(Q34644154)

3 August 2017

Germline gain-of-function mutations in RAF1 cause Noonan syndrome (English)

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3 August 2017

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Ryunosuke Amo

6

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author name string

M Abdur Razzaque

1

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3 August 2017

Tsutomu Nishizawa

2

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3 August 2017

Yuta Komoike

3

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3 August 2017

Hisato Yagi

4

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3 August 2017

Michiko Furutani

5

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3 August 2017

Mitsuhiro Kamisago

7

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3 August 2017

Kazuo Momma

8

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3 August 2017

Hiroshi Katayama

9

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3 August 2017

Masao Nakagawa

10

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3 August 2017

Yuko Fujiwara

11

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3 August 2017

Masaki Matsushima

12

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3 August 2017

Katsumi Mizuno

13

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3 August 2017

Mika Tokuyama

14

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3 August 2017

Hamao Hirota

15

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3 August 2017

Jun Muneuchi

16

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3 August 2017

Toru Higashinakagawa

17

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3 August 2017

Rumiko Matsuoka

18

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3 August 2017

language of work or name

English

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publication date

1 July 2007

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3 August 2017

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3 August 2017

39

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3 August 2017

1013-1017

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3 August 2017

8

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https://scigraph.springernature.com/pub.10.1038/ng2078

3 August 2017

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cites work

Hypertelorism With Turner Phenotype

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Germline mutations in components of the Ras signaling pathway in Noonan syndrome and related disorders.

21 January 2018

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Mutational activation of c-raf-1 and definition of the minimal transforming sequence

21 January 2018

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Stages of embryonic development of the zebrafish

21 January 2018

1 reference

21 January 2018

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7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Germline KRAS mutations cause Noonan syndrome

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Stops along the RAS pathway in human genetic disease

1 reference

7 January 2021

Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction

1 reference

7 January 2021

Germline mutations in HRAS proto-oncogene cause Costello syndrome

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

MAP kinase kinase kinase, MAP kinase kinase and MAP kinase

1 reference

7 January 2021

Hyperactive Ras in developmental disorders and cancer

1 reference

7 January 2021

Guilty as charged: B-RAF is a human oncogene

1 reference

7 January 2021

Two transforming C-RAF germ-line mutations identified in patients with therapy-related acute myeloid leukemia

1 reference

7 January 2021

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

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7 January 2021

Mutations in conserved regions 1, 2, and 3 of Raf-1 that activate transforming activity

1 reference

7 January 2021

Protein kinase A blocks Raf-1 activity by stimulating 14-3-3 binding and blocking Raf-1 interaction with Ras.

1 reference

7 January 2021

Raf-1 kinase is required for cardiac hypertrophy and cardiomyocyte survival in response to pressure overload

1 reference

7 January 2021

Protein kinase A and protein kinase C synergistically activate the Raf-1 kinase/mitogen-activated protein kinase cascade in neonatal rat cardiomyocytes

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7 January 2021

The MEK1-ERK1/2 signaling pathway promotes compensated cardiac hypertrophy in transgenic mice

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7 January 2021

Zebrafish Polycomb group gene ph2alpha is required for epiboly and tailbud formation acting downstream of FGF signaling

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG2078

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3 August 2017

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