GERMLINE VARIANTS IN ETV6 UNDERLIE REDUCED PLATELET FORMATION, PLATELET DYSFUNCTION AND INCREASED LEVELS OF CIRCULATING CD34+ PROGENITORS

Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors

Variants in ETV6, which encodes a transcription repressor of the E26 transformation-specific family, have recently been reported to be responsible for inherited thrombocytopenia south park fitted hat and hematologic malignancy.We sequenced the DNA from cases with unexplained dominant thrombocytopenia and identified six likely pathogenic variants in

read more



Monkeypox outbreak in the post-eradication era of smallpox

Abstract Human monkeypox (MPOX) which recently hit the headlines is a rare, emerging zoonotic disease, only next to smallpox yet never attended adequately to halt the epidemic outbreak threat.MPOX is caused by Orthopox virus, which is a double-stranded, linear DNA d2 fleshripper virus, transmitted from infected animals, commonly rodents to humans.M

read more