Associated Papers
Understanding Molecular Basis of PTPN11-Related Diseases.
Um S et al.
Arxiv, 2025
Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.
Gagoski D et al.
Protein Science : a Publication of the Protein Society, 2025
Multiplexed single-cell transcriptomics reveals diverse phenotypic outcomes for pathogenic SHP2 variants.
van Vlimmeren AE et al.
Biorxiv : the Preprint Server for Biology, 2025
Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Nature Communications, 2025
A Robust and Comprehensive Study of the Molecular and Genetic Basis of Neurodevelopmental Delay in a Sample of 3244 Patients, Evaluated by Exome Analysis in a Latin Population.
Lamilla J et al.
Diagnostics (basel, Switzerland), 2025
Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.
Gagoski D et al.
Biorxiv : the Preprint Server for Biology, 2025
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Deep mutational scanning of a multi-domain signaling protein reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Biorxiv : the Preprint Server for Biology, 2024
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
PTPN11/Corkscrew Activates Local Presynaptic Mapk Signaling to Regulate Synapsin, Synaptic Vesicle Pools, and Neurotransmission Strength, with a Dual Requirement in Neurons and Glia.
Leahy SN et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2024
Phenotypic and genotypic spectrum of noonan syndrome: A retrospective analysis of 46 consecutive pediatric patients presented at a regional cardiac center in China.
Chen Q et al.
Heliyon, 2024
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Carcavilla A et al.
Journal of Clinical Medicine, 2023
FMRP activity and control of Csw/SHP2 translation regulate MAPK-dependent synaptic transmission.
Leahy SN et al.
Plos Biology, 2023
Effects of Noonan Syndrome-Germline Mutations on Mitochondria and Energy Metabolism.
Bajia D et al.
Cells, 2022
Drosophila RASopathy models identify disease subtype differences and biomarkers of drug efficacy.
Das TK et al.
Iscience, 2021
Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil.
Bertola DR et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.
Brodehl A et al.
International Journal of Molecular Sciences, 2019
Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations.
Calcagni G et al.
Orphanet Journal of Rare Diseases, 2019
Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong.
Yu KPT et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
Generation of an induced pluripotent stem cell line (TRNDi003-A) from a Noonan syndrome with multiple lentigines (NSML) patient carrying a p.Q510P mutation in the PTPN11 gene.
Li R et al.
Stem Cell Research, 2019
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.
Carcavilla A et al.
Revista Espanola De Cardiologia (english Ed.), 2013
Tegumentary manifestations of Noonan and Noonan-related syndromes.
Quaio CR et al.
Clinics (sao Paulo, Brazil), 2013
Ocular manifestations of Noonan syndrome.
Marin Lda R et al.
Ophthalmic Genetics, 2012
Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His.
Wakabayashi Y et al.
American Journal of Medical Genetics. Part A, 2011
Ras in cancer and developmental diseases.
Fernández-Medarde A et al.
Genes & Cancer, 2011
PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes.
Brasil AS et al.
Genetic Testing and Molecular Biomarkers, 2010
Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling.
Edouard T et al.
Molecular and Cellular Biology, 2010
LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature.
Kalev I et al.
European Journal of Pediatrics, 2010
PTPN11 gene mutation and severe neonatal hypertrophic cardiomyopathy: what is the link?
Faienza MF et al.
Pediatric Cardiology, 2009
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
Aoki Y et al.
Human Mutation, 2008
Isolation of a distinct class of gain-of-function SHP-2 mutants with oncogenic RAS-like transforming activity from solid tumors.
Miyamoto D et al.
Oncogene, 2008
A Novel A461S Mutation of PTPN11 in a Female with LEOPARD Syndrome.
Yoshida R et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2008
PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".
Digilio MC et al.
European Journal of Pediatrics, 2006
Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1.
Hanna N et al.
Febs Letters, 2006
PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects.
Kontaridis MI et al.
The Journal of Biological Chemistry, 2006
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
Tartaglia M et al.
American Journal of Human Genetics, 2006
Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype?
Kitsiou-Tzeli S et al.
Hormone Research, 2006
A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy.
Takahashi K et al.
European Journal of Pediatrics, 2005
Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.
Kalidas K et al.
Journal of Human Genetics, 2005
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.
Keren B et al.
Journal of Medical Genetics, 2004