Genetic disorders of human growth

Journal of Pediatric Endocrinology and Metabolism

Volumn 15, Issue SUPPL. 2, 2002, Pages 701-714

  Wajnrajch, Michael P ^a  

^a WEILL CORNELL MEDICAL COLLEGE   (United States)

Author keywords

GH1; GHR; GHRELIN; GHRH; GHRHR; GHS; Somatostatin; Statural growth

Indexed keywords

GHRELIN; GROWTH HORMONE; GROWTH HORMONE BINDING PROTEIN; GROWTH HORMONE RECEPTOR; GROWTH HORMONE RELEASING FACTOR; GROWTH HORMONE RELEASING FACTOR RECEPTOR; GROWTH HORMONE SECRETAGOGUE; HOMEODOMAIN PROTEIN; HYPOPHYSIS HORMONE; INSULIN; INSULIN RECEPTOR; SOMATOMEDIN B; SOMATOMEDIN BINDING PROTEIN; SOMATOMEDIN C; SOMATOMEDIN RECEPTOR; SOMATOSTATIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR HESX1; TRANSCRIPTION FACTOR LHX3; TRANSCRIPTION FACTOR PIT 1; TRANSCRIPTION FACTOR PROP1; UNCLASSIFIED DRUG; HUMAN GROWTH HORMONE;

ARTICLE; BRAIN DEVELOPMENT; CLINICAL FEATURE; GENE MUTATION; GENETIC DISORDER; GENETIC SUSCEPTIBILITY; GROWTH HORMONE DEFICIENCY; HORMONAL REGULATION; HORMONE RECEPTOR INTERACTION; HUMAN; HYPOPHYSIS; HYPOPITUITARISM; INHERITANCE; MOUSE; NONHUMAN; ONTOGENY; PATHOGENESIS; SHORT STATURE; GENETICS; GROWTH DISORDER; REVIEW;

GROWTH DISORDERS; HUMAN GROWTH HORMONE; HUMANS; PITUITARY HORMONES; RECEPTORS, SOMATOTROPIN;

EID: 0036290540     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/jpem.2002.15.s2.701     Document Type: Article

References (78)

1. Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency
2. Multistep control of pituitary organogenesis
3. Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse
4. Heritable disorders of pituitary development
5. Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia
6. Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene
7. The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency
8. Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg→Cys at codon 120 (R120C)
9. Mutations in PROP1 cause familial combined pituitary hormone deficiency
10. "Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency
11. Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfism
12. Characteristics of the pituitary specific factor 1 gene
13. Abnormalities of the pituitary-specific transcription factor-1 gene and protein
14. A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency
15. Characterization of a growth hormone-releasing factor from a human pancreatic islet tumour
16. Gene encoding human growth hormone-releasing factor precursor: Structure, sequence, and chromosomal assignment
17. Molecular cloning and expression of a pituitary-specific receptor for growth hormone-releasing hormone
18. GHRH receptor of little mice contains a missense mutation in the extracellular domain that disrupts receptor function
19. Molecular basis of the little mouse phenotype and implications for cell type-specific growth
20. Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse
21. The dwarfs of Sindh: Severe growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene
22. Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene
23. Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene
24. Growth hormone (GH) secretion in patients with an inactivating defect of the GH-releasing hormone (GHRH) receptor is pulsatile: Evidence for a role for non-GHRH inputs into the generation of GH pulses
25. Effects of the enkephalins and enkephalin-analog on release of pituitary hormones in vitro
26. Identification of a new G-protein-linked receptor for growth hormone secretagogues
27. Ghrelin is a growth-hormone-releasing acylated peptide from stomach
28. Genomic organization of the GHRELIN gene
29. A receptor in pituitary and hypothalamus that functions in growth hormone release
30. Ghrelin, an endogenous growth hormone secretagogue, is a novel orexigenic peptide that antagonizes leptin action through the activation of hypothalamic neuropeptide Y/Y1 receptor pathway
31. Novel growth hormone secretagogues: Clinical applications
32. Hexarelin, a novel GHRP-6 analog, stimulates growth hormone (GH) release in a GH-secreting rat cell line (GHI) insensitive to GH-releasing hormone
33. Growth hormone release by the novel GH releasing peptide hexarelin in patients with homozygous beta-thalassemia
34. A low dose of ghrelin stimulates growth hormone (GH) release synergistically with GH-releasing hormone in humans
35. Preliminary evidence that GHRELIN, the natural GH secretagogue (GHS)-receptor ligand, strongly stimulates GH secretion in humans
36. Ligand activation domain of human orphan growth hormone (GH) secretagogue receptor (GHS-R) conserved from pufferfish to humans
37. Somatostatin receptor subtype specificity in human fetal pituitary cultures. Differential role of SSTR2 and SSTR5 for growth hormone, thyroid-stimulating hormone, and prolactin regulation
38. The human growth hormone locus: Nucleotide sequence, biology, and evolution
39. The human growth hormone gene locus: Structure, evolution, and allelic variations
40. Decreased expression of placental growth hormone in intrauterine growth retardation
41. The roles of placental growth hormone and placental lactogen in the regulation of human fetal growth and development
42. Isolated growth hormone (GH) deficiency type 1A associated with a double deletion in the human GH gene cluster
43. Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency
44. Molecular basis of human growth hormone gene deletions
45. Hot spots for growth hormone gene deletions in homologous regions outside of Alu repeats
46. Pathophysiology of autosomal dominant GH deficiency
47. Arg183His, a new mutational hot-spot in the growth hormone gene causing isolated GH deficiency type II
48. A recurring dominant negative mutations causes autosomal dominant growth hormone deficiency - A clinical research center study
49. Autosomal dominant growth hormone (GH) deficiency type II: The Del32-71-GH deletion mutant suppresses secretion of wild-type GH
50. A novel mechanism of aberrant pre-mRNA splicing in humans
51. Laron dwarfism and mutations of the growth hormone-receptor gene
52. A homozygous splice site mutation affecting the intracellular domain of the growth hormone (GH) receptor resulting in Laron syndrome with elevated GH-binding protein
53. Mutations of the growth hormone receptor in children with idiopathic short stature: The Growth Hormone Insensitivity Study Group
54. A dominant-negative mutation of the growth hormone receptor causes familial short stature
55. Abnormal GH receptor signaling in children with idiopathic short stature
56. Syndrome of familial dwarfism and high plasma immunoreactive human growth hormone
57. The little women of Loja - Growth hormone-receptor deficiency in an inbred population of southern Ecuador
58. Growth hormone receptor deficiency in Ecuador: Clinical and biochemical phenotype in two populations
59. Organization and sequence of the human insulin-like growth factor I gene. Alternative RNA processing produces two insulin-like growth factor I precursor peptides
60. Mice carrying null mutations of the genes encoding insulin-like growth factor I (Igf-1) and type 1 IGF receptor (Igflr)
61. Insulin-like growth factor 2 and overgrowth: Molecular biology and clinical implications
62. Normal growth and development in the absence of hepatic insulin-like growth factor I
63. Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene
64. Plasma insulin-like growth factor-I and prostate cancer risk: A prospective study
65. Insulin-like growth factor physiology and cancer risk
66. Genetic factors related to racial variation in plasma levels of insulin-like growth factor-1: Implications for premenopausal breast cancer risk
67. Does the GH-IGF axis play a role in cancer pathogenesis?
68. Insulin-like growth factor I receptor primary structure: Comparison with insulin receptor suggests structural determinants that define functional specificity
69. Role of insulin-like growth factors in embryonic and postnatal growth
70. An infant with deletion of the distal long arm of chromosome 15 (q26.1→qter) and loss of insulin-like growth factor 1 receptor gene
71. Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes
72. Sex-determining genes
73. Diabetes due to secretion of a structurally abnormal insulin (insulin Wakayama): Clinical and functional characteristics of [LeuA3] insulin
74. Familial hyperproinsulinemia due to a proposed defect in conversion of proinsulin to insulin
75. Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance
76. Homozygous deletion of the human insulin receptor gene results in leprechaunism
77. Functional properties of a naturally occurring Trp1200 →Ser1200 mutation of the insulin receptor
78. Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance