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 varietyMechanismProlonged Retention after Aggregation into Secretory Granules of Human R183H-Growth Hormone (GH), a Mutant that Causes Autosomal Dominant GH Deficiency Type II
Zhu YL, Conway-Campbell B, Waters MJ, Dannies PS. Prolonged Retention after Aggregation into Secretory Granules of Human R183H-Growth Hormone (GH), a Mutant that Causes Autosomal Dominant GH Deficiency Type II. Endocrinology 2002, 143: 4243-4248. PMID: 12399418, DOI: 10.1210/en.2002-220575.Peer-Reviewed Original Research
2001
Acquisition of Lubrol Insolubility, a Common Step for Growth Hormone and Prolactin in the Secretory Pathway of Neuroendocrine Cells*
Lee M, Zhu Y, Chang J, Dannies P. Acquisition of Lubrol Insolubility, a Common Step for Growth Hormone and Prolactin in the Secretory Pathway of Neuroendocrine Cells*. Journal Of Biological Chemistry 2001, 276: 715-721. PMID: 11024038, DOI: 10.1074/jbc.m008530200.Peer-Reviewed Original ResearchAnimalsAnti-Bacterial AgentsBrefeldin AChloroquineCOS CellsDinitrobenzenesEndoplasmic ReticulumEpidermal Growth FactorEstradiolHuman Growth HormoneHydrogen-Ion ConcentrationInsulinMacrolidesMutationPituitary GlandPolyethylene GlycolsProlactinProtein TransportRatsSecretory VesiclesSolubilitySubstrate SpecificityTumor Cells, CulturedUltracentrifugation
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. PMID: 10698162, DOI: 10.1210/endo.141.3.7380.Peer-Reviewed Original ResearchConceptsWild-type GHSecretory pathway functionNeuroendocrine cell lineGH deficiency type IISuppression of accumulationPathway functionTransient transfectionIntracellular stabilityCHO cellsAutosomal dominant formCell linesDecreased stabilityNormal allelePosttranslational effectGeneral suppressionCoexpressionProteinProtein folding and deficiencies caused by dominant-negative mutants of hormones
Dannies P. Protein folding and deficiencies caused by dominant-negative mutants of hormones. Vitamins & Hormones 2000, 58: 1-26. PMID: 10668393, DOI: 10.1016/s0083-6729(00)58019-4.Peer-Reviewed Original Research
1997
Inefficient secretion of human H27A-prolactin, a mutant that does not bind Zn2+.
Sun Z, Lee M, Rhee H, Arrandale J, Dannies P. Inefficient secretion of human H27A-prolactin, a mutant that does not bind Zn2+. Endocrinology 1997, 11: 1544-51. PMID: 9280069, DOI: 10.1210/mend.11.10.0002.Peer-Reviewed Original Research