Ribosomal Defects: Genetic, Acquired, and Epigenetic Saboteurs

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2025-04-17 06:30:19 -

Genetic Mutations: From Anemia to Developmental Disorders RP mutations: RPS19 defects impair 18S rRNA processing, reducing functional 40S subunits and causing Diamond-Blackfan anemia (DBA). rRNA biogenesis defects: SBDS gene mutations in Shwachman-Diamond syndrome disrupt 60S subunit maturation, leading to pancreatic insufficiency and leukemia predisposition.

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