ARTICLES IN THREE SENTENCES
Disruption of the normal splicing patterns of RNA is a major factor in the pathogenesis of a number of diseases. The authors investigated the extent and impact of alternative splicing in 598 patients with multiple myeloma. They concluded that a high number of novel splice loci was associated with shorter survival and an ultra-high risk group.
CRISPR/Cas9-mediated knockin of human factor IX into swine factor IX locus effectively alleviates bleeding in hemophilia B pigs
The authors of this study generated a porcine model of hemophilia B using a combination of CRISPR/Cas9 and somatic cell nuclear transfer and tested the possibility of treating hemophilia B by gene insertion. Compared with hemophiliac pigs, transgenic pigs with a gene insertion of human F9 had significantly improved bleeding symptoms. This highlights the potential to replace the defective gene by gene insertion in situ.
Diet-induced iron deficiency in mice consistently induced thrombocytosis alongside anemia. Iron deficiency enhanced some aspects of platelet function, and ultimately increased thrombus size in both venous and arterial models of thrombosis. Iron administration reversed these changes, underscoring the direct relationship with iron deficiency.
Pathogenetic and clinical study of a patient with thrombocytopenia due to the p.E527K gain-of-function variant of SRC
The reported patient had an inherited thrombocytopenia due to a gain-of-function mutation in the proto-oncogene SRC. Thrombocytopenia derived from increased adhesion of megakaryocytes to extracellular matrix which caused impaired proplatelet formation and migration. The moderate thrombocytopenia observed at diagnosis evolved toward severe anemia and thrombocytopenia, with trilineage bone marrow dysplasia and significant fibrosis.
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