相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia
Radek Cmejla et al.
HUMAN MUTATION (2007)
Ribosomal protein mutations in Diamond-Blackfan anemia: might they operate upstream from protein synthesis?
Thoru Pederson
FASEB JOURNAL (2007)
Ribosomal protein L33 is required for ribosome biogenesis, subunit joining, and repression of GCN4 translation
Pilar Martin-Marcos et al.
MOLECULAR AND CELLULAR BIOLOGY (2007)
Cells depleted for RPS19, a protein associated with Diamond Blackfan Anemia, show defects in 18S ribosomal RNA synthesis and small riblosomal subunit production
Rachel A. Idol et al.
BLOOD CELLS MOLECULES AND DISEASES (2007)
Distinct roles of MDMX in the regulation of p53 response to ribosomal stress
Daniele M. Gilkes et al.
CELL CYCLE (2007)
Ribosomal protein S24 gene is mutated in diamond-blackfan anemia
Hanna T. Gazda et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Diamond Blackfan anemia: A paradigm for a ribosome-based disease
SR Ellis et al.
MEDICAL HYPOTHESES (2006)
Inactivation of S6 ribosomal protein gene in T lymphocytes activates a p53-dependent checkpoint response
S Sulic et al.
GENES & DEVELOPMENT (2005)
Specific role for yeast homologs of the diamond blackfan anemia-associated Rps19 protein in ribosome synthesis
I Léger-Silvestre et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
3q29 Microdeletion syndrome: Clinical and molecular characterization of a new syndrome
L Willatt et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Development of cellular models for ribosomal protein s19 (RPS19)-deficient Diamond-Blackfan anemia using inducible expression of siRNA against RPS19
K Miyake et al.
MOLECULAR THERAPY (2005)
Many ribosomal protein genes are cancer genes in zebrafish
A Amsterdam et al.
PLOS BIOLOGY (2004)
Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity
KA Orfali et al.
BRITISH JOURNAL OF HAEMATOLOGY (2004)
Non-parametric, hypothesis-based analysis of microarrays for comparison of several phenotypes
J Kowalski et al.
BIOINFORMATICS (2004)
RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations
HT Gazda et al.
BRITISH JOURNAL OF HAEMATOLOGY (2004)
Ribosomal protein L24 defect in belly spot and tail (Bst), a mouse Minute
ER Oliver et al.
DEVELOPMENT (2004)
RPG: the Ribosomal Protein Gene database
A Nakao et al.
NUCLEIC ACIDS RESEARCH (2004)
Inhibition of MDM2-mediated p53 ubiquitination and degradation by ribosomal protein L5
MS Dai et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
A lentivirus-based system to functionally silence genes in primary mammalian cells, stem cells and transgenic mice by RNA interference
DA Rubinson et al.
NATURE GENETICS (2003)
Detecting polymorphisms and mutations in candidate genes
JS Collins et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Structure of the 80S ribosome from Saccharomyces cerevisiae -: tRNA-ribosome and subunit-subunit interactions
CMT Spahn et al.
CELL (2001)
The Diamond Blackfan Anemia Registry: Tool for investigating the epidemiology and biology of Diamond-Blackfan anemia
A Vlachos et al.
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY (2001)
Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia
KW Gripp et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2001)
Cloning, sequencing and expression of a cDNA encoding the mouse L35a ribosomal protein during differentiation of murine erythroleukemia (MEL) cells
IS Pappas et al.
CELL BIOLOGY INTERNATIONAL (2001)