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Life Sciences → Biochemistry, Genetics and Molecular Biology → Genetics

Blood disorders and treatments

This cluster of papers focuses on the genetic basis and clinical manifestations of various neutropenia disorders, including Shwachman-Diamond syndrome, Kostmann disease, and Cohen syndrome. It explores the impact of mutations in genes such as ELANE, HAX1, GFI1, and SBDS on neutrophil development and function, as well as the implications for hematopoietic stem cell transplantation and G-CSF therapy. The research also delves into the molecular mechanisms underlying neutropenia and potential therapeutic targets.

47.5K works worldwide316.4K citations
NeutropeniaGenetic MutationsCongenital DisordersG-CSF TherapyELANE GeneHematopoietic Stem CellsShwachman-Diamond SyndromeHAX1 DeficiencyGfi1 Transcription FactorSBDS Gene

Journals publishing in this area

1Blood cover
Blood
ISSN 0006-49714,872 articles in this topic
636h-index
2British Journal of Haematology cover
British Journal of Haematology
ISSN 0007-10481,175 articles in this topic
261h-index
3Thrombosis and Haemostasis cover
Thrombosis and Haemostasis
ISSN 0340-6245454 articles in this topic
248h-index
Blood disorders and treatments — Research Topic · Scinovex