Associated Papers
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
Clinical utility of Next Generation Sequencing of plasma cell-free DNA for the molecular profiling of patients with NSCLC at diagnosis and disease progression.
Del Re M et al.
Translational Oncology, 2024
Activating mutations drive human MEK1 kinase using a gear-shifting mechanism.
Patil K et al.
The Biochemical Journal, 2023
A significant proportion of classic Hodgkin lymphoma recurrences represents clonally unrelated second primary lymphoma.
van Bladel DAG et al.
Blood Advances, 2023
Evolutionary history of MEK1 illuminates the nature of deleterious mutations.
Andrianova EP et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Caspase 3-specific cleavage of MEK1 suppresses ERK signaling and sensitizes cells to stress-induced apoptosis.
Moriizumi H et al.
Febs Open Bio, 2023
Stochastic phenotypes in RAS-dependent developmental diseases.
Marmion RA et al.
Current Biology : Cb, 2023
Diagnostic yield using whole-genome sequencing and in-silico panel of 281 genes associated with non-immune hydrops fetalis in clinical setting.
Westenius E et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2022
Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory.
Caswell RC et al.
Genome Medicine, 2022
Qualitative differences in disease-associated MEK mutants reveal molecular signatures and aberrant signaling-crosstalk in cancer.
Kubota Y et al.
Nature Communications, 2022
Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.
Chevrier S et al.
International Journal of Molecular Medicine, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Molecular mechanisms underlying cellular effects of human MEK1 mutations.
Marmion RA et al.
Molecular Biology of the Cell, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Swimming toward solutions: Using fish and frogs as models for understanding RASopathies.
Patterson VL et al.
Birth Defects Research, 2020
Genomic profiling of primary histiocytic sarcoma reveals two molecular subgroups.
Egan C et al.
Haematologica, 2020
Inference of Multisite Phosphorylation Rate Constants and Their Modulation by Pathogenic Mutations.
Yeung E et al.
Current Biology : Cb, 2020
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Somatic activating mutations in MAP2K1 cause melorheostosis.
Kang H et al.
Nature Communications, 2018
How activating mutations affect MEK1 regulation and function.
Jindal GA et al.
The Journal of Biological Chemistry, 2017
Divergent effects of intrinsically active MEK variants on developmental Ras signaling.
Goyal Y et al.
Nature Genetics, 2017
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
MEK genomics in development and disease.
Bromberg-White JL et al.
Briefings in Functional Genomics, 2012
Fresh surgical specimens yield breast stem/progenitor cells and reveal their oncogenic abnormalities.
Pommier SJ et al.
Annals of Surgical Oncology, 2012
Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review.
Adachi M et al.
Seizure, 2012
Identification of the MEK1(F129L) activating mutation as a potential mechanism of acquired resistance to MEK inhibition in human cancers carrying the B-RafV600E mutation.
Wang H et al.
Cancer Research, 2011
Ras in cancer and developmental diseases.
Fernández-Medarde A et al.
Genes & Cancer, 2011
Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors.
Anastasaki C et al.
Human Molecular Genetics, 2009
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.
Dentici ML et al.
European Journal of Human Genetics : Ejhg, 2009
Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.
Nyström AM et al.
Journal of Medical Genetics, 2008
IGF signaling defects as causes of growth failure and IUGR.
Klammt J et al.
Trends in Endocrinology and Metabolism: Tem, 2008
Novel MEK1 mutation identified by mutational analysis of epidermal growth factor receptor signaling pathway genes in lung adenocarcinoma.
Marks JL et al.
Cancer Research, 2008
Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options.
Senawong T et al.
Human Molecular Genetics, 2008
Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
Rodriguez-Viciana P et al.
Methods in Enzymology, 2008
Neurological complications of cardio-facio-cutaneous syndrome.
Yoon G et al.
Developmental Medicine and Child Neurology, 2007
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
Rodriguez-Viciana P et al.
Science (new York, N.y.), 2006
MEK1 gene mutation in Japanese lung adenocarcinoma patients.
Sasaki H et al.
Molecular Medicine Reports, 0