A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations
G Canaud, AM Hammill, D Adams, M Vikkula… - Orphanet Journal of …, 2021 - Springer
Background PIK3CA-related disorders include vascular malformations and overgrowth of
various tissues that are caused by postzygotic, somatic variants in the gene encoding …
various tissues that are caused by postzygotic, somatic variants in the gene encoding …
Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth
CE Cottrell, NR Bender, MT Zimmermann… - Genetics in …, 2021 - nature.com
Purpose Somatic activating variants in the PI3K-AKT pathway cause vascular malformations
with and without overgrowth. We previously reported an individual with capillary and …
with and without overgrowth. We previously reported an individual with capillary and …
PIK3CA‐related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation
KM Keppler‐Noreuil, JJ Rios… - American journal of …, 2015 - Wiley Online Library
Somatic activating mutations in the phosphatidylinositol‐3‐kinase/AKT/mTOR pathway
underlie heterogeneous segmental overgrowth phenotypes. Because of the extreme …
underlie heterogeneous segmental overgrowth phenotypes. Because of the extreme …
Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT …
DC Loconte, V Grossi, C Bozzao, G Forte, R Bagnulo… - PloS one, 2015 - journals.plos.org
Background PIK3CA-related overgrowth spectrum (PROS) include a group of disorders that
affect only the terminal portion of a limb, such as type I macrodactyly, and conditions like …
affect only the terminal portion of a limb, such as type I macrodactyly, and conditions like …
PIK3CA vascular overgrowth syndromes: an update
M Hughes, M Hao, M Luu - Current Opinion in Pediatrics, 2020 - journals.lww.com
PIK3CA vascular overgrowth syndromes: an update : Current Opinion in Pediatrics PIK3CA
vascular overgrowth syndromes: an update : Current Opinion in Pediatrics Log in or Register …
vascular overgrowth syndromes: an update : Current Opinion in Pediatrics Log in or Register …
[HTML][HTML] PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution
Mosaicism is increasingly recognized as a cause of developmental disorders with the
advent of next-generation sequencing (NGS). Mosaic mutations of PIK3CA have been …
advent of next-generation sequencing (NGS). Mosaic mutations of PIK3CA have been …
PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib
A Pagliazzi, T Oranges, G Traficante, C Trapani… - Frontiers in …, 2021 - frontiersin.org
PIK3CA-related overgrowth spectrum (PROS) is an umbrella term referring to various clinical
entities, which share the same pathogenetic mechanism. These conditions are caused by …
entities, which share the same pathogenetic mechanism. These conditions are caused by …
Cancer-associated PIK3CA mutations in overgrowth disorders
PIK3CA is one of the most commonly mutated genes in solid cancers. PIK3CA mutations are
also found in benign overgrowth syndromes, collectively known as PIK3CA-related …
also found in benign overgrowth syndromes, collectively known as PIK3CA-related …
Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies
KM Keppler‐Noreuil, VER Parker… - American Journal of …, 2016 - Wiley Online Library
The phosphatidylinositol‐3‐kinase (PI3K)/AKT/mTOR signaling pathway plays an essential
role in regulation of normal cell growth, metabolism, and survival. Somatic activating …
role in regulation of normal cell growth, metabolism, and survival. Somatic activating …
The onset of PI3K‐related vascular malformations occurs during angiogenesis and is prevented by the AKT inhibitor miransertib
P Kobialka, H Sabata, O Vilalta, L Gouveia… - EMBO Molecular …, 2022 - embopress.org
Low‐flow vascular malformations are congenital overgrowths composed of abnormal blood
vessels potentially causing pain, bleeding and obstruction of different organs. These …
vessels potentially causing pain, bleeding and obstruction of different organs. These …