Laterality, heterotaxy, and isolated congenital heart defects : The genetic basis of the segmental nature of the heart.

IF 10.4 1区生物学 Q1 GENETICS & HEREDITY

Genome Medicine Pub Date : 2024-08-13 DOI:10.1186/s13073-024-01375-8

Carolina Putotto, Flaminia Pugnaloni, Marta Unolt, Giulio Calcagni, Paolo Versacci, Bruno Marino

引用次数: 0

Abstract

To date, the role of NODAL in normal and abnormal L-R asymmetry has been well established. In a recent paper, mutations of this gene have been reported in heterotaxy but also in transposition with D- or L-ventricular loop. The effects of NODAL and other laterality genes can be recognized separately in all three cardiac segments: for topology and septation of the atria, for ventricular looping, and for spiralization and alignment of the great arteries.

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侧位、异位和孤立性先天性心脏缺陷：心脏节段性的遗传基础。

迄今为止，NODAL 在正常和异常 L-R 不对称中的作用已得到充分证实。在最近的一篇论文中，该基因的突变不仅出现在异位症中，也出现在伴有 D 室环或 L 室环的转位中。NODAL 和其他侧位基因的作用可在所有三个心脏节段中分别体现出来：对心房的拓扑和隔膜、心室环以及大动脉的螺旋化和排列的影响。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Genome Medicine GENETICS & HEREDITY-

CiteScore

20.80

自引率

0.80%

发文量

128

审稿时长

6-12 weeks

期刊介绍： Genome Medicine is an open access journal that publishes outstanding research applying genetics, genomics, and multi-omics to understand, diagnose, and treat disease. Bridging basic science and clinical research, it covers areas such as cancer genomics, immuno-oncology, immunogenomics, infectious disease, microbiome, neurogenomics, systems medicine, clinical genomics, gene therapies, precision medicine, and clinical trials. The journal publishes original research, methods, software, and reviews to serve authors and promote broad interest and importance in the field.