2002
New GH-1 gene mutations: expanding the spectrum of causes of isolated growth hormone deficiency.
Mullis PE, Deladoëy J, Dannies PS. New GH-1 gene mutations: expanding the spectrum of causes of isolated growth hormone deficiency. Journal Of Pediatric Endocrinology And Metabolism 2002, 15 Suppl 5: 1301-10. PMID: 12510984.Peer-Reviewed Original ResearchConceptsSecretory pathwayDNA/RNA levelIGHD type IIGH-1 gene alterationsCellular biological mechanismsBasis of inheritanceDistinct familial typesPhenotype resultsGH-1 gene mutationsMolecular analysisGenetic causeBiological mechanismsRNA levelsGene alterationsGene mutationsPathwaySame familyType IIFamilyMutationsInheritanceFamilial typePossible mechanismWide varietyMechanism
2000
Autosomal Dominant Growth Hormone (GH) Deficiency Type II: The Del32–71-GH Deletion Mutant Suppresses Secretion of Wild-Type GH*
Lee M, Wajnrajch M, Kim S, Plotnick L, Wang J, Gertner J, Leibel R, Dannies P. Autosomal Dominant Growth Hormone (GH) Deficiency Type II: The Del32–71-GH Deletion Mutant Suppresses Secretion of Wild-Type GH*. Endocrinology 2000, 141: 883-890. DOI: 10.1210/en.141.3.883.Peer-Reviewed Original ResearchWild-type GHGH deficiency type IIGrowth hormoneWild-type human GHSecretory pathway functionGH deficiencyAutosomal dominant formHuman GHDel32Neuroendocrine cell lineShort statureHuman PRLNormal alleleTransient transfectionCell linesPosttranslational effectWild-typeTransfected COSDecreased synthesisPRLIntracellular stabilityPathway functionCHO cellsType IISuppressed accumulation