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

Keyphrases

• Loss Function 100%
• Ovarian Dysgenesis 100%
• DNA Damage Response Genes 100%
• FIGNL1 100%
• Chromosome Breakage 33%
• Phleomycin 33%
• Reduced Expression 16%
• Ashkenazi Jews 16%
• Mitomycin C 16%
• Infertility 16%
• Hypergonadotropic Hypogonadism 16%
• Ovarian Development 16%
• HEK293 Cells 16%
• Compound Heterozygous mutation 16%
• Focus Formation 16%
• Whole Exome Sequencing 16%
• Nuclear Foci 16%
• Frameshift 16%
• Truncation 16%
• Patient Cells 16%
• Primary Amenorrhea 16%
• Jewish Patients 16%
• DNA Damage Response Pathway 16%
• XX DSD 16%
• XX Disorders of Sex Development 16%

Medicine and Dentistry

• DNA Damage Response 100%
• Phleomycin 66%
• Chromosome Breakage 66%
• Hypergonadotropic Hypogonadism 33%
• Genetic Transfection 33%
• Ovary Development 33%
• Exome Sequencing 33%
• Primary Amenorrhea 33%
• Disorders of Sex Development 33%
• Mitomycin 33%

Biochemistry, Genetics and Molecular Biology

• DNA Damage Response 100%
• Chromosome Breakage 66%
• Phleomycin 66%
• Wild Type 33%
• Ovary Development 33%
• Exome Sequencing 33%
• Transfection 33%