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Hedgehog Signal and Genetic Disorders

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dc.contributor.author Sasai, Noriaki
dc.contributor.author Toriyama, Michinori
dc.contributor.author Kondo, Toru
dc.date.accessioned 2019-11-29T08:18:42Z
dc.date.available 2019-11-29T08:18:42Z
dc.date.issued 2019-11-08
dc.identifier.uri http://hdl.handle.net/10061/13467
dc.description.abstract The hedgehog (Hh) family comprises sonic hedgehog (Shh), Indian hedgehog (Ihh), and desert hedgehog (Dhh), which are versatile signaling molecules involved in a wide spectrum of biological events including cell differentiation, proliferation, and survival; establishment of the vertebrate body plan; and aging. These molecules play critical roles from embryogenesis to adult stages; therefore, alterations such as abnormal expression or mutations of the genes involved and their downstream factors cause a variety of genetic disorders at different stages. The Hh family involves many signaling mediators and functions through complex mechanisms, and achieving a comprehensive understanding of the entire signaling system is challenging. This review discusses the signaling mediators of the Hh pathway and their functions at the cellular and organismal levels. We first focus on the roles of Hh signaling mediators in signal transduction at the cellular level and the networks formed by these factors. Then, we analyze the spatiotemporal pattern of expression of Hh pathway molecules in tissues and organs, and describe the phenotypes of mutant mice. Finally, we discuss the genetic disorders caused by malfunction of Hh signaling-related molecules in humans. ja_JP
dc.language.iso en ja_JP
dc.publisher Frontiers ja_JP
dc.rights © 2019 Sasai, Toriyama and Kondo. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. ja_JP
dc.subject sonic hedgehog (Shh) ja_JP
dc.subject development ja_JP
dc.subject genetic disease ja_JP
dc.subject mouse model ja_JP
dc.subject ciliopathies ja_JP
dc.subject cancer ja_JP
dc.title Hedgehog Signal and Genetic Disorders ja_JP
dc.type.nii Journal Article ja_JP
dc.contributor.transcription ササイ, ノリアキ
dc.contributor.transcription トリヤマ, ミチノリ
dc.contributor.alternative 笹井, 紀明
dc.contributor.alternative 鳥山, 道則
dc.textversion publisher ja_JP
dc.identifier.jtitle Frontiers in Genetics ja_JP
dc.identifier.volume 10 ja_JP
dc.relation.doi info:doi/https://doi.org/10.3389/fgene.2019.01103 ja_JP
dc.identifier.artnum 1103 ja_JP
dc.identifier.NAIST-ID 74651969 ja_JP
dc.identifier.NAIST-ID 73293813 ja_JP

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