The RASopathies: from pathogenetics to therapeutics

Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status

(2021) Chiara Leoni et al.   Orphanet Journal of Rare Diseases

Ras/ MAPK dysregulation in development causes a skeletal myopathy in an activating Braf L597V mouse model for cardio‐facio‐cutaneous syndrome

(2021) Yoshiko Maeda et al.   DEVELOPMENTAL DYNAMICS

Impaired instrumental learning in Spred1 −/− mice, a model for a rare RASopathy

(2021) Sarah C. Borrie et al.   GENES BRAIN AND BEHAVIOR

When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort

(2021) Alexandra Scott et al.   GENETICS IN MEDICINE

KRAS G12C-mutated advanced non-small cell lung cancer: A real-world cohort from the German prospective, observational, nation-wide CRISP Registry (AIO-TRK-0315)

(2021) Martin Sebastian et al.   LUNG CANCER

ARAF mutations confer resistance to the RAF inhibitor belvarafenib in melanoma

(2021) Ivana Yen et al.   NATURE

Treatment during a developmental window prevents NF1-associated optic pathway gliomas by targeting Erk-dependent migrating glial progenitors

(2021) Emmanuelle S. Jecrois et al.   DEVELOPMENTAL CELL

MEK-inhibitor-mediated rescue of skeletal myopathy caused by activating Hras mutation in a Costello syndrome mouse model

(2021) William E. Tidyman et al.   Disease Models & Mechanisms

MEK inhibition ameliorates social behavior phenotypes in a Spred1 knockout mouse model for RASopathy disorders

(2021) Sarah C. Borrie et al.   Molecular Autism

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype

(2021) Marialetizia Motta et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Advancing RAS/RASopathy therapies: An NCI‐sponsored intramural and extramural collaboration for the study of RASopathies

(2020) Andrea M. Gross et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Noonan Syndrome Gene Lztr1 Controls Cardiovascular Function by Regulating Vesicular Trafficking

(2020) Raj Nayan Sewduth et al.   CIRCULATION RESEARCH

Recent Advances of SHP2 Inhibitors in Cancer Therapy: Current Development and Clinical Application

(2020) Xinrui Yuan et al.   JOURNAL OF MEDICINAL CHEMISTRY

Selumetinib in Children with Inoperable Plexiform Neurofibromas

(2020) Andrea M. Gross et al.   NEW ENGLAND JOURNAL OF MEDICINE

New Model Systems and the Development of Targeted Therapies for the Treatment of Neurofibromatosis Type 1-Associated Malignant Peripheral Nerve Sheath Tumors

(2020) Kyle B. Williams et al.   Genes

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

(2020) Marialetizia Motta et al.   AMERICAN JOURNAL OF HUMAN GENETICS

K-Ras prenylation as a potential anticancer target

(2020) Marcell Baranyi et al.   CANCER AND METASTASIS REVIEWS

Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome-Associated Cardiomyopathy

(2020) Ulrich Hanses et al.   CIRCULATION

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

(2020) Christina Lissewski et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

RAS-targeted therapies: is the undruggable drugged?

(2020) Amanda R. Moore et al.   NATURE REVIEWS DRUG DISCOVERY

Costello syndrome model mice with a HrasG12S/+ mutation are susceptible to develop house dust mite-induced atopic dermatitis

(2020) Yu Katata et al.   Cell Death & Disease

SHP2 mutations induce precocious gliogenesis of Noonan syndrome-derived iPSCs during neural development in vitro

(2020) Younghee Ju et al.   Stem Cell Research & Therapy

Structural Insights into the SPRED1-Neurofibromin-KRAS Complex and Disruption of SPRED1-Neurofibromin Interaction by Oncogenic EGFR

