Associated Papers
Genetic causes of growth hormone insensitivity beyond GHR.
Hwa V et al.
Reviews in Endocrine & Metabolic Disorders, 2021
Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency.
Vairamani K et al.
Journal of the Endocrine Society, 2017
IGF-I in human growth: lessons from defects in the GH-IGF-I axis.
Hwa V et al.
Nestle Nutrition Institute Workshop Series, 2013
A novel GHR intronic variant, c.266+83G>T , activates a cryptic 5' splice site causing severe GHR deficiency and classical GH insensitivity syndrome.
Feigerlova E et al.
Hormone Research in Paediatrics, 2013
Growth hormone-induced JAK2 signaling and GH receptor down-regulation: role of GH receptor intracellular domain tyrosine residues.
Deng L et al.
Endocrinology, 2012
The growth hormone receptor (GHR) c.899dupC mutation functions as a dominant negative: insights into the pathophysiology of intracellular GHR defects.
Derr MA et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
A novel Y332C missense mutation in the intracellular domain of the human growth hormone receptor does not alter STAT5b signaling: redundancy of GHR intracellular tyrosines involved in STAT5b signaling.
Derr MA et al.
Hormone Research in Paediatrics, 2011
Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth.
Savage MO et al.
Frontiers in Endocrinology, 2011
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