(Q38601758)

4 September 2017

Recent advances in RASopathies (English)

1 reference

4 September 2017

Yoko Aoki

1

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4 September 2017

Tetsuya Niihori

series ordinal

2

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4 September 2017

Shin-ichi Inoue

series ordinal

3

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4 September 2017

Yoichi Matsubara

series ordinal

4

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4 September 2017

8 October 2015

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Journal of Human Genetics

4 September 2017

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4 September 2017

61

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4 September 2017

1

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4 September 2017

33-39

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https://scigraph.springernature.com/pub.10.1038/jhg.2015.114

4 September 2017

0 references

cites work

RAS oncogenes: the first 30 years.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Germline KRAS mutations cause Noonan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

A restricted spectrum of NRAS mutations causes Noonan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Germline mutations in HRAS proto-oncogene cause Costello syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Noonan syndrome: clinical features, diagnosis, and management guidelines

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Noonan syndrome: the changing phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Rit, a non-lipid-modified Ras-related protein, transforms NIH3T3 cells without activating the ERK, JNK, p38 MAPK or PI3K/Akt pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Potent transforming activity of the small GTP-binding protein Rit in NIH 3T3 cells: evidence for a role of a p38gamma-dependent signaling pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Next-generation sequencing identifies rare variants associated with Noonan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Further evidence of the importance of RIT1 in Noonan syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Oncogenic RIT1 mutations in lung adenocarcinoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Comprehensive molecular profiling of lung adenocarcinoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Novel recurrent mutations in the RAS-like GTP-binding gene RIT1 in myeloid malignancies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

The Ras branch of small GTPases: Ras family members don't fall far from the tree

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

A novel protease inhibitor of the alpha2-macroglobulin family expressed in the human epidermis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

The protease inhibitor alpha-2-macroglobulin-like-1 is the p170 antigen recognized by paraneoplastic pemphigus autoantibodies in human

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Binding of alpha2ML1 to the low density lipoprotein receptor-related protein 1 (LRP1) reveals a new role for LRP1 in the human epidermis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Low density lipoprotein receptor-related protein 1 (LRP1) controls endocytosis and c-CBL-mediated ubiquitination of the platelet-derived growth factor receptor beta (PDGFR beta).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

The integrated landscape of driver genomic alterations in glioblastoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Isolation and characterization of a novel gene deleted in DiGeorge syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Cardio-facio-cutaneous syndrome: does genotype predict phenotype?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

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/10.1038%2FJHG.2015.114

Vascular abnormalities in patients with neurofibromatosis syndrome type I: clinical spectrum, management, and results

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Review and update of SPRED1 mutations causing Legius syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Effect of simvastatin on cognitive functioning in children with neurofibromatosis type 1: a randomized controlled trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Phenotypic variability associated with the invariantSHOC2c.4A>G (p.Ser2Gly) missense mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.114

Anti-α-2-macroglobulin-like-1 autoantibodies are detected frequently and may be pathogenic in paraneoplastic pemphigus

21 January 2018

1 reference

12 December 2020

Blood pressure and cardiovascular involvement in children with neurofibromatosis type1

1 reference

12 December 2020

Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1

1 reference

12 December 2020

LEOPARD Syndrome: Clinical Features and Gene Mutations

1 reference

12 December 2020

Induction of neurite extension and survival in pheochromocytoma cells by the Rit GTPase

1 reference

12 December 2020

RIC, a calmodulin-binding Ras-like GTPase

1 reference

12 December 2020

Rin, a neuron-specific and calmodulin-binding small G-protein, and Rit define a novel subfamily of ras proteins

1 reference

12 December 2020

Identifiers

DOI

10.1038/JHG.2015.114

1 reference

4 September 2017

1 reference