[HTML][HTML] Developmental basis of trachea-esophageal birth defects

NA Edwards, V Shacham-Silverberg, L Weitz… - Developmental …, 2021 - Elsevier
Abstract Trachea-esophageal defects (TEDs), including esophageal atresia (EA),
tracheoesophageal fistula (TEF), and laryngeal-tracheoesophageal clefts (LTEC), are a …

Integrative Analysis of m6A Regulator-Mediated RNA Methylation Modification Patterns and Immune Characteristics in Lupus Nephritis

H Zhao, S Pan, J Duan, F Liu, G Li, D Liu… - Frontiers in Cell and …, 2021 - frontiersin.org
Background There is growing evidence to demonstrate that the epigenetic regulation of
immune characteristics, especially for N6-methyladenosine (m6A) RNA methylation …

Recent Advances in the Genetic Pathogenesis, Diagnosis, and Management of Esophageal Atresia and Tracheoesophageal Fistula: A Review

D O'Shea, N Schmoke, C Porigow… - Journal of Pediatric …, 2023 - journals.lww.com
Infants born with esophageal atresia and tracheoesophageal fistula, a complex congenital
malformation occurring in 1/2500–4000 live births, may suffer threats to their cardiac …

A brief analysis on clinical severity of mandibulofacial dysostosis Guion-Almeida type

ZS Ulhaq, GV Soraya, LA Istifiani… - The Cleft Palate …, 2024 - journals.sagepub.com
Objective Genetic variants in EFTUD2 were proven to influence variable phenotypic
expressivity in mandibulofacial dysostosis Guion-Almeida type (MFDGA) or mandibulofacial …

Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas

G Zhong, P Ahimaz, NA Edwards, JJ Hagen… - Human Genetics and …, 2022 - cell.com
Esophageal atresias/tracheoesophageal fistulas (EA/TEF) are rare congenital anomalies
caused by aberrant development of the foregut. Previous studies indicate that rare or de …

Primary cilia are critical for tracheoesophageal septation

LA Fitzsimons, E Tasouri, MA Willaredt… - Developmental …, 2024 - Wiley Online Library
Introduction Primary cilia play pivotal roles in the patterning and morphogenesis of a wide
variety of organs during mammalian development. Here we examined murine foregut …

iPSCs derived from esophageal atresia patients reveal SOX2 dysregulation at the anterior foregut stage

S Raad, A David, M Sagniez, B Paré… - Disease Models & …, 2022 - journals.biologists.com
ABSTRACT A series of well-regulated cellular and molecular events result in the
compartmentalization of the anterior foregut into the esophagus and trachea. Disruption of …

Single-cell analysis reveals the spatial-temporal expression of genes associated with esophageal malformations

C Maj, A Eberts, J Schumacher, P Dasmeh - Scientific Reports, 2024 - nature.com
Understanding the molecular mechanisms of congenital diseases is challenging due to their
occurrence within specific developmental stages. Esophageal malformations are examples …

Plerixafor and resatorvid inhibit hepatitis B virus in vitro by upregulating elongation factor Tu GTP-binding domain containing 2

J Cai, Y Li, P Hu, R Xu, H Yuan, W Zhang… - Frontiers in Cellular …, 2023 - frontiersin.org
Background An increase in the demand for a functional cure has accelerated research on
new methods of therapy for chronic hepatitis B, which is mainly focused on restoring antiviral …

Statistical models of the genetic etiology of congenital heart disease

G Zhong, Y Shen - Current opinion in genetics & development, 2022 - Elsevier
Congenital heart disease (CHD) is a collection of anatomically and clinically heterogeneous
structure anomalies of heart at birth. Finding genetic causes of CHD can not only shed light …