Forkhead box L2

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Forkhead box L2
Identifiers
Symbols FOXL2 ; BPES; BPES1; PFRK; PINTO; POF3
External IDs Template:OMIM5 Template:MGI HomoloGene74992
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

Forkhead box L2, also known as FOXL2, is a human gene.[1]


See also

References

  1. "Entrez Gene: FOXL2 forkhead box L2".

Further reading

  • de Die-Smulders CE, Engelen JJ, Donk JM, Fryns JP (1991). "Further evidence for the location of the BPES gene at 3q2". J. Med. Genet. 28 (10): 725. PMID 1941972.
  • Vaiman D, Schibler L, Oustry-Vaiman A; et al. (1999). "High-resolution human/goat comparative map of the goat polled/intersex syndrome (PIS): the human homologue is contained in a human YAC from HSA3q23". Genomics. 56 (1): 31–9. doi:10.1006/geno.1998.5691. PMID 10036183.
  • Kaestner KH, Knochel W, Martinez DE (2000). "Unified nomenclature for the winged helix/forkhead transcription factors". Genes Dev. 14 (2): 142–6. PMID 10702024.
  • Crisponi L, Deiana M, Loi A; et al. (2001). "The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome". Nat. Genet. 27 (2): 159–66. doi:10.1038/84781. PMID 11175783.
  • De Baere E, Dixon MJ, Small KW; et al. (2001). "Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation". Hum. Mol. Genet. 10 (15): 1591–600. PMID 11468277.
  • Dollfus H, Kumaramanickavel G, Biswas P; et al. (2001). "Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22". J. Med. Genet. 38 (7): 470–2. PMID 11474656.
  • Yamada T, Hayasaka S, Matsumoto M; et al. (2002). "Heterozygous 17-bp deletion in the forkhead transcription factor gene, FOXL2, in a Japanese family with blepharophimosis-ptosis-epicanthus inversus syndrome". J. Hum. Genet. 46 (12): 733–6. PMID 11776388.
  • Kosaki K, Ogata T, Kosaki R; et al. (2002). "A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid". Ophthalmic Genet. 23 (1): 43–7. PMID 11910558.
  • Bell R, Murday VA, Patton MA, Jeffery S (2002). "Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have mutations in the putative forkhead transcription factor FOXL2". Genet. Test. 5 (4): 335–8. doi:10.1089/109065701753617499. PMID 11960581.
  • Harris SE, Chand AL, Winship IM; et al. (2003). "Identification of novel mutations in FOXL2 associated with premature ovarian failure". Mol. Hum. Reprod. 8 (8): 729–33. PMID 12149404.
  • De Baere E, Lemercier B, Christin-Maitre S; et al. (2002). "FOXL2 mutation screening in a large panel of POF patients and XX males". J. Med. Genet. 39 (8): e43. PMID 12161610.
  • Ramírez-Castro JL, Pineda-Trujillo N, Valencia AV; et al. (2003). "Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families". Am. J. Med. Genet. 113 (1): 47–51. doi:10.1002/ajmg.10741. PMID 12400065.
  • Cocquet J, Pailhoux E, Jaubert F; et al. (2003). "Evolution and expression of FOXL2". J. Med. Genet. 39 (12): 916–21. PMID 12471206.
  • Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
  • De Baere E, Beysen D, Oley C; et al. (2003). "FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation". Am. J. Hum. Genet. 72 (2): 478–87. PMID 12529855.
  • Mazumdar A, Kumar R (2003). "Estrogen regulation of Pak1 and FKHR pathways in breast cancer cells". FEBS Lett. 535 (1–3): 6–10. PMID 12560069.
  • Fokstuen S, Antonarakis SE, Blouin JL (2003). "FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients". Am. J. Med. Genet. A. 117 (2): 143–6. doi:10.1002/ajmg.a.10024. PMID 12567411.
  • Dollfus H, Stoetzel C, Riehm S; et al. (2003). "Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle". Clin. Genet. 63 (2): 117–20. PMID 12630957.
  • Udar N, Yellore V, Chalukya M; et al. (2003). "Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients". Hum. Mutat. 22 (3): 222–8. doi:10.1002/humu.10251. PMID 12938087.
  • Crisponi L, Uda M, Deiana M; et al. (2004). "FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences". Genomics. 83 (5): 757–64. doi:10.1016/j.ygeno.2003.11.010. PMID 15081106.

External links