Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome

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

A Leucine Rich Repeat Protein Provides a SHOC2 the RAS Circuit: A Structure-Function Perspective

(2021) Jason J. Kwon et al.   MOLECULAR AND CELLULAR BIOLOGY

Highly accurate protein structure prediction with AlphaFold

(2021) John Jumper et al.   NATURE

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

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

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

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

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

The FBXW7-SHOC2-Raptor Axis Controls the Cross-Talks between the RAS-ERK and mTORC1 Signaling Pathways

(2019) Chuan-Ming Xie et al.   Cell Reports

M-Ras/Shoc2 signaling modulates E-cadherin turnover and cell–cell adhesion during collective cell migration

(2019) Pradeep Kota et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy

(2019) Marialetizia Motta et al.   HUMAN MOLECULAR GENETICS

SHOC2 complex-driven RAF dimerization selectively contributes to ERK pathway dynamics

(2019) Isabel Boned del Río et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Zebrafish: Housing and husbandry recommendations

(2019) Peter Aleström et al.   LABORATORY ANIMALS

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

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

Hematopoietic and neural crest defects in zebrafish shoc2 mutants: a novel vertebrate model for Noonan-like syndrome

(2018) HyeIn Jang, Erin Oakley, Marie Forbes-Osborne, Melissa V Kesler et al.   HUMAN MOLECULAR GENETICS

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

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

A novel rasopathy caused by recurrent de novo missense mutations inPPP1CBclosely resembles Noonan syndrome with loose anagen hair

(2016) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease

(2016) Lijiang Ma et al.   HUMAN GENETICS

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

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

(2014) Monica Bonetti et al.   DEVELOPMENT

Phosphoproteomics-Mediated Identification of Fer Kinase as a Target of Mutant Shp2 in Noonan and LEOPARD Syndrome

(2014) Jeroen Paardekooper Overman et al.   PLoS One

GROMACS 4.5: a high-throughput and highly parallel open source molecular simulation toolkit

(2013) Sander Pronk et al.   BIOINFORMATICS

An MRAS, SHOC2, and SCRIB Complex Coordinates ERK Pathway Activation with Polarity and Tumorigenic Growth

(2013) Lucy C. Young et al.   MOLECULAR CELL

MDAnalysis: A toolkit for the analysis of molecular dynamics simulations

(2011) Naveen Michaud-Agrawal et al.   JOURNAL OF COMPUTATIONAL CHEMISTRY

The Scaffold Protein Shoc2/SUR-8 Accelerates the Interaction of Ras and Raf

(2010) Rie Matsunaga-Udagawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies

(2010) Shoko Komatsuzaki et al.   JOURNAL OF HUMAN GENETICS

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

(2009) Viviana Cordeddu et al.   NATURE GENETICS