New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome. (Q50648148)

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scientific article published on 17 July 2014

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English	New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome.	scientific article published on 17 July 2014

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/25035421

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

1 reference

Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/25035421

author name string

Shin-Ichi Inoue

1

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Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/25035421

Mitsuji Moriya

2

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Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/25035421

Yusuke Watanabe

3

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Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/25035421

Sachiko Miyagawa-Tomita

4

1 reference

Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/25035421

Tetsuya Niihori

5

1 reference

Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/25035421

Daiju Oba

6

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Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/25035421

Masao Ono

7

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Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/25035421

Shigeo Kure

8

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Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/25035421

Toshihiko Ogura

9

1 reference

Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/25035421

Yoichi Matsubara

10

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Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/25035421

Yoko Aoki

11

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Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/25035421

publication date

17 July 2014

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Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/25035421

Human Molecular Genetics

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PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/25035421

23

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Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/25035421

24

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Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/25035421

6553-6566

1 reference

Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/25035421

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU376

21 January 2018

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

1 reference

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21 January 2018

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

1 reference

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21 January 2018

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

1 reference

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RAS oncogenes: the first 30 years.

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

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21 January 2018

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

1 reference

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The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

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Mutations of the BRAF gene in human cancer

1 reference

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The intermediate-activity (L597V)BRAF mutant acts as an epistatic modifier of oncogenic RAS by enhancing signaling through the RAF/MEK/ERK pathway

1 reference

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21 January 2018

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

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

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Endothelial apoptosis in Braf-deficient mice

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21 January 2018

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

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21 January 2018

Constitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndrome

1 reference

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Role of mesodermal FGF8 and FGF10 overlaps in the development of the arterial pole of the heart and pharyngeal arch arteries

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Identification of direct transcriptional targets of (V600E)BRAF/MEK signalling in melanoma

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Endothelial ERK signaling controls lymphatic fate specification

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21 January 2018

Molecular mechanisms of lymphatic vascular development

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21 January 2018

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

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21 January 2018

A selective jumonji H3K27 demethylase inhibitor modulates the proinflammatory macrophage response

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21 January 2018

UTX, a histone H3-lysine 27 demethylase, acts as a critical switch to activate the cardiac developmental program

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21 January 2018

X-linked H3K27me3 demethylase Utx is required for embryonic development in a sex-specific manner

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21 January 2018

De novo mutations in histone-modifying genes in congenital heart disease.

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21 January 2018

Design, synthesis, enzyme-inhibitory activity, and effect on human cancer cells of a novel series of jumonji domain-containing protein 2 histone demethylase inhibitors.

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21 January 2018

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.

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21 January 2018

Prenatal features of Noonan syndrome

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21 January 2018

Noonan syndrome: clinical features, diagnosis, and management guidelines

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21 January 2018

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

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21 January 2018

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

1 reference

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21 January 2018

Polycomb repressive complex 2 regulates normal development of the mouse heart

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21 January 2018

Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome

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21 January 2018

Histone H3 lysine 9 methyltransferases, G9a and GLP are essential for cardiac morphogenesis

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21 January 2018

A mechanism of repression of TGFbeta/ Smad signaling by oncogenic Ras

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The H3K27me3 demethylase JMJD3 contributes to the activation of the INK4A-ARF locus in response to oncogene- and stress-induced senescence

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MEK-ERK pathway regulates EZH2 overexpression in association with aggressive breast cancer subtypes

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Role of ERK1/2 signaling in congenital valve malformations in Noonan syndrome

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

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21 January 2018

Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome.

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Bone resorption in syndromes of the Ras/MAPK pathway

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Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations.

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Lineage-specific cell disruption in living mice by Cre-mediated expression of diphtheria toxin A chain.

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Identifiers

10.1093/HMG/DDU376

1 reference

Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/25035421

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

17 March 2018

http://europepmc.org/abstract/MED/25035421

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