(2020) Wupeng Yan et al.   Cell Reports

The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered

(2020) Julia Brinkmann et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

KRASG12C Inhibition with Sotorasib in Advanced Solid Tumors

(2020) David S. Hong et al.   NEW ENGLAND JOURNAL OF MEDICINE

Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis

(2020) Teresa N. Sparks et al.   NEW ENGLAND JOURNAL OF MEDICINE

Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genes

(2020) Oliver A. Kent et al.   Nature Communications

KrasP34R and KrasT58I mutations induce distinct RASopathy phenotypes in mice

(2020) Jasmine C. Wong et al.   JCI Insight

LXH254, a potent and selective ARAF-sparing inhibitor of BRAF and CRAF for the treatment of MAPK-driven tumors

(2020) Kelli-Ann Monaco et al.   CLINICAL CANCER RESEARCH

New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis

(2019) Shingo Takahara et al.   EBioMedicine

RIT1 oncoproteins escape LZTR1-mediated proteolysis

(2019) Pau Castel et al.   SCIENCE

Discovery of potent SOS1 inhibitors that block RAS activation via disruption of the RAS–SOS1 interaction

(2019) Roman C. Hillig et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

(2019) Yline Capri et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy

(2019) Marialetizia Motta et al.   HUMAN MOLECULAR GENETICS

SPRED2 deficiency elicits cardiac arrhythmias and premature death via impaired autophagy

(2019) Melanie Ullrich et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition

(2019) Gregor Andelfinger et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

The Noonan Syndrome-linked Raf1L613V mutation drives increased glial number in the mouse cortex and enhanced learning

(2019) Michael C. Holter et al.   PLoS Genetics

A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway

(2019) Ivan K. Popov et al.   Frontiers in Physiology

Inducible Pluripotent Stem Cell–Derived Cardiomyocytes Reveal Aberrant Extracellular Regulated Kinase 5 and Mitogen-Activated Protein Kinase Kinase 1/2 Signaling Concomitantly Promote Hypertrophic Cardiomyopathy in RAF1 -Associated Noonan Syndrome

(2019) Fabrice Jaffré et al.   CIRCULATION

ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor

(2019) Dong Li et al.   NATURE MEDICINE

Drugging an undruggable pocket on KRAS

(2019) Dirk Kessler et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer

(2019) Sahar Nissim et al.   NATURE GENETICS

Architecture of autoinhibited and active BRAF–MEK1–14-3-3 complexes

(2019) Eunyoung Park et al.   NATURE

Targeting RAS in pediatric cancer

(2019) Angelina V. Vaseva et al.   CURRENT OPINION IN PEDIATRICS

Noonan syndrome‐associated biallelic LZTR1 mutations cause cardiac hypertrophy and vascular malformations in zebrafish

(2019) Yu Nakagama et al.   Molecular Genetics & Genomic Medicine

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

(2018) Simone Martinelli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mek1 Y130C mice recapitulate aspects of human cardio-facio-cutaneous syndrome

(2018) Rifdat Aoidi et al.   Disease Models & Mechanisms

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

(2018) Jennifer J Johnston et al.   GENETICS IN MEDICINE

Chronic treatment with a MEK inhibitor reverses enhanced excitatory field potentials in Syngap1 +/− mice

(2018) Maksym V. Kopanitsa et al.   Pharmacological Reports

Molecular recognition of RAS/RAF complex at the membrane: Role of RAF cysteine-rich domain

(2018) Timothy Travers et al.   Scientific Reports

Ras-Mediated Activation of the Raf Family Kinases

(2018) Elizabeth M. Terrell et al.   Cold Spring Harbor Perspectives in Medicine

Mice with an Oncogenic HRAS Mutation are Resistant to High-Fat Diet-Induced Obesity and Exhibit Impaired Hepatic Energy Homeostasis

(2018) Daiju Oba et al.   EBioMedicine

Intrinsically active MEK variants are differentially regulated by proteinases and phosphatases

(2018) Merav Ordan et al.   Scientific Reports

Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the kelch domain substrate-recognition surface and enhance RAS-MAPK signaling

(2018) Marialetizia Motta et al.   HUMAN MOLECULAR GENETICS

PTPN11 Plays Oncogenic Roles and Is a Therapeutic Target for BRAF Wild-Type Melanomas

