A calcium transport mechanism for atrial fibrillation in Tbx5-mutant mice

W Dai, B Laforest, L Tyan, KM Shen, RD Nadadur… - Elife, 2019 - elifesciences.org
Risk for Atrial Fibrillation (AF), the most common human arrhythmia, has a major genetic
component. The T-box transcription factor TBX5 influences human AF risk, and adult-specific …

An atrial fibrillation-associated regulatory region modulates cardiac Tbx5 levels and arrhythmia susceptibility

FM Bosada, K van Duijvenboden, AE Giovou… - Elife, 2023 - elifesciences.org
Heart development and rhythm control are highly Tbx5 dosage-sensitive. TBX5
haploinsufficiency causes congenital conduction disorders, whereas increased expression …

TBX5 mutations contribute to early-onset atrial fibrillation in Chinese and Caucasians

JF Ma, F Yang, SN Mahida, L Zhao… - Cardiovascular …, 2016 - academic.oup.com
Aims Atrial fibrillation (AF) is a common arrhythmia with an important heritable aspect. The
genetic factors underlying AF have not been fully elucidated. Methods and results We …

Lethal arrhythmias in Tbx3-deficient mice reveal extreme dosage sensitivity of cardiac conduction system function and homeostasis

DU Frank, KL Carter, KR Thomas… - Proceedings of the …, 2012 - National Acad Sciences
TBX3 is critical for human development: mutations in TBX3 cause congenital anomalies in
patients with ulnar-mammary syndrome. Data from mice and humans suggest multiple roles …

Preclinical evidence for the therapeutic value of TBX5 normalization in arrhythmia control

FS Rathjens, A Blenkle, LM Iyer, A Renger… - Cardiovascular …, 2021 - academic.oup.com
Aims Arrhythmias and sudden cardiac death (SCD) occur commonly in patients with heart
failure. We found T-box 5 (TBX5) dysregulated in ventricular myocardium from heart failure …

Tbx20 regulates a genetic program essential to adult mouse cardiomyocyte function

T Shen, I Aneas, N Sakabe… - The Journal of …, 2011 - Am Soc Clin Investig
Human mutations in or variants of TBX20 are associated with congenital heart disease,
cardiomyopathy, and arrhythmias. To investigate whether cardiac disease in patients with …

Atrial fibrillation risk loci interact to modulate Ca2+-dependent atrial rhythm homeostasis

B Laforest, W Dai, L Tyan, S Lazarevic… - The Journal of …, 2019 - Am Soc Clin Investig
Atrial fibrillation (AF), defined by disorganized atrial cardiac rhythm, is the most prevalent
cardiac arrhythmia worldwide. Recent genetic studies have highlighted a major heritable …

Patient-specific TBX5-G125R variant induces profound transcriptional deregulation and atrial dysfunction

AF van Ouwerkerk, FM Bosada, K van Duijvenboden… - Circulation, 2022 - Am Heart Assoc
Background: The pathogenic missense variant p. G125R in TBX5 (T-box transcription factor
5) causes Holt–Oram syndrome (also known as hand–heart syndrome) and early onset of …

[HTML][HTML] TBX5 loss-of-function mutation contributes to atrial fibrillation and atypical Holt-Oram syndrome

DF Guo, RG Li, F Yuan, HY Shi… - Molecular …, 2016 - spandidos-publications.com
Previous genome-wide association studies have demonstrated that single nucleotide
polymorphisms in T‑box (TBX) 5 are associated with increased susceptibility to atrial …

[HTML][HTML] Prevalence and spectrum of TBX5 mutation in patients with lone atrial fibrillation

ZC Wang, WH Ji, CW Ruan, XY Liu, XB Qiu… - … journal of medical …, 2016 - ncbi.nlm.nih.gov
Atrial fibrillation (AF), the most common type of cardiac rhythm disturbance encountered in
clinical practice, is associated with substantially increased morbidity and mortality …