CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome

Hyaline fibromatosis syndrome (HFS) is a hereditary disease characterized by nodular cutaneous lesions and joint pain. Here Bürgiet al. show that CMG2/ANTXR2 regulates collagen VI abundance, with loss-of-function mutations promoting collagen VI accumulation in HFS nodules and myometrial collagen dep...

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Autores principales:	Jérôme Bürgi, Béatrice Kunz, Laurence Abrami, Julie Deuquet, Alessandra Piersigilli, Sabine Scholl-Bürgi, Ekkehart Lausch, Sheila Unger, Andrea Superti-Furga, Paolo Bonaldo, F. Gisou van der Goot
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/4a3ba698348d47b29640ed06c5b22c1a
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spelling	oai:doaj.org-article:4a3ba698348d47b29640ed06c5b22c1a2021-12-02T14:40:56ZCMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome10.1038/ncomms158612041-1723https://doaj.org/article/4a3ba698348d47b29640ed06c5b22c1a2017-06-01T00:00:00Zhttps://doi.org/10.1038/ncomms15861https://doaj.org/toc/2041-1723Hyaline fibromatosis syndrome (HFS) is a hereditary disease characterized by nodular cutaneous lesions and joint pain. Here Bürgiet al. show that CMG2/ANTXR2 regulates collagen VI abundance, with loss-of-function mutations promoting collagen VI accumulation in HFS nodules and myometrial collagen deposition and sterility in mice, which can be rescued by depleting collagen VI.Jérôme BürgiBéatrice KunzLaurence AbramiJulie DeuquetAlessandra PiersigilliSabine Scholl-BürgiEkkehart LauschSheila UngerAndrea Superti-FurgaPaolo BonaldoF. Gisou van der GootNature PortfolioarticleScienceQENNature Communications, Vol 8, Iss 1, Pp 1-10 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Jérôme Bürgi Béatrice Kunz Laurence Abrami Julie Deuquet Alessandra Piersigilli Sabine Scholl-Bürgi Ekkehart Lausch Sheila Unger Andrea Superti-Furga Paolo Bonaldo F. Gisou van der Goot CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome
description	Hyaline fibromatosis syndrome (HFS) is a hereditary disease characterized by nodular cutaneous lesions and joint pain. Here Bürgiet al. show that CMG2/ANTXR2 regulates collagen VI abundance, with loss-of-function mutations promoting collagen VI accumulation in HFS nodules and myometrial collagen deposition and sterility in mice, which can be rescued by depleting collagen VI.
format	article
author	Jérôme Bürgi Béatrice Kunz Laurence Abrami Julie Deuquet Alessandra Piersigilli Sabine Scholl-Bürgi Ekkehart Lausch Sheila Unger Andrea Superti-Furga Paolo Bonaldo F. Gisou van der Goot
author_facet	Jérôme Bürgi Béatrice Kunz Laurence Abrami Julie Deuquet Alessandra Piersigilli Sabine Scholl-Bürgi Ekkehart Lausch Sheila Unger Andrea Superti-Furga Paolo Bonaldo F. Gisou van der Goot
author_sort	Jérôme Bürgi
title	CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome
title_short	CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome
title_full	CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome
title_fullStr	CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome
title_full_unstemmed	CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome
title_sort	cmg2/antxr2 regulates extracellular collagen vi which accumulates in hyaline fibromatosis syndrome
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/4a3ba698348d47b29640ed06c5b22c1a
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CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome

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