Severity of X-linked Dyskeratosis Congenita (DKCX) Cellular Defects Is not Directly Related to Dyskerin (DKC1) Activity in Ribosomal RNA Biogenesis or mRNA Translation

A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome

(2013) M. M. Gramatges et al.   BLOOD

Human RTEL1 deficiency causes Hoyeraal–Hreidarsson syndrome with short telomeres and genome instability

(2013) Tangui Le Guen et al.   HUMAN MOLECULAR GENETICS

H/ACA Small RNA Dysfunctions in Disease Reveal Key Roles for Noncoding RNA Modifications in Hematopoietic Stem Cell Differentiation

(2013) Cristian Bellodi et al.   Cell Reports

Human intron-encoded Alu RNAs are processed and packaged into Wdr79-associated nucleoplasmic box H/ACA RNPs

(2012) B. E. Jady et al.   GENES & DEVELOPMENT

The telomere syndromes

(2012) Mary Armanios et al.   NATURE REVIEWS GENETICS

The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita

(2011) Xi-Lei Zeng et al.   HUMAN MOLECULAR GENETICS

rRNA Pseudouridylation Defects Affect Ribosomal Ligand Binding and Translational Fidelity from Yeast to Human Cells

(2011) Karen Jack et al.   MOLECULAR CELL

Loss of Function of the Tumor Suppressor DKC1 Perturbs p27 Translation Control and Contributes to Pituitary Tumorigenesis

(2010) C. Bellodi et al.   CANCER RESEARCH

Deregulation of oncogene-induced senescence and p53 translational control in X-linked dyskeratosis congenita

(2010) Cristian Bellodi et al.   EMBO JOURNAL

Modular domains of the Dicistroviridae intergenic internal ribosome entry site

(2010) C. J. Jang et al.   RNA

Syndromes of Telomere Shortening

(2009) Mary Armanios   Annual Review of Genomics and Human Genetics

Dyskeratosis Congenita

(2009) Sharon A. Savage et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

Conserved Element of the Dicistrovirus IGR IRES that Mimics an E-site tRNA/Ribosome Interaction Mediates Multiple Functions

(2009) Christopher J. Jang et al.   JOURNAL OF MOLECULAR BIOLOGY

TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita

(2008) Sharon A. Savage et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An intronic mutation inDKC1in an infant with Høyeraal-Hreidarsson syndrome

(2008) Toni Pearson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Idiopathic pulmonary fibrosis

(2008) Eric B Meltzer et al.   Orphanet Journal of Rare Diseases