Associated Papers
Single-nuclei multiomics analysis identifies abnormal cardiomyocytes in a murine model of cardiac development.
Leonard R et al.
Nature Communications, 2025
In Silico Characterization of Pathogenic Homeodomain Missense Mutations in the PITX2 Gene.
Vetriselvan Y et al.
Biochemical Genetics, 2025
PITX2 gain-of-function mutation associated with atrial fibrillation alters mitochondrial activity in human iPSC atrial-like cardiomyocytes.
Benzoni P et al.
Frontiers in Physiology, 2023
Genetic associations of protein-coding variants in human disease.
Sun BB et al.
Nature, 2022
35197637 (PubMed )
Supplement: 41586_2022_4394_MOESM1_ESM.pdf
Understanding PITX2-Dependent Atrial Fibrillation Mechanisms through Computational Models.
Bai J et al.
International Journal of Molecular Sciences, 2021
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
A Novel PITX2c Gain-of-Function Mutation, p.Met207Val, in Patients With Familial Atrial Fibrillation.
Mechakra A et al.
The American Journal of Cardiology, 2019
Proarrhythmia in the p.Met207Val PITX2c-Linked Familial Atrial Fibrillation-Insights From Modeling.
Bai J et al.
Frontiers in Physiology, 2019
Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms.
Seifi M et al.
Plos One, 2018
Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a PITX2 p.M200V mutation.
Mora C et al.
Stem Cell Research, 2017
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