Genetic disorders involving the skeletal system arise through disturbances in the complex
processes of skeletal development, growth and homeostasis and remain a diagnostic …

In humans, low peak bone mass is a significant risk factor for osteoporosis. We report that
LRP5, encoding the low-density lipoprotein receptor-related protein 5, affects bone mass …

Preparation of mouse genomic DNA for PCR is costly and laborious, primarily because of
the difficulty in physically separating DNA from other tissue components. This level of …

Craniosynostosis, the premature fusion of calvarial sutures, is a common developmental
anomaly that causes abnormal skull shape. The locus for one autosomal dominant form of …

… Skin fibroblasts were cultured in Dulbecco's modified Eagle's Medium with 10% fetal calf
serum and antibiotics (penicillin 100 U/ml, streptomycin 100 µg/ml, amphotericin B 0.25 µg/ml), …

Venous malformations (VMs), the most common errors of vascular morphogenesis in humans,
are composed of dilated, serpiginous channels. The walls of the channels have a variable …

… As a positive control, one sample was incubated with 300 U/ml of Dnase I in 50 mM Tris-HCl,
1 mg/ml BSA, pH 7.5, to induce DNA double-strand breaks. For PCNA staining, sections …

Bone is a dynamic tissue that is subject to the balanced processes of bone formation and
bone resorption. Imbalance can give rise to skeletal pathologies with increased bone density. …

… Warman. The goal was to revise and update the last (2015) edition of the Nosology. Prior
to this meeting, two to three curators were appointed for each group of disorders listed in the …

… Cells were transiently transfected with Topflash and Renilla reporters and then cultured
in the presence of combinations of 20 mM LiCl, 50 ng/ml Wnt3a, and 50 ng/ml Dkk1. Wnt3a …