ReviewCell cycle (Georgetown, Tex.)2013
Mosaic RASopathies.
Review in Cell cycle (Georgetown, Tex.), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
46 citing papers in PubMed, 1 synthesis or guideline pooled it, 91 citations in OpenAlex.
- Characterization of large structural genetic mosaicism in human autosomes.American journal of human genetics · 2015Pooled it
- A 13-Year-Old Girl Affected by Melanocytic Tumors of the Central Nervous System-The Case.International journal of molecular sciences · 2024Article
- Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition.JCI insight · 2023Article
- RAS pathway: The new frontier of brain mosaicism in epilepsy.Neurobiology of disease · 2023Review
- Defining the spatial landscape of KRAS mutated congenital pulmonary airway malformations: a distinct entity with a spectrum of histopathologic features.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies.Genes, chromosomes & cancer · 2022Article
- The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.Nature communications · 2022Article
- Identification of Codon 146International journal of molecular sciences · 2022Article
- Precision drugging of the MAPK pathway in head and neck cancer.NPJ genomic medicine · 2022Review
- The RASopathies: from pathogenetics to therapeutics.Disease models & mechanisms · 2022Review
- A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome.Frontiers in endocrinology · 2022Article
- Linear Nevus Sebaceous Syndrome in a Child With Infantile Spasms and Focal Cortical Dysplasia.Cureus · 2021Article
- Integrated in silico MS-based phosphoproteomics and network enrichment analysis of RASopathy proteins.Orphanet journal of rare diseases · 2021Article
- Drosophila RASopathy models identify disease subtype differences and biomarkers of drug efficacy.iScience · 2021Article
- Selective Translation of Cell Fate Regulators Mediates Tolerance to Broad Oncogenic Stress.Cell stem cell · 2020Article
- The duality of human oncoproteins: drivers of cancer and congenital disorders.Nature reviews. Cancer · 2020Review
- DIAGNOSIS OF ENDOCRINE DISEASE: Mosaic disorders of FGF23 excess: Fibrous dysplasia/McCune-Albright syndrome and cutaneous skeletal hypophosphatemia syndrome.European journal of endocrinology · 2020Review
- Disorders Caused by Genetic Mosaicism.Deutsches Arzteblatt international · 2020Review
- The paradox of cancer genes in non-malignant conditions: implications for precision medicine.Genome medicine · 2020Review
- A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus.Journal of human genetics · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
"RASopathies" are a group of developmental syndromes with partly overlapping clinical symptoms that are caused by germline mutations of genes within the Ras/MAPK signaling pathway. Mutations affecting this pathway can also occur in a mosaic state, resulting in congenital syndromes often distinct from those generated by the corresponding germline mutations. For syndromes caused by mosaic mutations of the Ras/MAPK signaling pathway, the term "mosaic RASopathies" has been proposed. In the following article, genetic and phenotypic aspects of mosaic RASopathies will be discussed.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.