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一种纯合的 Dab1 是一种潜在的新型常染色体隐性遗传小鼠肾脏和泌尿道先天异常的原因。

A Homozygous Dab1 Is a Potential Novel Cause of Autosomal Recessive Congenital Anomalies of the Mice Kidney and Urinary Tract.

机构信息

Department of Anatomy, Histology and Embryology, University of Split School of Medicine, 21000 Split, Croatia.

Department of Medical Genetics, School of Medicine, University of Mostar, 88000 Mostar, Bosnia and Herzegovina.

出版信息

Biomolecules. 2021 Apr 20;11(4):609. doi: 10.3390/biom11040609.

DOI:10.3390/biom11040609
PMID:33924028
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8073787/
Abstract

This study aimed to explore morphology changes in the kidneys of ( mice, as well as expression patterns of reelin, NOTCH2, LC3B, and cleaved caspase3 (CASP3) proteins, as potential determinants of normal kidney formation and function. We assumed that functional inactivation may cause disorder in a wide spectrum of congenital anomalies of the kidney and urinary tract (CAKUT). Animals were sacrificed at postnatal days P4, P11, and P14. Paraffin-embedded kidney tissues were sectioned and analyzed by immunohistochemistry using specific antibodies. Kidney specimens were examined by bright-field, fluorescence, and electron microscopy. Data were analyzed by two-way ANOVA and t-tests. We noticed that kidneys were smaller in size with a reduced diameter of nephron segments and thinner cortex. TEM microphotographs revealed foot process effacement in the glomeruli (G) of mice, whereas aberrations in the structure of proximal convoluted tubules (PCT) and distal convoluted tubules (DCT) were not observed. A significant increase in reelin expression, NOTCH2, LC3B and cleaved CASP3 proteins was observed in the glomeruli of mice. Renal hypoplasia in conjunction with foot process effacement and elevation in the expression of examined proteins in the glomeruli revealed CAKUT phenotype and loss of functional kidney tissue of

摘要

本研究旨在探讨(小鼠肾脏的形态学变化,以及 reelin、NOTCH2、LC3B 和 cleaved caspase3(CASP3)蛋白的表达模式,作为正常肾脏形成和功能的潜在决定因素。我们假设功能失活可能导致广泛的先天性肾和尿路异常(CAKUT)。动物在出生后第 4、11 和 14 天被处死。用特定抗体通过免疫组织化学对石蜡包埋的肾组织进行切片和分析。使用明场、荧光和电子显微镜检查肾脏标本。数据通过双因素方差分析和 t 检验进行分析。我们注意到(小鼠的肾脏体积较小,肾单位节段的直径减小,皮质变薄。TEM 显微照片显示(小鼠的肾小球足突消失,而近端曲管(PCT)和远端曲管(DCT)的结构异常并未观察到。(小鼠肾小球中 reelin、NOTCH2、LC3B 和 cleaved CASP3 蛋白的表达显著增加。肾小球足突消失和所检查蛋白表达升高与肾发育不全相结合,揭示了 CAKUT 表型和功能性肾组织丧失。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/36b4/8073787/c7d640e8e84a/biomolecules-11-00609-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/36b4/8073787/fa91f14bf51f/biomolecules-11-00609-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/36b4/8073787/e5a921d5b628/biomolecules-11-00609-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/36b4/8073787/486479a3fbb5/biomolecules-11-00609-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/36b4/8073787/1a455a01e3c0/biomolecules-11-00609-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/36b4/8073787/c7d640e8e84a/biomolecules-11-00609-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/36b4/8073787/fa91f14bf51f/biomolecules-11-00609-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/36b4/8073787/e5a921d5b628/biomolecules-11-00609-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/36b4/8073787/486479a3fbb5/biomolecules-11-00609-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/36b4/8073787/1a455a01e3c0/biomolecules-11-00609-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/36b4/8073787/c7d640e8e84a/biomolecules-11-00609-g005.jpg

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