Combined pituitary hormone deficiency due to the F135C human Pit-1 (pituitary-specific factor 1) gene mutation: Functional and structural correlates

Molecular Endocrinology

Volumn 15, Issue 3, 2001, Pages 411-420

  Vallette Kasic, Sophie ^a   Pellegrini Bouiller, Isabelle ^a   Sampieri, François ^a   Gunz, Ginette ^a   Diaz, Adriana ^a   Radovick, Sally ^b   Enjalbert, Alain ^a   Brue, Thierry ^a  

^a AIX MARSEILLE UNIVERSITY   (France)

^b BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GROWTH HORMONE; HYPOPHYSIS HORMONE; PROLACTIN; THYROTROPIN; TRANSCRIPTION FACTOR PIT 1;

AMINO ACID SUBSTITUTION; ARTICLE; CELL DIFFERENTIATION; CONFORMATION; CONTROLLED STUDY; CRYSTALLOGRAPHY; DNA BINDING; GENE FUNCTION; GENE MUTATION; GENE STRUCTURE; HORMONAL REGULATION; HORMONE DEFICIENCY; HUMAN; HUMAN CELL; IN VITRO STUDY; MOLECULAR MODEL; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN EXPRESSION;

EID: 0035106606     PISSN: 08888809     EISSN: None     Source Type: Journal    
DOI: 10.1210/mend.15.3.0601     Document Type: Article

References (40)

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2. Role of Pit-1 in the gene expression of GH, PRL, and TSH
3. Transcriptional control of GH expression and anterior pituitary development
4. Structure of Pit-1 POU domain bound to DNA as a dimer: Unexpected arrangement and flexibility
5. Autoregulation of Pit-1 gene expression mediated by two cis-active promoter elements
6. Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene Pit-1
7. Defective retinoic acid regulation of the Pit-1 gene enhancer: A novel mechanism of combined pituitary hormone deficiency
8. A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency
9. Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia
10. A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency
11. Cretinism with combined hormone deficiency caused by a mutation in the Pit1 gene
12. A "hot spot" in the Pit-1 gene responsible for combined pituitary hormone deficiency: Clinical and molecular correlates
13. Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency
14. Monoallelic expression of normal mRNA in the Pit-1 mutation heterozygotes with normal phenotype and biallelic expression in the abnormal phenotype
15. A prismatic case - The prenatal role of thyroid hormone evidenced by fetomaternal Pit-1 deficiency
16. A novel E250X mutation of the Pit-1 gene in a patient with combined pituitary hormone deficiency
17. Compound heterozygosity for Pit-1 mutations
18. Pro239Ser: A novel recessive mutation of the Pit-1 gene in seven middie eastern children with GH, PRL, and TSH deficiency
19. Rarity of PIT1 involvement in children from Russia with combined pituitary hormone deficiency
20. Crystallization and preliminary X-ray analysis of Pit-1 POU domain complexed to a 28 base pair DNA element
21. Signal-specific co-activator domain requirements for Pit-1 activation
22. Phosphorylated CREB binds specifically to the nuclear protein CBP
23. A novel mechanism for cyclic adenosine 3′,5′-monophosphate regulation of gene expression by CREB-binding protein
24. Environment-specific aminoacid substitution tables: Tertiary templates and prediction of protein folds
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27. CREB-independent regulation by CBP is a novel mechanism of human GH gene expression
28. Subnuclear partitioning and functional regulation of the Pit-1 transcription factor
29. Mean-field minimization methods for biological macromolecules
30. Electrostatic interactions in the GCN4 leucine zipper: Substantial contributions arise from intramolecular interactions enhanced on binding
31. Reciprocal interactions of Pit1 and GATA2 mediate signaling gradient-induced determination of pituitary cell types
32. Activation of the PRL gene by peroxisome proliferator-activated receptoralpha appears to be DNA binding-independent
33. P-Lim, a LIM homeodomain factor, is expressed during pituitary organ and cell commitment and synergizes with Pit-1
34. The Pit-1 homeodomain and β-domain interact with Ets-1 and modulate synergistic activation of the rat PRL promoter
35. Mechanisms of regulation by normal or mutant forms of the pituitary transcription factor Pit-1 of its target genes via the PKA pathway
36. Defective interaction of a mutant Pit-1, K216E, with CBP inhibits human PRL gene expression
37. CLUSTAL W: Improving the sensitivity of progressive multiple sequence alignment through sequence weighting, positions-specific gap penalties and weight matrix choice
38. Comparative protein modeling by satisfaction of spatial restraints
39. Recognition of errors in three-dimensional structures of proteins
40. PROCHECK: A program to check the stereochemical quality of protein structures