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Article

Dysregulation of PLDN (pallidin) is a mechanism for platelet dense granule deficiency in RUNX1 haplodeficiency.

Journal of thrombosis and haemostasis : JTH - 1 Apr 2017

Mao G F, Goldfinger L E, Fan D C, Lambert M P, Jalagadugula G, Freishtat R, Rao A K

Abstract excerpt

Essentials Platelet dense granule (DG) deficiency is a major abnormality in RUNX1 haplodeficiency patients. The molecular mechanisms leading to the platelet DG deficiency are unknown. Platelet expression of PLDN (BLOC1S6, pallidin), involved in DG biogenesis, is regulated by RUNX1. Downregulation of PLDN is a mechanism for DG deficiency in RUNX1 haplodeficiency. SUMMARY: Background Inherited RUNX1 haplodeficiency...

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Identifiers

PMID: 28075530
DOI: 10.1111/jth.13619
PMCID: PMC5378588

Genes

RUNX1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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