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##  83 results 

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### 2025

Taye N, Karoulias SZ, Balic Z, Wang LW, Willard BB, Martin D, Richard D, Okamoto AS, Capellini TD, Apte SS, et al. [Combined ADAMTS10 and ADAMTS17 inactivation exacerbates bone shortening and skin phenotypes.](/publication/combined-adamts10-and-adamts17-inactivation-exacerbates-bone-shortening-and-skin) Life science alliance. 2025;8(12). doi:10.26508/lsa.202503232



 

 

Taye N, Karoulias SZ, Balic Z, Wang LW, Willard BB, Martin D, Richard D, Okamoto AS, Capellini TD, Apte SS, et al. [Combined ADAMTS10 and ADAMTS17 inactivation exacerbates bone shortening and skin phenotypes.](/publication/combined-adamts10-and-adamts17-inactivation-exacerbates-bone-shortening-and-skin) Life science alliance. 2025;8(12). doi:10.26508/lsa.202503232



 

 

 

- add\_circle\_outline do\_not\_disturb\_on Abstract
 
Weill-Marchesani syndrome (WMS) is characterized by severe short stature, joint contractures, tight skin, heart valve and eye anomalies. WMS is caused by biallelic mutations in , , or , or mono-allelic mutations in Because bone growth is driven by...



 

 

 

Coveney CR, Maridas D, Chen H, Muthuirulan P, Liu Z, Jagoda E, Yarlagadda S, Movahhedi M, Proffen B, Dashtdar B, et al. [Complex Regulatory Interactions at GDF5 Shape Joint Morphology and Osteoarthritis Disease Risk.](/publication/complex-regulatory-interactions-gdf5-shape-joint-morphology-and-osteoarthritis-disease) Arthritis &amp; rheumatology (Hoboken, N.J.). 2025;77(11):1488–1502. doi:10.1002/art.43231



 

 

Coveney CR, Maridas D, Chen H, Muthuirulan P, Liu Z, Jagoda E, Yarlagadda S, Movahhedi M, Proffen B, Dashtdar B, et al. [Complex Regulatory Interactions at GDF5 Shape Joint Morphology and Osteoarthritis Disease Risk.](/publication/complex-regulatory-interactions-gdf5-shape-joint-morphology-and-osteoarthritis-disease) Arthritis &amp; rheumatology (Hoboken, N.J.). 2025;77(11):1488–1502. doi:10.1002/art.43231



 

 

 

- add\_circle\_outline do\_not\_disturb\_on Abstract
 
OBJECTIVE: The objective of this study was to reveal causal-level osteoarthritis (OA) disease biology by targeting regulatory interactions at GDF5.

METHODS: By investigating different GDF5 regulatory regions (R2, R3-R5, R7-R9, R18-R20, GROW1), we explored...



 

 

 

Senevirathne G, Capellini TD. [New methodological approaches and insights gained toward understanding the evolved human skeleton.](/publication/new-methodological-approaches-and-insights-gained-toward-understanding-evolved-human) Current opinion in genetics &amp; development. 2025;95:102413. doi:10.1016/j.gde.2025.102413



 

 

Senevirathne G, Capellini TD. [New methodological approaches and insights gained toward understanding the evolved human skeleton.](/publication/new-methodological-approaches-and-insights-gained-toward-understanding-evolved-human) Current opinion in genetics &amp; development. 2025;95:102413. doi:10.1016/j.gde.2025.102413



 

 

 

- add\_circle\_outline do\_not\_disturb\_on Abstract
 
Modern humans exhibit marked musculoskeletal changes when compared to those of our African ape relatives, such as chimpanzees, bonobos, and gorillas. These changes reflect adaptive shifts during hominin evolution in spine, pelvis, knee, and foot...



 

 

 

Raj S, Cutia T, Menghini S, Alemany-Ribes M, Cai J, Young M, Jachim SK, Capellini TD, Craft AM. [The roles of TGF-β, Wnt, and MAPK signaling pathways in joint lineage specification in vitro and ex vivo.](/publication/roles-tgf-b-wnt-and-mapk-signaling-pathways-joint-lineage-specification-vitro-and-ex) Stem cell reports. 2025;20(11):102685. doi:10.1016/j.stemcr.2025.102685



 

 

Raj S, Cutia T, Menghini S, Alemany-Ribes M, Cai J, Young M, Jachim SK, Capellini TD, Craft AM. [The roles of TGF-β, Wnt, and MAPK signaling pathways in joint lineage specification in vitro and ex vivo.](/publication/roles-tgf-b-wnt-and-mapk-signaling-pathways-joint-lineage-specification-vitro-and-ex) Stem cell reports. 2025;20(11):102685. doi:10.1016/j.stemcr.2025.102685



 

 

 

- add\_circle\_outline do\_not\_disturb\_on Abstract
 
The initiation of synovial joint development and subsequent differentiation of progenitor cells toward anatomically and functionally distinct joint tissues are not well understood, despite being highly relevant to joint health and disease. We generated a...



