(Q40087921)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23350563%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

title

Proteome-wide analysis of nonsynonymous single-nucleotide variations in active sites of human proteins (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23350563%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23350563%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

author name string

Hayley Dingerdissen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23350563%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Mona Motwani

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23350563%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Konstantinos Karagiannis

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23350563%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Vahan Simonyan

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23350563%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

language of work or name

English

0 references

publication date

24 February 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23350563%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23350563%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

volume

280

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23350563%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23350563%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

page(s)

1542-1562

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23350563%20AND%20SRC:MED&resulttype=core&format=json

Reorganizing the protein space at the Universal Protein Resource (UniProt)

22 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

CDD: a Conserved Domain Database for the functional annotation of proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

MACiE: exploring the diversity of biochemical reactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

LIGPLOT: a program to generate schematic diagrams of protein-ligand interactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

The impact of single nucleotide polymorphisms on human aldehyde oxidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

A nonsynonymous SNP in human cytosolic sialidase in a small Asian population results in reduced enzyme activity: potential link with severe adverse reactions to oseltamivir.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Genome-wide association study identifies GIMAP as a novel susceptibility locus for Behcet's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Differentiation between pathogenic serotype 1 isolates of Marek's disease virus and the Rispens CVI988 vaccine in Australia using real-time PCR and high resolution melt curve analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Heterozygous loss of NF2 is an early molecular alteration in well-differentiated papillary mesothelioma of the peritoneum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Cellular and biochemical impact of a mutation in DNA ligase IV conferring clinical radiosensitivity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Predict impact of single amino acid change upon protein structure

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Influence of point mutations on protein structure: probability of a neutral mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Structural and functional restraints on the occurrence of single amino acid variations in human proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

dbSNP: the NCBI database of genetic variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Proteome-wide analysis of single-nucleotide variations in the N-glycosylation sequon of human genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Genetic variation in an individual human exome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

p.D645E of acid α-glucosidase is the most common mutation in thai patients with infantile-onset pompe disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

DNA methylation, isocitrate dehydrogenase mutation, and survival in glioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

A genome-wide association scan on estrogen receptor-negative breast cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Identification of colorectal cancer related genes with mRMR and shortest path in protein-protein interaction network

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

UGT1A1*28 polymorphism as a determinant of irinotecan disposition and toxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Association of heparanase gene (HPSE-1) single nucleotide polymorphisms with gastric cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Acute lung injury and the coagulation pathway: Potential role of gene polymorphisms in the protein C and fibrinolytic pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Regulation of DNA damage-induced apoptosis by the c-Abl tyrosine kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

The c-Abl tyrosine kinase phosphorylates the Fe65 adaptor protein to stimulate Fe65/amyloid precursor protein nuclear signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Inhibition of Akt and its anti-apoptotic activities by tumor necrosis factor-induced protein kinase C-related kinase 2 (PRK2) cleavage

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Molecular mechanism of an oncogenic mutation that alters membrane targeting: Glu17Lys modifies the PIP lipid specificity of the AKT1 PH domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

A growth-suppressive function for the c-fes protein-tyrosine kinase in colorectal cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Pathological significance and predictive value for biochemical recurrence of c-Fes expression in prostate cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Potential role of glycogen synthase kinase-3 in skeletal muscle insulin resistance of type 2 diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Two types of abnormal genes for plasminogen in families with a predisposition for thrombosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

The molecular mechanism of lead inhibition of human porphobilinogen synthase

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

ALAD porphyria is a conformational disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Cloning and expression of the defective genes from a patient with delta-aminolevulinate dehydratase porphyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

A description of large-scale metabolomics studies: increasing value by combining metabolomics with genome-wide SNP genotyping and transcriptional profiling

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Conservation of core gene expression in vertebrate tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Systematic review and meta-analysis of the relationship between EPHX1 polymorphisms and colorectal cancer risk

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Pharmacogenetic effect of the stromelysin (MMP3) polymorphism on stroke risk in relation to antihypertensive treatment: the genetics of hypertension associated treatment study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

QuickGO: a web-based tool for Gene Ontology searching

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Autosomal recessive segregation of a truncating mutation of anti-Müllerian type II receptor in a family affected by the persistent Müllerian duct syndrome contrasts with its dominant negative activity in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Potential involvement of adipocyte insulin resistance in obesity-associated up-regulation of adipocyte lysophospholipase D/autotaxin expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Aneurysm syndromes caused by mutations in the TGF-beta receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Structure of human pro-matrix metalloproteinase-2: activation mechanism revealed

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

MEDIC: a practical disease vocabulary used at the Comparative Toxicogenomics Database.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Disease Ontology: a backbone for disease semantic integration

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Patterns of somatic mutation in human cancer genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Y-chromosome markers in Turner syndrome: Screening of 130 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

LADD syndrome is caused by FGF10 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Mutations in different components of FGF signaling in LADD syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

A common variant in PNPLA3, which encodes adiponutrin, is associated with liver fat content in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Dihydropteridine reductase deficiency: Physical structure of the QDPR gene, identification of two new mutations and genotype–phenotype correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Gene therapy for the circumvention of inborn errors of metabolism (IEM) caused by single-nucleotide-polymorphisms (SNPs).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Heterozygote advantage of the MTHFR C677T polymorphism on specific cognitive performance in elderly Chinese males without dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Origin and evolution of the genetic code: the universal enigma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Codon populations in single-stranded whole human genome DNA Are fractal and fine-tuned by the Golden Ratio 1.618.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Using the KEGG database resource.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

PANTHER pathway: an ontology-based pathway database coupled with data analysis tools

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Common nonsynonymous variants in PCSK1 confer risk of obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

Variants in the gene encoding aldose reductase (AKR1B1) and diabetic nephropathy in American Indians

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FFEBS.12155

21 January 2018

Identifiers

DOI

10.1111/FEBS.12155

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23350563%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference