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Title[redir]:
Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors - PMC
Description:
PIK3CA-related overgrowth spectrum (PROS) include a group of disorders that affect only the terminal portion of a limb, such as type I macrodactyly, and conditions like fibroadipose overgrowth (FAO), megalencephaly-capillary malformation (MCAP) ...
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Keywords {π}
patients, patient, mutations, cells, pikca, overgrowth, mutation, sequencing, pik, akt, performed, fibroblasts, clinical, doi, data, cell, pubmed, pmc, google, scholar, primary, syndrome, life, analysis, free, fig, age, article, fao, identified, pathway, technologies, left, pikaktmtor, targeted, affected, results, years, pros, signaling, mcap, genes, showed, proliferation, table, genet, tissue, growth, ion, spectrum,
Topics {βοΈ}
closely related megalencephaly-polymicrogyria-polydactyly-hydrocephalus synthetic phospho-peptide [klh-coupled] serum free d-mem megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome monoclonal anti-phospho-akt pi3k/akt/mtor cascade pi3k/akt/mtor pathways pmc beta search pi3k/akt/mtor pathway polyclonal anti-phospho-akt pi3k/akt/mtor signaling patients-derived primary fibroblasts supporting information files polyclonal anti-Ξ²-actin called macrocephaly-capillary malformation complete d-mem medium pik3ca-related overgrowth spectrum patient-derived fibroblasts showed polyclonal anti-phospho-p70s6k tissue/biopsy/cell culture samples data availability statement growth factor-independent proliferation combined-type vascular malformations funding statement license information pmcid showed increased levels mtorc2 kinase activity polyclonal anti-akt publisher site pdf abdominal ultrasound scans de novo germline primary fibroblasts obtained de novo mutations qiaamp mini kit sporadic overgrowth disorder pi3k/akt pathway data availability statements supplementary materials included primary fibroblasts samples ion ampliseq designer cultured dermal fibroblasts sanger sequencing methods cell signaling technology pi3k signaling network showed uneven distribution trypan blue staining macrocephaly-cutis marmoratatelangiectaticacongenita patientsβ primary fibroblasts pros patient-derived fibroblast radiological examination showed
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