5′UTR Variants of Ribosomal Protein S19 Transcript Determine Translational Efficiency: Implications for Diamond-Blackfan Anemia and Tissue Variability

A Single-Nucleotide Deletion in the POMP 5′ UTR Causes a Transcriptional Switch and Altered Epidermal Proteasome Distribution in KLICK Genodermatosis

(2010) Johanna Dahlqvist et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia

(2010) E. E. Devlin et al.   BLOOD

Ribosomal protein S19 binds to its own mRNA with reduced affinity in Diamond-Blackfan anemia

(2010) Jens Schuster et al.   BLOOD CELLS MOLECULES AND DISEASES

The ribosomal basis of diamond-blackfan anemia: mutation and database update

(2010) Ilenia Boria et al.   HUMAN MUTATION

Down-regulation of progesterone receptor membrane component 1 (PGRMC1) in peripheral nucleated blood cells associated with premature ovarian failure (POF) and polycystic ovary syndrome (PCOS)

(2010) Jens Schuster et al.   Reproductive Biology and Endocrinology

Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond–Blackfan anemia

(2009) Jitendra Badhai et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Targeted Resequencing and Analysis of the Diamond-Blackfan Anemia Disease Locus RPS19

(2009) Alvaro Martinez Barrio et al.   PLoS One

Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder

(2008) V. Choesmel et al.   HUMAN MOLECULAR GENETICS