(2018) Kristen S. Hill et al.   MOLECULAR CANCER RESEARCH

SHOC2–MRAS–PP1 complex positively regulates RAF activity and contributes to Noonan syndrome pathogenesis

(2018) Lucy C. Young et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination

(2018) M. Steklov et al.   SCIENCE

LZTR1 is a regulator of RAS ubiquitination and signaling

(2018) Johannes W. Bigenzahn et al.   SCIENCE

Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum

(2017) Francesca Pantaleoni et al.   HUMAN MUTATION

BRAF-inhibitor Associated MEK Mutations Increase RAF-Dependent and -Independent Enzymatic Activity

(2017) Caroline M. Emery et al.   MOLECULAR CANCER RESEARCH

OCD-like behavior is caused by dysfunction of thalamo-amygdala circuits and upregulated TrkB/ERK-MAPK signaling as a result of SPRED2 deficiency

(2017) M Ullrich et al.   MOLECULAR PSYCHIATRY

Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium

(2017) Terrence F Meehan et al.   NATURE GENETICS

In vivo efficacy of the AKT inhibitor ARQ 092 in Noonan Syndrome with multiple lentigines-associated hypertrophic cardiomyopathy

(2017) Jianxun Wang et al.   PLoS One

In vivo severity ranking of Ras pathway mutations associated with developmental disorders

(2017) Granton A. Jindal et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Targeting KRAS-dependent tumors with AZD4785, a high-affinity therapeutic antisense oligonucleotide inhibitor of KRAS

(2017) Sarah J. Ross et al.   Science Translational Medicine

First-in-Class ERK1/2 Inhibitor Ulixertinib (BVD-523) in Patients with MAPK Mutant Advanced Solid Tumors: Results of a Phase I Dose-Escalation and Expansion Study

(2017) Ryan J. Sullivan et al.   Cancer Discovery

Mutation-Specific Mechanisms of Hyperactivation of Noonan Syndrome SOS Molecules Detected with Single-molecule Imaging in Living Cells

(2017) Yuki Nakamura et al.   Scientific Reports

Mechanisms underlying cognitive deficits in a mouse model for Costello Syndrome are distinct from other RASopathy mouse models

(2017) Jadwiga Schreiber et al.   Scientific Reports

Pathogenetics of the RASopathies

(2016) William E. Tidyman et al.   HUMAN MOLECULAR GENETICS

Human iPS Cell-Derived Neurons Uncover the Impact of Increased Ras Signaling in Costello Syndrome

(2016) G. E. Rooney et al.   JOURNAL OF NEUROSCIENCE

K-RasV14I -induced Noonan syndrome predisposes to tumour development in mice

(2016) Isabel Hernández-Porras et al.   JOURNAL OF PATHOLOGY

Understanding Growth Failure in Costello Syndrome: Increased Resting Energy Expenditure

(2016) Chiara Leoni et al.   JOURNAL OF PEDIATRICS

Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities

(2016) Brigitte Gilbert-Dussardier et al.   Orphanet Journal of Rare Diseases

The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer

(2016) Anne-Mette Hartung et al.   PLoS Genetics

Autonomous and Non-autonomous Defects Underlie Hypertrophic Cardiomyopathy in BRAF-Mutant hiPSC-Derived Cardiomyocytes

(2016) Rebecca Josowitz et al.   Stem Cell Reports

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

(2015) Andreas Hahn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

De novo, heterozygous, loss-of-function mutations inSYNGAP1cause a syndromic form of intellectual disability

(2015) Michael J. Parker et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Inhibition of RAF Isoforms and Active Dimers by LY3009120 Leads to Anti-tumor Activities in RAS or BRAF Mutant Cancers

(2015) Sheng-Bin Peng et al.   CANCER CELL

Targeting RAS Membrane Association: Back to the Future for Anti-RAS Drug Discovery?

