ArticleCommunications biology2021
CYP11B1 variants influence skeletal maturation via alternative splicing.
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Article in Communications biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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0cells of the map it votes in
5citing papers in PubMed
0.7field-weighted citation impact, top 27% of its field
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Who cites it
5 citing papers in PubMed, 8 citations in OpenAlex.
- A deep dive into statistical modeling of RNA splicing QTLs reveals variants that explain neurodegenerative disease.American journal of human genetics · 2025Article
- Pathogenicity of Congenital Adrenal Hyperplasia Induced by the p.P377L Mutation of CYP11B1.Biochemical genetics · 2024Article
- Genetic and Gene Expression Resources for Osteoporosis and Bone Biology Research.Current osteoporosis reports · 2023Review
- Genetic variants in CYP11B1 influence the susceptibility to coronary heart disease.BMC medical genomics · 2022Article
- Article
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Authors and funding
30 authors at 10 institutions in 3 countries.
Olja Grgic *Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands.
Matthew R Gazzara *Department of Genetics, Perelman School of Medicine, University of Pennsylvania, 2615 Civic Center Boulevard, Philadelphia, PA, 19104, USA.
Alessandra Chesi *Center for Spatial and Functional Genomics, Children's Hospital of Philadelphia, 3401 Civic Center Boulevard, Philadelphia, PA, 19104, USA.
Carolina Medina-GomezDepartment of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands.ORCID http://orcid.org/0000-0001-7999-5538
Diana L CousminerDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, 2615 Civic Center Boulevard, Philadelphia, PA, 19104, USA.
Jonathan A MitchellDepartment of Pediatrics, Perelman School of Medicine, University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA.ORCID http://orcid.org/0000-0003-3765-2419
Vid PrijateljDepartment of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands.ORCID http://orcid.org/0000-0002-9463-3962
Jard de VriesDepartment of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands.
Enisa ShevrojaBone and Joint Department, Center of Bone Diseases, Lausanne University Hospital, Rue du Bugnon 46, 1011, Lausanne, Switzerland.
Shana E McCormackDepartment of Pediatrics, Perelman School of Medicine, University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA.
Heidi J KalkwarfDepartment of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, 3333 Burnet Ave, Cincinnati, OH, 45229, USA.
Joan M LappeDivision of Endocrinology, Creighton University, 2500 California Plaza, Omaha, NE, 68178, USA.
Vicente GilsanzDivision of Orthopedic Surgery, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, 1975 Zonal Ave, Los Angeles, CA, 90033, USA.
Sharon E OberfieldDivision of Pediatric Endocrinology, Morgan Stanley Children's Hospital, Columbia University Irving Medical Center, 622 West 168th Street, PH17 W 307, New York, NY, 10032, USA.
John A ShepherdCancer Epidemiology, University of Hawai'i Cancer Center, 701 Ilalo St, Honolulu, HI, 96813, USA.
Andrea KellyDepartment of Pediatrics, Perelman School of Medicine, University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA.ORCID http://orcid.org/0000-0003-1724-9868
Soroosh MahboubiDepartment of Radiology, Children's Hospital of Philadelphia, 3401 Civic Center Boulevard, Philadelphia, PA, 19104, USA.
Fabio R FauczSection on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, 6710 Rockledge Dr, Bethesda, MD, 20817, USA.ORCID http://orcid.org/0000-0001-7959-9842
Richard A FeeldersDepartment of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands.
Frank H de JongDepartment of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands.ORCID http://orcid.org/0000-0003-3578-1065
Andre G UitterlindenDepartment of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands.ORCID http://orcid.org/0000-0002-7276-3387
Jenny A VisserDepartment of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands.ORCID http://orcid.org/0000-0001-7182-3571
Louis R GhanemDepartment of Pediatrics, Perelman School of Medicine, University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA.ORCID http://orcid.org/0000-0002-7723-5241
Eppo B WolviusDepartment of Oral and Maxillofacial Surgery, Erasmus MC, University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands.
Leo J HoflandDepartment of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands.
Constantine A StratakisSection on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, 6710 Rockledge Dr, Bethesda, MD, 20817, USA.ORCID http://orcid.org/0000-0002-4058-5520
Babette S ZemelDepartment of Pediatrics, Perelman School of Medicine, University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA.ORCID http://orcid.org/0000-0002-6164-7348
Yoseph Barash *Department of Genetics, Perelman School of Medicine, University of Pennsylvania, 2615 Civic Center Boulevard, Philadelphia, PA, 19104, USA.ORCID http://orcid.org/0000-0003-3005-5048
Struan F A Grant *Department of Genetics, Perelman School of Medicine, University of Pennsylvania, 2615 Civic Center Boulevard, Philadelphia, PA, 19104, USA.ORCID http://orcid.org/0000-0003-2025-5302
Fernando Rivadeneira *Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands. f.rivadeneira@erasmusmc.nl.ORCID http://orcid.org/0000-0001-9435-9441
Erasmus MC · NLChildren's Hospital of Philadelphia · USNational Institutes of Health · USUniversity of Pennsylvania · USCincinnati Children's Hospital Medical Center · USCreighton University · USMorgan Stanley Children's Hospital · USUniversity of Hawaiʻi at Mānoa · USUniversity of Lausanne · CHUniversity of Southern California · US
Funding
Cincinnati Center for Clinical and Translational Sciences and TrainingUL1TR000077 · NCATS · UNIVERSITY OF CINCINNATI · PI HEUBI, JAMES E. · 2012 to 2014
$9.9MGenome Wide Association Study of Bone Mineral Accretion During ChildhoodR01HD058886 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI GRANT, STRUAN F A, ZEMEL, BABETTE S · 2010 to 2013
$3.1MMethods for RNA splicing variations detection, quantification, visualization, and association from large heterogeneous datasetsR01GM128096 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI BARASH, YOSEPH · 2018 to 2021
$1.8MModeling Splicing in normal tissues and neurodegenerative diseaseR01AG046544 · NIA · UNIVERSITY OF PENNSYLVANIA · PI BARASH, YOSEPH · 2014 to 2018
$1.6MSleep, Energetic Behaviors, and Adolescent Obesity during the Transition from Middle to High SchoolK01HL123612 · NHLBI · CHILDREN'S HOSP OF PHILADELPHIA · PI MITCHELL, JONATHAN ANDREW · 2015 to 2019
$787kGenetic determinants of puberty and later life health outcomesK99HD099330 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI COUSMINER, DIANA · 2019 to 2019
$132kNCATS NIH HHS UL1 TR000077NHLBI NIH HHS K01 HL123612NIA NIH HHS R01 AG046544NICHD NIH HHS K99 HD099330NICHD NIH HHS R01 HD058886NIGMS NIH HHS R01 GM128096
Abstract
We performed genome-wide association study meta-analysis to identify genetic determinants of skeletal age (SA) deviating in multiple growth disorders. The joint meta-analysis (N = 4557) in two multiethnic cohorts of school-aged children identified one locus, CYP11B1 (expression confined to the adrenal gland), robustly associated with SA (rs6471570-A; β = 0.14; P = 6.2 × 10
Indexed as
Alternative SplicingAge Determination by SkeletonBone DevelopmentChildFemaleHumansMaleSteroid 11-beta-HydroxylaseSteroid 11-beta-Hydroxylase
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.