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

Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

(2013) Yoko Aoki et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2013) Ellen A Croonen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Endothelial ERK signaling controls lymphatic fate specification

(2013) Yong Deng et al.   JOURNAL OF CLINICAL INVESTIGATION

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

(2013) Masayo Inagawa et al.   MECHANISMS OF DEVELOPMENT

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

(2013) Samir Zaidi et al.   NATURE

Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: Findings from a nationwide epidemiological survey

(2012) Yu Abe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The intermediate-activity L597VBRAF mutant acts as an epistatic modifier of oncogenic RAS by enhancing signaling through the RAF/MEK/ERK pathway

(2012) C. Andreadi et al.   GENES & DEVELOPMENT

A selective jumonji H3K27 demethylase inhibitor modulates the proinflammatory macrophage response

(2012) Laurens Kruidenier et al.   NATURE

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

(2012) G. G. Welstead et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

(2011) Damien Lederer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Polycomb Repressive Complex 2 Regulates Normal Development of the Mouse Heart

(2011) Aibin He et al.   CIRCULATION RESEARCH

UTX, a Histone H3-Lysine 27 Demethylase, Acts as a Critical Switch to Activate the Cardiac Developmental Program

(2011) Seunghee Lee et al.   DEVELOPMENTAL CELL

MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1L613V mutation

(2011) Xue Wu et al.   JOURNAL OF CLINICAL INVESTIGATION

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

(2011) Talita M. Marin et al.   JOURNAL OF CLINICAL INVESTIGATION

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

(2011) S Fujii et al.   ONCOGENE

Aberrant lymphatic development in euploid fetuses with increased nuchal translucency including Noonan syndrome

(2011) Yolanda M. de Mooij et al.   PRENATAL DIAGNOSIS

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

(2011) J. Urosevic et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2010) Elizabeth I. Pierpont et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Bone resorption in syndromes of the Ras/MAPK pathway

(2010) DA Stevenson et al.   CLINICAL GENETICS

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

(2010) Peng-Chieh Chen et al.   JOURNAL OF CLINICAL INVESTIGATION

Design, Synthesis, Enzyme-Inhibitory Activity, and Effect on Human Cancer Cells of a Novel Series of Jumonji Domain-Containing Protein 2 Histone Demethylase Inhibitors

(2010) Shohei Hamada et al.   JOURNAL OF MEDICINAL CHEMISTRY

Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines

(2010) A. A. Romano et al.   PEDIATRICS

Role of Mesodermal FGF8 and FGF10 Overlaps in the Development of the Arterial Pole of the Heart and Pharyngeal Arch Arteries

(2009) Yusuke Watanabe et al.   CIRCULATION RESEARCH

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

(2009) William E Tidyman et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

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

(2009) K. Agger et al.   GENES & DEVELOPMENT

GermlineBRAFmutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum

(2009) Anna Sarkozy et al.   HUMAN MUTATION

Identification of direct transcriptional targets ofV600EBRAF/MEK signalling in melanoma

(2009) Leisl M Packer et al.   Pigment Cell & Melanoma Research

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

(2008) Yoko Aoki et al.   HUMAN MUTATION

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

(2008) M. Krenz et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The cardiofaciocutaneous syndrome: prenatal findings in two patients

(2007) I. Witters et al.   PRENATAL DIAGNOSIS