 

 

 

Dingwall HL, Grinstein M, Peterson B, Capellini TD, Galloway JL. [Dynamic transcriptional and epigenetic changes define postnatal tendon growth.](/publication/dynamic-transcriptional-and-epigenetic-changes-define-postnatal-tendon-growth) PLoS genetics. 2025;21(11):e1011902. doi:10.1371/journal.pgen.1011902



 

 

Dingwall HL, Grinstein M, Peterson B, Capellini TD, Galloway JL. [Dynamic transcriptional and epigenetic changes define postnatal tendon growth.](/publication/dynamic-transcriptional-and-epigenetic-changes-define-postnatal-tendon-growth) PLoS genetics. 2025;21(11):e1011902. doi:10.1371/journal.pgen.1011902



 

 

 

- add\_circle\_outline do\_not\_disturb\_on Abstract
 
Tendons are dynamic structures that efficiently transmit force and enable movement. From birth, tendons undergo dramatic changes from a principally cellular tissue to a hypocellular one characterized by a dense and highly ordered extracellular matrix...



 

 

 

Roberts JB, Rockel JS, Mulders R, Capellini TD, Appleton T, Phanstiel DH, Lories R, Geurts J, Ali SA, Bhutani N, et al. [From mechanism to medicine: The progress and potential of epigenetics in osteoarthritis.](/publication/mechanism-medicine-progress-and-potential-epigenetics-osteoarthritis) Osteoarthritis and cartilage open. 2025;7(3):100621. doi:10.1016/j.ocarto.2025.100621



 

 

Roberts JB, Rockel JS, Mulders R, Capellini TD, Appleton T, Phanstiel DH, Lories R, Geurts J, Ali SA, Bhutani N, et al. [From mechanism to medicine: The progress and potential of epigenetics in osteoarthritis.](/publication/mechanism-medicine-progress-and-potential-epigenetics-osteoarthritis) Osteoarthritis and cartilage open. 2025;7(3):100621. doi:10.1016/j.ocarto.2025.100621



 

 

 

- add\_circle\_outline do\_not\_disturb\_on Abstract
 
OBJECTIVE: Osteoarthritis (OA) is a chronic, degenerative disease of the articular joints. The disease presents an enormous clinical and economic burden globally, due in part to the lack of disease modifying therapies. For over a decade, OA researchers...



 

 

 

Senevirathne G, Fernandopulle SC, Richard D, Baumgart SL, Christensen AL, Fabbri M, Höppner J, Jüppner H, Li P, Bothe V, et al. [The evolution of hominin bipedalism in two steps.](/publication/evolution-hominin-bipedalism-two-steps) Nature. 2025;645(8082):952–963. doi:10.1038/s41586-025-09399-9



 

 

Senevirathne G, Fernandopulle SC, Richard D, Baumgart SL, Christensen AL, Fabbri M, Höppner J, Jüppner H, Li P, Bothe V, et al. [The evolution of hominin bipedalism in two steps.](/publication/evolution-hominin-bipedalism-two-steps) Nature. 2025;645(8082):952–963. doi:10.1038/s41586-025-09399-9



 

 

 

- add\_circle\_outline do\_not\_disturb\_on Abstract
 
Bipedalism is a human-defining trait. It is made possible by the familiar, bowl-shaped pelvis, whose short, wide iliac blades curve along the sides of the body to stabilize walking and support internal organs and a large-brained, broad-shouldered baby...



 

 

 

Masson AO, Devine J, Das N, Coveney CR, Hallgrimsson B, Liu Z, Capellini TD, Biernaskie JA, Edwards B, Krawetz RJ. [Femur Shape Changes in Prg4-Deficient Mice: Morphological Insights Into Joint Well-Being.](/publication/femur-shape-changes-prg4-deficient-mice-morphological-insights-joint-well-being) FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 2025;39(16):e70974. doi:10.1096/fj.202501775R



 

 

Masson AO, Devine J, Das N, Coveney CR, Hallgrimsson B, Liu Z, Capellini TD, Biernaskie JA, Edwards B, Krawetz RJ. [Femur Shape Changes in Prg4-Deficient Mice: Morphological Insights Into Joint Well-Being.](/publication/femur-shape-changes-prg4-deficient-mice-morphological-insights-joint-well-being) FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 2025;39(16):e70974. doi:10.1096/fj.202501775R



 

 

 

- add\_circle\_outline do\_not\_disturb\_on Abstract
 
Many studies have reported on the role of Proteoglycan-4 (PRG4, aka lubricin) in the reduction of friction between cartilage surfaces with a specific focus on chondroprotection within the joint. Disruption of the Prg4 gene in humans and mice leads to...



