Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

Saeki, Naoya; Kanai, Rinna; Tatsuta, Sayuri; Kawaguchi, Shinichi; Itoh, Masatsune; Ohba, Shinsuke; Abe, Makoto

doi:https://doi.org/10.1002/dvdy.70082

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

Saeki, Naoya; Kanai, Rinna; Tatsuta, Sayuri et al.

Developmental Dynamics, 2025

アクセス数:226件（2026-02-15 21:36 集計）

固定URL: https://hdl.handle.net/11094/103278

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タイトル	Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies
著者	NRID 1000010982845 1000010982845 著者名 Saeki, Naoya
	著者名 Kanai, Rinna
	著者名 Tatsuta, Sayuri
	NRID 1000040321749 1000040321749 researchmap permalink 1234567890abc 1234567890abc Scopus Author ID 36762092600 36762092600 著者名 Kawaguchi, Shinichi
	NRID 1000060367472 1000060367472 著者名 Itoh, Masatsune
	NRID 1000020466733 1000020466733 ORCID 0000-0002-6874-8539 0000-0002-6874-8539 researchmap permalink shin-o shin-o Scopus Author ID 9248914100 9248914100 著者名 Ohba, Shinsuke
	NRID 1000040448105 1000040448105 ORCID 0000-0002-7182-4280 0000-0002-7182-4280 researchmap permalink -----_________ -----_________ Scopus Author ID 55323236000 55323236000 著者名 Abe, Makoto
キーワード等	disease model
	skeletal dysplasia
	transcription factor
	TRPS1
内容	Saeki N., Kanai R., Tatsuta S., et al. Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies. Developmental Dynamics (2025); https://doi.org/10.1002/dvdy.70082.
抄録	Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case presentations have been reported. TRPS is characterized by sparse slow-growing fine hair, a bulbous nose with tented nares, and brachydactyly with cone-shaped epiphyses on the hands and feet. Growth retardation and hip dysplasia are also frequently observed, suggesting that hair and skeletal phenotypes are the major pathologies of TRPS. Several animal models have been established and studied intensively to address this rare disease. However, comprehensive treatment strategies for TRPS have not been established. In this review, we summarize TRPS pathologies and the characteristics of TRPS1 as an atypical GATA-type transcription factor. We review rodent strains that have contributed to our understanding of the in vivo roles of Trps1 and discuss their validity as animal models of TRPS. We also summarize diseases that demonstrate pathologies similar to TRPS and findings in their animal models.
出版者	John Wiley and Sons Inc
収録物名	Developmental Dynamics
刊行年月	2025-09-25
言語	英語
ハンドルURL	https://hdl.handle.net/11094/103278
PISSN	10588388
eISSN	10970177
関連情報 (isIdenticalTo)	DOI (出版社版) https://doi.org/10.1002/dvdy.70082
アクセス権	open access
権利情報	This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
権利情報	© 2025 The Author(s). Developmental Dynamics published by Wiley Periodicals LLC on behalf of American Association for Anatomy.
出版タイプ	Version of Record
カテゴリ	学術雑誌論文 Journal Article

資源タイプ	学術雑誌論文
ローカル資源タイプ	学術雑誌論文
DCMI資源タイプ	text
DCTERMS.bibliographicCitation	Developmental Dynamics. 2025
DC.title	Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies
DC.creator	Saeki, Naoya
	Kanai, Rinna
	Tatsuta, Sayuri
	Kawaguchi, Shinichi
	Itoh, Masatsune
	Ohba, Shinsuke
	Abe, Makoto
DC.publisher	John Wiley and Sons Inc
DC.language' scheme='DCTERMS.RFC1766	英語
DC.type' scheme='DCTERMS.DCMIType	text
DCTERMS.issued' scheme='DCTERMS.W3CDTF	2025-09-25
DC.identifier	https://doi.org/10.1002/dvdy.70082
DC.subject	disease model
	skeletal dysplasia
	transcription factor
	TRPS1
DC.description	Saeki N., Kanai R., Tatsuta S., et al. Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies. Developmental Dynamics (2025); https://doi.org/10.1002/dvdy.70082.
DCTERMS.abstract	Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case presentations have been reported. TRPS is characterized by sparse slow-growing fine hair, a bulbous nose with tented nares, and brachydactyly with cone-shaped epiphyses on the hands and feet. Growth retardation and hip dysplasia are also frequently observed, suggesting that hair and skeletal phenotypes are the major pathologies of TRPS. Several animal models have been established and studied intensively to address this rare disease. However, comprehensive treatment strategies for TRPS have not been established. In this review, we summarize TRPS pathologies and the characteristics of TRPS1 as an atypical GATA-type transcription factor. We review rodent strains that have contributed to our understanding of the in vivo roles of Trps1 and discuss their validity as animal models of TRPS. We also summarize diseases that demonstrate pathologies similar to TRPS and findings in their animal models.
DC.rights	This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
DC.rights	© 2025 The Author(s). Developmental Dynamics published by Wiley Periodicals LLC on behalf of American Association for Anatomy.
DC.format	103278
citation_title	Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies
citation_author	Saeki, Naoya
	Kanai, Rinna
	Tatsuta, Sayuri
	Kawaguchi, Shinichi
	Itoh, Masatsune
	Ohba, Shinsuke
	Abe, Makoto
citation_publisher	John Wiley and Sons Inc
citation_language	英語
citation_date	2025-09-25
citation_journal_title	Developmental Dynamics
citation_doi	https://doi.org/10.1002/dvdy.70082
citation_public_url	https://hdl.handle.net/11094/103278

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

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