Associated Papers
Growth hormone treatment outcomes in children with genetic isolated growth hormone deficiency.
Aouchiche K et al.
European Journal of Pediatrics, 2025
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
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
The Molecular Basis of Congenital Hypopituitarism and Related Disorders.
Gregory LC et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
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
Identification of novel GHRHR and GH1 mutations in patients with isolated growth hormone deficiency.
Birla S et al.
Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 2016
Novel growth hormone-releasing hormone receptor gene mutations in Turkish children with isolated growth hormone deficiency.
Arman A et al.
Journal of Clinical Research in Pediatric Endocrinology, 2014
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
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
[Growth or somatotrophic hormone: new perspectives in isolated GH deficiency after description of the mutation in the GHRH receptor gene in individuals of Itabaianinha County, Brazil].
Souza AH et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2004
Decreased expression of the GHRH receptor gene due to a mutation in a Pit-1 binding site.
Salvatori R et al.
Molecular Endocrinology (baltimore, Md.), 2002
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