M-CM Network
@mcmdotnet
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Improving the lives of individuals with macrocephaly-capillary malformation syndrome. M-CM is caused by mosaic PIK3CA mutations. Tweets by @_chrisco
Joined March 2011
RT @CanaudLab: Our latest paper is out today in @PNAS. Congratulations to Quitterie, Sophia, Marina, and the entire team!🍾🤩🥳PIK3CA gain-of-….
pnas.org
PIK3CA-related disorders are rare genetic disorders due to somatic gain-of-function mutations in PIK3CA during embryonic development, a pathway inv...
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RT @CellCellPress: Now online! Microbiome metabolism of dietary phytochemicals controls the anticancer activity of PI3K inhibitors https:/….
cell.com
Diet can impact anticancer drug activity. A classic example in rodents is a ketogenic diet enhancing PI3K inhibitor activity. Here, we show that phytochemicals and their microbiome derivatives,...
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RT @roy_achira: Another #labfirsts : First publication from Neurodevelopment Lab @jncasr, with @VishalLolam in @FrontNeurol. Our review on….
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RT @MarionaGraupera: We are excited to share our work on Context-dependent response of endothelial cells to PIK3CA mutation. A tour the for….
biorxiv.org
Cancer mutations in the PIK3CA gene cause congenital disorders. The endothelium is among the most frequently affected tissues in these disorders, displaying aberrant vascular overgrowth in the form...
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preprint: Activating PIK3CA Mutations of Adipose-derived Stem Cells Drive Mutant-like Phenotypes of Wild-type Cells in Macrodactyly
researchsquare.com
Background Pathological adipose proliferation is one of characteristic manifestations of macrodactyly. Although PIK3CA gain-of-function mutations are known to impact adipose-derived stem cells...
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Oncogenic PIK3CA corrupts growth factor signaling specificity #openaccess .“our quantitative PI3K signaling framework can now be used for screening purposes to identify therapeutic modalities that normalize growth factor-specific signal transfer”.
embopress.org
imageimageA single-cell signaling framework is developed for quantitative measurements of information flow within the phosphoinositide 3-kinase (PI3K) pathway, enabling high-resolution studies of...
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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.
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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.
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Defining the transcriptome of PIK3CA-altered cells in a human capillary malformation using single cell long-read sequencing MCAP patient with p.His1047Tyr variant #OpenAccess.
nature.com
Scientific Reports - Defining the transcriptome of PIK3CA-altered cells in a human capillary malformation using single cell long-read sequencing
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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.
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Non-Hotspot PIK3CA Variants Have Higher Variant Allele Frequency and are More Common in Syndromic Vascular Malformations #openaccess.
onlinelibrary.wiley.com
PIK3CA variants are known to cause vascular malformations. We were interested in studying the phenotypic spectrum, the location within the PIK3CA gene, and the variant allele frequency (VAF) of...
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A class I PI3K signalling network regulates primary cilia disassembly in normal physiology and disease
nature.com
Nature Communications - Primary cilia are cell organelles disrupted in developmental diseases and cancer. Here, the authors identify cilia regulators that generate a specific cilia membrane lipid,...
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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
academic.oup.com
Abstract. Somatic activating mutations in PIK3CA cause a wide spectrum of clinical phenotypes characterized by mosaic pattern overgrowth of tissues. These
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Targeted therapy for capillary-venous malformations 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.
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Atypical Presentation and Evolution of Necrotizing Enterocolitis as a PIK3CA Pathological Variant MCAP patient passed away at 9m.
cureus.com
Activating mutation of PIK3CA is linked with cases of overgrowth syndromes and belongs to the PIK3CA-related overgrowth spectrum (PROS). Mutations in this gene are associated with vascular malfo...
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RT @GoPI3Ks: Along with GOSH & @CAR_UWE we’re looking at the impact of living with PROS has. Our ultimate goal is to improve patient & pare….
docs.google.com
At GoPI3Ks we want to learn more about the impact living with PROS has on you/your child. We are collaborating with a researcher at the Centre for Appearance Research at the University of the West of...
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PIK3CA-Related Disorders: From Disease Mechanism to Evidence-Based Treatments
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Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology
neurology.org
ObjectivesBrain-limited pathogenic somatic variants are associated with focal pediatric epilepsy, but reliance on resected brain tissue samples has limited our ability to correlate epileptiform...
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#GivingTuesday kicks off the season of giving. Support our work promoting research and understanding of our rare and precious patients with M-CM / MCAP
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