(Q37343475)

19 August 2017

1 reference

title

Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway (English)

1 reference

19 August 2017

William E Tidyman

1

1 reference

19 August 2017

Katherine A Rauen

series ordinal

2

1 reference

19 August 2017

language of work or name

1 reference

9 December 2008

1 reference

Expert Reviews in Molecular Medicine

19 August 2017

published in

1 reference

19 August 2017

volume

10

1 reference

19 August 2017

page(s)

e37

1 reference

New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome

19 August 2017

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1 reference

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Is the locus for Costello syndrome on 11p?

21 January 2018

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Altered expression and molecular abnormalities of cell-cycle-regulatory proteins in rhabdomyosarcoma

21 January 2018

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Tumorigenic conversion of primary embryo fibroblasts requires at least two cooperating oncogenes

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Fibroblast immortality is a prerequisite for transformation by EJ c-Ha-ras oncogene

21 January 2018

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Analysis of the transforming potential of the human H-ras gene by random mutagenesis

21 January 2018

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Biological properties of human c-Ha-ras1 genes mutated at codon 12.

21 January 2018

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The product of ras is a GTPase and the T24 oncogenic mutant is deficient in this activity.

21 January 2018

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Comparative biochemical properties of normal and activated human ras p21 protein

21 January 2018

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Intrinsic GTPase activity distinguishes normal and oncogenic ras p21 molecules

21 January 2018

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Somatic mosaicism for an HRAS mutation causes Costello syndrome.

21 January 2018

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Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation

21 January 2018

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Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

21 January 2018

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Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation

21 January 2018

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Severe neonatal manifestations of Costello syndrome

21 January 2018

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Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

21 January 2018

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HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

21 January 2018

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Germline mutations in HRAS proto-oncogene cause Costello syndrome

21 January 2018

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Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol

21 January 2018

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Clinical relevance of molecular diagnosis in childhood rhabdomyosarcoma

21 January 2018

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Tumor predisposition in Costello syndrome

21 January 2018

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Behavioral and temperamental features of children with Costello syndrome.

21 January 2018

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Further delineation of the behavioral and neurologic features in Costello syndrome.

21 January 2018

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HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

21 January 2018

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Costello syndrome and neurological abnormalities

21 January 2018

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

21 January 2018

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Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome

21 January 2018

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Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation.

21 January 2018

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Functional analysis of leukemia-associated PTPN11 mutations in primary hematopoietic cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Isolation of a distinct class of gain-of-function SHP-2 mutants with oncogenic RAS-like transforming activity from solid tumors

21 January 2018

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Longitudinal assessment of cognitive characteristics in Costello syndrome.

21 January 2018

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Further delineation of cardiac abnormalities in Costello syndrome

21 January 2018

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https://api.crossref.org/works/10.1017%2FS1462399408000902

Costello syndrome: orthopaedic manifestations and functional health

21 January 2018

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HRAS and the Costello syndrome

21 January 2018

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https://api.crossref.org/works/10.1017%2FS1462399408000902

Costello syndrome: an overview

21 January 2018

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https://api.crossref.org/works/10.1017%2FS1462399408000902

Mutations of C-RAF are rare in human cancer because C-RAF has a low basal kinase activity compared with B-RAF

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

SOS1 mutations are rare in human malignancies: implications for Noonan Syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Biochemical and functional characterization of germ line KRAS mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia

21 January 2018

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Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia

21 January 2018

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The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease

21 January 2018

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Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes

21 January 2018

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https://api.crossref.org/works/10.1017%2FS1462399408000902

Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia

21 January 2018

1 reference

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Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation

21 January 2018

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Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease

21 January 2018

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https://api.crossref.org/works/10.1017%2FS1462399408000902

Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes

21 January 2018

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https://api.crossref.org/works/10.1017%2FS1462399408000902

Crystal structure of the tyrosine phosphatase SHP-2

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Germline KRAS mutations cause Noonan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Germline gain-of-function mutations in RAF1 cause Noonan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Germline gain-of-function mutations in SOS1 cause Noonan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Rhabdomyosarcoma in a patient with Noonan syndrome phenotype and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Occurrence of myeloproliferative disorder in patients with Noonan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Juvenile myelomonocytic leukemia and Noonan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

BRAF mutation predicts sensitivity to MEK inhibition

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Type 1 Arnold???Chiari malformation and Noonan syndrome. A new diagnostic feature?

