Notch signaling and the skeleton
S Zanotti, E Canalis - Endocrine reviews, 2016 - academic.oup.com
Notch 1 to 4 receptors are important determinants of cell fate and function, and Notch
signaling plays an important role in skeletal development and bone remodeling. After direct …
signaling plays an important role in skeletal development and bone remodeling. After direct …
Notch in skeletal physiology and disease
E Canalis - Osteoporosis International, 2018 - Springer
Abstract Notch (Notch1 through 4) are transmembrane receptors that play a fundamental
role in cell differentiation and function. Notch receptors are activated following interactions …
role in cell differentiation and function. Notch receptors are activated following interactions …
Consanguineous marriages, pearls and perils: Geneva international consanguinity workshop report
H Hamamy, SE Antonarakis, LL Cavalli-Sforza… - Genetics in …, 2011 - nature.com
Approximately 1.1 billion people currently live in countries where consanguineous
marriages are customary, and among them one in every three marriages is between …
marriages are customary, and among them one in every three marriages is between …
[HTML][HTML] A human embryonic limb cell atlas resolved in space and time
Human limbs emerge during the fourth post-conception week as mesenchymal buds, which
develop into fully formed limbs over the subsequent months. This process is orchestrated by …
develop into fully formed limbs over the subsequent months. This process is orchestrated by …
Notch signaling: its essential roles in bone and craniofacial development
Notch is a cell–cell signaling pathway that is involved in a host of activities including
development, oncogenesis, skeletal homeostasis, and much more. More specifically, recent …
development, oncogenesis, skeletal homeostasis, and much more. More specifically, recent …
Spop promotes skeletal development and homeostasis by positively regulating Ihh signaling
Indian Hedgehog (Ihh) regulates chondrocyte and osteoblast differentiation through the
Glioma-associated oncogene homolog (Gli) transcription factors. Previous in vitro studies …
Glioma-associated oncogene homolog (Gli) transcription factors. Previous in vitro studies …
New developments in the genetic diagnosis of short stature
Isolated growth disorders are often monogenic. Specific genetic causes typically have
specific biochemical and/or phenotype characteristics which are diagnostically helpful …
specific biochemical and/or phenotype characteristics which are diagnostically helpful …
Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling
We delineated a syndromic recessive preaxial brachydactyly with partial duplication of
proximal phalanges to 16.8 Mb over 4 chromosomes. High-throughput sequencing of all 177 …
proximal phalanges to 16.8 Mb over 4 chromosomes. High-throughput sequencing of all 177 …
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies
Objective Next generation sequencing (NGS) has expanded the diagnostic paradigm
turning the focus to the growth plate. The aim of the study was to determine the prevalence …
turning the focus to the growth plate. The aim of the study was to determine the prevalence …
An evolutionary genomic perspective on the breeding of dwarf chickens
The evolutionary history for dwarfism in chickens remains an enigma. Herein, we explore the
evolution of the Serama, the smallest breed of chicken. Leveraging comparative population …
evolution of the Serama, the smallest breed of chicken. Leveraging comparative population …