(2015) A. D. Cox et al.   CLINICAL CANCER RESEARCH

RASopathies: unraveling mechanisms with animal models

(2015) Granton A. Jindal et al.   Disease Models & Mechanisms

Adult mice expressing aBrafQ241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype

(2015) Mitsuji Moriya et al.   HUMAN MOLECULAR GENETICS

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

(2015) Viviana Cordeddu et al.   HUMAN MUTATION

Rare variants inSOS2andLZTR1are associated with Noonan syndrome

(2015) Guilherme Lopes Yamamoto et al.   JOURNAL OF MEDICAL GENETICS

Preclinical assessments of the MEK inhibitor PD-0325901 in a mouse model of neurofibromatosis type 1

(2015) Edwin Jousma et al.   PEDIATRIC BLOOD & CANCER

Craniofacial and dental development in Costello syndrome

(2014) Alice F. Goodwin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Further evidence of the importance ofRIT1in Noonan syndrome

(2014) Débora R. Bertola et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Blood Vascular Abnormalities in Rasa1R780Q Knockin Mice

(2014) Beth A. Lubeck et al.   AMERICAN JOURNAL OF PATHOLOGY

Molecular Basis of Gain-of-Function LEOPARD Syndrome-Associated SHP2 Mutations

(2014) Zhi-Hong Yu et al.   BIOCHEMISTRY

Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish

(2014) Monica Bonetti et al.   DEVELOPMENT

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

(2014) Shin-ichi Inoue et al.   HUMAN MOLECULAR GENETICS

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

(2014) E. Flex et al.   HUMAN MOLECULAR GENETICS

Oncogenic and sorafenib-sensitive ARAF mutations in lung adenocarcinoma

(2014) Marcin Imielinski et al.   JOURNAL OF CLINICAL INVESTIGATION

RASA1 functions in EPHB4 signaling pathway to suppress endothelial mTORC1 activity

(2014) Jun Kawasaki et al.   JOURNAL OF CLINICAL INVESTIGATION

Mechanism and treatment for learning and memory deficits in mouse models of Noonan syndrome

(2014) Yong-Seok Lee et al.   NATURE NEUROSCIENCE

Early-Lethal Costello Syndrome Due to Rare HRAS Tandem Base Substitution (c.35_36GC>AA; p.G12E)–Associated Pulmonary Vascular Disease

(2014) K. Nicole Weaver et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY

Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines

(2014) M. E. M. Pierpont et al.   PEDIATRICS

Next-generation sequencing identifies rare variants associated with Noonan syndrome

(2014) P.-C. Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity

(2014) Mylène Tajan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

K-RasV14Irecapitulates Noonan syndrome in mice

(2014) Isabel Hernández-Porras et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

The RASopathies

(2013) Katherine A. Rauen   Annual Review of Genomics and Human Genetics

Effects of Raf Dimerization and Its Inhibition on Normal and Disease-Associated Raf Signaling

(2013) Alyson K. Freeman et al.   MOLECULAR CELL

Ptpn11 deletion in a novel progenitor causes metachondromatosis by inducing hedgehog signalling

(2013) Wentian Yang et al.   NATURE

The integrated landscape of driver genomic alterations in glioblastoma

(2013) Veronique Frattini et al.   NATURE GENETICS

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

(2013) Arkadiusz Piotrowski et al.   NATURE GENETICS

Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline

(2013) E. Giannoulatou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Lymphatic vessel abnormalities arising from disorders of Ras signal transduction

(2013) Eva M. Sevick-Muraca et al.   TRENDS IN CARDIOVASCULAR MEDICINE

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

Mosaic RASopathies

(2012) Christian Hafner et al.   CELL CYCLE

A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1

(2012) I. B. Stowe et al.   GENES & DEVELOPMENT

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

TheKAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms

(2012) Philippe M. Campeau et al.   HUMAN MUTATION

Review and update ofSPRED1mutations causing legius syndrome

(2012) Hilde Brems et al.   HUMAN MUTATION

RASA1 maintains the lymphatic vasculature in a quiescent functional state in mice

(2012) Philip E. Lapinski et al.   JOURNAL OF CLINICAL INVESTIGATION

Increased BRAF Heterodimerization Is the Common Pathogenic Mechanism for Noonan Syndrome-Associated RAF1 Mutants

