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 …

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 …

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 …

[HTML][HTML] A human embryonic limb cell atlas resolved in space and time

B Zhang, P He, JEG Lawrence, S Wang, E Tuck… - Nature, 2023 - nature.com
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 …

Notch signaling: its essential roles in bone and craniofacial development

M Pakvasa, P Haravu, M Boachie-Mensah, A Jones… - Genes & diseases, 2021 - Elsevier
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 …

Spop promotes skeletal development and homeostasis by positively regulating Ihh signaling

H Cai, A Liu - Proceedings of the National Academy of …, 2016 - National Acad Sciences
Indian Hedgehog (Ihh) regulates chondrocyte and osteoblast differentiation through the
Glioma-associated oncogene homolog (Gli) transcription factors. Previous in vitro studies …

New developments in the genetic diagnosis of short stature

YH Jee, J Baron, O Nilsson - Current opinion in pediatrics, 2018 - journals.lww.com
Isolated growth disorders are often monogenic. Specific genetic causes typically have
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

J Tian, L Ling, M Shboul, H Lee, B O'Connor… - The American Journal of …, 2010 - cell.com
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 …

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies

L Sentchordi-Montané, S Benito-Sanz… - European Journal of …, 2021 - academic.oup.com
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 …

An evolutionary genomic perspective on the breeding of dwarf chickens

MS Wang, NO Otecko, S Wang, DD Wu… - Molecular Biology …, 2017 - academic.oup.com
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 …