[HTML][HTML] Genetic and genomics in congenital heart disease: a clinical review

A Saliba, ACV Figueiredo, JE Baroneza, JY Afiune… - Jornal de …, 2020 - SciELO Brasil
Objective: Discuss evidence referring to the genetic role in congenital heart diseases,
whether chromosomic alterations or monogenic diseases. Data source: LILACS, PubMed …

Design principles for synthetic control systems to engineer plants

T Bull, A Khakhar - Plant Cell Reports, 2023 - Springer
Key message Synthetic control systems have led to significant advancement in the study
and engineering of unicellular organisms, but it has been challenging to apply these tools to …

Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy

N Spielmann, G Miller, TI Oprea, CW Hsu… - Nature Cardiovascular …, 2022 - nature.com
Clinical presentation of congenital heart disease is heterogeneous, making identification of
the disease-causing genes and their genetic pathways and mechanisms of action …

TBX20 improves contractility and mitochondrial function during direct human cardiac reprogramming

Y Tang, S Aryal, X Geng, X Zhou, VG Fast, J Zhang… - Circulation, 2022 - Am Heart Assoc
Background: Direct cardiac reprogramming of fibroblasts into cardiomyocytes has emerged
as a promising strategy to remuscularize injured myocardium. However, it is insufficient to …

The Role of Tbx20 in Cardiovascular Development and Function

Y Chen, D Xiao, L Zhang, CL Cai, BY Li… - Frontiers in Cell and …, 2021 - frontiersin.org
Tbx20 is a member of the Tbx1 subfamily of T-box-containing genes and is known to play a
variety of fundamental roles in cardiovascular development and homeostasis as well as …

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 …

Common genetic variants contribute to risk of transposition of the great arteries

D Škorić-Milosavljević, R Tadros, FM Bosada… - Circulation …, 2022 - Am Heart Assoc
Rationale: Dextro-transposition of the great arteries (D-TGA) is a severe congenital heart
defect which affects approximately 1 in 4,000 live births. While there are several reports of D …

Understanding the molecular basis of cardiomyopathy

ML Bang, J Bogomolovas… - American Journal of …, 2022 - journals.physiology.org
Inherited cardiomyopathies are a major cause of mortality and morbidity worldwide and can
be caused by mutations in a wide range of proteins located in different cellular …

Genetics of congenital heart disease

Y Zhao, W Deng, Z Wang, Y Wang, H Zheng, K Zhou… - Clinica Chimica …, 2024 - Elsevier
During embryonic development, the cardiovascular system and the central nervous system
exhibit a coordinated developmental process through intricate interactions. Congenital heart …

Epigenomic and transcriptomic dynamics during human heart organogenesis

J VanOudenhove, TN Yankee, A Wilderman… - Circulation …, 2020 - Am Heart Assoc
Rationale: There is growing evidence that common variants and rare sequence alterations
in regulatory sequences can result in birth defects or predisposition to disease. Congenital …