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

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

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

http://www.wikidata.org/entity/Q33438315

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Hematopoietic transcription factor mutations: important players in inherited platelet defects.Defective acid hydrolase secretion in RUNX1 haplodeficiency: Evidence for a global platelet secretory defect.Transcription Factor RUNX1 Regulates Platelet PCTP (Phosphatidylcholine Transfer Protein): Implications for Cardiovascular Events.Role for Cela1 in Postnatal Lung Remodeling and AAT-deficient Emphysema.Challenges on the diagnostic approach of inherited platelet function disorders: Is a paradigm change necessary?The life cycle of platelet granules.

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P2860

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

http://www.wikidata.org/entity/Q33438315

description

2017 nî lūn-bûn

@nan

2017 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2017 թվականի փետրվարին հրատարակված գիտական հոդված

@hy

2017年の論文

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2017年学术文章

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2017年学术文章

@zh-cn

2017年学术文章

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2017年学术文章

@zh-my

2017年学术文章

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2017年學術文章

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name

Dysregulation of PLDN (pallidi ...... ency in RUNX1 haplodeficiency.

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Dysregulation of PLDN (pallidi ...... ency in RUNX1 haplodeficiency.

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Dysregulation of PLDN (pallidi ...... ency in RUNX1 haplodeficiency.

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Dysregulation of PLDN (pallidi ...... ency in RUNX1 haplodeficiency.

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Dysregulation of PLDN (pallidi ...... ency in RUNX1 haplodeficiency.

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Dysregulation of PLDN (pallidi ...... ency in RUNX1 haplodeficiency.

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Journal of Thrombosis and Haemostasis

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Dysregulation of PLDN (pallidi ...... ency in RUNX1 haplodeficiency.

@en

P2093

A K Rao

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D C Fan

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G F Mao

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L E Goldfinger

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P2860

Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor

BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles

The protein CD63 is in platelet dense granules, is deficient in a patient with Hermansky-Pudlak syndrome, and appears identical to granulophysin

The pallidin (Pldn) gene and the role of SNARE proteins in melanosome biogenesis

BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes

Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.

In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis.

Association of CBFA2 mutation with decreased platelet PKC-theta and impaired receptor-mediated activation of GPIIb-IIIa and pleckstrin phosphorylation: proteins regulated by CBFA2 play a role in GPIIb-IIIa activation.

Decreased platelet expression of myosin regulatory light chain polypeptide (MYL9) and other genes with platelet dysfunction and CBFA2/RUNX1 mutation: insights from platelet expression profiling.

Regulation of platelet myosin light chain (MYL9) by RUNX1: implications for thrombocytopenia and platelet dysfunction in RUNX1 haplodeficiency

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scholarly article

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10.1111/JTH.13619

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4

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15

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Robert J. Freishtat

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2017-02-23T00:00:00Z

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28075530

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5378588

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