The NOTCH gene was identified approximately 110 years ago. Classical studies have
revealed that NOTCH signaling is an evolutionarily conserved pathway. NOTCH receptors …

Notch signaling is an evolutionarily highly conserved signaling mechanism, but in contrast to
signaling pathways such as Wnt, Sonic Hedgehog, and BMP/TGF-β, Notch signaling occurs …

Variant pathogenicity classifiers such as SIFT, PolyPhen-2, CADD, and MetaLR assist in
interpretation of the hundreds of rare, missense variants in the typical patient genome by …

Exome sequencing—the targeted sequencing of the subset of the human genome that is
protein coding—is a powerful and cost-effective new tool for dissecting the genetic basis of …

The past 15 years have witnessed tremendous progress in the molecular understanding of
osteoblasts, the main bone-forming cells in the vertebrate skeleton. In particular, all of the …

Notch signaling is evolutionarily conserved and operates in many cell types and at various
stages during development. Notch signaling must therefore be able to generate appropriate …

Work over the past 25 years has resulted in the identification of genes responsible for~ 50%
of the estimated 7,000 rare monogenic diseases, and it is predicted that most of the …

Much of the mammalian skeleton is composed of bones that originate from cartilage
templates through endochondral ossification. Elucidating the mechanisms that control …

Osteopetrosis is a genetic condition of increased bone mass, which is caused by defects in
osteoclast formation and function. Both autosomal recessive and autosomal dominant forms …

Fucose is a 6-deoxy hexose in the l-configuration found in a large variety of different
organisms. In mammals, fucose is incorporated into N-glycans, O-glycans and glycolipids by …