#GivingTuesday kicks off the season of giving. Support our work promoting research and understanding of our rare and precious patients with M-CM / MCAP m-cm.net/donate

Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology doi.org/10.1212/NXG.00…

PIK3CA-Related Disorders: From Disease Mechanism to Evidence-Based Treatments doi.org/10.1146/annure…

Along with GOSH & Appearance Research we’re looking at the impact of living with PROS has. Our ultimate goal is to improve patient & parent support, access to psychology etc we need your help if you’d be able to fill out our survey Thank you forms.gle/FPAuqjz3HcVvB8…

Atypical Presentation and Evolution of Necrotizing Enterocolitis as a PIK3CA Pathological Variant doi.org/10.7759/cureus… MCAP patient passed away at 9m

Targeted therapy for capillary-venous malformations doi.org/10.1038/s41392… mouse models and patient cohort with both PIK3CA & TEK mutations + exploration of AKT involvement, effect of different inhibitors on models, & measurement of metabolites as possible biomarkers #openaccess

These patients have typically been considered MCAP or M-CM patients. Germline variants are not particularly rare within our slice of PROS. It’s good to see cardiac and renal anomalies acknowledged, they occur in non-germline MCAP patients as well -CC doi.org/10.1093/bjd/lj…

A class I PI3K signalling network regulates primary cilia disassembly in normal physiology and disease doi.org/10.1038/s41467…

Non-Hotspot PIK3CA Variants Have Higher Variant Allele Frequency and are More Common in Syndromic Vascular Malformations doi.org/10.1002/ajmg.a… #openaccess

Our M-CM Network wall calendar is now available for 2025! This beloved community project features almost 100 patients affected by M-CM / MCAP. The calendar can be ordered from print-on-demand service Lulu Publishing. lulu.com/shop/m-cm-fami…

Defining the transcriptome of PIK3CA-altered cells in a human capillary malformation using single cell long-read sequencing doi.org/10.1038/s41598… MCAP patient with p.His1047Tyr variant #OpenAccess

Report on Alpelisib trial for PROS sciencedirect.com/science/articl…

Oncogenic PIK3CA corrupts growth factor signaling specificity doi.org/10.1038/s44320… #openaccess “our quantitative PI3K signaling framework can now be used for screening purposes to identify therapeutic modalities that normalize growth factor-specific signal transfer”

preprint: Activating PIK3CA Mutations of Adipose-derived Stem Cells Drive Mutant-like Phenotypes of Wild-type Cells in Macrodactyly doi.org/10.21203/rs.3.…

We are excited to share our work on Context-dependent response of endothelial cells to PIK3CA mutation. A tour the force of many; thank you all for your invaluable contribution. bit.ly/4blKSqa

Now online! Microbiome metabolism of dietary phytochemicals controls the anticancer activity of PI3K inhibitors dlvr.it/TL5t5S

Another #labfirsts : First publication from Neurodevelopment Lab JNCASR Bangalore, with Vishal Lolam in Frontiers - Neurology. Our review on #pediatric #epilepsy highlights mechanistic aspects of the disorder beyond channelopathies, emphasizing the importance of #PI3K_AKT_MTOR pathway.

Our latest paper is out today in @PNAS. Congratulations to Quitterie, Sophia, Marina, and the entire team!🍾🤩🥳PIK3CA gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect | PNAS pnas.org/doi/10.1073/pn…