(2012) X. Wu et al.   MOLECULAR AND CELLULAR BIOLOGY

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

(2011) Angela E. Lin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Neurocognitive, adaptive, and behavioral functioning of individuals with Costello syndrome: A review

(2011) Marni E. Axelrad et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

MEK1/2 dual-specificity protein kinases: Structure and regulation

(2011) Robert Roskoski   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development

(2011) D.H. Siegel et al.   BRITISH JOURNAL OF DERMATOLOGY

Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects

(2011) V. Runtuwene et al.   Disease Models & Mechanisms

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

(2011) Francesca Lepri et al.   HUMAN MUTATION

Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome–like phenotype and hyperactivated MAPK signaling in humans and mice

(2011) Michael Kraft et al.   JOURNAL OF CLINICAL INVESTIGATION

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

An evolutionarily conserved Rit GTPase–p38 MAPK signaling pathway mediates oxidative stress resistance

(2011) Weikang Cai et al.   MOLECULAR BIOLOGY OF THE CELL

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

Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome

(2011) Margot E. Bowen et al.   PLoS Genetics

Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

(2010) Simone Martinelli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: Brain overgrowth associated withHRASmutations as the likely cause of structural brain and spinal cord abnormalities

(2010) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genomic and Biological Characterization of Exon 4 KRAS Mutations in Human Cancer

(2010) M. Janakiraman et al.   CANCER RESEARCH

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

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

Endothelial SUR-8 acts in an ERK-independent pathway during atrioventricular cushion development

(2010) Jing Yi et al.   DEVELOPMENTAL DYNAMICS

Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders

(2010) Lothar Gremer et al.   HUMAN MUTATION

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

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

(2010) B. Perez et al.   JOURNAL OF MEDICAL GENETICS

Impaired Binding of 14-3-3 to C-RAF in Noonan Syndrome Suggests New Approaches in Diseases with Increased Ras Signaling

(2010) M. Molzan et al.   MOLECULAR AND CELLULAR BIOLOGY

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

(2010) Xonia Carvajal-Vergara et al.   NATURE

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

(2010) Charlotte M Niemeyer et al.   NATURE GENETICS

Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines

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

Role of the histone domain in the autoinhibition and activation of the Ras activator Son of Sevenless

(2010) Jodi Gureasko et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Phosphatase SHP2 Regulates the Spacing Effect for Long-Term Memory Induction

(2009) Mario R. Pagani et al.   CELL

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

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

Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors

(2009) C. Anastasaki et al.   HUMAN MOLECULAR GENETICS

Clinical and Mutational Spectrum of Neurofibromatosis Type 1–like Syndrome

(2009) Ludwine Messiaen   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Spred1 Is Required for Synaptic Plasticity and Hippocampus-Dependent Learning

(2009) E. Denayer et al.   JOURNAL OF NEUROSCIENCE

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

Essential function for the GTPase TC21 in homeostatic antigen receptor signaling

(2009) Pilar Delgado et al.   NATURE IMMUNOLOGY

Endogenous expression of HrasG12V induces developmental defects and neoplasms with copy number imbalances of the oncogene

(2009) X. Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Noonan syndrome is associated with enhanced pERK activity, the repression of which can prevent craniofacial malformations

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

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

Expression of H-RASV12 in a zebrafish model of Costello syndrome causes cellular senescence in adult proliferating cells

(2008) C. Santoriello et al.   Disease Models & Mechanisms

Germline expression of H-RasG12Vcauses neurological deficits associated to Costello syndrome

(2008) J. Viosca et al.   GENES BRAIN AND BEHAVIOR

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

(2008) Kimihiko Oishi et al.   HUMAN MOLECULAR GENETICS

Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes

(2008) Simone Martinelli et al.   HUMAN MOLECULAR GENETICS

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations

(2008) Nicole Revencu et al.   HUMAN MUTATION

A mouse model for Costello syndrome reveals an Ang II–mediated hypertensive condition

(2008) Alberto J. Schuhmacher et al.   JOURNAL OF CLINICAL INVESTIGATION

Leopard syndrome

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