Developmental basis of trachea-esophageal birth defects.
Developmental basis of trachea-esophageal birth defects.
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DOI：
10.1016/j.ydbio.2021.05.015
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发表时间：
2021-09
影响因子：
2.7
通讯作者：
Zorn AM
中科院分区：
文献类型：
--
作者：
Edwards NA;Shacham-Silverberg V;Weitz L;Kingma PS;Shen Y;Wells JM;Chung WK;Zorn AM
气管-食道畸形(TEDS)，包括食道闭锁(EA)、气管食管瘘(TEF)和喉-气管-食管裂(LTEC)，是一种危及生命的先天性畸形，其气管和食道的形成不正常。直到最近，这些疾病的发育基础以及气管和食道是如何从常见的胎儿前肠发育而来的还知之甚少。然而，随着人类遗传学、有机体和动物模型的重大进展，并将单细胞基因组学与高分辨率成像相结合，我们正在揭示协调气管-食道形态发生的分子和细胞机制，以及这些过程中的干扰如何导致出生缺陷。在这里，我们回顾了目前对TED的遗传和发育基础的理解。我们建议未来有机会将从动物和有机化合物中阐明的发育机制与人类遗传学和临床数据相结合，以深入了解这些异质性出生缺陷的基因-表型基础。最后，我们设想这将如何提高诊断，改善治疗，也许有一天，会导致新的组织替代疗法。
Trachea-esophageal defects (TEDs), including esophageal atresia (EA), tracheoesophageal fistula (TEF), and laryngeal-tracheoesophageal clefts (LTEC), are a spectrum of life-threatening congenital anomalies in which the trachea and esophagus do not form properly. Up until recently, the developmental basis of these conditions and how the trachea and esophagus arise from a common fetal foregut was poorly understood. However with significant advances in human genetics, organoids, and animal models, and integrating single cell genomics with high resolution imaging, we are revealing the molecular and cellular mechanisms that orchestrate tracheoesophageal morphogenesis and how disruption in these processes leads to birth defects. Here we review the current understanding of the genetic and developmental basis of TEDs. We suggest future opportunities for integrating developmental mechanisms elucidated from animals and organoids with human genetics and clinical data to gain insight into the genotype-phenotype basis of these heterogeneous birth defects. Finally, we envision how this will enhance diagnosis, improve treatment, and perhaps one day, lead to new tissue replacement therapy.
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DOI：
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发表时间：
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影响因子：
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