Articles with "variant form" as a keyword



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Overexpression of Short Variant Form of New Kelch Family Protein Leads to Erythroid and Megakaryocyte Dysplasia by Targeting Megakaryocyte-Erythroid Progenitors.

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Published in 2018 at "DNA and cell biology"

DOI: 10.1089/dna.2018.4206

Abstract: Nd1-S is the nuclear-localizing short variant form of Nd1 (Ivns1abp) encoding a Kelch family transcription factor. While the function of Nd1 has been investigated in the context of metastasis and doxorubicin-induced cardiotoxicity, little is known… read more here.

Keywords: variant form; megakaryocyte dysplasia; megakaryocyte; erythroid megakaryocyte ... See more keywords
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A Single F153Sβ3 Mutation Causes Constitutive Integrin αIIbβ3 Activation in a Variant Form of Glanzmann Thrombasthenia.

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Published in 2023 at "Blood advances"

DOI: 10.1182/bloodadvances.2022009495

Abstract: This report identifies a novel variant form of the inherited bleeding disorder, Glanzmann thrombasthenia (GT) exhibiting only mild bleeding in a physically active individual. The platelets cannot aggregate ex vivo with physiologic agonists of activation,… read more here.

Keywords: variant form; iib activation; glanzmann thrombasthenia; single f153s ... See more keywords