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
Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Nature Communications, 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
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
Identification of a putative molecular subtype of adult-type diffuse astrocytoma with recurrent MAPK pathway alterations.
Sievers P et al.
Acta Neuropathologica, 2024
Effects of Noonan Syndrome-Germline Mutations on Mitochondria and Energy Metabolism.
Bajia D et al.
Cells, 2022
Application of CRISPR-Cas9 gene editing for congenital heart disease.
Seok H et al.
Clinical and Experimental Pediatrics, 2021
Targeting a Pathogenic Cysteine Mutation: Discovery of a Specific Inhibitor of Y279C SHP2.
Kim JY et al.
Biochemistry, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants.
Ranza E et al.
Clinical Genetics, 2020
The functional landscape of the human phosphoproteome.
Ochoa D et al.
Nature Biotechnology, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Decoding disease-causing mechanisms of missense mutations from supramolecular structures.
Hijikata A et al.
Scientific Reports, 2017
Pathogenesis of multiple lentigines in LEOPARD syndrome with PTPN11 gene mutation.
Motegi S et al.
Acta Dermato-venereologica, 2015
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
Behavioral profile in RASopathies.
Alfieri P et al.
American Journal of Medical Genetics. Part A, 2014
Delayed primary diagnosis of LEOPARD syndrome type 1.
Staub J et al.
Journal of the American Academy of Dermatology, 2013
RASopathies: Clinical Diagnosis in the First Year of Life.
Digilio MC et al.
Molecular Syndromology, 2011
Long term memory profile of disorders associated with dysregulation of the RAS-MAPK signaling cascade.
Alfieri P et al.
Behavior Genetics, 2011
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.
Kleefstra T et al.
European Journal of Human Genetics : Ejhg, 2011
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
A novel PTPN11 missense mutation in a patient with LEOPARD syndrome.
Osawa R et al.
The British Journal of Dermatology, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development.
Oishi K et al.
Human Molecular Genetics, 2009
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
Aoki Y et al.
Human Mutation, 2008
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.
Martinelli S et al.
Human Molecular Genetics, 2008
Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome.
Limongelli G et al.
American Journal of Medical Genetics. Part A, 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
Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1.
Hanna N et al.
Febs Letters, 2006
LEOPARD syndrome: clinical diagnosis in the first year of life.
Digilio MC et al.
American Journal of Medical Genetics. Part A, 2006
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.
Keren B et al.
Journal of Medical Genetics, 2004
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.
Sarkozy A et al.
Journal of Medical Genetics, 2004