 

 

 

Coveney CR, Capellini TD. [Mechanoepigenetics in musculoskeletal disease.](/publication/mechanoepigenetics-musculoskeletal-disease) Osteoarthritis and cartilage. 2025. doi:10.1016/j.joca.2025.05.012



 

 

Coveney CR, Capellini TD. [Mechanoepigenetics in musculoskeletal disease.](/publication/mechanoepigenetics-musculoskeletal-disease) Osteoarthritis and cartilage. 2025. doi:10.1016/j.joca.2025.05.012



 

 

 

- add\_circle\_outline do\_not\_disturb\_on Abstract
 
This review explores the intricate interplay between genetic variants, mechanical forces, and the epigenetic landscape (defined as 'mechanoepigenetics'), particularly in the context of musculoskeletal (MSK) diseases such as osteoarthritis. Whilst our...



 

 

 

Taye N, Karoulias SZ, Balic Z, Wang LW, Willard BB, Martin D, Richard D, Okamoto AS, Capellini TD, Apte SS, et al. [Combined ADAMTS10 and ADAMTS17 inactivation exacerbates bone shortening and compromises extracellular matrix formation.](/publication/combined-adamts10-and-adamts17-inactivation-exacerbates-bone-shortening-and-compromises) bioRxiv : the preprint server for biology. 2025. doi:10.1101/2025.01.23.634616



 

 

Taye N, Karoulias SZ, Balic Z, Wang LW, Willard BB, Martin D, Richard D, Okamoto AS, Capellini TD, Apte SS, et al. [Combined ADAMTS10 and ADAMTS17 inactivation exacerbates bone shortening and compromises extracellular matrix formation.](/publication/combined-adamts10-and-adamts17-inactivation-exacerbates-bone-shortening-and-compromises) bioRxiv : the preprint server for biology. 2025. doi:10.1101/2025.01.23.634616



 

 

 

- add\_circle\_outline do\_not\_disturb\_on Abstract
 
Weill-Marchesani syndrome (WMS) is characterized by severe short stature, short hands and feet (brachydactyly), joint contractures, tight skin, and heart valve, eye, and skin anomalies. Whereas recessive WMS is caused by mutations in , , or , dominant WMS...



 

 

 

Richard D, Muthuirulan P, Young M, Yengo L, Vedantam S, Marouli E, Bartell E, Consortium G, Hirschhorn J, Capellini TD. [Functional genomics of human skeletal development and the patterning of height heritability.](/publication/functional-genomics-human-skeletal-development-and-patterning-height-heritability) Cell. 2025;188(1):15–32.e24. doi:10.1016/j.cell.2024.10.040



 

 

Richard D, Muthuirulan P, Young M, Yengo L, Vedantam S, Marouli E, Bartell E, Consortium G, Hirschhorn J, Capellini TD. [Functional genomics of human skeletal development and the patterning of height heritability.](/publication/functional-genomics-human-skeletal-development-and-patterning-height-heritability) Cell. 2025;188(1):15–32.e24. doi:10.1016/j.cell.2024.10.040



 

 

 

- add\_circle\_outline do\_not\_disturb\_on Abstract
 
Underlying variation in height are regulatory changes to chondrocytes, cartilage cells comprising long-bone growth plates. Currently, we lack knowledge on epigenetic regulation and gene expression of chondrocytes sampled across the human skeleton, and...



 

 

 

 



### 2024

Coveney CR, Maridas D, Chen H, Muthuirulan P, Liu Z, Jagoda E, Yarlagadda S, Movahhedi M, Proffen B, Rosen V, et al. [Complex regulatory interactions at shape joint morphology and osteoarthritis disease risk.](/publication/complex-regulatory-interactions-shape-joint-morphology-and-osteoarthritis-disease-risk) bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.11.01.621374



 

 

Coveney CR, Maridas D, Chen H, Muthuirulan P, Liu Z, Jagoda E, Yarlagadda S, Movahhedi M, Proffen B, Rosen V, et al. [Complex regulatory interactions at shape joint morphology and osteoarthritis disease risk.](/publication/complex-regulatory-interactions-shape-joint-morphology-and-osteoarthritis-disease-risk) bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.11.01.621374



 

 

 

- add\_circle\_outline do\_not\_disturb\_on Abstract
 
Our ability to pinpoint causal variants using GWAS is dependent on understanding the dynamic epigenomic and epistatic context of each associated locus. Being the best studied skeletal locus, associates with many diseases and has a complex cis-regulatory...



 

 

 

 



 

 

 

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