(Q42250997)

19 October 2017

A rational free energy-based approach to understanding and targeting disease-causing missense mutations (English)

1 reference

19 October 2017

Maria Miteva

5

0 references

author name string

Zhe Zhang

1

1 reference

19 October 2017

Shawn Witham

2

1 reference

19 October 2017

Marharita Petukh

3

1 reference

19 October 2017

Gautier Moroy

4

1 reference

19 October 2017

Yoshihiko Ikeguchi

6

1 reference

19 October 2017

Emil Alexov

7

1 reference

19 October 2017

13 February 2013

1 reference

Journal of the American Medical Informatics Association

19 October 2017

1 reference

19 October 2017

20

1 reference

19 October 2017

4

1 reference

19 October 2017

643-651

1 reference

An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.

19 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Paralogous annotation of disease-causing variants in long QT syndrome genes

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Predicting folding free energy changes upon single point mutations

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Identification of sequence variants in genetic disease-causing genes using targeted next-generation sequencing

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Toward in silico structure-based ADMET prediction in drug discovery.

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Novel allosteric sites on Ras for lead generation

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

The linear interaction energy method for the prediction of protein stability changes upon mutation

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

AUDocker LE: A GUI for virtual screening with AUTODOCK Vina

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Challenges in the development of companion diagnostics for neuropsychiatric disorders

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Structure-based drug design to augment hit discovery

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Machine learning algorithms for predicting protein folding rates and stability of mutant proteins: comparison with statistical methods

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

In silico and in vitro investigations of the mutability of disease-causing missense mutation sites in spermine synthase

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

The FAF-Drugs2 server: a multistep engine to prepare electronic chemical compound collections

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

PoPMuSiC 2.1: a web server for the estimation of protein stability changes upon mutation and sequence optimality

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

A graphical interface for the FoldX forcefield

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Computational analysis of missense mutations causing Snyder-Robinson syndrome

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Frog2: Efficient 3D conformation ensemble generator for small compounds.

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Performance of protein stability predictors.

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Structure-based drug discovery for tropical diseases

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

An overview on GPCRs and drug discovery: structure-based drug design and structural biology on GPCRs

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

AutoDock Vina: Improving the speed and accuracy of docking with a new scoring function, efficient optimization, and multithreading

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

CLIC2-RyR1 interaction and structural characterization by cryo-electron microscopy

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Modeling effects of human single nucleotide polymorphisms on protein-protein interactions

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

McKusick's Online Mendelian Inheritance in Man (OMIM)

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Targeted rescue of a destabilized mutant of p53 by an in silico screened drug

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Crystal Structure of Human Spermine Synthase: IMPLICATIONS OF SUBSTRATE BINDING AND CATALYTIC MECHANISM

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Expression, purification, crystallization and preliminary X-ray diffraction analysis of chloride intracellular channel 2 (CLIC2).

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Structure of the Janus protein human CLIC2

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Detecting disease-causing mutations in the human genome by haplotype matching

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

The FoldX web server: an online force field

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Small-molecule-mediated stabilization of familial amyotrophic lateral sclerosis-linked superoxide dismutase mutants against unfolding and aggregation

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

ProTherm, version 4.0: thermodynamic database for proteins and mutants

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

DNA testing for familial hypercholesterolemia: improving disease recognition and patient care

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Combining conformational flexibility and continuum electrostatics for calculating pK(a)s in proteins

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Gut-enriched Kruppel-like factor represses ornithine decarboxylase gene expression and functions as checkpoint regulator in colonic cancer cells

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

The crystal structure of spermidine synthase with a multisubstrate adduct inhibitor

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Genomic structure of a novel chloride channel gene, CLIC2, in Xq28

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

DNA analysis indicates patient-specific human papillomavirus type 16 strains in Bowen's disease on fingers and in archival samples from genital dysplasia

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Incorporating protein conformational flexibility into the calculation of pH-dependent protein properties

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Effects of inhibitors of spermidine synthase and spermine synthase on polyamine synthesis in rat tissues

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Free energy calculations of the mutation of Ile96-->Ala in barnase: contributions to the difference in stability.

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Making personalized cancer medicine a reality: challenges and opportunities in the development of biomarkers and companion diagnostics

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Spermine synthase deficiency resulting in X-linked intellectual disability (Snyder-Robinson syndrome).

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Large-scale sequencing to identify disease causing variants in X-linked mental retardation.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Assessing computational methods for predicting protein stability upon mutation: good on average but not in the details.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Structure-based approaches to antibiotic drug discovery

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Robust prediction of mutation-induced protein stability change by property encoding of amino acids

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

An application of gene comparative image for predicting the effect on replication ratio by HBV virus gene missense mutation

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Mitochondrial DNA point mutation in the COI gene in a patient with McArdle's disease.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Predicting free energy contributions to the conformational stability of folded proteins from the residue sequence with radial basis function networks

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721167

Challenges ahead for companion diagnostics

17 August 2018

1 reference

12 December 2020

Assay of spermidine and spermine synthases

1 reference

12 December 2020

PhenOMIM: an OMIM-based secondary database purported for phenotypic comparison

1 reference

12 December 2020

Personalized medicine--trends in molecular diagnostics: exponential growth expected in the next ten years

1 reference

12 December 2020

Companion diagnostics

1 reference

12 December 2020

Cancer biomarkers, companion diagnostics and personalized oncology

1 reference

12 December 2020

Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD) without DNA from an index patient in a current pregnancy

1 reference

12 December 2020

Diagnostics and personalized medicine: observations from the World Companion Diagnostics Summit

1 reference

12 December 2020

Molecular mechanism of dysfunctional factor VII associated with the homozygous missense mutation 331Gly to Ser

1 reference

12 December 2020

Online Mendelian Inheritance in Man 'OMIM'

1 reference

12 December 2020

10.1136/AMIAJNL-2012-001505

Identifiers

DOI

1 reference

journals/jamia/ZhangWPMMIA13

19 October 2017

1 reference

DBLP Dataset 2021-01-02

28 January 2021

1 reference

19 October 2017

PubMed publication ID

23408511

1 reference