SMAD4 loss-of-function mutation predisposes to congenital heart disease

Y Wang, YJ Xu, CX Yang, RT Huang, S Xue… - European Journal of …, 2023 - Elsevier
Congenital heart disease (CHD) represents the most frequent developmental deformity in
human beings and accounts for substantial morbidity and mortality worldwide. Accumulating …

[HTML][HTML] Identification of SOX18 as a New Gene Predisposing to Congenital Heart Disease

HY Shi, MS Xie, CX Yang, RT Huang, S Xue, XY Liu… - Diagnostics, 2022 - mdpi.com
Congenital heart disease (CHD) is the most frequent kind of birth deformity in human beings
and the leading cause of neonatal mortality worldwide. Although genetic etiologies …

[HTML][HTML] Discovery of GJC1 (Cx45) as a New Gene Underlying Congenital Heart Disease and Arrhythmias

YJ Li, J Wang, WG Ye, XY Liu, L Li, XB Qiu, H Chen… - Biology, 2023 - mdpi.com
Simple Summary Congenital heart disease is associated with substantial mortality and
morbidity as well as socioeconomic burden, and increasing research underscores the …

[HTML][HTML] Identification of BMP10 as a Novel Gene Contributing to Dilated Cardiomyopathy

JN Gu, CX Yang, YY Ding, Q Qiao, RM Di, YM Sun… - Diagnostics, 2023 - mdpi.com
Dilated cardiomyopathy (DCM), characterized by left ventricular or biventricular enlargement
with systolic dysfunction, is the most common type of cardiac muscle disease. It is a major …

Somatic GATA4 mutation contributes to tetralogy of Fallot

P Abhinav, YJ Li, RT Huang… - Experimental and …, 2024 - spandidos-publications.com
Tetralogy of Fallot (TOF) is the most prevalent cyanotic congenital heart pathology and
causes infant morbidity and mortality worldwide. GATA‑binding protein 4 (GATA4) serves as …

[HTML][HTML] Discovery of BMP10 as a new gene underpinning congenital heart defects

BB Dong, YJ Li, XY Liu, RT Huang… - American Journal of …, 2024 - ncbi.nlm.nih.gov
Objective: Aggregating evidence convincingly establishes the predominant genetic basis
underlying congenital heart defects (CHD), though the heritable determinants contributing to …

[HTML][HTML] Discovery and functional investigation of BMP4 as a new causative gene for human congenital heart disease

Z Wang, XY Liu, CX Yang, HM Zhou, YJ Li… - American Journal of …, 2024 - ncbi.nlm.nih.gov
Objective: Aggregating evidence highlights the strong genetic basis underpinning
congenital heart disease (CHD). Here BMP4 was chosen as a prime candidate gene …

The evaluation of the SMAD1 rs1016792 polymorphism and gene expression on pulmonary hypertension due to congenital heart disease in children: a preliminary …

AS Kimyon, A Çetinkaya… - … Nucleotides & Nucleic …, 2024 - Taylor & Francis
Abstract Smad Family Member (SMAD), a protein family responsible for transducing the
signal induced by TGF-β into the nucleus, is thought to play a role in the pathology of many …

Bioinformatics Analysis of next generation sequencing data for Risk Prediction in Patients with Type 1 diabetes mellitus

B Vastrad, C Vastrad - bioRxiv, 2022 - biorxiv.org
Type 1 diabetes mellitus (T1DM) comprise the most common forms of autoimmune disease.
The aim of this investigation was to apply a bioinformatics approach to reveal related …