Diamond‐Blackfan Anemia (DBA) is characterized by a defect of erythroid progenitors and,
clinically, by anemia and malformations. DBA exhibits an autosomal dominant pattern of …

Idiopathic interstitial pneumonias (IIPs) comprise a heterogeneous group of rare lung
parenchyma disorders with high morbidity and mortality, which can occur at all ages. In adults, the …

The endothelial protein C receptor (EPCR) plays a crucial role in the anticoagulant and anti-inflammatory
effects of the protein C pathway, whereas its soluble form (sEPCR) exhibits …

Novel ADCC effector cells expressing the V-variant or F-variant of FcγRIIIa (CD16a) and
firefly luciferase under the control of a chimeric promoter incorporating recognition sequences …

Mutations in the RPS19 gene have been identified in 25% of individuals affected by
Diamond‐Blackfan anemia (DBA), a congenital erythroblastopenia characterized by an …

Diamond-Blackfan anemia (DBA) is a rare disorder characterized by congenital pure red cell
aplasia. Mutations in ribosomal protein S19 (RPS19) have been identified in 25% of DBA …

The absence of functional FMR1 gene product (FMRP) causes Fragile X Syndrome; which is
the most common inherited form of mental disability. In 1991, Verkerk et al. has discovered …

Diamond-Blackfan anemia (DBA) is caused by aberrant ribosomal biogenesis due to
ribosomal protein (RP) gene mutations. To develop mechanistic understanding of DBA …

The western Antarctic Peninsula (WAP) is experiencing significant rates of regional climate
warming, both the atmosphere (∼ 5 C in last 50 years; Vaughan et al., 2003) and surface …