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Biochemistry, Genetics and Molecular Biology · Research topic

Open research questions in Congenital heart defects research

135 unresolved questions extracted from the limitations and future-work sections of 319 Congenital heart defects research papers in our library. Each links back to the study that raised it.

What the literature leaves open

  • Investigate the role of other transcription factors in fibroblast migration, - Investigate the effects of Gata4 deletion on other cell types, - Examine the effects of different substrate stiffness on fibroblast migration, - Investigate the role of GATA4 in other physiological and pathological processes

    Gata4 regulates fibroblast migration in a fibroblast-source-dependent manner under physiological matrix stiffness · 2026 · DOI

  • The paper identifies a gap in understanding the transcriptional mechanisms regulating fibroblast migration under physiological mechanical conditions. The study highlights the need to investigate the role of GATA4 in regulating fibroblast migration in a tissue-of-origin-dependent manner.

    Gata4 regulates fibroblast migration in a fibroblast-source-dependent manner under physiological matrix stiffness · 2026 · DOI

  • Further investigation of the role of ANGPTL2 and CP in atrial fibrillation, - Exploration of the potential therapeutic applications of targeting these genes

    ANGPTL2 and CP define complementary circadian-associated signals in atrial fibrillation: integrative transcriptomics and external validation · 2026 · DOI

  • The circadian-associated molecular characteristics of the diseased human atrium remain incompletely understood. The interactive effects of electrical, structural, inflammatory, metabolic, and autonomic remodeling in AF pathophysiology are not fully elucidated.

    ANGPTL2 and CP define complementary circadian-associated signals in atrial fibrillation: integrative transcriptomics and external validation · 2026 · DOI

  • Investigating the role of Smarce1 in cardiac regeneration and repair, - Exploring the potential of Smarce1 as a therapeutic target for cardiac diseases, - Studying the molecular mechanisms underlying Smarce1-mediated regulation of CM proliferation

    Smarce1 fine-tunes cardiomyocyte proliferation in the embryonic zebrafish heart · 2025 · DOI

  • The molecular mechanisms regulating cardiomyocyte proliferation during heart development are not fully understood. The role of Smarce1 in cardiomyocyte proliferation is not previously known.

    Smarce1 fine-tunes cardiomyocyte proliferation in the embryonic zebrafish heart · 2025 · DOI

  • understanding the mechanisms behind the cause and/or effect of EndMT to eventually target EndMT, - novel therapeutic strategies for treating aberrant EndMT-associated diseases

    Endothelial-to-Mesenchymal Transition in Cardiovascular Pathophysiology · 2024 · DOI

  • Disruption of large-scale functional connectivity in 22q11 deletion syndrome (22q11DS) has been widely reported, but the biological factors driving these changes remain unclear.

    Synaptic-dependent developmental dysconnectivity in 22q11.2 deletion syndrome · 2025 · DOI

  • Haploinsufficiency for GATA6 is associated with congenital heart disease (CHD) with variable comorbidity of pancreatic or diaphragm defects, although the etiology of disease is not well understood.

    GATA6 regulates WNT and BMP programs to pattern precardiac mesoderm during the earliest stages of human cardiogenesis · 2025 · DOI

  • Background Copy number variants (CNVs) contribute to 3% to 10% of isolated congenital heart disease (CHD) cases, yet their pathogenic roles remain unclear.

    Identification of Long Noncoding RNA Candidate Disease Genes Associated With Clinically Reported Copy Number Variants in Congenital Heart Disease · 2025 · DOI

  • However, this approach is limited by a lack of precise functional and molecular pathways, causes and/or effects, and a lack of robust animal models and human data about EndMT in different diseases.

    Endothelial-to-Mesenchymal Transition in Cardiovascular Pathophysiology · 2024 · DOI

  • However, the underlying molecular mechanisms of EMPA’s cardio-protective effects remain elusive.

    Empagliflozin improves pressure-overload-induced cardiac hypertrophy by inhibiting the canonical Wnt/β-catenin signaling pathway · 2024 · DOI

  • While numerous molecular pathways have been implicated in this fate choice, it remains unclear how they give rise to a repeating pattern.

    Self-organized BMP signaling dynamics underlie the development and evolution of digit segmentation patterns in birds and mammals · 2024 · DOI

  • However, the molecular pathways underlying the development of EndMT remain incompletely understood.

    H3K27Me3 abundance increases fibrogenesis during endothelial-to-mesenchymal transition via the silencing of microRNA-29c · 2024 · DOI

  • Adult mammalian hearts display a limited regeneration capacity, but it is insufficient to allow complete myocardial recovery.

    ZebraReg—a novel platform for discovering regulators of cardiac regeneration using zebrafish · 2024 · DOI

  • Since the chromosomal profile of CHD has not been analyzed in a large sample size, we aimed to summarize the clinical features, cytogenetics findings, and pregnancy outcomes of CHD to provide a clinical reference for prenatal diagnosis.

    Clinical features and genetic analysis of 471 cases of fetal congenital heart disease · 2024 · DOI

  • However, due to the limited types of detectable metabolites in previous studies, findings on lipid metabolic and CHDs are still inconsistent, and the possible mechanism of CHDs remains unclear.

    Biomarkers for congenital ventricular outflow tract malformations based on maternal serum lipid metabolomics analysis · 2024 · DOI

  • , MIP28) hearts during the 1-week period after MI induction, which suggests that further investigation of the VEC3 cluster could identify new targets for improving myocardial recovery after MI.

    Single-cell RNA sequencing analysis identifies one subpopulation of endothelial cells that proliferates and another that undergoes the endothelial-mesenchymal transition in regenerating pig hearts · 2024 · DOI

  • How metabolic reprogramming regulates cardiomyocyte proliferation is not clearly defined.

    Metabolic Reprogramming: A Byproduct or a Driver of Cardiomyocyte Proliferation? · 2024 · DOI

  • However, there are no well-established protocols to induce hiPSCs to differentiate into functional heart valve cells, and the networks that mediate the differentiation have not been fully elucidated.

    Directed Differentiation of Human Induced Pluripotent Stem Cells to Heart Valve Cells · 2024 · DOI

  • The pathophysiological mechanisms regulating YAP subcellular localization after myocardial infarction remain poorly defined.

    Microtubules Sequester Acetylated YAP in the Cytoplasm and Inhibit Heart Regeneration · 2024 · DOI

  • Nevertheless, how the assembly of the DGC coordinates with the formation and maintenance of T-tubules under physiological and pathological conditions remains unclear.

    Ptpn23 Controls Cardiac T-Tubule Patterning by Promoting the Assembly of Dystrophin-Glycoprotein Complex · 2024 · DOI

  • However, MBNL1 deficiency was insufficient to promote regeneration in the adult heart because of cell cycle checkpoint activation.

    MBNL1 Regulates Programmed Postnatal Switching Between Regenerative and Differentiated Cardiac States · 2024 · DOI

  • However, very little is known about CMDD as a defined cardiomyocyte cell state in transition.

    Asparagine Synthetase Marks a Distinct Dependency Threshold for Cardiomyocyte Dedifferentiation · 2024 · DOI

  • However, the mechanisms and how regulatory roadblocks are removed with specific developmental signaling pathways remain unclear.

    Genome-Wide CRISPR Screen Identifies an NF2-Adherens Junction Mechanistic Dependency for Cardiac Lineage · 2024 · DOI

Most-cited papers in Congenital heart defects research

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135 open questions have been extracted from the limitations and future-work passages of 319 Congenital heart defects research papers in our 4.5M-paper local library. Each one below links back to the study that raised it, so you can read the original claim in context.

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