Associated Papers
A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.
Ahmad S et al.
Frontiers in Endocrinology, 2023
Structural basis for activation of the growth hormone-releasing hormone receptor.
Zhou F et al.
Nature Communications, 2020
Partial Loss of Function of the GHRH Receptor Leads to Mild Growth Hormone Deficiency.
Gregory LC et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
Novel compound heterozygous mutations of the growth hormone-releasing hormone receptor gene in a case of isolated growth hormone deficiency.
Soneda A et al.
Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 2013
Molecular and clinical aspects of GHRH receptor mutations.
Corazzini V et al.
Endocrine Development, 2013
GH-releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects.
Marui S et al.
Hormone Research in Paediatrics, 2012
Identification of a novel splicing mutation in the growth hormone (GH)-releasing hormone receptor gene in a Chinese family with pituitary dwarfism.
Wang Q et al.
Molecular and Cellular Endocrinology, 2009
A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency.
Godi M et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
Naturally-occurring missense mutations in the human growth hormone-releasing hormone receptor alter ligand binding.
Alba M et al.
The Journal of Endocrinology, 2005
A nonsense mutation (E72X) in growth hormone releasing hormone receptor (GHRHR) gene is the major cause of familial isolated growth hormone deficiency in Western region of India: founder effect suggested by analysis of dinucleotide repeat polymorphism close to GHRHR gene.
Kamijo T et al.
Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 2004
Genetic defects in GH synthesis and secretion.
Bona G et al.
European Journal of Endocrinology, 2004
Genetic characterization of growth hormone deficiency and resistance: implications for treatment with recombinant growth hormone.
Baumann G
American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice, 2002