Forkhead box C1


Forkhead box C1

Forkhead box C1, also known as FOXC1, is a human gene.cite web | title = Entrez Gene: FOXC1 forkhead box C1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2296| accessdate = ]

PBB_Summary
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summary_text = This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it has been shown to play a role in the regulation of embryonic and ocular development. Mutations in this gene cause various glaucoma phenotypes including primary congenital glaucoma, autosomal dominant iridogoniodysgenesis anomaly, and Axenfeld-Rieger anomaly.cite web | title = Entrez Gene: FOXC1 forkhead box C1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2296| accessdate = ]

ee also

* FOX proteins

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Sperling R, Bustin M |title=Dynamic equilibrium in histone assembly: self-assembly of single histones and histone pairs. |journal=Biochemistry |volume=14 |issue= 15 |pages= 3322–31 |year= 1975 |pmid= 1170889 |doi=
*cite journal | author=Pierrou S, Hellqvist M, Samuelsson L, "et al." |title=Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending. |journal=EMBO J. |volume=13 |issue= 20 |pages= 5002–12 |year= 1994 |pmid= 7957066 |doi=
*cite journal | author=Hromas R, Moore J, Johnston T, "et al." |title=Drosophila forkhead homologues are expressed in a lineage-restricted manner in human hematopoietic cells. |journal=Blood |volume=81 |issue= 11 |pages= 2854–9 |year= 1993 |pmid= 8499623 |doi=
*cite journal | author=Larsson C, Hellqvist M, Pierrou S, "et al." |title=Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12). |journal=Genomics |volume=30 |issue= 3 |pages= 464–9 |year= 1997 |pmid= 8825632 |doi= 10.1006/geno.1995.1266
*cite journal | author=Longhurst TJ, O'Neill GM, Harvie RM, Davey RA |title=The anthracycline resistance-associated (ara) gene, a novel gene associated with multidrug resistance in a human leukaemia cell line. |journal=Br. J. Cancer |volume=74 |issue= 9 |pages= 1331–5 |year= 1996 |pmid= 8912525 |doi=
*cite journal | author=Mears AJ, Mirzayans F, Gould DB, "et al." |title=Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25. |journal=Am. J. Hum. Genet. |volume=59 |issue= 6 |pages= 1321–7 |year= 1997 |pmid= 8940278 |doi=
*cite journal | author=Gould DB, Mears AJ, Pearce WG, Walter MA |title=Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25. |journal=Am. J. Hum. Genet. |volume=61 |issue= 3 |pages= 765–8 |year= 1997 |pmid= 9326342 |doi=
*cite journal | author=Jordan T, Ebenezer N, Manners R, "et al." |title=Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly. |journal=Am. J. Hum. Genet. |volume=61 |issue= 4 |pages= 882–8 |year= 1997 |pmid= 9382099 |doi=
*cite journal | author=Nishimura DY, Swiderski RE, Alward WL, "et al." |title=The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. |journal=Nat. Genet. |volume=19 |issue= 2 |pages= 140–7 |year= 1998 |pmid= 9620769 |doi= 10.1038/493
*cite journal | author=Mears AJ, Jordan T, Mirzayans F, "et al." |title=Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. |journal=Am. J. Hum. Genet. |volume=63 |issue= 5 |pages= 1316–28 |year= 1998 |pmid= 9792859 |doi=
*cite journal | author=Swiderski RE, Reiter RS, Nishimura DY, "et al." |title=Expression of the Mf1 gene in developing mouse hearts: implication in the development of human congenital heart defects. |journal=Dev. Dyn. |volume=216 |issue= 1 |pages= 16–27 |year= 1999 |pmid= 10474162 |doi= 10.1002/(SICI)1097-0177(199909)216:1<16::AID-DVDY4>3.0.CO;2-1 |doilabel=10.1002/(SICI)1097-0177(199909)216:116::AID-DVDY43.0.CO;2-1
*cite journal | author=Mirzayans F, Gould DB, Héon E, "et al." |title=Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25. |journal=Eur. J. Hum. Genet. |volume=8 |issue= 1 |pages= 71–4 |year= 2000 |pmid= 10713890 |doi= 10.1038/sj.ejhg.5200354
*cite journal | author=Lehmann OJ, Ebenezer ND, Jordan T, "et al." |title=Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. |journal=Am. J. Hum. Genet. |volume=67 |issue= 5 |pages= 1129–35 |year= 2000 |pmid= 11007653 |doi=
*cite journal | author=Nishimura DY, Searby CC, Alward WL, "et al." |title=A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. |journal=Am. J. Hum. Genet. |volume=68 |issue= 2 |pages= 364–72 |year= 2001 |pmid= 11170889 |doi=
*cite journal | author=Wang WH, McNatt LG, Shepard AR, "et al." |title=Optimal procedure for extracting RNA from human ocular tissues and expression profiling of the congenital glaucoma gene FOXC1 using quantitative RT-PCR. |journal=Mol. Vis. |volume=7 |issue= |pages= 89–94 |year= 2001 |pmid= 11320352 |doi=
*cite journal | author=Kawase C, Kawase K, Taniguchi T, "et al." |title=Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients. |journal=J. Glaucoma |volume=10 |issue= 6 |pages= 477–82 |year= 2002 |pmid= 11740218 |doi=
*cite journal | author=Dintilhac A, Bernués J |title=HMGB1 interacts with many apparently unrelated proteins by recognizing short amino acid sequences. |journal=J. Biol. Chem. |volume=277 |issue= 9 |pages= 7021–8 |year= 2002 |pmid= 11748221 |doi= 10.1074/jbc.M108417200
*cite journal | author=Berry FB, Saleem RA, Walter MA |title=FOXC1 transcriptional regulation is mediated by N- and C-terminal activation domains and contains a phosphorylated transcriptional inhibitory domain. |journal=J. Biol. Chem. |volume=277 |issue= 12 |pages= 10292–7 |year= 2002 |pmid= 11782474 |doi= 10.1074/jbc.M110266200
*cite journal | author=Borges AS, Susanna R, Carani JC, "et al." |title=Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil. |journal=J. Glaucoma |volume=11 |issue= 1 |pages= 51–6 |year= 2002 |pmid= 11821690 |doi=
*cite journal | author=Freyaldenhoven BS, Fried C, Wielckens K |title=FOXD4a and FOXD4b, two new winged helix transcription factors, are expressed in human leukemia cell lines. |journal=Gene |volume=294 |issue= 1-2 |pages= 131–140 |year= 2003 |pmid= 12234674 |doi=

External links

*

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