(Q34088851)

30 July 2017

1 reference

title

Kinase mutations in human disease: interpreting genotype-phenotype relationships (English)

1 reference

30 July 2017

1 reference

4

Robert A Hegele

0 references

author name string

Piya Lahiry

series ordinal

1

1 reference

30 July 2017

Ali Torkamani

series ordinal

2

1 reference

30 July 2017

Nicholas J Schork

series ordinal

3

1 reference

30 July 2017

publication date

1 January 2010

1 reference

30 July 2017

published in

Nature Reviews Genetics

1 reference

30 July 2017

volume

11

1 reference

30 July 2017

issue

1

1 reference

30 July 2017

page(s)

60-74

1 reference

https://scigraph.springernature.com/pub.10.1038/nrg2707

30 July 2017

exact match

0 references

cites work

Genetics of complex disease: approaches, problems, and solutions

1 reference

Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders

21 January 2018

1 reference

Protein serine/threonine kinases

21 January 2018

1 reference

AIP1: a new player in TNF signaling

21 January 2018

1 reference

WNK1 activates ERK5 by an MEKK2/3-dependent mechanism

21 January 2018

1 reference

The protein kinase complement of the human genome

21 January 2018

1 reference

On target with a new mechanism for the regulation of protein phosphorylation

31 March 2020

1 reference

31 March 2020

1 reference

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

31 March 2020

1 reference

Evolution of protein kinase signaling from yeast to man

31 March 2020

1 reference

Genome-wide identification of genes likely to be involved in human genetic disease

31 March 2020

1 reference

Phenomics, lipodystrophy, and the metabolic syndrome

31 March 2020

1 reference

Phenomics, lamin A/C, and metabolic disease

31 March 2020

1 reference

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

31 March 2020

1 reference

Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway

31 March 2020

1 reference

Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia

31 March 2020

1 reference

Multiple, distinct forms of bovine and human protein kinase C suggest diversity in cellular signaling pathways

31 March 2020

1 reference

Ca2+/calmodulin-dependent protein kinase II in postsynaptic densities after reversible cerebral ischemia in rats.

31 March 2020

1 reference

Interplay between the gamma isoform of PKC and calcineurin in regulation of vulnerability to focal cerebral ischemia

31 March 2020

1 reference

Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis.

31 March 2020

1 reference

Roles of FGF signaling in skeletal development and human genetic diseases

31 March 2020

1 reference

A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva

31 March 2020

1 reference

BMP type I receptor inhibition reduces heterotopic [corrected] ossification

31 March 2020

1 reference

Patterns of somatic mutation in human cancer genomes

31 March 2020

1 reference

The BCR gene encodes a novel serine/threonine kinase activity within a single exon

31 March 2020

1 reference

Clinical resistance to STI-571 cancer therapy caused by BCR-ABL gene mutation or amplification

31 March 2020

1 reference

The t(8;22) in chronic myeloid leukemia fuses BCR to FGFR1: transforming activity and specific inhibition of FGFR1 fusion proteins

31 March 2020

1 reference

A TEL-JAK2 fusion protein with constitutive kinase activity in human leukemia

31 March 2020

1 reference

The t(8;9)(p22;p24) is a recurrent abnormality in chronic and acute leukemia that fuses PCM1 to JAK2

31 March 2020

1 reference

JAK2 germline genetic variation affects disease susceptibility in primary myelofibrosis regardless of V617F mutational status: nullizygosity for the JAK2 46/1 haplotype is associated with inferior survival.

31 March 2020

1 reference

BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension

31 March 2020

1 reference

Bone morphogenetic protein receptor type II C-terminus interacts with c-Src: implication for a role in pulmonary arterial hypertension

31 March 2020

1 reference

BMP type II receptor is required for gastrulation and early development of mouse embryos

31 March 2020

1 reference

Molecular diagnosis of X-linked agammaglobulinaemia

31 March 2020

1 reference

Binding of Bruton's tyrosine kinase to Fyn, Lyn, or Hck through a Src homology 3 domain-mediated interaction

31 March 2020

1 reference

Colocalization of X-linked agammaglobulinemia and X-linked immunodeficiency genes

31 March 2020

1 reference

A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)

31 March 2020

1 reference

Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism

31 March 2020

1 reference

A family with severe insulin resistance and diabetes due to a mutation in AKT2.

31 March 2020

1 reference

Insulin resistance and a diabetes mellitus-like syndrome in mice lacking the protein kinase Akt2 (PKB beta)

31 March 2020

1 reference

Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex.

31 March 2020

1 reference

Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome

31 March 2020

1 reference

A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems.

31 March 2020

1 reference

A census of human cancer genes

31 March 2020

1 reference

The Catalogue of Somatic Mutations in Cancer (COSMIC)

31 March 2020

1 reference

Mutation analysis of the CHK2 gene in breast carcinoma and other cancers

31 March 2020

1 reference

Identification of ALK as a major familial neuroblastoma predisposition gene

31 March 2020

1 reference

Oncogenic mutations of ALK kinase in neuroblastoma

31 March 2020

1 reference

Activating mutations in ALK provide a therapeutic target in neuroblastoma

31 March 2020

1 reference

Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma

31 March 2020

1 reference

FLT3 and its Role in the Pathogenesis of Acute Myeloid Leukaemia

31 March 2020

1 reference

Self-renewal of primitive human hematopoietic cells (long-term-culture-initiating cells) in vitro and their expansion in defined medium

