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
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.
Cohen E et al.
Human Mutation, 2019
Molecular and clinical aspects of GHRH receptor mutations.
Corazzini V et al.
Endocrine Development, 2013
Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD).
Alatzoglou KS et al.
Indian Journal of Pediatrics, 2012
Genetic causes and treatment of isolated growth hormone deficiency-an update.
Alatzoglou KS et al.
Nature Reviews. Endocrinology, 2010
Genetics of isolated growth hormone deficiency.
Mullis PE
Journal of Clinical Research in Pediatric Endocrinology, 2010
The candidate gene approach to the diagnosis of monogenic disorders.
Dattani MT
Hormone Research, 2009
A chemical mutagenesis screen to identify modifier genes that interact with growth hormone and TGF-beta signaling pathways.
Mohan S et al.
Bone, 2008
Distinct structural and functional roles of conserved residues in the first extracellular domain of receptors for corticotropin-releasing factor and related G-protein-coupled receptors.
Perrin MH et al.
The Journal of Biological Chemistry, 2007
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 mouse with targeted ablation of the growth hormone-releasing hormone gene: a new model of isolated growth hormone deficiency.
Alba M et al.
Endocrinology, 2004
Aspartate(69) of the calcitonin-like receptor is required for its functional expression together with receptor-activity-modifying proteins 1 and -2.
Ittner LM et al.
Biochemical and Biophysical Research Communications, 2004
Haplotype analysis of the growth hormone releasing hormone receptor locus in three apparently unrelated kindreds from the indian subcontinent with the identical mutation in the GHRH receptor.
Wajnrajch MP et al.
American Journal of Medical Genetics. Part A, 2003
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
Molecular pathology of familial central diabetes insipidus.
Meier CA
European Journal of Endocrinology, 1996
Growth hormone-releasing hormone (GHRH) receptor mutation and dwarfism: after the mouse, the human.
Bertherat J
European Journal of Endocrinology, 1996
Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse.
Wajnrajch MP et al.
Nature Genetics, 1996
Investigation of growth hormone releasing hormone receptor structure and activity using yeast expression technologies.
Kajkowski EM et al.
Journal of Receptor and Signal Transduction Research, 0