Mariel Young

The roles of TGF-β, Wnt, and MAPK signaling pathways in joint lineage specification in vitro and ex vivo

Suyash Raj, Thomas Cutia, Stefano Menghini, Mireia Alemany‐Ribes et autres

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 dual reporter mouse embryonic stem cell (mESC) …

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Functional genomics of human skeletal development and the patterning of height heritability

Daniel J. Richard, Pushpanathan Muthuirulan, Mariel Young, Loïc Yengo et autres

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 therefore we cannot understand basic regulatory mechanisms controlling height …

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The developmental impacts of natural selection on human pelvic morphology

Mariel Young, Daniel J. Richard, Mark W. Grabowski, Benjamin Miller Auerbach et autres

Evolutionary responses to selection for bipedalism and childbirth have shaped the human pelvis, a structure that differs substantially from that in apes. Morphology related to these factors is present by birth, yet the developmental-genetic mechanisms governing pelvic shape remain largely unknown. Here, …

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Author Correction: Joint disease-specificity at the regulatory base-pair level

Pushpanathan Muthuirulan, Dewei Zhao, Mariel Young, Daniel J. Richard et autres

In this article the funding from ‘the Faculty Council at Boston Children’s Hospital’ was omitted. The original article has been corrected.

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Joint disease-specificity at the regulatory base-pair level

Pushpanathan Muthuirulan, Dewei Zhao, Mariel Young, Daniel J. Richard et autres

Given the pleiotropic nature of coding sequences and that many loci exhibit multiple disease associations, it is within non-coding sequence that disease-specificity likely exists. Here, we focus on joint disorders, finding among replicated loci, that GDF5 exhibits over twenty distinct associations, and …

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Separate regulatory variants at GDF5-UQCC1 underlie common knee osteoarthritis risk and developmental dysplasia of the hip

Terence Dante Capellini, Pushpanathan Muthuirulan, Z. Liu, Ata M. Kiapour et autres

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Genome-wide association of phenotypes based on clustering patterns of hand osteoarthritis identify WNT9A as novel osteoarthritis gene

Cindy Germaine Boer, Michelle S. Yau, Sarah J. Rice, Rodrigo Coutinho de Almeida et autres

Background Despite recent advances in the understanding of the genetic architecture of osteoarthritis (OA), only two genetic loci have been identified for OA of the hand, in part explained by the complexity of the different hand joints and heterogeneity of OA pathology. …

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Separate regulatory variants at GDF5-UQCC1 underlie common knee osteoarthritis risk and developmental dysplasia of the hip

Terence Dante Capellini, Pushpanathan Muthuirulan, Ata M. Kiapour, Z. Liu et autres

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Osteoarthritis-associated epigenetic effects operate in cartilage during human fetal development

Sarah J. Rice, Julia Falk, Yulia S. Kehayova, Eleanor L. Parker et autres

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Evolutionary Selection and Constraint on Human Knee Chondrocyte Regulation Impacts Osteoarthritis Risk

Daniel J. Richard, Zun Liu, Jiaxue Cao, Ata M. Kiapour et autres

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Meta-Analysis of Genomewide Association Studies Reveals Genetic Variants for Hip Bone Geometry

Yi‐Hsiang Hsu, Karol Estrada, Evangelos Evangelou, Cheryl L. Ackert‐Bicknell et autres

Hip geometry is an important predictor of fracture. We performed a meta‐analysis of GWAS studies in adults to identify genetic variants that are associated with proximal femur geometry phenotypes. We analyzed four phenotypes: (i) femoral neck length; (ii) neck‐shaft angle; (iii) femoral …

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Development of the articular joint: a still evolving model and implications for OA

Sara Solomon Raj, Thomas Cutia, Mariel Young, Terence Dante Capellini et autres

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