Imperial College London
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ProfessorGrahamWilliams

Faculty of Medicine, Department of Metabolism, Digestion and Reproduction

Clinical Professor of Endocrinology
 
 
 
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Contact

 

+44 (0)20 3313 1383graham.williams

 
 
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Location

 

10N5Commonwealth BuildingHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@article{Swan:2020:10.1371/journal.pgen.1009190,
author = {Swan, AL and Schuett, C and Rozman, J and Moreno, MDMM and Brandmaier, S and Simon, M and Leuchtenberger, S and Griffiths, M and Brommage, R and Keskivali-Bond, P and Grallert, H and Werner, T and Teperino, R and Becker, L and Miller, G and Moshiri, A and Seavitt, JR and Cissell, DD and Meehan, TF and Acar, EF and Lelliott, CJ and Flenniken, AM and Champy, M-F and Sorg, T and Ayadi, A and Braun, RE and Cater, H and Dickinson, ME and Flicek, P and Gallegos, J and Ghirardello, EJ and Heaney, JD and Jacquot, S and Lally, C and Logan, JG and Teboul, L and Mason, J and Spielmann, N and McKerlie, C and Murray, SA and Nutter, LMJ and Odfalk, KF and Parkinson, H and Prochazka, J and Reynolds, CL and Selloum, M and Spoutil, F and Svenson, KL and Vales, TS and Wells, SE and White, JK and Sedlacek, R and Wurst, W and Lloyd, KKC and Croucher, P and Fuchs, H and Williams, GR and Bassett, D and Gailus-Durner, V and Herault, Y and Mallon, A-M and Brown, SDM and Mayer-Kuckuk, P and de, Angelis MH},
doi = {10.1371/journal.pgen.1009190},
journal = {PLoS Genetics},
pages = {1--27},
title = {Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density},
url = {http://dx.doi.org/10.1371/journal.pgen.1009190},
volume = {16},
year = {2020}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - The genetic landscape of diseases associated with changes in bone mineral density (BMD), such as osteoporosis, is only partially understood. Here, we explored data from 3,823 mutant mouse strains for BMD, a measure that is frequently altered in a range of bone pathologies, including osteoporosis. A total of 200 genes were found to significantly affect BMD. This pool of BMD genes comprised 141 genes with previously unknown functions in bone biology and was complementary to pools derived from recent human studies. Nineteen of the 141 genes also caused skeletal abnormalities. Examination of the BMD genes in osteoclasts and osteoblasts underscored BMD pathways, including vesicle transport, in these cells and together with in silico bone turnover studies resulted in the prioritization of candidate genes for further investigation. Overall, the results add novel pathophysiological and molecular insight into bone health and disease.
AU  - Swan,AL
AU  - Schuett,C
AU  - Rozman,J
AU  - Moreno,MDMM
AU  - Brandmaier,S
AU  - Simon,M
AU  - Leuchtenberger,S
AU  - Griffiths,M
AU  - Brommage,R
AU  - Keskivali-Bond,P
AU  - Grallert,H
AU  - Werner,T
AU  - Teperino,R
AU  - Becker,L
AU  - Miller,G
AU  - Moshiri,A
AU  - Seavitt,JR
AU  - Cissell,DD
AU  - Meehan,TF
AU  - Acar,EF
AU  - Lelliott,CJ
AU  - Flenniken,AM
AU  - Champy,M-F
AU  - Sorg,T
AU  - Ayadi,A
AU  - Braun,RE
AU  - Cater,H
AU  - Dickinson,ME
AU  - Flicek,P
AU  - Gallegos,J
AU  - Ghirardello,EJ
AU  - Heaney,JD
AU  - Jacquot,S
AU  - Lally,C
AU  - Logan,JG
AU  - Teboul,L
AU  - Mason,J
AU  - Spielmann,N
AU  - McKerlie,C
AU  - Murray,SA
AU  - Nutter,LMJ
AU  - Odfalk,KF
AU  - Parkinson,H
AU  - Prochazka,J
AU  - Reynolds,CL
AU  - Selloum,M
AU  - Spoutil,F
AU  - Svenson,KL
AU  - Vales,TS
AU  - Wells,SE
AU  - White,JK
AU  - Sedlacek,R
AU  - Wurst,W
AU  - Lloyd,KKC
AU  - Croucher,P
AU  - Fuchs,H
AU  - Williams,GR
AU  - Bassett,D
AU  - Gailus-Durner,V
AU  - Herault,Y
AU  - Mallon,A-M
AU  - Brown,SDM
AU  - Mayer-Kuckuk,P
AU  - de,Angelis MH
DO  - 10.1371/journal.pgen.1009190
EP  - 27
PY  - 2020///
SN  - 1553-7390
SP  - 1
TI  - Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density
T2  - PLoS Genetics
UR  - http://dx.doi.org/10.1371/journal.pgen.1009190
UR  - http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000603637400005&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
UR  - https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1009190
UR  - http://hdl.handle.net/10044/1/87449
VL  - 16
ER  -
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