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Germline NPM1 mutations lead to altered rRNA 2'-O-methylation and cause dyskeratosis congenita

Nature Genetics

Oct 30, 2019

Daphna NachmaniPier Paolo Pandolfi

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Abstract

RNA modifications are emerging as key determinants of gene expression. However, compelling genetic demonstrations of their relevance to human disease are lacking. Here, we link ribosomal RNA 2'-O-methylation (2'-O-Me) to the etiology of dyskeratosis congenita. We identify nucleophosmin ...read more

Mentioned in this Paper

Bone Marrow
Cell Differentiation Process
Cell Growth
Gene Expression
Hematopoietic Stem Cells
Laboratory mice
RNA
Ribosomal RNA
Dimethoxymethane
Nucleophosmin
12
2
23
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Germline NPM1 mutations lead to altered rRNA 2'-O-methylation and cause dyskeratosis congenita

Nature Genetics

Oct 30, 2019

Daphna NachmaniPier Paolo Pandolfi

PMID: 31570891

DOI: 10.1038/s41588-019-0502-z

Abstract

RNA modifications are emerging as key determinants of gene expression. However, compelling genetic demonstrations of their relevance to human disease are lacking. Here, we link ribosomal RNA 2'-O-methylation (2'-O-Me) to the etiology of dyskeratosis congenita. We identify nucleophosmin ...read more

Mentioned in this Paper

Bone Marrow
Cell Differentiation Process
Cell Growth
Gene Expression
Hematopoietic Stem Cells
12
2
23

Similar Papers Found In These Feeds

Paper Details
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