Search Results - dwarfism

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Treatment of GPR101-Related, Growth Hormone-Related Disorders Such as Gigantism, Dwarfism or Acromegaly

Abstract: Microduplications of the GPR101 gene (located on chromosome Xq26.3 and encodes a G-protein coupled receptor) can result in an excess of growth hormone causing gigantism, that has an onset in early childhood. It is also associated with the growth of sporadic growth hormone producing adenomas in some patients with acromegaly. Current therapies...

Published: 4/8/2024 | Inventor(s): Adrian Daly, Albert Beckets, Fabio Faucz, Giampaolo Trivellin, Constantine Stratakis

Keywords(s): acromegaly, Dwarfism, Eunice Kennedy Shriver National Institute of Child Health an, Gigantism, GPR101, growth hormone regulation, NICHD

Category(s): Application > Therapeutics, Collaboration Sought > Collaboration, Collaboration Sought > Licensing, TherapeuticArea > Endocrinology

Fibroblast Growth Factor 3 (FGFR3) Receptor Knockin Mice

Missense mutations in Fibroblast Growth Factor Receptor 3 (FGFR3) result in several human skeletal dysplasias, including the most common form of dwarfism, achondroplasia. The NIH announces the generation of FGFR3 knockin mice, which have a Gly369Cys mutation, inserted into the mouse genome. Phenotypic analysis of the mice reveals that the FGF/FGFR3...

Published: 4/8/2024 | Inventor(s): Chuxia Deng

Keywords(s): Achondroplasia, Dwarfism, RXXXXX, Skeletal dysplasias

Category(s): Collaboration Sought > Licensing, Application > Research Materials