Genetics of obesity: what we have learned over decades of research

C Bouchard - Obesity, 2021 - Wiley Online Library
There is a genetic component to human obesity that accounts for 40% to 50% of the
variability in body weight status but that is lower among normal weight individuals (about …

Pregnancy-associated plasma protein (PAPP)-A2 in physiology and disease

V Barrios, JA Chowen, Á Martín-Rivada… - Cells, 2021 - mdpi.com
The growth hormone (GH)/insulin-like growth factor (IGF) axis plays fundamental roles
during development, maturation, and aging. Members of this axis, composed of various …

MC3R links nutritional state to childhood growth and the timing of puberty

BYH Lam, A Williamson, S Finer, FR Day, JA Tadross… - Nature, 2021 - nature.com
The state of somatic energy stores in metazoans is communicated to the brain, which
regulates key aspects of behaviour, growth, nutrient partitioning and development. The …

Exploiting the GTEx resources to decipher the mechanisms at GWAS loci

AN Barbeira, R Bonazzola, ER Gamazon, Y Liang… - Genome biology, 2021 - Springer
The resources generated by the GTEx consortium offer unprecedented opportunities to
advance our understanding of the biology of human diseases. Here, we present an in-depth …

Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses

AR Barton, MA Sherman, RE Mukamel, PR Loh - Nature genetics, 2021 - nature.com
Exome association studies to date have generally been underpowered to systematically
evaluate the phenotypic impact of very rare coding variants. We leveraged extensive …

P2RY8 variants in lupus patients uncover a role for the receptor in immunological tolerance

Y He, AE Gallman, C Xie, Q Shen, J Ma… - Journal of Experimental …, 2021 - rupress.org
B cell self-tolerance is maintained through multiple checkpoints, including restraints on
intracellular signaling and cell trafficking. P2RY8 is a receptor with established roles in …

The cytokine interleukin-11 crucially links bone formation, remodeling and resorption

B Kespohl, T Schumertl, J Bertrand, J Lokau… - Cytokine & growth factor …, 2021 - Elsevier
Bone development is a complex process that requires the activity of several different
signaling pathways and cell types. It involves the coordinated action of osteoclasts (cells that …

Morphological characters can strongly influence early animal relationships inferred from phylogenomic data sets

JS Neumann, R Desalle, A Narechania… - Systematic …, 2021 - academic.oup.com
There are considerable phylogenetic incongruencies between morphological and
phylogenomic data for the deep evolution of animals. This has contributed to a heated …

Systematic single-variant and gene-based association testing of thousands of phenotypes in 426,370 UK Biobank exomes

KJ Karczewski, M Solomonson, KR Chao, JK Goodrich… - Medrxiv, 2021 - medrxiv.org
Genome-wide association studies have successfully discovered thousands of common
variants associated with human diseases and traits, but the landscape of rare variation in …

The genetic architecture and population genomic signatures of glyphosate resistance in Amaranthus tuberculatus

JM Kreiner, PJ Tranel, D Weigel… - Molecular …, 2021 - Wiley Online Library
Much of what we know about the genetic basis of herbicide resistance has come from
detailed investigations of monogenic adaptation at known target‐sites, despite the …