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

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

(2021) Francesca Clementina Radio et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

(2021) Eric Legius et al.   GENETICS IN MEDICINE

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

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

ERK signaling dynamics in the morphogenesis and homeostasis of Drosophila

(2020) Shigeo Hayashi et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

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

(2020) Wupeng Yan et al.   Cell Reports

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

(2020) Yuh-Charn Lin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Delineation of dominant and recessive forms of LZTR1 -associated Noonan syndrome

(2019) Alistair T. Pagnamenta et al.   CLINICAL GENETICS

The Sprouty/Spred family as tumor suppressors: Coming of age

(2019) Tetsuro Kawazoe et al.   CANCER SCIENCE

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

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

Germline-Activating RRAS2 Mutations Cause Noonan Syndrome

(2019) Tetsuya Niihori 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

The impact of nonsense-mediated mRNA decay on genetic disease, gene editing and cancer immunotherapy

(2019) Rik G. H. Lindeboom et al.   NATURE GENETICS

Concomitant deletion of HRAS and NRAS leads to pulmonary immaturity, respiratory failure and neonatal death in mice

(2019) Rocío Fuentes-Mateos et al.   Cell Death & Disease

The Rasopathy family: Consequences of germline activation of the RAS/MAPK pathway

(2018) Mylène Tajan et al.   ENDOCRINE REVIEWS

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

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

SWISS-MODEL: homology modelling of protein structures and complexes

(2018) Andrew Waterhouse et al.   NUCLEIC ACIDS RESEARCH

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes

(2018) Geoffrey J. Maher et al.   GENOME RESEARCH

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

Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework

(2018) Andrew R. Grant et al.   HUMAN MUTATION

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

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

SHOC2 subcellular shuttling requires the KEKE motif-rich region andN-terminal leucine-rich repeat domain and impacts on ERK signalling

(2016) Marialetizia Motta et al.   HUMAN MOLECULAR GENETICS

Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1

(2015) Yasuko Hirata et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Recent advances in RASopathies

(2015) Yoko Aoki et al.   JOURNAL OF HUMAN GENETICS

Rare variants inSOS2andLZTR1are associated with Noonan syndrome

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

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

(2014) Valentina Pinna et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A Defined Zebrafish Line for High-Throughput Genetics and Genomics: NHGRI-1

(2014) Matthew C. LaFave et al.   GENETICS

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

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 Are Identified in Individuals with Congenital Hypogonadotropic Hypogonadism

(2013) Hichem Miraoui et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The RASopathies

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

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

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

Review and update ofSPRED1mutations causing legius syndrome

(2012) Hilde Brems et al.   HUMAN MUTATION

Fiji: an open-source platform for biological-image analysis

(2012) Johannes Schindelin et al.   NATURE METHODS

Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR

(2011) Emily Spencer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Lessons from morpholino-based screening in zebrafish

(2011) V. M. Bedell et al.   Briefings in Functional Genomics

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

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

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

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

Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms

(2010) Marco Tartaglia et al.   Annals of the New York Academy of Sciences

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