Genetic causes of growth hormone deficiency;Causes génétiques de déficit en hormone de croissance

Medecine Therapeutique Endocrinologie

Volumn 4, Issue SPEC. ISS. 1, 2002, Pages 15-22

  Vallette Kasic, Sophie ^a   Netchine, Irène ^a   Reynaud, Rachel ^a   Amselem, Serge ^a   Enjalbert, Alain ^a   Brue, Thierry ^a  

^a TIMONE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; GROWTH HORMONE; GROWTH HORMONE RECEPTOR; GROWTH HORMONE RELEASING FACTOR RECEPTOR; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR LHX3; TRANSCRIPTION FACTOR PIT 1; TRANSCRIPTION FACTOR PROP1; UNCLASSIFIED DRUG;

FAMILIAL DISEASE; GENE MUTATION; GENETIC ANALYSIS; GENETIC PREDISPOSITION; GROWTH HORMONE DEFICIENCY; GROWTH RETARDATION; HUMAN; HYPOPITUITARISM; PATHOGENESIS; REVIEW; RIEGER SYNDROME; TRANSCRIPTION REGULATION;

EID: 0036192122     PISSN: 12959359     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (66)

1. Idiopathic growth hormone deficiency: A vanishing diagnosis?
2. Molecular bases of pathological growth
3. Relationship between phenotype and genotype in growth hormone insensivity syndrome
4. The molecular genetics of growth hormone deficiency
5. Molecular basis of familial human growth hormone deficiency
6. De novo mutations of the growth hormone gene: An important cause of congenital isolated growth hormone deficiency?
7. The human growth hormone locus: Nucleotide sequence, biology and evolution
8. Mapping the human growth hormone-releasing hormone receptor (GHRHR) gene to the short arm of chromosome 7 (7p13-p21) near the epidermal growth factor receptor (EGFR) gene
9. Structure and regulation of the human growth hormone-releasing hormone receptor gene
10. Molecular basis of the little mouse phenotype and implications for cell-type specific growth
11. Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse
12. Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene
13. Three new mutations in the gene for the growth hormone (GH)-releasing hormone receptor in familial in famillial isolated GH deficiency type IB
14. The pituitary-specific transcription factor GHF-1 is a homeobox-containing protein
15. Activation of cell-specific expression of rat growth hormone and prolactin genes by a common transcription factor
16. POU domain factors in the neuroendocrine system: Lessons from developmental biology provide insights into human disease
17. The molecular basis for developmental disorders of the pituitary gland in man
18. Pit-1 gene expression in the human pituitary adenomas
19. Cloning of the human cDNA for transcription factor Pit-1
20. Characterization of the gene encoding human pituitary-specific transcription factor, Pit-1
21. Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1
22. Defective retinoic acid regulation of the Pit-1 gene enhancer: A novel mechanism of combined pituitary hormone deficiency
23. A «hot spot» in the Pit-1 gene responsible for combined pituitary hormone deficiency: Clinical and molecular correlates
24. A prismatic case - The prenatal role of thyroid hormone evidenced by fetomaternal Pit-1 deficiency
25. Screening for Pit-1 abnormality by PCR direct sequencing method
26. A novel E250X mutation of the Pit-1 gene in a patient with combined pituitary hormone deficiency
27. Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency
28. Monoallelic expression of normal mRNA in the Pit-1 mutation heterozygotes with normal phenotype and biallelic expression in the abnormal phenotype
29. A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency
30. Pro239Ser: A novel recessive mutation of the Pit-1 gene in seven middle eastern children with growth hormone, prolactin, and thyrotropin deficiency
31. PIT1 abnormality
32. Cretinism with combined hormone deficiency caused by a mutation in the Pit1 gene
33. A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency
34. Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia
35. Rarity of PIT1 involvement in children from Russia with combined pituitary hormone deficiency
36. Combined pituitary hormone deficiency caused by compound heterozygosity for two novel mutations in the POU domain of the PIT1/POU1F1 gene
37. Combined pituitary hormone deficiency due to the F135C human Pit-1 gene mutation: Functional and structural correlates
38. «Hot spot» in the PROP1 gene responsible for combined pituitary hormone deficiency
39. PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency
40. Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfism
41. Human Prop-1: Cloning, mapping, genomic structure - Mutations in familial combined pituitary hormone deficiency
42. Mutations in PROP1 cause familial combined pituitary hormone deficiency
43. The Ames dwarf gene is required for Pit-1 gene activation
44. Gonadotropin secretion, synthesis, and gene expression in human growth hormone transgenic mice and in Ames dwarf mice
45. The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency
46. MR imaging of the pituitary gland in children and young adults with congenital combined pituitary hormone deficiency associated with PROP1 mutations
47. Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene
48. Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the prophet of Pit-1 gene
49. Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 mutation
50. 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)
51. Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP1
52. Gene analysis of PROP1 in dwarfism with combined pituitary hormone deficiency
53. Pseudotumor of the pituitary due to PROP1 deletion
54. A family of LIM domain-associated cofactors confers transcriptional synergism between LIM and Otx homeodomain proteins
55. P-Lim, a LIM homeodomain factor, is expressed during pituitary organ and cell committment and synergizes with Pit-1
56. Genomic structure and chromosomal localization of the mouse LIM/homeobox gene Lhx3
57. Specification of pituitary cell lineages by the LIM homeobox gene Lhx3
58. Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency
59. Molecular genetics of septo-optic dysplasia
60. Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse
61. Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia
62. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene RIEG, involved in Rieger syndrome
63. Pituitary homeobox 2, a novel member of the bicoid-related family of homeobox genes, is a potential regulator of anterior structure formation
64. Dosage requirement of Pitx2 for development of multiple organs
65. The bicoid-related Pitx gene family in development