Molecular and cellular basis of isolated dominant-negative growth hormone deficiency, IGHD type II: Insights on the secretory pathway of peptide hormones

Hormone Research

Volumn 58, Issue 2, 2002, Pages 53-66

  Mullis, Primus E ^a   Deladoëy, Johnny ^a   Dannies, Priscilla S ^b  

^a UNIVERSITY OF BERN   (Switzerland)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Endoplasmatic reticulum; Golgi apparatus; Growth hormone; Isolated growth hormone deficiency; Secretory pathway; Vesicles

Indexed keywords

DNA; GROWTH HORMONE; PEPTIDE HORMONE; RNA;

AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CYTOLOGY; DISEASE CLASSIFICATION; FAMILIAL DISEASE; GENE MUTATION; GROWTH HORMONE DEFICIENCY; HORMONE RELEASE; HUMAN; INHERITANCE; ISOLATED GROWTH HORMONE DEFICIENCY; MOLECULAR BIOLOGY; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; REVIEW; X CHROMOSOME LINKAGE;

AMINO ACID SEQUENCE; GENES, DOMINANT; HUMAN GROWTH HORMONE; HUMANS; MODELS, MOLECULAR; PEPTIDE HORMONES; PITUITARY GLAND;

EID: 0036039346     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000064663     Document Type: Review

References (65)

1. Inherited defects in growth hormone synthesis and action
2. Prevalence of severe growth hormone deficiency
3. Causes of short stature: A community study of children in Newcastle upon Tyne
4. Aetiology of idiopathic growth hormone deficiency in England and Wales
5. Utah growth study: Growth standards and the prevalence of growth hormone deficiency
6. Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency
7. Growth hormone antibodies in patients treated with different preparations of human growth hormone (hGH)
8. Human growth hormone deletion without antibody formation or growth arrest during treatment: A new disease entity?
9. Prevalence of human growth hormone-1 gene deletions among patients with isolated growth hormone deficiency from different populations
10. Screening for growth hormone gene deletions in patients with isolated growth hormone deficiency
11. Hot spots for growth hormone gene deletions in homologous regions outside Alu repeats
12. Genetics of the growth hormone axis
13. X-linked hypogammaglobulinemia and isolated growth hormone deficiency
14. Confirmation of X-linked hypogammaglobulinemia with isolated growth hormone deficiency as a disease entity
15. Familial growth hormone deficiency: A model of dominant and recessive mutations affecting a monomeric protein
16. Familial isolated growth hormone deficiency with slight height reduction due to a heterozygote mutation in GH gene
17. An exon splice enhancer mutation causes autosomal dominant GH deficiency
18. Arg183His, a new mutational 'hot-spot' in the growth hormone (GH) gene causing isolated GH deficiency type II
19. Protein hormone storage in secretory granules: Mechanisms for concentration and sorting
20. Protein folding and deficiencies caused by dominant-negative mutants of hormones
21. Concentrating hormones into secretory granules: Layers of control
22. Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism
23. Molecular basis of autosomal dominant neurohypophyseal diabetes insipidus: Cellular toxicity caused by the accumulation of mutant vasopressin precursors within the endoplasmatic reticulum
24. Folding of secretory and membrane proteins
25. The molecular biology of cystic fibrosis
26. The mechanism of Z a1-antitrypsin accumulation in the liver
27. BiP binds type I procollagen pro a chain with mutations in the carboxy-terminal propeptide synthesized by cells from patients with osteogenesis imperfecta
28. Protein oligomerization in the endoplasmic reticulum
29. Setting the standards: Quality control in the secretory pathway
30. Post-translational quality control: Folding, refolding and degrading proteins
31. Ubiquitin and its role in neurodegeneration
32. Defective protein folding as a basis of human disease
33. The ubiquitin-proteasome proteolytic pathway
34. The ubiquitin-proteasome pathway and pathogenesis of human diseases
35. Proteasome-dependent endoplasmatic reticulum-associated protein degradation: An unconventional route to a familiar fate
36. Endoplasmatic reticulum degradation: Reverse protein flow of no return
37. Endocrinopathies in the family of endoplasmatic reticulum (ER) storage diseases: Disorders of protein trafficking and the role of ER molecular chaperones
38. ER-to-Golgi transport visualized in living cells
39. Golgi membrane dynamics: Video essay
40. Sorting and storage during granule biosynthesis: Looking backward and looking forward
41. Trafficking/sorting and granule biogenesis in the beta-cell
42. Formation of secretory granules in the Golgi apparatus of prolactin cells in the rat pituitary gland: A stereoscopic study
43. Inhibition of rat prolactin (PRL) storage by coexpression of human PRL
44. Human growth hormone and extracellular domain of its receptor: Crystal structure of the complex
45. Dimerization of the extracellular domain of the human growth hormone receptor by a single hormone molecule
46. Mechanisms responsible for dominant expression of human growth hormone mutations
47. Autosomal dominant growth hormone deficiency type II: The des32-71-growth hormone deletion mutant suppresses secretion of the wild-type growth hormone
48. Autosomal dominant GH deficiency due to an Arg183His GH-1 gene mutation: Clinical and molecular evidence of impaired regulated GH secretion
49. Misfolded growth hormone causes fragmentation of the Golgi apparatus and disrupts endoplasmic reticulum-to-Golgi traffic
50. 2+
51. The molecular genetics of growth hormone deficiency
52. A novel mutation at the donor splice site of intron 3 of the GH-I gene in a patient with isolated growth hormone deficiency
53. Mutations in intron 3 of GH-1 gene associated with isolated GH deficiency type II in three Japanese families
54. A recurring dominant-negative mutation causes autosomal dominant growth hormone deficiency: A clinical research center study
55. Two different 5′ splice site mutations in the growth hormone gene causing autosomal dominant growth hormone deficiency
56. Screening for growth hormone (GH) gene splice-site mutations in sporadic cases with severe isolated GH deficiency using ectopic transcript analysis
57. Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency
58. A novel mechanism of aberrant pre-mRNA splicing in humans
59. Characterization of an intron splice enhancer that regulates alternative splicing of human GH pre-mRNA
60. A new mutation causing inherited growth hormone deficiency: A compound heterozygote of a 6.7 kb deletion and a two base deletion in the third exon of the GH-1 gene
61. Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon
62. Aberrant mRNAs with extended 3′ UTRs are substrates for rapid degradation by mRNA surveillance
63. Acquisition of Lubrol insolubility, a common step for growth hormone and prolactin in the secretory pathway of neuroendocrine cells
64. Dimerization of human growth hormone by zinc
65. Inhibition of growth hormone (GH) secretion by a mutant GH-I gene product in neuroendocrine cells containing secretory granules: An implication for isolated GH deficiency inherited in an autosomal dominant manner