Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency etiology

Keyphrases

• 40 Years Old 16%
• Alagille Syndrome 16%
• Etiology 100%
• Functional Impact 50%
• Gene Expression 16%
• Gene Reporter 16%
• Genotype-phenotype Correlation 16%
• Granulosa 16%
• Luciferase Gene 16%
• Missense mutation 100%
• Notch2 100%
• NOTCH2 mutation 66%
• Ovarian Dysfunction 16%
• Primary Ovarian Insufficiency 100%
• Reporter Construct 16%
• Synthetic Gene 16%
• Transcriptional Activity 16%
• Under 40 16%
• Upstream Open Reading Frame (uORF) 16%
• Whole Exome Sequencing 33%

Biochemistry, Genetics and Molecular Biology

• Exome Sequencing 100%
• Gene Expression 50%
• Luciferase 50%
• Missense Mutation 100%
• Open Reading Frame 50%
• Reporter Gene 50%

Immunology and Microbiology

• Gene Expression 50%
• Missense Mutation 100%
• Open Reading Frame 50%
• Reporter Gene 50%
• Whole Exome Sequencing 100%