Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1

Journal of Clinical Endocrinology and Metabolism

Volumn 85, Issue 8, 2000, Pages 2779-2785

  Osorio, Maria G F ^a   Kopp, Peter ^b   Marui, Suemi ^a   Latronico, Ana Claudia ^a   Mendonca, Berenice B ^a   Arnhold, Ivo J P ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b NORTHWESTERN UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FOLLITROPIN; GROWTH HORMONE; HOMEODOMAIN PROTEIN; HYDROCORTISONE; LUTEINIZING HORMONE; PHENYLALANINE; PROLACTIN; SERINE; THYROTROPIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PROP 1; UNCLASSIFIED DRUG;

ADENOHYPOPHYSIS; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL FEATURE; CODON; CONTROLLED STUDY; DIAGNOSTIC IMAGING; DNA RESPONSIVE ELEMENT; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HORMONE DEFICIENCY; HUMAN; HUMAN CELL; HYDROCORTISONE RELEASE; HYPOGLYCEMIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN DNA BINDING; RADIOGRAPHY; REPORTER GENE; TRANSACTIVATION;

MURINAE; SIMIAE; SIMIAN VIRUS; SIMIAN VIRUS 40; TURCICA;

EID: 0034458085     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.85.8.2779     Document Type: Article

References (26)

1. Role of Pit-1 in the gene expression of growth hormone, prolactin, and thyrotropin
2. Genes regulating hypothalamic and pituitary development
3. Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfism
4. Mutations in PROP1 cause familial combined pituitary hormone deficiency
5. Human Prop-1:cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency
6. The PROP1 2-bp deletion is a common cause of combined pituitary hormone deficiency
7. Compound heterozygous deletion of the PROP-1 gene in children with combined pituitary hormone deficiency
8. Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene
9. Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene
10. "Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency
11. Combined pituitary hormone deficiency in an inbred Brazilian kindred associated with a mutation in the PROP-1 gene
12. A mutational hot spot in the PROP-1 gene in Russian children with combined pituitary hormone deficiency
13. The "Little People" of the island of Krk-revisited. Etiology of hypopituitarism revealed
14. 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)
15. 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
16. Recommendations for a nomenclature system for human gene mutations
17. Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children
18. New standards for assessment of sella turcica volume in children
19. Height of normal pituitary gland as a function of age evaluated by magnetic resonance imaging in children
20. Recombination and mutagenesis of DNA sequences using PCR
21. Panning transfected cells for electrophysiological studies
22. Natural history and molecular mechanisms of hypopituitarism with large sella turcica
23. Autosomal recessive deficiency of combined pituitary hormones (except ACTH) in a consanguineous Brazilian kindred
24. Early evolutionary origin of major homeodomain sequence classes
25. The homeodomain resource: Sequences, structures and genomic information