Article

A Novel Somatic Frameshift Mutation in PIK3CA Causes CLOVES Syndrome by Provoking PI3K/AKT/mTOR Pathway

2021-02-16

Abstract excerpt

<h4>Background: </h4> CLOVES syndrome(OMIM#612918) is a rare overgrowth disorder resulted from mosaic gain-of-function mutations in the PIK3CA gene. All the reported CLOVES-associated PIK3CA mutations are missense mutations affecting certain residues. To investigate underlying mutation and its pathogenicity in a patient with CLOVES syndrome and to evaluate the inhibitory effect of ARQ092, one of the PI3K/AKT/mTOR...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 8470a1b9-8108-5c80-af10-a59cbb8c6781
DOI: 10.21203/rs.3.rs-201234/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A Novel Somatic Frameshift Mutation in PIK3CA Causes CLOVES Syndrome by Provoking PI3K/AKT/mTOR PathwayDOI 10.21203/rs.3.rs-201234/v1Read

Somatic frameshift mutation in PIK3CA causes CLOVES syndrome by provoking PI3K/AKT/mTOR pathwaySemantic proximity Read

PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With AlpelisibSemantic proximity Read

Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association.Semantic proximity Read

A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations.Semantic proximity Read

Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS).Semantic proximity Read

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome.Semantic proximity Read

Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations.Semantic proximity Read

Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth.Semantic proximity Read

PIK3CA-Related Disorders: From Disease Mechanism to Evidence-Based Treatments.Semantic proximity Read

Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel–Trenaunay syndrome in an Asian populationSemantic proximity Read

Overgrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositol 3-Kinase/AKT/Mammalian Target of Rapamycin Pathway.Semantic proximity Read

Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.Semantic proximity Read