(Q36752464)

16 August 2017

Congenital disease SNPs target lineage specific structural elements in protein kinases (English)

1 reference

16 August 2017

0 references

4

Nicholas J Schork

1 reference

16 August 2017

Ali Torkamani

1

1 reference

16 August 2017

Natarajan Kannan

series ordinal

2

1 reference

16 August 2017

Susan S Taylor

series ordinal

3

1 reference

16 August 2017

language of work or name

English

0 references

publication date

25 June 2008

1 reference

Proceedings of the National Academy of Sciences of the United States of America

16 August 2017

1 reference

16 August 2017

105

1 reference

16 August 2017

26

1 reference

16 August 2017

9011-9016

1 reference

Prediction of cancer driver mutations in protein kinases

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

Proportionally more deleterious genetic variation in European than in African populations.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

Analogous regulatory sites within the alphaC-beta4 loop regions of ZAP-70 tyrosine kinase and AGC kinases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

Structural basis for the inhibition of tyrosine kinase activity of ZAP-70

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

Structural and functional diversity of the microbial kinome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

The hallmark of AGC kinase functional divergence is its C-terminal tail, a cis-acting regulatory module

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

Surface comparison of active and inactive protein kinases identifies a conserved activation mechanism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

Predicting the effects of amino acid substitutions on protein function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

Using substrate-binding variants of the cAMP-dependent protein kinase to identify novel targets and a kinase domain important for substrate interactions in Saccharomyces cerevisiae

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

Genetic association studies of complex traits: design and analysis issues

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

The Molecular Biology Toolkit (MBT): a modular platform for developing molecular visualization applications

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

Regulation of protein kinases; controlling activity through activation segment conformation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

Novel PINK1 mutations in early-onset parkinsonism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

WebLogo: A Sequence Logo Generator

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

A myristoyl/phosphotyrosine switch regulates c-Abl

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

The protein kinase complement of the human genome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

Genotype-phenotype correlation in inherited severe insulin resistance

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

Specific immunoglobulin E responses in ZAP-70-deficient patients are mediated by Syk-dependent T-cell receptor signalling

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

Distinct T cell developmental consequences in humans and mice expressing identical mutations in the DLAARN motif of ZAP-70.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

Germline-activating mutation in the kinase domain of KIT gene in familial gastrointestinal stromal tumors

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

The Croonian Lecture 1997. The phosphorylation of proteins on tyrosine: its role in cell growth and disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

Crystal structure of the activated insulin receptor tyrosine kinase in complex with peptide substrate and ATP analog

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

Protein kinases 6. The eukaryotic protein kinase superfamily: kinase (catalytic) domain structure and classification

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

Mechanism of CDK activation revealed by the structure of a cyclinA-CDK2 complex

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

Substitution of glutamine for arginine 1131. A newly identified mutation in the catalytic loop of the tyrosine kinase domain of the human insulin receptor.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

Crystal Structure of the Catalytic Subunit of Cyclic Adenosine Monophosphate-Dependent Protein Kinase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

Different effects of point mutations within the B-Raf glycine-rich loop in colorectal tumors on mitogen-activated protein/extracellular signal-regulated kinase kinase/extracellular signal-regulated kinase and nuclear factor kappaB pathway and cellul

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

Integrin-linked kinase regulates phosphorylation of serine 473 of protein kinase B by an indirect mechanism

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

Kinetic analyses of mutations in the glycine-rich loop of cAMP-dependent protein kinase.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2449356

KinMutBase: a registry of disease-causing mutations in protein kinase domains

28 June 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0802403105

Human Gene Mutation Database (HGMD): 2003 update

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0802403105

Accurate prediction of deleterious protein kinase polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0802403105

Distribution analysis of nonsynonymous polymorphisms within the human kinase gene family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0802403105

Protein kinase resource: an integrated environment for phosphorylation research

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0802403105

Ala1048-->Asp mutation in the kinase domain of insulin receptor causes defective kinase activity and insulin resistance

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0802403105

Did protein kinase regulatory mechanisms evolve through elaboration of a simple structural component?

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0802403105

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0802403105

Docking motif interactions in MAP kinases revealed by hydrogen exchange mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0802403105

Allosteric network of cAMP-dependent protein kinase revealed by mutation of Tyr204 in the P+1 loop

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0802403105

Higher-Order Substrate Recognition of eIF2α by the RNA-Dependent Protein Kinase PKR

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0802403105

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0802403105

Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of Btk deficiency in Japan

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18579784

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Role of the glycine triad in the ATP-binding site of cAMP-dependent protein kinase

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18579784

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Analysis of KIT, SCF, and initial screening of SLUG in patients with piebaldism

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18579784

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.0802403105

1 reference

16 August 2017

0 references

1 reference

16 August 2017

PubMed publication ID

18579784

1 reference