HERMANSKY-PUDLAK SYNDROME 2

Known as: HPS2, Hermansky Pudlak syndrome 2, Platelet defects and oculocutaneous albinism 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2003-2016
01220032016

Papers overview

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2016
2016
Genetic disorders affecting biogenesis and transport of lysosome-related organelles are heterogeneous diseases frequently… (More)
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2013
2013
Hermansky Pudlak type 2 syndrome (HPS2) is a rare autosomal recessive primary immune deficiency caused by mutations on β3A gene… (More)
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Review
2013
Review
2013
Hypopigmentation disorders that are associated with immunodeficiency feature both partial albinism of hair, skin and eyes… (More)
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2012
2012
Hermansky-Pudlak syndrome 2 (HPS2; OMIM #608233) is a rare, autosomal recessive disorder caused by loss-of-function genetic… (More)
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2010
2010
Hedysarum polybotrys polysaccharide (HPS) is the principal active fraction responsible for the antidiabetic properties of this… (More)
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2010
2010
RATIONALE The molecular mechanisms underlying Hermansky-Pudlak syndrome-associated interstitial pneumonia (HPSIP) are poorly… (More)
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2007
2007
Pulmonary inflammation, abnormalities in type II cell and macrophage morphology, and pulmonary fibrosis are features of Hermansky… (More)
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2003
2003
target cells. The cells were able to release interferon-γ, however, by the constitutive secretory pathway. Given that perforin… (More)
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