Related Experiment Video
Updated: Oct 3, 2025
06:41
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
13.8K
EPHB4 Mutation Suppresses PROX1 Expression and Disrupts Lymphatic Development in Neonatal Hydrops
Gangaram Akangire1,2, Heather Menden1, Sheng Xia1
1Division of Neonatology.
Pediatrics
|February 18, 2022
Summary
Screening infants with nonimmune hydrops fetalis for EPHB4 gene mutations is crucial. This aids in understanding lymphatic development and potential genetic causes.
Area of Science:
- Genetics
- Developmental Biology
- Pediatrics
Background:
- Nonimmune hydrops fetalis (NIHF) is a serious condition characterized by fluid accumulation in infants.
- Understanding the genetic underpinnings of NIHF is essential for diagnosis and management.
Observation:
- This case report focuses on an infant diagnosed with nonimmune hydrops fetalis.
- Genetic analysis was performed to investigate potential causative mutations.
Findings:
- Mutations in the EPHB4 gene were identified.
- EPHB4 plays a critical role in lymphatic system development.
Implications:
- Screening for EPHB4 mutations should be considered in infants with NIHF.
- Identifying genetic factors can guide future research into lymphatic development disorders.
Related Concept Videos
01:22Role of Ephrin-Eph Signalling in Intestinal Stem Cell Renewal
2.3K
Erythropoietin-producing hepatocellular carcinoma receptor (Eph) and its ligand, Eph receptor-interacting protein (Ephrin) were first discovered in the human carcinoma cell line, hence the name. Ephrin-Eph interaction guides cells to reach their appropriate location in adult tissues. They also play an essential role in the immune system by helping in immune cell migration, adhesion, and activation. Based on their structure and function, Eph is divided into two classes — EphA and EphB.
2.3K
01:33Pleiotropy
41.4K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
41.4K
02:33Hedgehog Signaling Pathway
7.7K
The Hedgehog gene (Hh) was first discovered due to its control of the growth of disorganized, hair-like bristles phenotype in Drosophila, much like hedgehog spines. Hh plays a crucial role in the development of organs and the maintenance of homeostasis in both invertebrates and vertebrates. However, while Drosophila has only one Hh protein, mammals have multiple functional Hedgehog proteins - Sonic (Shh), Desert (Dhh), and Indian Hedgehog (Ihh). All of these homologous proteins have adapted to...
7.7K