Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita

A telomerase component is defective in the human disease dyskeratosis congenita

James R. Mitchell, Emily J. Wood, Kathleen Collins · Nature · 1999 · 1.1K citations

Disease Mechanism, Pathogenesis, Molecular Biology +8

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

Tom Vulliamy, Anna Marrone, Frederick D. Goldman et al. · Nature · 2001 · 948 citations

Genome Instability, Engineering, Genetic Disorder +7

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

Nina S. Heiss, S. W. Knight, Tom Vulliamy et al. · Nature Genetics · 1998 · 944 citations

Genome Instability, Mendelian Disorder, Genetic Disorder +10

A Box H/ACA Small Nucleolar RNA-Like Domain at the Human Telomerase RNA 3′ End

James R. Mitchell, Jeffrey Cheng, Kathleen Collins · Molecular and Cellular Biology · 1999 · 502 citations · Full text

Dyskeratosis Congenita and Cancer in Mice Deficient in Ribosomal RNA Modification

Davide Ruggero, Silvia Grisendi, Francesco Piazza et al. · Science · 2003 · 422 citations

Genome Instability, Engineering, Ribosomal Rna Modification +13