The heart field transcriptional landscape at single-cell resolution
RG Kelly - Developmental Cell, 2023 - cell.com
Organogenesis requires the orchestrated development of multiple cell lineages that
converge, interact, and specialize to generate coherent functional structures, exemplified by …
converge, interact, and specialize to generate coherent functional structures, exemplified by …
Artificial intelligence-based approaches for the detection and prioritization of genomic mutations in congenital surgical diseases
Genetic mutations are critical factors leading to congenital surgical diseases and can be
identified through genomic analysis. Early and accurate identification of genetic mutations …
identified through genomic analysis. Early and accurate identification of genetic mutations …
Tetralogy of Fallot: variants of MYH6 gene promoter and cellular functional analyses
JY Zuo, HX Chen, Q Yang, ZG Liu, GW He - Pediatric Research, 2024 - nature.com
Abstract Background Tetralogy of Fallot (TOF) is a common form of congenital heart disease.
The MYH6 gene has important effects on cardiovascular growth and development. Methods …
The MYH6 gene has important effects on cardiovascular growth and development. Methods …
Evaluating High‐Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses
MMC Chui, CCY Mak, MHC Yu, SYY Wong… - Journal of the …, 2023 - Am Heart Assoc
Background In nonsyndromic conotruncal cardiac defects, the use of next‐generation
sequencing for clinical diagnosis is increasingly adopted, but gene‐disease associations in …
sequencing for clinical diagnosis is increasingly adopted, but gene‐disease associations in …
A novel homozygous splice donor variant in the LRPPRC gene causing Leigh syndrome with epilepsy, a French-Canadian disorder in a Saudi family: case report
Background The mitochondria are a cellular power house. Tissues are involved in frequent
energy consumption, and any failure or irregularity in the continuous energy production …
energy consumption, and any failure or irregularity in the continuous energy production …
A CAMK2B variant associated with tetralogy of Fallot, developmental delay, and growth retardation
Y Horii, Y Kuroda, Y Saito, Y Enomoto, T Naruto… - European Journal of …, 2023 - Elsevier
CAMK2B encodes the beta-subunit of calcium/calmodulin-dependent protein kinase II
(CAMKII), which is expressed mainly in the brain. Variants of CAMK2A and CAMK2B cause …
(CAMKII), which is expressed mainly in the brain. Variants of CAMK2A and CAMK2B cause …
On the involvement of the second heart field in congenital heart defects
C Guijarro, RG Kelly - Comptes …, 2024 - comptes-rendus.academie-sciences …
Congenital heart defects (CHD) affect 1 in 100 live births and result from defects in cardiac
development. Growth of the early heart tube occurs by the progressive addition of second …
development. Growth of the early heart tube occurs by the progressive addition of second …
Case Report: Tetralogy of Fallot in a Chinese Family Caused by a Novel Missense Variant of MYOM2
J Wang, C Wang, H Xie, X Feng, L Wei… - Frontiers in …, 2022 - frontiersin.org
Background Rare genetic variants have been identified to be important contributors to the
risk of Tetralogy of Fallot (TOF), the most common cyanotic congenital heart disease (CHD) …
risk of Tetralogy of Fallot (TOF), the most common cyanotic congenital heart disease (CHD) …
Genetic insights into the Tetralogy of Fallot
CA Moreno-Castellanos… - GSC Advanced Research …, 2023 - gsconlinepress.com
Tetralogy of Fallot (TOF),(OMIM# 187500) one of the first known congenital heart disease
(CHDs) with a rising frequency of adult patients, is a suitable paradigm for our analysis given …
(CHDs) with a rising frequency of adult patients, is a suitable paradigm for our analysis given …