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耳肾发育的共同特征——对耳肾综合征的启示。

Shared features in ear and kidney development - implications for oto-renal syndromes.

机构信息

Centre for Craniofacial and Regenerative Biology, King's College London, London SE1 9RT, UK.

出版信息

Dis Model Mech. 2024 Feb 1;17(2). doi: 10.1242/dmm.050447. Epub 2024 Feb 14.

DOI:10.1242/dmm.050447
PMID:38353121
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10886756/
Abstract

The association between ear and kidney anomalies has long been recognized. However, little is known about the underlying mechanisms. In the last two decades, embryonic development of the inner ear and kidney has been studied extensively. Here, we describe the developmental pathways shared between both organs with particular emphasis on the genes that regulate signalling cross talk and the specification of progenitor cells and specialised cell types. We relate this to the clinical features of oto-renal syndromes and explore links to developmental mechanisms.

摘要

耳部和肾脏异常之间的关联早已为人所知。然而,其潜在机制鲜为人知。在过去的二十年中,人们对内耳和肾脏的胚胎发育进行了广泛的研究。在这里,我们描述了这两个器官之间共享的发育途径,特别强调了调节信号转导对话以及祖细胞和特化细胞类型的基因。我们将这与耳肾综合征的临床特征联系起来,并探讨与发育机制的联系。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce80/10886756/9f3236b9e23d/dmm-17-050447-g3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce80/10886756/a4d47f1b96f8/dmm-17-050447-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce80/10886756/d185e29490f3/dmm-17-050447-g2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce80/10886756/9f3236b9e23d/dmm-17-050447-g3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce80/10886756/a4d47f1b96f8/dmm-17-050447-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce80/10886756/d185e29490f3/dmm-17-050447-g2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce80/10886756/9f3236b9e23d/dmm-17-050447-g3.jpg

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The Foxi3 transcription factor is necessary for the fate restriction of placodal lineages at the neural plate border.Foxi3 转录因子对于神经板边缘颅顶外胚层谱系命运的限制是必需的。
Development. 2023 Oct 1;150(19). doi: 10.1242/dev.202047. Epub 2023 Oct 9.
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A gene mutation that causes incorrect splicing and HDR syndrome: a case study and literature review.
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