The next phase of our MENTAL HEALTH project is here & WE NEED YOUR HELP PLEASE:   Could you spare a little time to fill out our survey:  https://t.co/nvEJuwnEZ2   Thank you so much for your help Mandy & the GoPI3Ks team. @CAR_UWE those tagged could u pls can you share, thanks ☺️

The next phase of our MENTAL HEALTH project is here & WE NEED YOUR HELP PLEASE:   Could you spare a little time to fill out our survey:  https://t.co/nvEJuwn79u   Thank you so much for your help Mandy & the GoPI3Ks team. @CAR_UWE those tagged could u pls can you share, thanks ☺️

This is a very thorough case report. The patient is described as having a unique constellation of symptoms, but this is a fairly typical presentation if you are looking at MCAP and not all of PROS -CC

PIK3CA-Related Overgrowth Spectrum With Progressive Neurological Manifestations: A Rare Case Report

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

Now online! Microbiome metabolism of dietary phytochemicals controls the anticancer activity of PI3K inhibitors

Another #labfirsts : First publication from Neurodevelopment Lab @jncasr, with @VishalLolam in @FrontNeurol. Our review on #pediatric #epilepsy highlights mechanistic aspects of the disorder beyond channelopathies, emphasizing the importance of #PI3K_AKT_MTOR pathway.

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. https://t.co/wd6QaVteI2

preprint: Activating PIK3CA Mutations of Adipose-derived Stem Cells Drive Mutant-like Phenotypes of Wild-type Cells in Macrodactyly

Oncogenic PIK3CA corrupts growth factor signaling specificity https://t.co/yJhJ8EPytl #openaccess “our quantitative PI3K signaling framework can now be used for screening purposes to identify therapeutic modalities that normalize growth factor-specific signal transfer”

Report on Alpelisib trial for PROS

It was a wonderful opportunity to meet these collaborators for the first time. We appreciate all that the Kroll Lab is doing to better understand how these genetic changes affect patients. They aim to discover treatments that mitigate these changes and improve patients lives.

In September, members of our board w/ family were able to visit the Kroll Lab, which is conducting iPSC research funded by our community. Lab members presented to us the status and ambitions of their work so far, and then we were able to take a tour of the lab.

Defining the transcriptome of PIK3CA-altered cells in a human capillary malformation using single cell long-read sequencing https://t.co/MC9v5rTJ0u MCAP patient with p.His1047Tyr variant #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. https://t.co/ycJyl7S0Gj

Non-Hotspot PIK3CA Variants Have Higher Variant Allele Frequency and are More Common in Syndromic Vascular Malformations https://t.co/CYzhdB2IoM #openaccess

A class I PI3K signalling network regulates primary cilia disassembly in normal physiology and disease

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

Targeted therapy for capillary-venous malformations https://t.co/zkz3kg6w6j 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

Atypical Presentation and Evolution of Necrotizing Enterocolitis as a PIK3CA Pathological Variant https://t.co/tMHDQjppBn MCAP patient passed away at 9m