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

The face of Noonan syndrome: Does phenotype predict genotype

(2010) Judith E. Allanson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Phosphatase-Dependent and -Independent Functions of Shp2 in Neural Crest Cells Underlie LEOPARD Syndrome Pathogenesis

(2010) Rodney A. Stewart et al.   DEVELOPMENTAL CELL

Altered Glucose Homeostasis in Mice with Liver-specific Deletion of Src Homology Phosphatase 2

(2010) Kosuke Matsuo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Rapamycin Ameliorates PKD Resulting from Conditional Inactivation of Pkd1

(2010) J. M. Shillingford et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Functional Effects of PTPN11 (SHP2) Mutations Causing LEOPARD Syndrome on Epidermal Growth Factor-Induced Phosphoinositide 3-Kinase/AKT/Glycogen Synthase Kinase 3  Signaling

(2010) T. Edouard et al.   MOLECULAR AND CELLULAR BIOLOGY

A nonsynonymous polymorphism in IL23R gene is associated with risk of gastric cancer in a Chinese population

(2010) Jianjian Chen et al.   MOLECULAR CARCINOGENESIS

Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome

(2010) Xonia Carvajal-Vergara et al.   NATURE

Cardiac remodelling: concentric versus eccentric hypertrophy in strength and endurance athletes

(2010) C. Mihl et al.   Netherlands Heart Journal

Cardiac Fibroblasts Regulate Myocardial Proliferation through β1 Integrin Signaling

(2009) Masaki Ieda et al.   DEVELOPMENTAL CELL

Genetic and Pathogenetic Aspects of Noonan Syndrome and Related Disorders

(2009) Martin Zenker   HORMONE RESEARCH

Mammalian Target of Rapamycin Is a Critical Regulator of Cardiac Hypertrophy in Spontaneously Hypertensive Rats

(2009) Will Soesanto et al.   HYPERTENSION

Cardiac fibroblasts are essential for the adaptive response of the murine heart to pressure overload

(2009) Norifumi Takeda et al.   JOURNAL OF CLINICAL INVESTIGATION

The Role of the Mammalian Target Of Rapamycin (mTOR) in Renal Disease

(2009) W. Lieberthal et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

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

(2009) Viviana Cordeddu et al.   NATURE GENETICS

A restricted spectrum of NRAS mutations causes Noonan syndrome

(2009) Ion C Cirstea et al.   NATURE GENETICS

Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation

(2009) T. Araki et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Evaluating Temsirolimus Activity in Multiple Tumors: A Review of Clinical Trials

(2009) Janet E. Dancey et al.   SEMINARS IN ONCOLOGY

Mammalian Target of Rapamycin and Autosomal Dominant Polycystic Kidney Disease

(2009) R.P. Wüthrich et al.   TRANSPLANTATION PROCEEDINGS

Rapamycin weekly maintenance dosing and the potential efficacy of combination sorafenib plus rapamycin but not atorvastatin or doxycycline in tuberous sclerosis preclinical models

(2009) Nancy Lee et al.   BMC Pharmacology & Toxicology

The tyrosine phosphatase Shp2 (PTPN11) in cancer

(2008) Gordon Chan et al.   CANCER AND METASTASIS REVIEWS

Deletion of Ptpn11 (Shp2) in Cardiomyocytes Causes Dilated Cardiomyopathy via Effects on the Extracellular Signal–Regulated Kinase/Mitogen-Activated Protein Kinase and RhoA Signaling Pathways

(2008) Maria I. Kontaridis et al.   CIRCULATION

Shp2 Negatively Regulates Growth in Cardiomyocytes by Controlling Focal Adhesion Kinase/Src and mTOR Pathways

(2008) Talita M. Marin et al.   CIRCULATION RESEARCH

Noonan, Costello and cardio–facio–cutaneous syndromes: dysregulation of the Ras–MAPK pathway

(2008) William E. Tidyman et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development

(2008) Kimihiko Oishi et al.   HUMAN MOLECULAR GENETICS

Cardiac Restricted Overexpression of Kinase-dead Mammalian Target of Rapamycin (mTOR) Mutant Impairs the mTOR-mediated Signaling and Cardiac Function

(2008) Wei-Hua Shen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Hypertrophic cardiomyopathy: current understanding and treatment objectives

(2008) G S Soor et al.   JOURNAL OF CLINICAL PATHOLOGY

The mTOR pathway and its role in human genetic diseases

(2008) M ROSNER et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

MicroRNA-21 contributes to myocardial disease by stimulating MAP kinase signalling in fibroblasts

(2008) Thomas Thum et al.   NATURE

Leopard syndrome

(2008) Anna Sarkozy et al.   Orphanet Journal of Rare Diseases

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