×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
Biomarker
BEFREE
Our data provide evidence in favour of the implication of FOXL2 variants in non-syndromic POF and confirm the regulatory interaction between FOXL2 and OSR2 whose perturbation might contribute to the palpebral abnormalities observed in BPES patients.
19429596 2009
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
BEFREE
FOXL2 is a forkhead transcription factor, essential for ovarian function, whose mutations are responsible for the blepharophimosis syndrome , characterized by craniofacial defects, often associated with premature ovarian failure.19010791 2009
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
Biomarker
BEFREE
As a model for monogenic disease we studied the involvement of genetic changes of CNCs in the cis-regulatory domain of FOXL2 in blepharophimosis syndrome (BPES ).
19543368 2009
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
BEFREE
Genomic rearrangements comprising both deletions encompassing FOXL2 and deletions located outside its transcription unit, represent 12% and 5% of all genetic defects in our BPES cohort, respectively.
18726931 2009
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
Biomarker
GENOMICS_ENGLAND
Our data provide evidence in favour of the implication of FOXL2 variants in non-syndromic POF and confirm the regulatory interaction between FOXL2 and OSR2 whose perturbation might contribute to the palpebral abnormalities observed in BPES patients.
19429596 2009
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
UNIPROT
Mutations of the FOXL2 gene have been shown to cause blepharophimosis syndrome (BPES ), characterized by an eyelid malformation associated with premature ovarian failure or not.
18372316 2008
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
BEFREE
Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients.
18484667 2008
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
BEFREE
Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome .
18642388 2008
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
UNIPROT
Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome .
18642388 2008
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
BEFREE
The elucidation of the impact of FOXL2 mutations on its function will allow a better understanding of the pathogenic mechanisms underlying the BPES phenotype.
18155828 2008
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
BEFREE
Mutations of the FOXL2 gene have been shown to cause blepharophimosis syndrome (BPES ), characterized by an eyelid malformation associated with premature ovarian failure or not.
18372316 2008
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
UNIPROT
Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients.
18484667 2008
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
UNIPROT
Mutations in the FOXL2 gene, encoding a forkhead transcription factor, are responsible for both types of BPES .
17089161 2007
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
BEFREE
A novel polyalanine expansion in FOXL2 : the first evidence for a recessive form of the blepharophimosis syndrome (BPES ) associated with ovarian dysfunction.
17089161 2007
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
UNIPROT
Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
16454982 2006
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
Biomarker
BEFREE
Here, we identified novel microdeletions outside of FOXL2 in cases of sporadic and familial BPES .
15962237 2005
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
Biomarker
MGD
The murine winged-helix transcription factor Foxl2 is required for granulosa cell differentiation and ovary maintenance.
14736745 2004
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
Biomarker
MGD
Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development.
15056605 2004
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
BEFREE
Since then, a number of reports have appeared that describe intragenic FOXL2 mutations in BPES patients.
15300845 2004
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
UNIPROT
Genetic analysis of a five generation Indian family with BPES: a novel missense mutation (p.Y215C).
15257268 2004
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
UNIPROT
Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients.
12938087 2003
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
BEFREE
Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients.
12938087 2003
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
Biomarker
GENOMICS_ENGLAND
FOXL2 and BPES : mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.12529855 2003
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
UNIPROT
FOXL2 and BPES : mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.12529855 2003
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
Biomarker
BEFREE
FOXL2 and BPES : mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.12529855 2003