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口腔颌面裂组织中、和的评估。

The Evaluation of , and in Orofacial Cleft Tissue.

作者信息

Goida Jana, Pilmane Mara

机构信息

Institute of Anatomy and Anthropology, Riga Stradins University, LV-1010 Riga, Latvia.

出版信息

Children (Basel). 2022 Apr 6;9(4):516. doi: 10.3390/children9040516.

Abstract

Although cleft lip with or without cleft palate (CL/P) is one of the most common congenital anomalies worldwide, the morphopathogenesis of non-syndromic orofacial clefts is still unclear. Many candidate genes have been proposed to play a causal role; however, only a few have been confirmed, leaving many still to be assessed. Taking into account the significance of , and in embryogenesis, the aim of this work was to detect and compare the three candidate genes in cleft-affected lip and palatine tissue. Ten soft tissue samples were taken during cheiloplasty and veloplasty. The signals of the candidate genes were visualized using chromogenic in situ hybridization and analyzed using a semi-quantitative method. No statistically important difference in the distribution of , and between neither the patients' lip and vomer mucosa nor the control group was observed. Statistically significant very strong and strong correlations were found between genes in the lip and palatine tissue. The expression of , and in cleft-affected lip and palatine tissue seems to be highly individual. Numerous intercorrelations between the genes do not exclude their role in the possible complex morphopathogenesis of orofacial clefts.

摘要

尽管唇裂伴或不伴腭裂(CL/P)是全球最常见的先天性畸形之一,但非综合征性口面部裂隙的形态发病机制仍不清楚。许多候选基因被认为起因果作用;然而,只有少数得到证实,许多仍有待评估。考虑到[此处原文缺失部分内容]、[此处原文缺失部分内容]和[此处原文缺失部分内容]在胚胎发生中的重要性,本研究的目的是检测和比较唇裂和腭裂组织中的三个候选基因。在唇裂修复术和腭裂修复术中采集了10个软组织样本。使用显色原位杂交观察候选基因的信号,并采用半定量方法进行分析。在患者的唇部和犁骨黏膜之间以及与对照组之间,[此处原文缺失部分内容]、[此处原文缺失部分内容]和[此处原文缺失部分内容]的分布均未观察到统计学上的显著差异。在唇部和腭部组织的基因之间发现了具有统计学意义的非常强和强的相关性。[此处原文缺失部分内容]、[此处原文缺失部分内容]和[此处原文缺失部分内容]在唇裂和腭裂组织中的表达似乎高度个体化。基因之间的许多相互关系并不排除它们在口面部裂隙可能的复杂形态发病机制中的作用。

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