Therapeutic modulation of Notch signalling—are we there yet?

ER Andersson, U Lendahl - Nature reviews Drug discovery, 2014 - nature.com
The Notch signalling pathway is evolutionarily conserved and is crucial for the development
and homeostasis of most tissues. Deregulated Notch signalling leads to various diseases …

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 …

Periodic formation of epithelial somites from human pluripotent stem cells

M Sanaki-Matsumiya, M Matsuda, N Gritti… - Nature …, 2022 - nature.com
During embryonic development, epithelial cell blocks called somites are periodically formed
according to the segmentation clock, becoming the foundation for the segmental pattern of …

Reconstituting human somitogenesis in vitro

Y Yamanaka, S Hamidi, K Yoshioka-Kobayashi… - Nature, 2023 - nature.com
The segmented body plan of vertebrates is established during somitogenesis, a well-studied
process in model organisms; however, the details of this process in humans remain largely …

In vitro characterization of the human segmentation clock

M Diaz-Cuadros, DE Wagner, C Budjan, A Hubaud… - Nature, 2020 - nature.com
The segmental organization of the vertebral column is established early in embryogenesis,
when pairs of somites are rhythmically produced by the presomitic mesoderm (PSM). The …

Recapitulating the human segmentation clock with pluripotent stem cells

M Matsuda, Y Yamanaka, M Uemura, M Osawa… - Nature, 2020 - nature.com
Pluripotent stem cells are increasingly used to model different aspects of embryogenesis
and organ formation. Despite recent advances in in vitro induction of major mesodermal …

NAD deficiency, congenital malformations, and niacin supplementation

H Shi, A Enriquez, M Rapadas… - … England Journal of …, 2017 - Mass Medical Soc
Background Congenital malformations can be manifested as combinations of phenotypes
that co-occur more often than expected by chance. In many such cases, it has proved difficult …

Computational tools for prioritizing candidate genes: boosting disease gene discovery

Y Moreau, LC Tranchevent - Nature Reviews Genetics, 2012 - nature.com
At different stages of any research project, molecular biologists need to choose—often
somewhat arbitrarily, even after careful statistical data analysis—which genes or proteins to …

Notch signaling in human development and disease

AL Penton, LD Leonard, NB Spinner - Seminars in cell & developmental …, 2012 - Elsevier
Mutations in Notch signaling pathway members cause developmental phenotypes that affect
the liver, skeleton, heart, eye, face, kidney, and vasculature. Notch associated disorders …

Coupling delay controls synchronized oscillation in the segmentation clock

K Yoshioka-Kobayashi, M Matsumiya, Y Niino… - Nature, 2020 - nature.com
Individual cellular activities fluctuate but are constantly coordinated at the population level
via cell–cell coupling. A notable example is the somite segmentation clock, in which the …