Associated Papers
Phenotypic Analysis of Embryos in a Noonan Syndrome Model Mouse With the Rit1 A57G Mutation.
Suzuki D et al.
Molecular Genetics & Genomic Medicine, 2025
Novel SOS1 Mutations Associated With Hereditary Gingival Fibromatosis and Dual-Gated Model for SOS1 Activation.
Gao Q et al.
Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2025
Protein-losing enteropathy and multiple vasculature dysplasia in LZTR1-related Noonan syndrome: A case report and review of literature.
Tian QJ et al.
World Journal of Gastroenterology, 2025
Trametinib as a targeted treatment in cardiac and lymphatic presentations of Noonan syndrome.
De Brouchoven I et al.
Frontiers in Pediatrics, 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
Refractory Chylothorax and Ventricular Hypertrophy Treated with Trametinib in a Patient with Noonan Syndrome: 18-Month Follow-Up.
Pascarella A et al.
Children (basel, Switzerland), 2024
Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.
Kim J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Trametinib restores the central conducting lymphatic flow in a premature infant with Noonan syndrome.
Leenders EKSM et al.
Clinical Case Reports, 2024
Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib.
Gazzin A et al.
Life (basel, Switzerland), 2024
Novel therapeutic perspectives in Noonan syndrome and RASopathies.
Saint-Laurent C et al.
European Journal of Pediatrics, 2024
Interactions between Ras and Rap signaling pathways during neurodevelopment in health and disease.
Cherra SJ et al.
Frontiers in Molecular Neuroscience, 2024
An Assessment of the Therapeutic Landscape for the Treatment of Heart Disease in the RASopathies.
Yi JS et al.
Cardiovascular Drugs and Therapy, 2023
Treatment of severe Kaposiform lymphangiomatosis positive for NRAS mutation by MEK inhibition.
Chowers G et al.
Pediatric Research, 2023
Whole genome sequencing vs chromosomal microarray analysis in prenatal diagnosis.
Hu P et al.
American Journal of Obstetrics and Gynecology, 2023
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Carcavilla A et al.
Journal of Clinical Medicine, 2023
Case report: Noonan syndrome with protein-losing enteropathy.
Ou Y et al.
Frontiers in Genetics, 2023
Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly.
Liu M et al.
European Journal of Human Genetics : Ejhg, 2022
Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study.
Chan W et al.
Eclinicalmedicine, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
The RASopathies: from pathogenetics to therapeutics.
Hebron KE et al.
Disease Models & Mechanisms, 2022
Genotype-cardiac phenotype correlations in a large single-center cohort of patients affected by RASopathies: Clinical implications and literature review.
Leoni C et al.
American Journal of Medical Genetics. Part A, 2022
Lack of embryonic homozygous or adult heterozygous lymphatic phenotypes for a Sos1 mutation and lack of lymphatic embryonic phenotypes for a homozygous Cx47 mutation in mice.
Geng X et al.
Lymphology, 2022
In-Silico and In-Vitro Analysis of Human SOS1 Protein Causing Noonan Syndrome - A Novel Approach to Explore the Molecular Pathways.
Sigamani V et al.
Current Genomics, 2021
Multiple versus solitary giant cell lesions of the jaw: Similar or distinct entities?
Schreuder WH et al.
Bone, 2021
Etiology and Treatment of Growth Delay in Noonan Syndrome.
Rodríguez F et al.
Frontiers in Endocrinology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
SOS GEFs in health and disease.
Baltanás FC et al.
Biochimica Et Biophysica Acta. Reviews on Cancer, 2020
Severe Lymphatic Disorder Resolved With MEK Inhibition in a Patient With Noonan Syndrome and SOS1 Mutation.
Dori Y et al.
Pediatrics, 2020
Development of Noonan syndrome by deregulation of allosteric SOS autoactivation.
Umutesi HG et al.
The Journal of Biological Chemistry, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
SOS1 Gain-of-Function Variants in Dilated Cardiomyopathy.
Cowan JR et al.
Circulation. Genomic and Precision Medicine, 2020
Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.
Castellanos E et al.
Clinical Genetics, 2020
Case Report: Safety and Efficacy of Denosumab in Four Children With Noonan Syndrome With Multiple Giant Cell Lesions of the Jaw.
Ferriero K et al.
Frontiers in Pediatrics, 2020
The impact of RASopathy-associated mutations on CNS development in mice and humans.
Kang M et al.
Molecular Brain, 2019
SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review.
Baban A et al.
American Journal of Medical Genetics. Part A, 2019
Recurrent genetic HLA loss in AML relapsed after matched unrelated allogeneic hematopoietic cell transplantation.
Jan M et al.
Blood Advances, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor.
Li D et al.
Nature Medicine, 2019
Identification and Characterization of Oncogenic SOS1 Mutations in Lung Adenocarcinoma.
Cai D et al.
Molecular Cancer Research : Mcr, 2019
Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort.
Chen H et al.
Orphanet Journal of Rare Diseases, 2019
The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway.
Tajan M et al.
Endocrine Reviews, 2018
Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients.
Levin MD et al.
American Journal of Medical Genetics. Part A, 2018
Oncogenic Signaling Pathways in The Cancer Genome Atlas.
Sanchez-Vega F et al.
Cell, 2018
Mek1Y130C mice recapitulate aspects of human cardio-facio-cutaneous syndrome.
Aoidi R et al.
Disease Models & Mechanisms, 2018
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.
Petrikin JE et al.
Npj Genomic Medicine, 2018
Noonan syndrome: lessons learned from genetically modified mouse models.
Schuhmacher AJ et al.
Expert Review of Endocrinology & Metabolism, 2017