31 March 2020

1 reference

Ror2, a developmentally regulated kinase, promotes tumor growth potential in renal cell carcinoma

31 March 2020

1 reference

Mouse Ror2 receptor tyrosine kinase is required for the heart development and limb formation

31 March 2020

1 reference

LMNA mutation position predicts organ system involvement in laminopathies

31 March 2020

1 reference

Current concepts in RET-related genetics, signaling and therapeutics

31 March 2020

1 reference

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

31 March 2020

1 reference

Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests

31 March 2020

1 reference

Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas

31 March 2020

1 reference

RET tyrosine kinase signaling in development and cancer

31 March 2020

1 reference

Renal aplasia in humans is associated with RET mutations

31 March 2020

1 reference

Mutations of the RET-GDNF signaling pathway in Ondine's curse

31 March 2020

1 reference

BRAF mutation predicts sensitivity to MEK inhibition

31 March 2020

1 reference

Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF

31 March 2020

1 reference

Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome

31 March 2020

1 reference

Endothelial apoptosis in Braf-deficient mice

31 March 2020

1 reference

Regulation of neuronal survival by the serine-threonine protein kinase Akt

31 March 2020

1 reference

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

31 March 2020

1 reference

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome

31 March 2020

1 reference

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes

31 March 2020

1 reference

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

31 March 2020

1 reference

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

31 March 2020

1 reference

Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations.

31 March 2020

1 reference

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

31 March 2020

1 reference

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

31 March 2020

1 reference

Craniosynostosis: genes and mechanisms

31 March 2020

1 reference

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

31 March 2020

1 reference

Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease

31 March 2020

1 reference

What's new in the neuro-cardio-facial-cutaneous syndromes?

31 March 2020

1 reference

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

31 March 2020

1 reference

The MAPK signaling cascade

31 March 2020

1 reference

Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans

31 March 2020

1 reference

Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation

31 March 2020

1 reference

Congenital disease SNPs target lineage specific structural elements in protein kinases

31 March 2020

1 reference

Cancer driver mutations in protein kinase genes

31 March 2020

1 reference

Computational modeling of structurally conserved cancer mutations in the RET and MET kinases: the impact on protein structure, dynamics, and stability.

31 March 2020

1 reference

The second wave in kinase cancer drugs

31 March 2020

1 reference

Prediction of cancer driver mutations in protein kinases

31 March 2020

1 reference

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

31 March 2020

1 reference

Structural and functional diversity of the microbial kinome

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

The amino-acid mutational spectrum of human genetic disease

31 March 2020

1 reference

Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions

31 March 2020

1 reference

The GCKR rs780094 polymorphism is associated with elevated fasting serum triacylglycerol, reduced fasting and OGTT-related insulinaemia, and reduced risk of type 2 diabetes

31 March 2020

1 reference

Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci

31 March 2020

1 reference

Genome-wide association study identifies novel breast cancer susceptibility loci

31 March 2020

1 reference

Analysis of 10 independent samples provides evidence for association between schizophrenia and a SNP flanking fibroblast growth factor receptor 2.

31 March 2020

1 reference

Variant between CPT1B and CHKB associated with susceptibility to narcolepsy

31 March 2020

1 reference

From the Cover: Whole-genome association study identifies STK39 as a hypertension susceptibility gene.

31 March 2020

1 reference

Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.

31 March 2020

1 reference

A common allele on chromosome 9 associated with coronary heart disease

31 March 2020

1 reference

Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes

31 March 2020

1 reference

Regulation and targets of receptor tyrosine kinases

31 March 2020

1 reference

MAPK regulation of gene expression in airway smooth muscle

31 March 2020

1 reference

Mitogen-activated protein kinase pathways mediated by ERK, JNK, and p38 protein kinases

31 March 2020

1 reference

Principles of interleukin (IL)-6-type cytokine signalling and its regulation

31 March 2020

1 reference

A C-terminal protein-binding domain in the retinoblastoma protein regulates nuclear c-Abl tyrosine kinase in the cell cycle

31 March 2020

1 reference

Frequent alterations in the expression of serine/threonine kinases in human cancers

31 March 2020

1 reference

Dissociating the dual roles of apoptosis-inducing factor in maintaining mitochondrial structure and apoptosis

31 March 2020

1 reference

Scythe regulates apoptosis-inducing factor stability during endoplasmic reticulum stress-induced apoptosis

31 March 2020

1 reference

Identification of yin-yang regulators and a phosphorylation consensus for male germ cell-associated kinase (MAK)-related kinase

31 March 2020

1 reference

Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis

31 March 2020

1 reference

12 December 2020

Overexpression of a dominant negative type II bone morphogenetic protein receptor inhibits the growth of human breast cancer cells.

1 reference

12 December 2020

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

1 reference

12 December 2020

Severe liver degeneration and lack of NF-kappaB activation in NEMO/IKKgamma-deficient mice

1 reference

12 December 2020

Fusion of TEL, the ETS-variant gene 6 (ETV6), to the receptor-associated kinase JAK2 as a result of t(9;12) in a lymphoid and t(9;15;12) in a myeloid leukemia

1 reference

12 December 2020

The nuclear serine/threonine protein kinase DNA-PK

1 reference

12 December 2020

The eukaryotic protein kinase superfamily: kinase (catalytic) domain structure and classification 1

1 reference

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/NRG2707

1 reference

Dimensions Publication ID

30 July 2017

1014018771

0 references

1 reference