Associated Papers
The Raf/LIN-45 C-terminal distal tail segment negatively regulates signaling in Caenorhabditis elegans.
Townley RA et al.
Genetics, 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
The Raf/LIN-45 C-terminal distal tail segment negatively regulates signaling in Caenorhabditis elegans.
Townley RA et al.
Biorxiv : the Preprint Server for Biology, 2024
RAS and SHOC2 Roles in RAF Activation and Therapeutic Considerations.
Bonsor DA et al.
Annual Review of Cancer Biology, 2024
Unique Spectrum of Activating BRAF Alterations in Prostate Cancer.
Chehrazi-Raffle A et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Protocol for measuring BRAF autoinhibition in live cells using a proximity-based NanoBRET assay.
Spencer-Smith R et al.
Star Protocols, 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
RASopathy mutations provide functional insight into the BRAF cysteine-rich domain and reveal the importance of autoinhibition in BRAF regulation.
Spencer-Smith R et al.
Molecular Cell, 2022
RASopathy mutations open new insights into the mechanism of BRAF activation.
Dar AC et al.
Molecular Cell, 2022
Effects of Noonan Syndrome-Germline Mutations on Mitochondria and Energy Metabolism.
Bajia D et al.
Cells, 2022
Structural insights into the BRAF monomer-to-dimer transition mediated by RAS binding.
Martinez Fiesco JA et al.
Nature Communications, 2022
Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing.
Bando H et al.
Frontiers in Endocrinology, 2022
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.
Battaglia DI et al.
Genes, 2021
Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans.
Gualtieri A et al.
Nature Communications, 2021
Clinical and molecular spectra of BRAF-associated RASopathy.
Lee Y et al.
Journal of Human Genetics, 2021
Retrospective Case Series Analysis of RAF Family Alterations in Pancreatic Cancer: Real-World Outcomes From Targeted and Standard Therapies.
Hendifar A et al.
Jco Precision Oncology, 2021
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Hescheler DA et al.
Frontiers in Endocrinology, 2021
Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study.
Almontashiri NAM et al.
Scientific Reports, 2020
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis.
Wu-Chou YH et al.
Journal of Biomedical Science, 2018
The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway.
Tajan M et al.
Endocrine Reviews, 2018
BRaf signaling principles unveiled by large-scale human mutation analysis with a rapid lentivirus-based gene replacement method.
Lim CS et al.
Genes & Development, 2017
Bioinformatics Approach for Prediction of Functional Coding/Noncoding Simple Polymorphisms (SNPs/Indels) in Human BRAF Gene.
Hassan MM et al.
Advances in Bioinformatics, 2016
BRAF gene: From human cancers to developmental syndromes.
Hussain MR et al.
Saudi Journal of Biological Sciences, 2015
A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines.
Nishi E et al.
American Journal of Medical Genetics. Part A, 2015
A transient myelodysplastic/myeloproliferative neoplasm in a patient with cardio-facio-cutaneous syndrome and a germline BRAF mutation.
Sekiguchi K et al.
American Journal of Medical Genetics. Part A, 2013
LEOPARD Syndrome: Clinical Features and Gene Mutations.
Martínez-Quintana E et al.
Molecular Syndromology, 2012
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
Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms.
Tartaglia M et al.
Annals of the New York Academy of Sciences, 2010
Noonan syndrome: clinical aspects and molecular pathogenesis.
Tartaglia M et al.
Molecular Syndromology, 2010
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
Sarkozy A et al.
Human Mutation, 2009
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
Schulz AL et al.
Clinical Genetics, 2008
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
Nava C et al.
Journal of Medical Genetics, 2007
Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence.
Koudova M et al.
European Journal of Medical Genetics, 0