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Article

A new murine Rpl5 (uL18) mutation provides a unique model of variably penetrant Diamond-Blackfan anemia.

Blood advances - 26 Oct 2021

Yu Lei, Lemay Philippe, Ludlow Alexander, Guyot Marie-Claude, Jones Morgan, Mohamed Fatma F, Saroya Ghazi-Abdullah, Panaretos Christopher, Schneider Emily, Wang Yu, Myers Greggory, Khoriaty Rami, Li Qing, Franceschi Renny, Engel James Douglas, Kaartinen Vesa, Rothstein Thomas L, Justice Monica J, Kibar Zoha, Singh Sharon A

Abstract excerpt

Ribosome dysfunction is implicated in multiple abnormal developmental and disease states in humans. Heterozygous germline mutations in genes encoding ribosomal proteins are found in most individuals with Diamond-Blackfan anemia (DBA), whereas somatic mutations have been implicated in a variety of cancers and other disorders. Ribosomal protein-deficient animal models show variable phenotypes and penetrance,...

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Identifiers

PMID: 34464976
DOI: 10.1182/bloodadvances.2021004658
PMCID: PMC8945612

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