Human-specific genetics: new tools to explore the molecular and cellular basis of human evolution

AA Pollen, U Kilik, CB Lowe, JG Camp - Nature Reviews Genetics, 2023 - nature.com
Our ancestors acquired morphological, cognitive and metabolic modifications that enabled
humans to colonize diverse habitats, develop extraordinary technologies and reshape the …

Quercetin and osteoarthritis: a mechanistic review on the present documents

F Samadi, MS Kahrizi, F Heydari, R Arefnezhad… - Pharmacology, 2022 - karger.com
Background: Osteoarthritis (OA), as one of the chronic debilitating conditions, affects 15% of
people globally and is linked with serious problems, such as cardiovascular diseases …

The developmental impacts of natural selection on human pelvic morphology

M Young, D Richard, M Grabowski, BM Auerbach… - Science …, 2022 - science.org
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 …

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

D Richard, P Muthuirulan, M Young, L Yengo… - Cell, 2024 - cell.com
Underlying variation in height are regulatory changes to chondrocytes, cartilage cells
comprising long-bone growth plates. Currently, we lack knowledge on epigenetic regulation …

Genetic risk of osteoarthritis operates during human skeletogenesis

SJ Rice, A Brumwell, J Falk… - Human Molecular …, 2023 - academic.oup.com
Osteoarthritis (OA) is a polygenic disease of older people resulting in the breakdown of
cartilage within articular joints. Although it is a leading cause of disability, there are no …

Epigenetics as a mediator of genetic risk in osteoarthritis: role during development, homeostasis, aging, and disease progression

D Richard, TD Capellini… - American Journal of …, 2023 - journals.physiology.org
The identification of genomic loci that are associated with osteoarthritis (OA) has provided a
starting point for understanding how genetic variation activates catabolic processes in the …

Non-coding variants in cancer: mechanistic insights and clinical potential for personalized medicine

M Lange, R Begolli, A Giakountis - Non-coding RNA, 2021 - mdpi.com
The cancer genome is characterized by extensive variability, in the form of Single Nucleotide
Polymorphisms (SNPs) or structural variations such as Copy Number Alterations (CNAs) …

Mediation of the Same Epigenetic and Transcriptional Effect by Independent Osteoarthritis Risk–Conferring Alleles on a Shared Target Gene, COLGALT2

YS Kehayova, JM Wilkinson, SJ Rice… - Arthritis & …, 2023 - Wiley Online Library
Objective Over 100 DNA variants have been associated with osteoarthritis (OA), including
rs1046934, located within a linkage disequilibrium block encompassing part of COLGALT2 …

Translating osteoarthritis genetics research: challenging times ahead

J Loughlin - Trends in Molecular Medicine, 2022 - cell.com
The ultimate goal of molecular genetic studies of human diseases is to translate the
discoveries for patient benefit. For diseases that lack licensed disease-modifying …

3D chromatin structure in chondrocytes identifies putative osteoarthritis risk genes

E Thulson, ES Davis, S D'Costa, PR Coryell… - Genetics, 2022 - academic.oup.com
Genome-wide association studies have identified over 100 loci associated with osteoarthritis
risk, but the majority of osteoarthritis risk variants are noncoding, making it difficult to identify …