about
Circulating fibrocytes as biomarker of prognosis in Hermansky-Pudlak syndrome.BLOC-1 and BLOC-3 regulate VAMP7 cycling to and from melanosomes via distinct tubular transport carriersUpdate on the causes of platelet disorders and functional consequences.Dysregulation of PLDN (pallidin) is a mechanism for platelet dense granule deficiency in RUNX1 haplodeficiency.A genome-wide small interfering RNA (siRNA) screen reveals nuclear factor-κB (NF-κB)-independent regulators of NOD2-induced interleukin-8 (IL-8) secretionRegulation of mRNA abundance by polypyrimidine tract-binding protein-controlled alternate 5' splice site choiceDefective release of α granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models.Unexpected intra-operative bleeding due to Hermansky-Pudlak Syndrome.Super-resolution microscopy as a potential approach to diagnosis of platelet granule disorders.A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome.Physiological and pathophysiological role of nonsense-mediated mRNA decay.Management of Hermansky-Pudlak syndrome in pregnancy and review of literature.Rab32 restriction of intracellular bacterial pathogens.Social innovation for the promotion of health equity.Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinismPulmonary Fibrosis in Hermansky-Pudlak Syndrome.Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations.Biogenesis of zinc storage granules in Drosophila melanogaster.NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients.Galectin-3 Interacts with the CHI3L1 Axis and Contributes to Hermansky-Pudlak Syndrome Lung Disease.A deletion in the Hermansky-Pudlak syndrome 4 (Hps4) gene appears to be responsible for albinism in channel catfish.Hermansky-Pudlak Syndrome.Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood.Platelet dense granules begin to selectively accumulate mepacrine during proplatelet formation
P2860
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P2860
description
2013 nî lūn-bûn
@nan
2013 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Hermansky-Pudlak syndrome: health care throughout life.
@ast
Hermansky-Pudlak syndrome: health care throughout life.
@en
Hermansky-Pudlak syndrome: health care throughout life.
@nl
type
label
Hermansky-Pudlak syndrome: health care throughout life.
@ast
Hermansky-Pudlak syndrome: health care throughout life.
@en
Hermansky-Pudlak syndrome: health care throughout life.
@nl
prefLabel
Hermansky-Pudlak syndrome: health care throughout life.
@ast
Hermansky-Pudlak syndrome: health care throughout life.
@en
Hermansky-Pudlak syndrome: health care throughout life.
@nl
P356
P1433
P1476
Hermansky-Pudlak syndrome: health care throughout life.
@en
P2093
Samuel L Seward
William A Gahl
P304
P356
10.1542/PEDS.2012-4003
P407
P577
2013-06-10T00:00:00Z