSNPs in HNPCC genes--a bioinformatics approach.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

IUPred: web server for the prediction of intrinsically unstructured regions of proteins based on estimated energy content

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Stabilization centers in proteins: identification, characterization and predictions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

SCide: identification of stabilization centers in proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Feasibility of screening for Lynch syndrome among patients with colorectal cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

STRIDE: a web server for secondary structure assignment from known atomic coordinates of proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

PrDOS: prediction of disordered protein regions from amino acid sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Prediction of disordered regions in proteins based on the meta approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

HNPCC mutations in the human DNA mismatch repair gene hMLH1 influence assembly of hMutLalpha and hMLH1-hEXO1 complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

MSH6 missense mutations are often associated with no or low cancer susceptibility

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Spectrum of disease-causing mutations in protein secondary structures

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Performance of protein stability predictors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Automated inference of molecular mechanisms of disease from amino acid substitutions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Protein disorder prediction: implications for structural proteomics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Diagnosis and management of hereditary colorectal cancer syndromes: Lynch syndrome as a model

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

SRide: a server for identifying stabilizing residues in proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

SIFT: Predicting amino acid changes that affect protein function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Waltz, an exciting new move in amyloid prediction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Sequence specificity in CpG mutation hotspots

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Biochemical characterization of MLH3 missense mutations does not reveal an apparent role of MLH3 in Lynch syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Length-dependent prediction of protein intrinsic disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

MutationTaster evaluates disease-causing potential of sequence alterations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

RankViaContact: ranking and visualization of amino acid contacts

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Automated analysis of interatomic contacts in proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

SPACE: a suite of tools for protein structure prediction and analysis based on complementarity and environment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Performance of mutation pathogenicity prediction methods on missense variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Prediction and Functional Analysis of Native Disorder in Proteins from the Three Kingdoms of Life

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Structure of the human MutSalpha DNA lesion recognition complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

Analysis of hMLH1 missense mutations in East Asian patients with suspected hereditary nonpolyposis colorectal cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

7 January 2021

The first functional study of MLH3 mutations found in cancer patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

7 January 2021

Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

7 January 2021

POODLE-S: web application for predicting protein disorder by using physicochemical features and reduced amino acid set of a position-specific scoring matrix

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

7 January 2021

Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22038

7 January 2021

Identifiers

DOI

10.1002/HUMU.22038

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22290698%20AND%20SRC:MED&resulttype=core&format=json

25 May 2020

1 reference