Craniofacial Development and Growth in Polycystic Kidney Disease

Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder characterized by the presence of multiple cysts in kidneys. ADPKD has been shown to be caused by mutations in the genes of PKD1 and PKD2, encoding polycystin-1 (PC1) and polycystin-2 (PC2), respectively. Polycystins are lo...

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Formato: Online
Idioma:inglês
Publicado em: Exon Publications 2024
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collection Directory of Open Access Books
description Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder characterized by the presence of multiple cysts in kidneys. ADPKD has been shown to be caused by mutations in the genes of PKD1 and PKD2, encoding polycystin-1 (PC1) and polycystin-2 (PC2), respectively. Polycystins are localized in primary cilia that play roles in multiple biological processes including mechanoreception, Ca2+ influx and cell signalling pathways. Primary cilia are known to play important roles in regulating craniofacial development and growth. In this chapter, we summarize the function of Pkd1 and Pkd2 in controlling mouse craniofacial development and growth, and discuss PKD-associated molecular mechanisms.
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spelling doab-20.500.12854ir-1381752024-05-21T23:53:17Z Craniofacial Development and Growth in Polycystic Kidney Disease Craniofacial Development Polycystic Kidney Disease MJR Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder characterized by the presence of multiple cysts in kidneys. ADPKD has been shown to be caused by mutations in the genes of PKD1 and PKD2, encoding polycystin-1 (PC1) and polycystin-2 (PC2), respectively. Polycystins are localized in primary cilia that play roles in multiple biological processes including mechanoreception, Ca2+ influx and cell signalling pathways. Primary cilia are known to play important roles in regulating craniofacial development and growth. In this chapter, we summarize the function of Pkd1 and Pkd2 in controlling mouse craniofacial development and growth, and discuss PKD-associated molecular mechanisms. Published 2024-05-21T23:53:12Z 2024-05-21T23:53:12Z 2015-11-18 chapter 978-0-9944381-0-2 https://directory.doabooks.org/handle/20.500.12854/138175 eng image/jpeg Attribution-NonCommercial-NoDerivatives 4.0 International https://exonpublications.com/index.php/exon/article/view/87 Exon Publications Polycystic Kidney Disease 10.15586/codon.pkd.2015.ch19 10.15586/codon.pkd.2015.ch19 2d6001a3-9e06-4979-bf02-6974e313eb24 01173f6b-d01d-49c3-b18e-93cfe3a0383d 978-0-9944381-0-2 457-470 Brisbane(AU) open access
spellingShingle Craniofacial Development
Polycystic Kidney Disease
MJR
Craniofacial Development and Growth in Polycystic Kidney Disease
title Craniofacial Development and Growth in Polycystic Kidney Disease
title_full Craniofacial Development and Growth in Polycystic Kidney Disease
title_fullStr Craniofacial Development and Growth in Polycystic Kidney Disease
title_full_unstemmed Craniofacial Development and Growth in Polycystic Kidney Disease
title_short Craniofacial Development and Growth in Polycystic Kidney Disease
title_sort craniofacial development and growth in polycystic kidney disease
topic Craniofacial Development
Polycystic Kidney Disease
MJR
topic_facet Craniofacial Development
Polycystic Kidney Disease
MJR
url https://directory.doabooks.org/handle/20.500.12854/138175