Cargando…
Genetic variations at the human growth hormone receptor (GHR) gene locus are associated with idiopathic short stature
GH plays an essential role in the growing child by binding to the growth hormone receptor (GHR) on target cells and regulating multiple growth promoting and metabolic effects. Mutations in the GHR gene coding regions result in GH insensitivity (dwarfism) due to a dysfunctional receptor protein. Howe...
Autores principales: | Dias, Christel, Giordano, Mara, Frechette, Rosalie, Bellone, Simonetta, Polychronakos, Constantin, Legault, Laurent, Deal, Cheri L, Goodyer, Cynthia Gates |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5661101/ https://www.ncbi.nlm.nih.gov/pubmed/28557176 http://dx.doi.org/10.1111/jcmm.13210 |
Ejemplares similares
-
Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report
por: Moia, Stefania, et al.
Publicado: (2017) -
GH responsiveness in a large multinational cohort of SGA children with short stature (NESTEGG) is related to the exon 3 GHR polymorphism
por: Tauber, M, et al.
Publicado: (2007) -
Chicken GHR natural antisense transcript regulates GHR mRNA in LMH cells
por: Zhang, Li, et al.
Publicado: (2016) -
Removal of growth hormone receptor (GHR) in muscle of male mice replicates some of the health benefits seen in global GHR−/− mice
por: List, Edward O., et al.
Publicado: (2015) -
The Exon 3-Deleted Growth Hormone Receptor (d3GHR) Polymorphism—A Favorable Backdoor Mechanism for the GHR Function
por: Falah, Ghadeer, et al.
Publicado: (2023)