M-CM Network retweeted
If you are interested in vascular anomalies, registration for the next VAC meeting is now open:
vacure-conference.net
Alpelisib, a PI3Kα inhibitor, effectively treats vascular anomalies with diverse genotypes and phenotypes
doi.org/10.1016/j.bvth.2025.…
M-CM Network retweeted
A recent research report by Centre for Appearance Research & Psychology @CAR_UWE in to exploring the social media experiences of young people with visible differences.
Low lymphozyte pool, colon perforation and hydrocephalus as clinical features in an infant with a postzygotic PIK3CA variant doi.org/10.3389/fped.2025.16…
M-CM Network retweeted
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: uwe.eu.qualtrics.com/jfe/for…
Thank you so much for your help
Mandy & the GoPI3Ks team. @CAR_UWE those tagged could u pls can you share, thanks ☺️
M-CM Network retweeted
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: uwe.eu.qualtrics.com/jfe/for…
Thank you so much for your help
Mandy & the GoPI3Ks team. @CAR_UWE those tagged could u pls can you share, thanks ☺️
PIK3CA-Related Overgrowth Spectrum With Progressive Neurological Manifestations: A Rare Case Report jnr.elmerpub.com/index.php/j…
M-CM Network retweeted
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/pnas.24…
M-CM Network retweeted
Now online! Microbiome metabolism of dietary phytochemicals controls the anticancer activity of PI3K inhibitors dlvr.it/TL5t5S
M-CM Network retweeted
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.
New Research: Developmental mechanisms underlying pediatric epilepsy frontiersin.org/articles/10.… #FrontiersIn #Neurology
M-CM Network retweeted
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
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.rs-535…
Oncogenic PIK3CA corrupts growth factor signaling specificity doi.org/10.1038/s44320-024-0… #openaccess
“our quantitative PI3K signaling framework can now be used for screening purposes to identify therapeutic modalities that normalize growth factor-specific signal transfer”
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.
ALT Group photo of M-CM Network families and Kroll Lab researchers taken in a narrow room of the research facility.
ALT Lab member Faiza Batool showing one of the ways that researchers visualize changes in affected cells. She is smiling, wearing a white lab coat and is standing next to a computer screen and a refrigerator.
Defining the transcriptome of PIK3CA-altered cells in a human capillary malformation using single cell long-read sequencing doi.org/10.1038/s41598-024-7… 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. lulu.com/shop/m-cm-families/…
ALT A calendar cover showing a grid of many faces and the title, M-CM Network 2025 Wall Calendar
Non-Hotspot PIK3CA Variants Have Higher Variant Allele Frequency and are More Common in Syndromic Vascular Malformations doi.org/10.1002/ajmg.a.63883 #openaccess