Associated Papers
Combined Immunodeficiency Associated With MAP2K1 p.Tyr130His Variant in Cardiofaciocutaneous Syndrome: A Case Report With Literature-Based Phenotypic Comparison.
Kökcü Karadağ Şİ et al.
Scandinavian Journal of Immunology, 2026
RAF-independent MEK mutations drive refractory histiocytic neoplasms but respond to ERK inhibition.
Diamond EL et al.
Cancer Cell, 2026
Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.
Brown JR et al.
Blood, 2026
Clinical and molecular analysis of seventy-one fetal cases with RASopathies.
Yu QX et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2025
Hotspots of human mutation point to clonal expansions in spermatogonia.
Seplyarskiy V et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Computational modeling of human genetic variants in mice.
Dong K et al.
Biorxiv : the Preprint Server for Biology, 2025
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
A literature review and pooled case analysis of cardiofaciocutaneous syndrome to estimate cancer risk.
Bess J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Role of Histopathology of Skin Lesions in Diagnosing MAP2K1-Positive Cardiofaciocutaneous Syndrome.
Rajyalakshmi R et al.
The American Journal of Dermatopathology, 2025
Aberrant ERK signaling in astrocytes impairs learning and memory in RASopathy-associated BRAF mutant mouse models.
Kang M et al.
The Journal of Clinical Investigation, 2025
Clinical outcomes and genomic profiles of MAP2K1-mutated primary cutaneous melanocytic tumours.
Ebbelaar CF et al.
Ebiomedicine, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
Q241R mutation of Braf causes neurological abnormalities in a mouse model of cardio-facio-cutaneous syndrome, independent of developmental malformations.
Moriya A et al.
Human Molecular Genetics, 2025
Genetic Landscape and Its Prognostic Impact in Children With Langerhans Cell Histiocytosis.
Wang CJ et al.
Archives of Pathology & Laboratory Medicine, 2025
Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1 -related RASopathy.
Grange DK et al.
American Journal of Medical Genetics. Part A, 2025
Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort.
Di Majo BE et al.
Frontiers in Immunology, 2025
Genomic instability and CCNE1 amplification as emerging biomarkers for stratifying high-grade serous ovarian cancer.
Conca E et al.
Frontiers in Oncology, 2025
Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs).
Wu R et al.
Frontiers in Neurology, 2025
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
Base editing screens define the genetic landscape of cancer drug resistance mechanisms.
Coelho MA et al.
Nature Genetics, 2024
Super multiple primary lung cancers harbor high-frequency BRAF and low-frequency EGFR mutations in the MAPK pathway.
Li H et al.
Npj Precision Oncology, 2024
A Literature Review and Pooled Case Analysis of Cardiofaciocutaneous Syndrome to Estimate Cancer Risk.
Bess J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Epilepsy in cardiofaciocutaneous syndrome: Clinical burden and response to anti-seizure medication.
Kenney-Jung DL et al.
American Journal of Medical Genetics. Part A, 2024
Long-term clinical course of adult-onset refractory epilepsy in cardiofaciocutaneous syndrome with a pathogenic MAP2K1 variant: a case report.
Tsuburaya-Suzuki R et al.
Frontiers in Genetics, 2024
The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern China.
Lai G et al.
Frontiers in Pediatrics, 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
The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications.
Scorrano G et al.
Genes, 2023
Systematic ophthalmologic evaluation in cardio-facio-cutaneous syndrome: A genotype-endophenotype correlation.
Crincoli E et al.
American Journal of Medical Genetics. Part A, 2023
MEK inhibitors in cancer treatment: structural insights, regulation, recent advances and future perspectives.
Ram T et al.
Rsc Medicinal Chemistry, 2023
Molecular Analysis of Biliary Tract Cancers with the Custom 3' RACE-Based NGS Panel.
Mitiushkina NV et al.
Diagnostics (basel, Switzerland), 2023
Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients.
Feng B et al.
Orphanet Journal of Rare Diseases, 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
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Carcavilla A et al.
Journal of Clinical Medicine, 2023
Concurrence of a kinase-dead BRAF and an oncogenic KRAS gain-of-function mutation in juvenile xanthogranuloma.
Seidel MG et al.
Pediatric Blood & Cancer, 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
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts.
Kundishora AJ et al.
Nature Medicine, 2023
High-Throughput Functional Evaluation of MAP2K1 Variants in Cancer.
Mizuno S et al.
Molecular Cancer Therapeutics, 2023
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.
Veltra D et al.
Expert Review of Molecular Diagnostics, 2023
RASopathies and cardiac manifestations.
Hilal N et al.
Frontiers in Cardiovascular Medicine, 2023
A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant.
Tang Q et al.
Pharmacogenomics and Personalized Medicine, 2023
Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management.
Nakhleh Francis Y et al.
Genetics in Medicine Open, 2023
Severe neuroglycopenic symptoms due to nonketotic hypoglycemia in children with cardio-facio-cutaneous syndrome.
Shiohama T et al.
American Journal of Medical Genetics. Part A, 2022
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.
Kenney-Jung DL et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
[Clinical analysis of a child with cardio-facio-cutaneous syndrome due to a de novo variant of MAP2K1 gene].
Cao H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022
Clinical study of MAP2K1-mutated Langerhans cell histiocytosis in children.
Yang Y et al.
Journal of Cancer Research and Clinical Oncology, 2022