TGF-β and BMP signaling in osteoblast, skeletal development, and bone formation, homeostasis and disease

M Wu, G Chen, YP Li - Bone research, 2016 - nature.com
Transforming growth factor-beta (TGF-β) and bone morphogenic protein (BMP) signaling
has fundamental roles in both embryonic skeletal development and postnatal bone …

BMP signalling in skeletal development, disease and repair

VS Salazar, LW Gamer, V Rosen - Nature reviews endocrinology, 2016 - nature.com
Since the identification in 1988 of bone morphogenetic protein 2 (BMP2) as a potent inducer
of bone and cartilage formation, BMP superfamily signalling has become one of the most …

[HTML][HTML] Bone Morphogenetic Protein (BMP) signaling in development and human diseases

RN Wang, J Green, Z Wang, Y Deng, M Qiao… - Genes & diseases, 2014 - Elsevier
Abstract Bone Morphogenetic Proteins (BMPs) are a group of signaling molecules that
belongs to the Transforming Growth Factor-β (TGF-β) superfamily of proteins. Initially …

The missing link between genetic association and regulatory function

NJ Connally, S Nazeen, D Lee, H Shi… - Elife, 2022 - elifesciences.org
The genetic basis of most traits is highly polygenic and dominated by non-coding alleles. It is
widely assumed that such alleles exert small regulatory effects on the expression of cis …

The promise of whole-exome sequencing in medical genetics

B Rabbani, M Tekin, N Mahdieh - Journal of human genetics, 2014 - nature.com
Massively parallel DNA-sequencing systems provide sequence of huge numbers of different
DNA strands at once. These technologies are revolutionizing our understanding in medical …

The role of TGF-β/SMAD4 signaling in cancer

M Zhao, L Mishra, CX Deng - International journal of biological …, 2018 - pmc.ncbi.nlm.nih.gov
Transforming growth factor β (TGF-β) signaling pathway plays important roles in many
biological processes, including cell growth, differentiation, apoptosis, migration, as well as …

FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders

LY Sakai, DR Keene, M Renard, J De Backer - Gene, 2016 - Elsevier
FBN1 encodes the gene for fibrillin-1, a structural macromolecule that polymerizes into
microfibrils. Fibrillin microfibrils are morphologically distinctive fibrils, present in all …

Clinical application of exome sequencing in undiagnosed genetic conditions

AC Need, V Shashi, Y Hitomi, K Schoch… - Journal of medical …, 2012 - jmg.bmj.com
Background There is considerable interest in the use of next-generation sequencing to help
diagnose unidentified genetic conditions, but it is difficult to predict the success rate in a …

BMP signaling controls muscle mass

R Sartori, E Schirwis, B Blaauw, S Bortolanza, J Zhao… - Nature …, 2013 - nature.com
Cell size is determined by the balance between protein synthesis and degradation. This
equilibrium is affected by hormones, nutrients, energy levels, mechanical stress and …

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

MR Geisheker, G Heymann, T Wang, BP Coe… - Nature …, 2017 - nature.com
Although de novo missense mutations have been predicted to account for more cases of
autism than gene-truncating mutations, most research has focused on the latter. We …