PIK3CA-Related Disorders: From Disease Mechanism to Evidence-Based Treatments
GM Morin, L Zerbib, S Kaltenbach… - Annual Review of …, 2024 - annualreviews.org
Recent advances in genetic sequencing are transforming our approach to rare-disease
care. Initially identified in cancer, gain-of-function mutations of the PIK3CA gene are also …
care. Initially identified in cancer, gain-of-function mutations of the PIK3CA gene are also …
When, where and which PIK3CA mutations are pathogenic in congenital disorders
PIK3CA encodes the class I PI3Kα isoform and is frequently mutated in cancer. Activating
mutations in PIK3CA also cause a range of congenital disorders featuring asymmetric tissue …
mutations in PIK3CA also cause a range of congenital disorders featuring asymmetric tissue …
Microphysiological model of PIK3CA-driven vascular malformations reveals a role of dysregulated Rac1 and mTORC1/2 in lesion formation
Somatic activating mutations of PIK3CA are associated with development of vascular
malformations (VMs). Here, we describe a microfluidic model of PIK3CA-driven VMs …
malformations (VMs). Here, we describe a microfluidic model of PIK3CA-driven VMs …
Somatic variants of MAP3K3 are sufficient to cause cerebral and spinal cord cavernous malformations
J Ren, Y Huang, Y Ren, T Tu, B Qiu, D Ai, Z Bi, X Bai… - Brain, 2023 - academic.oup.com
Cerebral cavernous malformations (CCMs) and spinal cord cavernous malformations
(SCCMs) are common vascular abnormalities of the CNS that can lead to seizure …
(SCCMs) are common vascular abnormalities of the CNS that can lead to seizure …
Impact of heterozygous ALK1 mutations on the transcriptomic response to BMP9 and BMP10 in endothelial cells from hereditary hemorrhagic telangiectasia and …
T Al Tabosh, H Liu, D Koça, M Al Tarrass, L Tu… - Angiogenesis, 2024 - Springer
Heterozygous activin receptor-like kinase 1 (ALK1) mutations are associated with two
vascular diseases: hereditary hemorrhagic telangiectasia (HHT) and more rarely pulmonary …
vascular diseases: hereditary hemorrhagic telangiectasia (HHT) and more rarely pulmonary …
[HTML][HTML] Cerebral cavernous malformation, familial
L Morrison, A Akers - 2016 - europepmc.org
Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and
spinal cord comprising closely clustered, enlarged capillary channels (caverns) with a single …
spinal cord comprising closely clustered, enlarged capillary channels (caverns) with a single …
Endothelial hyperactivation of mutant MAP3K3 induces cerebral cavernous malformation enhanced by PIK3CA GOF mutation
Cerebral cavernous malformations (CCMs) refer to a common vascular abnormality that
affects up to 0.5% of the population. A somatic gain-of-function mutation in MAP3K3 (p …
affects up to 0.5% of the population. A somatic gain-of-function mutation in MAP3K3 (p …
Symptomatic developmental venous anomaly: state-of-the-art review on genetics, pathophysiology, and imaging approach to diagnosis
CCT Hsu, T Krings - American Journal of Neuroradiology, 2023 - Am Soc Neuroradiology
Developmental venous anomalies (DVAs) are the most common slow-flow venous
malformation in the brain. Most DVAs are benign. Uncommonly, DVAs can become …
malformation in the brain. Most DVAs are benign. Uncommonly, DVAs can become …
mTORC1 inhibitor rapamycin inhibits growth of cerebral cavernous malformation in adult mice
BACKGROUND: Cerebral cavernous malformations (CCMs) are vascular malformations that
frequently cause stroke. CCMs arise due to loss of function in one of the genes that encode …
frequently cause stroke. CCMs arise due to loss of function in one of the genes that encode …
Cavernous Malformations of the Central Nervous System
ER Smith - New England Journal of Medicine, 2024 - Mass Medical Soc
Key Points Cerebral Cavernous Malformations CCMs are found in approximately 0.5% of
the population and characteristically manifest with headache, seizure, or focal neurologic …
the population and characteristically manifest with headache, seizure, or focal neurologic …