Associated Papers
Mutational analysis of consanguineous families and their targeted therapy against dwarfism.
Khan F et al.
Journal of Biomolecular Structure & Dynamics, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.
Ahmad S et al.
Frontiers in Endocrinology, 2023
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Structural basis for activation of the growth hormone-releasing hormone receptor.
Zhou F et al.
Nature Communications, 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 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
Genetic causes and treatment of isolated growth hormone deficiency-an update.
Alatzoglou KS et al.
Nature Reviews. Endocrinology, 2010
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
Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency.
Alatzoglou KS 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
[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
Familial isolated growth hormone deficiency: genetics and pathophysiology.
Hayashi Y et al.
Endocrine Journal, 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
Three new mutations in the gene for the growth hormone (gh)-releasing hormone receptor in familial isolated gh deficiency type ib.
Salvatori R et al.
The Journal of Clinical Endocrinology and Metabolism, 2001