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4 articles related to "Mosaic Mutations"

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Articles

Review

Published on 03 Nov 2022

GNAQ mutations drive port wine birthmark-associated Sturge-Weber syndrome: A review of pathobiology, therapies, and current models

in Brain Health and Clinical Neuroscience

William K. Van Trigt
Kristen M. Kelly
Christopher C. W. Hughes

Frontiers in Human Neuroscience

doi 10.3389/fnhum.2022.1006027

15,099 views
24 citations

Original Research

Published on 18 Aug 2025

Endothelial GNAQ p.R183Q mutation confers hemoporfin-mediated photodynamic therapy resistance and drives pathological angiogenesis via the angiopoietin-2/TIE2/PI3K/AKT pathway

in Cell Death and Survival

Lu Liu
Linmei Wang
Jiaxin Luo
Jiayun Yu
Liang Xie
Yang Liu
Hong Xu
Fan Hu
Hanmin Liu

Frontiers in Cell and Developmental Biology

doi 10.3389/fcell.2025.1622961

2,419 views
1 citation

Original Research

Published on 05 Nov 2021

Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing

in Molecular Diagnostics and Therapeutics

Alice Brinckmann Oliveira Netto
Ana Carolina Brusius-Facchin
Sandra Leistner-Segal
Francyne Kubaski
Juliana Josahkian
Roberto Giugliani

Frontiers in Molecular Biosciences

doi 10.3389/fmolb.2021.789350

4,505 views
3 citations

Case Report

Published on 12 Aug 2020

Complex Mosaicism of Two Distinct Mutations in a Female Patient With KCNA2-Related Encephalopathy: A Case Report

in Genetics of Common and Rare Diseases

Pan Gong
Xianru Jiao
Yuehua Zhang
Zhixian Yang

Frontiers in Genetics

doi 10.3389/fgene.2020.00911

4,405 views
5 citations