Search: (AMNE:(MEDICIN OCH HÄLSOVETENSKAP Medicinska och farmaceutiska grundvetenskaper)) hsvcat:3 pers:(Ohlsson Claes 1965) pers:(Rivadeneira F) >
Bone mineral densit...
Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis
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- Medina-Gomez, C. (author)
- Erasmus University Medical Center
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Mullin, B. H. (author)
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Chesi, A. (author)
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show more...
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Prijatelj, V. (author)
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Kemp, J. P. (author)
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Shochat-Carvalho, C. (author)
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Trajanoska, K. (author)
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Wang, C. (author)
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Joro, R. (author)
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Evans, T. E. (author)
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Schraut, K. E. (author)
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Li-Gao, R. (author)
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Ahluwalia, T. S. (author)
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Zillikens, M. C. (author)
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Zhu, K. (author)
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Mook-Kanamori, D. O. (author)
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Evans, D. S. (author)
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- Nethander, Maria, 1980 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition,Core Facilities, Bioinformatics,Centre for Bone and Arthritis Research,Institute of Medicine, Department of Internal Medicine and Clinical Nutrition,Core Facilities, Bioinformatics
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Knol, M. J. (author)
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Thorleifsson, G. (author)
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Prokic, I. (author)
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Zemel, B. (author)
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Broer, L. (author)
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- McGuigan, F.E. (author)
- Lund University,Lunds universitet,Ortopedi - klinisk och molekylär osteoporosforskning,Forskargrupper vid Lunds universitet,Orthopedics - Clinical and Molecular Osteoporosis Research,Lund University Research Groups
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van Schoor, N. M. (author)
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Reppe, S. (author)
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Pawlak, M. A. (author)
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Ralston, S. H. (author)
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van der Velde, N. (author)
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- Lorentzon, Mattias, 1970 (author)
- Gothenburg University,Göteborgs universitet,Centre for Bone and Arthritis Research
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Stefansson, K. (author)
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Adams, H. H. H. (author)
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Wilson, S. G. (author)
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Ikram, M. A. (author)
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Walsh, J. P. (author)
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Lakka, T. A. (author)
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Gautvik, K. M. (author)
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Wilson, J. F. (author)
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Orwoll, E. S. (author)
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van Duijn, C. M. (author)
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Bonnelykke, K. (author)
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Uitterlinden, A. G. (author)
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Styrkarsdottir, U. (author)
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- Akesson, K.E. (author)
- Lund University,Lunds universitet,Ortopedi - klinisk och molekylär osteoporosforskning,Forskargrupper vid Lunds universitet,Orthopedics - Clinical and Molecular Osteoporosis Research,Lund University Research Groups,Skåne University Hospital
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Spector, T. D. (author)
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Tobias, J. H. (author)
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- Ohlsson, Claes, 1965 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition,Centre for Bone and Arthritis Research,Institute of Medicine, Department of Internal Medicine and Clinical Nutrition
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Felix, J. F. (author)
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Bisgaard, H. (author)
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Grant, S. F. A. (author)
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Richards, J. B. (author)
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Evans, D. M. (author)
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van der Eerden, B. (author)
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van de Peppel, J. (author)
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Ackert-Bicknell, C. (author)
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Karasik, D. (author)
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Kague, E. (author)
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- Rivadeneira, F. (author)
- Erasmus University Medical Center
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(creator_code:org_t)
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et al
- 2023
- 2023
- English.
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In: Communications Biology. - 2399-3642. ; 6:1
- Related links:
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http://dx.doi.org/10... (free)
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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https://lup.lub.lu.s...
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Abstract
Subject headings
Close
- Skull bone mineral density (SK-BMD) provides a suitable trait for the discovery of key genes in bone biology, particularly to intramembranous ossification, not captured at other skeletal sites. We perform a genome-wide association meta-analysis (n similar to 43,800) of SK-BMD, identifying 59 loci, collectively explaining 12.5% of the trait variance. Association signals cluster within gene-sets involved in skeletal development and osteoporosis. Among the four novel loci (ZIC1, PRKAR1A, AZIN1/ATP6V1C1, GLRX3), there are factors implicated in intramembranous ossification and as we show, inherent to craniosynostosis processes. Functional follow-up in zebrafish confirms the importance of ZIC1 on cranial suture patterning. Likewise, we observe abnormal cranial bone initiation that culminates in ectopic sutures and reduced BMD in mosaic atp6v1c1 knockouts. Mosaic prkar1a knockouts present asymmetric bone growth and, conversely, elevated BMD. In light of this evidence linking SK-BMD loci to craniofacial abnormalities, our study provides new insight into the pathophysiology, diagnosis and treatment of skeletal diseases.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Annan medicin och hälsovetenskap (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Other Medical and Health Sciences (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- genome-wide association
- gene
- identification
- metaanalysis
- variants
- gwas
- heritability
- mutations
- zic1
- Life Sciences & Biomedicine - Other Topics
- Science & Technology - Other
- Topics
- Animals
- Bone Density
- Craniosynostoses
- Genome-Wide Association Study
- Skull
- Transcription Factors
- Zebrafish
- transcription factor
- animal
- bone density
- craniofacial synostosis
- genetics
- genome-wide association study
- meta analysis
- skull
- zebra fish
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
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Medina-Gomez, C.
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Mullin, B. H.
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Chesi, A.
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Prijatelj, V.
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Kemp, J. P.
-
Shochat-Carvalho ...
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show more...
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Trajanoska, K.
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Wang, C.
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Joro, R.
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Evans, T. E.
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Schraut, K. E.
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Li-Gao, R.
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Ahluwalia, T. S.
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Zillikens, M. C.
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Zhu, K.
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Mook-Kanamori, D ...
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Evans, D. S.
-
Nethander, Maria ...
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Knol, M. J.
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Thorleifsson, G.
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Prokic, I.
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Zemel, B.
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Broer, L.
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McGuigan, F.E.
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van Schoor, N. M ...
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Reppe, S.
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Pawlak, M. A.
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Ralston, S. H.
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van der Velde, N ...
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Lorentzon, Matti ...
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Stefansson, K.
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Adams, H. H. H.
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Wilson, S. G.
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Ikram, M. A.
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Walsh, J. P.
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Lakka, T. A.
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Gautvik, K. M.
-
Wilson, J. F.
-
Orwoll, E. S.
-
van Duijn, C. M.
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Bonnelykke, K.
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Uitterlinden, A. ...
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Styrkarsdottir, ...
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Akesson, K.E.
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Spector, T. D.
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Tobias, J. H.
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Ohlsson, Claes, ...
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Felix, J. F.
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Bisgaard, H.
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Grant, S. F. A.
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Richards, J. B.
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Evans, D. M.
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van der Eerden, ...
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van de Peppel, J ...
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Ackert-Bicknell, ...
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Karasik, D.
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Kague, E.
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Rivadeneira, F.
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Other Medical an ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Communications B ...
- By the university
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University of Gothenburg
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Lund University