The mTOR pathway plays a central role in many cellular processes, such as cellular growth,
protein synthesis, glucose, and lipid metabolism. Aberrant regulation of mTOR is a hallmark …

Protein homeostasis is well accepted as the prerequisite for proper operation of various life
activities. As the main apparatus of protein translation, ribosomes play an indispensable role …

Ribosome biogenesis is a key process for maintaining protein synthetic capacity in dividing
or growing cells, and requires coordinated production of ribosomal proteins and ribosomal …

Defective ribosome biogenesis (RiBi) underlies a group of clinically diverse human diseases
collectively known as the ribosomopathies, core manifestations of which include cytopenias …

The 5q-syndrome is the most distinct of the myelodysplastic syndromes (MDS) and patients
with this disorder have a deletion of chromosome 5q [del (5q)] as the sole karyotypic …

Evolution of erythrocyte transfusion‐dependent (RBC‐TD) anaemia associated with
haploinsufficiency of the ribosomal protein subunit S14 gene (RPS14) is a characteristic …

Deletion of the long arm of chromosome 5 [del (5q)] is the most common cytogenetic
abnormality found in the myelodysplastic syndromes (MDS). 1 Patients with the 5qsyndrome …

Acute myeloid leukemias (AML) are characterized by recurrent genomic alterations, often in
transcriptional regulators, which form the basis on which current prognostication and …

Absztrakt: Az 5q (del) genetikai eltéréssel bíró myelodysplasiás szindróma lenalidomid
adásával hatékonyan kezelhető. Az L‑leucin az mTOR szignálút gátlásával fokozza a …

Abstract Diamond Blackfan Anemia (DBA) is an inherited bone marrow failure syndrome
characterized by pure red cell aplasia, craniofacial abnormalities, and congenital physical …