Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity

Nail-patella syndrome (NPS) is characterized by nail dysplasia, absent/hypoplastic patellae, chronic kidney disease, and glaucoma and can be caused by haploinsufficiency of LMX1B; however, not all patients harbor pathogenic LMX1B mutations. Here the authors show that loss-of-function variations in u...

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Autores principales:	Endika Haro, Florence Petit, Charmaine U. Pira, Conor D. Spady, Sara Lucas-Toca, Lauren I. Yorozuya, Austin L. Gray, Fabienne Escande, Anne-Sophie Jourdain, Andy Nguyen, Florence Fellmann, Jean-Marc Good, Christine Francannet, Sylvie Manouvrier-Hanu, Marian A. Ros, Kerby C. Oberg
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/c839defb640841778feac8543d2361dc
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spelling	oai:doaj.org-article:c839defb640841778feac8543d2361dc2021-12-02T18:48:11ZIdentification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity10.1038/s41467-021-25844-52041-1723https://doaj.org/article/c839defb640841778feac8543d2361dc2021-09-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-25844-5https://doaj.org/toc/2041-1723Nail-patella syndrome (NPS) is characterized by nail dysplasia, absent/hypoplastic patellae, chronic kidney disease, and glaucoma and can be caused by haploinsufficiency of LMX1B; however, not all patients harbor pathogenic LMX1B mutations. Here the authors show that loss-of-function variations in upstream enhancer sequences are responsible for a limb specific form of human NPS.Endika HaroFlorence PetitCharmaine U. PiraConor D. SpadySara Lucas-TocaLauren I. YorozuyaAustin L. GrayFabienne EscandeAnne-Sophie JourdainAndy NguyenFlorence FellmannJean-Marc GoodChristine FrancannetSylvie Manouvrier-HanuMarian A. RosKerby C. ObergNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-11 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Endika Haro Florence Petit Charmaine U. Pira Conor D. Spady Sara Lucas-Toca Lauren I. Yorozuya Austin L. Gray Fabienne Escande Anne-Sophie Jourdain Andy Nguyen Florence Fellmann Jean-Marc Good Christine Francannet Sylvie Manouvrier-Hanu Marian A. Ros Kerby C. Oberg Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity
description	Nail-patella syndrome (NPS) is characterized by nail dysplasia, absent/hypoplastic patellae, chronic kidney disease, and glaucoma and can be caused by haploinsufficiency of LMX1B; however, not all patients harbor pathogenic LMX1B mutations. Here the authors show that loss-of-function variations in upstream enhancer sequences are responsible for a limb specific form of human NPS.
format	article
author	Endika Haro Florence Petit Charmaine U. Pira Conor D. Spady Sara Lucas-Toca Lauren I. Yorozuya Austin L. Gray Fabienne Escande Anne-Sophie Jourdain Andy Nguyen Florence Fellmann Jean-Marc Good Christine Francannet Sylvie Manouvrier-Hanu Marian A. Ros Kerby C. Oberg
author_facet	Endika Haro Florence Petit Charmaine U. Pira Conor D. Spady Sara Lucas-Toca Lauren I. Yorozuya Austin L. Gray Fabienne Escande Anne-Sophie Jourdain Andy Nguyen Florence Fellmann Jean-Marc Good Christine Francannet Sylvie Manouvrier-Hanu Marian A. Ros Kerby C. Oberg
author_sort	Endika Haro
title	Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity
title_short	Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity
title_full	Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity
title_fullStr	Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity
title_full_unstemmed	Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity
title_sort	identification of limb-specific lmx1b auto-regulatory modules with nail-patella syndrome pathogenicity
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/c839defb640841778feac8543d2361dc
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Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity

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