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
Structural basis for LZTR1 recognition of RAS GTPases for degradation.
Dharmaiah S et al.
Science (new York, N.y.), 2025
Genetic findings of children with congenital heart diseases using chromosomal microarray and trio-based whole exome sequencing.
Guo R et al.
Scientific Reports, 2025
Dysregulation of RAS proteostasis by autosomal-dominant LZTR1 mutation induces Noonan syndrome-like phenotypes in mice.
Abe T et al.
Jci Insight, 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
Interactions between Ras and Rap signaling pathways during neurodevelopment in health and disease.
Cherra SJ et al.
Frontiers in Molecular Neuroscience, 2024
The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
Maksiutenko EM et al.
International Journal of Molecular Sciences, 2023
An Assessment of the Therapeutic Landscape for the Treatment of Heart Disease in the RASopathies.
Yi JS et al.
Cardiovascular Drugs and Therapy, 2023
RAS-dependent RAF-MAPK hyperactivation by pathogenic RIT1 is a therapeutic target in Noonan syndrome-associated cardiac hypertrophy.
Cuevas-Navarro A et al.
Science Advances, 2023
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne AB et al.
Nature Medicine, 2023
RASopathies and cardiac manifestations.
Hilal N et al.
Frontiers in Cardiovascular Medicine, 2023
New prospectives on treatment opportunities in RASopathies.
Gelb BD et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
Effects of Noonan Syndrome-Germline Mutations on Mitochondria and Energy Metabolism.
Bajia D et al.
Cells, 2022
Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis.
Weaver KN et al.
Circulation. Genomic and Precision Medicine, 2022
The RASopathies: from pathogenetics to therapeutics.
Hebron KE et al.
Disease Models & Mechanisms, 2022
A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.
Chen S et al.
Genome Research, 2022
Cardiovascular Abnormalities and Gene Mutations in Children With Noonan Syndrome.
Sun L et al.
Frontiers in Genetics, 2022
Noonan syndrome caused by RIT1 gene mutation: A case report and literature review.
Zha P et al.
Frontiers in Pediatrics, 2022
The RAS GTPase RIT1 compromises mitotic fidelity through spindle assembly checkpoint suppression.
Cuevas-Navarro A et al.
Current Biology : Cb, 2021
Structural Model for Recruitment of RIT1 to the LZTR1 E3 Ligase: Evidences from an Integrated Computational Approach.
Paladino A et al.
Journal of Chemical Information and Modeling, 2021
Etiology and Treatment of Growth Delay in Noonan Syndrome.
Rodríguez F et al.
Frontiers in Endocrinology, 2021
The molecular functions of RIT1 and its contribution to human disease.
Van R et al.
The Biochemical Journal, 2020
Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.
Edwards JJ et al.
Jacc. Basic to Translational Science, 2020
Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome.
Shoji Y et al.
Endocrine Journal, 2019
New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis.
Takahara S et al.
Ebiomedicine, 2019
A novel RIT1 mutation causes deterioration of Noonan syndrome-associated cardiac hypertrophy.
Cai J et al.
Ebiomedicine, 2019
RIT1 oncoproteins escape LZTR1-mediated proteolysis.
Castel P et al.
Science (new York, N.y.), 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
RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1.
Meyer Zum Büschenfelde U et al.
Plos Genetics, 2018
Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies.
Leung GKC et al.
Scientific Reports, 2018
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.
Kouz K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Expansion of the RASopathies.
Tidyman WE et al.
Current Genetic Medicine Reports, 2016
Biochemical Classification of Disease-associated Mutants of RAS-like Protein Expressed in Many Tissues (RIT1).
Fang Z et al.
The Journal of Biological Chemistry, 2016
Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.
Yaoita M et al.
Human Genetics, 2016
The usefulness of whole-exome sequencing in routine clinical practice.
Iglesias A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014
Further evidence of the importance of RIT1 in Noonan syndrome.
Bertola DR et al.
American Journal of Medical Genetics. Part A, 2014
Next-generation sequencing identifies rare variants associated with Noonan syndrome.
Chen PC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2014
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014