1. NR5A1 (SF-1) gene variants in a group of 26 young women with XX primary ovarian insufficiency 
Pascal Philibert, Pharm.D., Ph.D., Françoise Paris, M.D., Ph.D., Besma Lakhal, Ph.D., Françoise Audran, Pharm.D., Laura Gaspari, M.D., Ali Saâd, M.D., Ph.D., Sophie Christin-Maître, M.D., Ph.D., Philippe Bouchard, M.D., Ph.D., Charles Sultan, M.D., Ph.D. 
Fertility and Sterility 
Volume 99, Issue 2, Pages (February 2013)
DOI: /j.fertnstert
Copyright © 2013 American Society for Reproductive Medicine Terms and Conditions

2. Figure 1
Chromatographs showing the heterozygous C to T transversion in the proband (top). The mutated arginine at position 255 is highly conserved in homologues of SF-1 from all species studied to date (bottom).
Fertility and Sterility  , DOI: ( /j.fertnstert )
Copyright © 2013 American Society for Reproductive Medicine Terms and Conditions

3. Figure 2
Transcriptional activation of SF-1 target gene promoters by wild type (WT) and variants. The activity of the M78I DNA-binding domain mutant associated with a more severe phenotype is shown for comparison. The fold inductions over pcDNA with the WT (30 ng), p.Met78Ile (M78I; 30 ng), p.Arg255Cys (R255C; 30 ng), a 1:1 combination of p.Arg255Cys (30 ng) and WT (30 ng), and p.Gly146Ala (G146A; 30 ng) are shown for the Cyp11a1 (left) and Amh (right) promoters in TM3 and TM4 cells, respectively. **P<.0001.
Fertility and Sterility  , DOI: ( /j.fertnstert )
Copyright © 2013 American Society for Reproductive Medicine Terms and Conditions

4. Figure 3
Representation of the NR5A1 mutations identified to date in primary ovarian insufficiency (16–18).
Fertility and Sterility  , DOI: ( /j.fertnstert )
Copyright © 2013 American Society for Reproductive Medicine Terms and Conditions