Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1

American Journal of Human Genetics

Volumn 68, Issue 3, 2001, Pages 627-641

  Saleem, R A ^a   Banerjee Basu, S ^a   Berry, F B ^a   Baxevanis, A D ^a   Walter, M A ^a  

^a UNIVERSITY OF ALBERTA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; RNA; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXC1; UNCLASSIFIED DRUG;

ARTICLE; AXENFELD RIEGER MALFORMATION; CLINICAL ARTICLE; DNA BINDING; DNA PROTEIN COMPLEX; GENE EXPRESSION; GENE MUTATION; HUMAN; MISSENSE MUTATION; MULTIPLE MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0035092384     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/318792     Document Type: Article

References (36)

1. Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene
2. A forkhead gene, FoxE3, is essential for lens epithelial proliferation and closure of the lens vesicle
3. An empirical energy function for threading protein sequence through the folding motif
4. New programs for protein tertiary structure prediction
5. Mutant lambda phage repressor with a specific defect in its positive control function
6. The effect of a lambda repressor mutation on the activation of transcription initiation from the lambda PRM promoter
7. Expression of the mouse Fkh1/Mf1 and Mfh1 genes in late gestation embryos is restricted to mesoderm derivatives
8. Repressor structure and the mechanism of positive control
9. Pleiotropic skeletal and ocular phenotypes of the mouse mutation congenital hydrocephalus (ch/Mf1) arise from a winged helix/forkhead transcription factor gene
10. Dynamic DNA contacts observed in the NMR structure of winged helix protein-DNA complex
11. Five years on the wings of fork head
12. The forkhead/winged-helix gene, Mf1, is necessary for the normal development of the cornea and formation of the anterior chamber in the mouse eye
13. Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders
14. Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome
15. Murine forkhead/winged helix genes Foxc1 (Mf1) and Foxc2 (Mfh1) are required for the early organogenesis of the kidney and urinary tract
16. The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus
17. Smad2 and Smad3 positively and negatively regulate TGF beta-dependent transcription through the forkhead DNA-binding protein FAST2
18. A single amino acid exchange transfers VP16-induced positive control from the Oct-1 to the Oct-2 homeo domain
19. Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12)
20. Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma
21. Target of the transcriptional activation function of phage lambda cI protein
22. Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly
23. Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25
24. Protein folding and association: Insights from the interfacial and thermodynamic properties of hydrocarbons
25. A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye
26. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25
27. Cloning and characterization of seven human forkhead proteins: Binding site specificity and DNA bending
28. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome
29. Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development
30. Expression of the Mf1 gene in developing mouse hearts: Implication in the development of human congenital heart defects
31. S26 ribosomal protein RNA: An invariant control for gene regulation experiments in eucaryotic cells and tissues
32. The fork head domain: A novel DNA binding motif of eukaryotic transcription factors?
33. Roles for the winged helix transcription factors MF1 and MFH1 in cardiovascular development revealed by nonallelic noncomplementation of null alleles
34. The role of FAST-1 and Smads in transcriptional regulation by activin during early Xenopus embryogenesis
35. Characterization of human FAST-1, a TGF beta and activin signal transducer