(Q30360539)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17370310%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17370310%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17370310%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Minna Nyström

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17370310%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

John Christodoulou

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17370310%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

author name string

Philip A Chan

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17370310%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Sekhar Duraisamy

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17370310%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Peter J Miller

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17370310%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Joan A Newell

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17370310%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Carole McBride

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17370310%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Jeffrey P Bond

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17370310%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Tiina Raevaara

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17370310%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Andrew J Grimm

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17370310%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

William S Oetting

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17370310%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Marc S Greenblatt

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17370310%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

publication date

1 July 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17370310%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17370310%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

volume

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17370310%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

page(s)

683-693

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17370310%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17370310%20AND%20SRC:MED&resulttype=core&format=json

Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma

27 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

Point mutations can inactivate in vitro and in vivo activities of p16(INK4a)/CDKN2A in human glioma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

Sequence variation in G-protein-coupled receptors: analysis of single nucleotide polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

Prediction of the phenotypic effects of non-synonymous single nucleotide polymorphisms using structural and evolutionary information.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

Tumor suppressor p16INK4A: determination of solution structure and analyses of its interaction with cyclin-dependent kinase 4

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

Characterization of single-nucleotide polymorphisms in coding regions of human genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

RettBASE: The IRSA MECP2 variation database-a new mutation database in evolution

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

Quantitative Estimates of Sequence Divergence for Comparative Analyses of Mammalian Genomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

Amino acid difference formula to help explain protein evolution

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

Detailed computational study of p53 and p16: using evolutionary sequence analysis and disease-associated mutations to predict the functional consequences of allelic variants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

Germline Mutations of the CDKN2 Gene in UK Melanoma Families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

Amino acid substitution matrices from protein blocks

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

Overview of commonly used bioinformatics methods and their applications

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

Diagnostics of rectal cancer: endorectal ultrasound

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

Tumour-derived p16 alleles encoding proteins defective in cell-cycle inhibition

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

Patients with both pancreatic adenocarcinoma and melanoma may harbor germline CDKN2A mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

The interpretation of protein structures: Estimation of static accessibility

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

Cancer-associated mis-sense and deletion mutations impair p16INK4 CDK inhibitory activity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

Understanding human disease mutations through the use of interspecific genetic variation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

CDKN2A mutations in multiple primary melanomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

The CDKN2A database: Integrating allelic variants with evolution, structure, function, and disease association

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

Predicting deleterious amino acid substitutions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

Classification of BRCA1 missense variants of unknown clinical significance

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

Somatic INK4a-ARF locus mutations: a significant mechanism of gene inactivation in squamous cell carcinomas of the head and neck

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

Human non-synonymous SNPs: server and survey

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

Mutations associated with familial melanoma impair p16INK4 function.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

Mutations in theINK4a/ARFMelanoma Susceptibility Locus Functionally Impair p14ARF

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

Functional evaluation of tumour-specific variants of p16INK4a/CDKN2A: correlation with protein structure information.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

CDKN2A mutation in a non-FAMMM kindred with cancers at multiple sites results in a functionally abnormal protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

Usefulness of clinical prediction rules for the diagnosis of venous thromboembolism: a systematic review

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

Evolutionary conservation and somatic mutation hotspot maps of p53: correlation with p53 protein structural and functional features.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

Functional reassessment of P16 variants using a transfection-based assay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

Target SNP selection in complex disease association studies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

Many amino acid substitution variants identified in DNA repair genes during human population screenings are predicted to impact protein function.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

Biologic and biochemical analyses of p16(INK4a) mutations from primary tumors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20492

7 January 2021

Identifiers

DOI

10.1002/HUMU.20492

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17370310%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

1 reference