RTK mutations and human syndromeswhen good receptors turn bad. (Q33927296)

30 July 2017

1 reference

title

RTK mutations and human syndromeswhen good receptors turn bad. (English)

1 reference

30 July 2017

Robertson SC

1

1 reference

PubMed ID

10827454

30 July 2017

Tynan JA

series ordinal

2

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PubMed ID

10827454

30 July 2017

Donoghue DJ

series ordinal

3

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30 July 2017

1 June 2000

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30 July 2017

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30 July 2017

16

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30 July 2017

6

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30 July 2017

265-271

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Signalling by receptor tyrosine kinases

30 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Receptor protein-tyrosine kinases and their signal transduction pathways

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https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

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

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7 January 2021

Dimerization of cell surface receptors in signal transduction

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7 January 2021

Structural and Functional Diversity in the FGf Receptor Multigene Family

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7 January 2021

The Trk family of neurotrophin receptors

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7 January 2021

Neurotrophin signal transduction by the Trk receptor

1 reference

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7 January 2021

Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Oncogenic activation of the neu-encoded receptor protein by point mutation and deletion

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Neu receptor dimerization

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

The protein kinase family: conserved features and deduced phylogeny of the catalytic domains

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Crystal structure of the tyrosine kinase domain of the human insulin receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Structure of the FGF receptor tyrosine kinase domain reveals a novel autoinhibitory mechanism

1 reference

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7 January 2021

Crystal structure of the kinase domain of human vascular endothelial growth factor receptor 2: a key enzyme in angiogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Crystal structure of the phosphotyrosine recognition domain SH2 of v-src complexed with tyrosine-phosphorylated peptides

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Binding of a high affinity phosphotyrosyl peptide to the Src SH2 domain: crystal structures of the complexed and peptide-free forms

1 reference

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7 January 2021

Structure of the IRS-1 PTB domain bound to the juxtamembrane region of the insulin receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Modular binding domains in signal transduction proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

From Src Homology domains to other signaling modules: proposal of the 'protein recognition code'.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Protein modules and signalling networks

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Phospholipase C-gamma 1 and phosphatidylinositol 3 kinase are the downstream mediators of the PDGF receptor's mitogenic signal

1 reference

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7 January 2021

FGFR activation in skeletal disorders: too much of a good thing

1 reference

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7 January 2021

Fibroblast growth factor receptors (FGFRs) and their roles in limb development

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Profound ligand-independent kinase activation of fibroblast growth factor receptor 3 by the activation loop mutation responsible for a lethal skeletal dysplasia, thanatophoric dysplasia type II

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Frequent translocation t(4;14)(p16.3;q32.3) in multiple myeloma is associated with increased expression and activating mutations of fibroblast growth factor receptor 3

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Seminars in medicine of the Beth Israel Hospital, Boston. The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

GDNF family neurotrophic factor signaling: four masters, one servant?

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

RET in human development and oncogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

RET proto-oncogene in the development of human cancer

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Mutations of theRET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Dual effect on the RET receptor of MEN 2 mutations affecting specific extracytoplasmic cysteines

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Catalytic specificity of protein-tyrosine kinases is critical for selective signalling

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Mechanism of ret dysfunction by Hirschsprung mutations affecting its extracellular domain

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Loss of function effect of RET mutations causing Hirschsprung disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Co-segregation of MEN2 and Hirschsprung's disease: the same mutation of RET with both gain and loss-of-function?

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Developmental roles of HGF/SF and its receptor, the c-Met tyrosine kinase

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Novel mutation in the ATP-binding site of the MET oncogene tyrosine kinase in a HPRCC family

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Trisomy 7-harbouring non-random duplication of the mutant MET allele in hereditary papillary renal carcinomas

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Distinct roles of the receptor tyrosine kinases Tie-1 and Tie-2 in blood vessel formation

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Mutations of c-kit JM domain are found in a minority of human gastrointestinal stromal tumors

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Familial gastrointestinal stromal tumours with germline mutation of the KIT gene

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Mutations in the ligand-binding domain of the kit receptor: an uncommon site in human piebaldism

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Human piebaldism: relationship between phenotype and site of kit gene mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Insulin signalling: metabolic pathways and mechanisms for specificity

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Genetics of non-insulin-dependent (type-II) diabetes mellitus

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Two aberrant splicings caused by mutations in the insulin receptor gene in cultured lymphocytes from a patient with Rabson-Mendenhall's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Hereditary lymphedema: evidence for linkage and genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

A specific inhibitor of the epidermal growth factor receptor tyrosine kinase

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902021-7

7 January 2021

10.1016/S0168-9525(00)02021-7

Identifiers

DOI

1 reference

30 July 2017

1 reference

PubMed ID

10827454