CYP11B1 variants influence skeletal maturation via alternative splicing

Olja Grgic, Matthew Gazzara, and Alessandra Chesi et al. perform a genome-wide association study meta-analysis for skeletal age in two pediatric cohorts. They observe that variation in the adrenal gene, CYP11B1, impacts its alternative splicing, suggesting that adrenal steroidogenesis may contribute...

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Autores principales:	Olja Grgic, Matthew R. Gazzara, Alessandra Chesi, Carolina Medina-Gomez, Diana L. Cousminer, Jonathan A. Mitchell, Vid Prijatelj, Jard de Vries, Enisa Shevroja, Shana E. McCormack, Heidi J. Kalkwarf, Joan M. Lappe, Vicente Gilsanz, Sharon E. Oberfield, John A. Shepherd, Andrea Kelly, Soroosh Mahboubi, Fabio R. Faucz, Richard A. Feelders, Frank H. de Jong, Andre G. Uitterlinden, Jenny A. Visser, Louis R. Ghanem, Eppo B. Wolvius, Leo J. Hofland, Constantine A. Stratakis, Babette S. Zemel, Yoseph Barash, Struan F. A. Grant, Fernando Rivadeneira
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/828a46ae925244b793f2682e780f9eb6
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spelling	oai:doaj.org-article:828a46ae925244b793f2682e780f9eb62021-11-14T12:12:10ZCYP11B1 variants influence skeletal maturation via alternative splicing10.1038/s42003-021-02774-y2399-3642https://doaj.org/article/828a46ae925244b793f2682e780f9eb62021-11-01T00:00:00Zhttps://doi.org/10.1038/s42003-021-02774-yhttps://doaj.org/toc/2399-3642Olja Grgic, Matthew Gazzara, and Alessandra Chesi et al. perform a genome-wide association study meta-analysis for skeletal age in two pediatric cohorts. They observe that variation in the adrenal gene, CYP11B1, impacts its alternative splicing, suggesting that adrenal steroidogenesis may contribute toward variation in skeletal age in otherwise healthy children.Olja GrgicMatthew R. GazzaraAlessandra ChesiCarolina Medina-GomezDiana L. CousminerJonathan A. MitchellVid PrijateljJard de VriesEnisa ShevrojaShana E. McCormackHeidi J. KalkwarfJoan M. LappeVicente GilsanzSharon E. OberfieldJohn A. ShepherdAndrea KellySoroosh MahboubiFabio R. FauczRichard A. FeeldersFrank H. de JongAndre G. UitterlindenJenny A. VisserLouis R. GhanemEppo B. WolviusLeo J. HoflandConstantine A. StratakisBabette S. ZemelYoseph BarashStruan F. A. GrantFernando RivadeneiraNature PortfolioarticleBiology (General)QH301-705.5ENCommunications Biology, Vol 4, Iss 1, Pp 1-10 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Biology (General) QH301-705.5
spellingShingle	Biology (General) QH301-705.5 Olja Grgic Matthew R. Gazzara Alessandra Chesi Carolina Medina-Gomez Diana L. Cousminer Jonathan A. Mitchell Vid Prijatelj Jard de Vries Enisa Shevroja Shana E. McCormack Heidi J. Kalkwarf Joan M. Lappe Vicente Gilsanz Sharon E. Oberfield John A. Shepherd Andrea Kelly Soroosh Mahboubi Fabio R. Faucz Richard A. Feelders Frank H. de Jong Andre G. Uitterlinden Jenny A. Visser Louis R. Ghanem Eppo B. Wolvius Leo J. Hofland Constantine A. Stratakis Babette S. Zemel Yoseph Barash Struan F. A. Grant Fernando Rivadeneira CYP11B1 variants influence skeletal maturation via alternative splicing
description	Olja Grgic, Matthew Gazzara, and Alessandra Chesi et al. perform a genome-wide association study meta-analysis for skeletal age in two pediatric cohorts. They observe that variation in the adrenal gene, CYP11B1, impacts its alternative splicing, suggesting that adrenal steroidogenesis may contribute toward variation in skeletal age in otherwise healthy children.
format	article
author	Olja Grgic Matthew R. Gazzara Alessandra Chesi Carolina Medina-Gomez Diana L. Cousminer Jonathan A. Mitchell Vid Prijatelj Jard de Vries Enisa Shevroja Shana E. McCormack Heidi J. Kalkwarf Joan M. Lappe Vicente Gilsanz Sharon E. Oberfield John A. Shepherd Andrea Kelly Soroosh Mahboubi Fabio R. Faucz Richard A. Feelders Frank H. de Jong Andre G. Uitterlinden Jenny A. Visser Louis R. Ghanem Eppo B. Wolvius Leo J. Hofland Constantine A. Stratakis Babette S. Zemel Yoseph Barash Struan F. A. Grant Fernando Rivadeneira
author_facet	Olja Grgic Matthew R. Gazzara Alessandra Chesi Carolina Medina-Gomez Diana L. Cousminer Jonathan A. Mitchell Vid Prijatelj Jard de Vries Enisa Shevroja Shana E. McCormack Heidi J. Kalkwarf Joan M. Lappe Vicente Gilsanz Sharon E. Oberfield John A. Shepherd Andrea Kelly Soroosh Mahboubi Fabio R. Faucz Richard A. Feelders Frank H. de Jong Andre G. Uitterlinden Jenny A. Visser Louis R. Ghanem Eppo B. Wolvius Leo J. Hofland Constantine A. Stratakis Babette S. Zemel Yoseph Barash Struan F. A. Grant Fernando Rivadeneira
author_sort	Olja Grgic
title	CYP11B1 variants influence skeletal maturation via alternative splicing
title_short	CYP11B1 variants influence skeletal maturation via alternative splicing
title_full	CYP11B1 variants influence skeletal maturation via alternative splicing
title_fullStr	CYP11B1 variants influence skeletal maturation via alternative splicing
title_full_unstemmed	CYP11B1 variants influence skeletal maturation via alternative splicing
title_sort	cyp11b1 variants influence skeletal maturation via alternative splicing
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/828a46ae925244b793f2682e780f9eb6
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CYP11B1 variants influence skeletal maturation via alternative splicing

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