Loss of function of FIGNL1, a DNA damage response gene, causes human ovarian dysgenesis

In conclusion, FIGNL1 loss of function is a newly characterized OD gene, highlighting the DDR pathway's role in ovarian development and maintenance and suggesting chromosomal breakage as an assessment tool in XX-DSD patients.PMID:37740949 | DOI:10.1093/ejendo/lvad127

Source: European Journal of Endocrinology - September 23, 2023 Category: Endocrinology Authors: Natan Florsheim Larisa Naugolni Fouad Zahdeh Orit Lobel Batel Terespolsky Rachel Michaelson-Cohen Merav Y Gold Michal Goldberg Paul Renbaum Ephrat Levy-Lahad David Zangen Source Type: research