Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency

Biochemistry, Genetics and Molecular Biology

• Genetics 100%
• Germ Cell 100%
• Ribosomal Protein 100%
• Deficiency 100%
• Adolescence 50%
• Protein Function 50%
• Missense 50%
• Somatic Cell 50%
• Cell Maturation 50%
• Missense Mutation 50%
• Autosomal Recessive Inheritance 50%
• Folliculogenesis 50%
• Oxidative Phosphorylation 50%
• Fruit Fly Model 50%
• Ovary Development 50%
• Mitochondrial Disease 50%
• Bioenergetics 50%
• Fibroblast 50%
• Ribosomal RNA 50%
• Genotype-Phenotype Correlation 50%
• fertility 50%

Keyphrases

• Mitochondrial Ribosomal Proteins 100%
• Primary Ovarian Insufficiency 100%
• MRPS22 100%
• Mitochondrial Defects 25%
• Bioenergetics 12%
• Fibroblasts 12%
• Autosomal Recessive 12%
• Gene mutation 12%
• Consanguineous Family 12%
• Germ Cells 12%
• Genetic Causes 12%
• Protein Function 12%
• Somatic Cells 12%
• Missense mutation 12%
• Genotype-phenotype Correlation 12%
• Germ Cell Development 12%
• Ovarian Follicle 12%
• Ribosomal RNA 12%
• Ovarian Dysfunction 12%
• Conserved Residues 12%
• Genetic Etiology 12%
• Non-cell Autonomous 12%
• Hormonal Signaling 12%
• Drosophila Model 12%
• Oxidative Phosphorylation (OXPHOS) 12%
• Amenorrhea 12%
• Ovarian Development 12%
• Mitochondrial Disease 12%
• Folliculogenesis 12%
• Evolutionarily Conserved 12%
• Missense Variant 12%
• Mitochondrial Ribosome 12%