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Psychological profile of children with Noonan syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Discovery of a selective inhibitor of oncogenic B-Raf kinase with potent antimelanoma activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Advances in the development of cancer therapeutics directed against the RAS-mitogen-activated protein kinase pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Targeting the mitogen-activated protein kinase cascade to treat cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Mek1/2 MAPK kinases are essential for Mammalian development, homeostasis, and Raf-induced hyperplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

The natural history of Noonan syndrome: a long-term follow-up study

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Mek2 is dispensable for mouse growth and development

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Embryonic death of Mek1-deficient mice reveals a role for this kinase in angiogenesis in the labyrinthine region of the placenta

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Hypertelorism With Turner Phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio-facio-cutaneous and Costello syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Essential role of B-Raf in ERK activation during extraembryonic development

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Overlapping and specific functions of Braf and Craf-1 proto-oncogenes during mouse embryogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Mediating ERK 1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Spatial and temporal patterns of ERK signaling during mouse embryogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Fgf signalling controls the dorsoventral patterning of the zebrafish embryo

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Activation mechanism and function of the MAP kinase cascade

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

A hypermutation phenotype and somatic MSH6 mutations in recurrent human malignant gliomas after alkylator chemotherapy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Constitutive activation of the 41-/43-kDa mitogen-activated protein kinase signaling pathway in human tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Hyperexpression of mitogen-activated protein kinase in human breast cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Activation of MAP kinase kinase is necessary and sufficient for PC12 differentiation and for transformation of NIH 3T3 cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Identification and characterization of a new mammalian mitogen-activated protein kinase kinase, MKK2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Mitogen-activated protein (MAP) kinase pathways: regulation and physiological functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

High frequency of BRAF mutations in nevi

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

RAF/RAS oncogenes and mismatch-repair status

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Mutations of the BRAF gene in human cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Wild-type and mutant B-RAF activate C-RAF through distinct mechanisms involving heterodimerization

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Expression of activated MAP kinase in Xenopus laevis embryos: evaluating the roles of FGF and other signaling pathways in early induction and patterning

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

The RAF proteins take centre stage

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Mitogen-activated protein kinase (MAP kinase) activation in Xenopus oocytes: roles of MPF and protein synthesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Induction of Xenopus oocyte meiotic maturation by MAP kinase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

The extracellular signal-regulated kinase: multiple substrates regulate diverse cellular functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Ras as a target in cancer therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Ras proteins: different signals from different locations

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a patient with a germline mutation in BRAF proto-oncogene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Gastrointestinal and renal abnormalities in cardio-facio-cutaneous syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

The cardio-facio-cutaneous syndrome: a long-term follow-up of two patients, with special reference to the neurological features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Cutaneous manifestations in the cardiofaciocutaneous syndrome, a variant of the classical Noonan syndrome. Report of a case and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Expression of endogenous oncogenic V600EB-raf induces proliferation and developmental defects in mice and transformation of primary fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

The cardio-facio-cutaneous (CFC) syndrome and Noonan syndrome: are they the same?

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Diversity, parental germline origin, and phenotypic spectrum of de novoHRASmissense changes in Costello syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Acute lymphoblastic leukaemia in Noonan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

Transformation of mammalian cells by constitutively active MAP kinase kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

7 January 2021

Spontaneous chylothorax in a case of cardio-facio-cutaneous syndrome

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

7 January 2021

H-ras and K-ras mutations in soft tissue sarcoma: comparative studies of sarcomas from Korean and American patients

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

7 January 2021

Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

7 January 2021

Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

7 January 2021

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

7 January 2021

Growth hormone deficiency in Costello syndrome

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

7 January 2021

"Noonan's syndrome and acute lymphoblastic leukaemia"

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

7 January 2021

Prevalence of priapism in children and adolescents with sickle cell anemia.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

7 January 2021

Noonan syndrome: coagulation and clinical aspects.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399408000902

7 January 2021

10.1017/S1462399408000902

Identifiers

DOI

1 reference

19 August 2017

1 reference