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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

Related topics

Related topics

11 relations
AP3B1 geneAutosomal recessive inheritanceHip DysplasiaLow-set ears
(More)

Broader (1)

Hermanski-Pudlak Syndrome

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
HERMANSKY-PUDLAK SYNDROME 2
Thrombocytopenia
Autosomal recessive inheritance
Photophobia
Nystagmus
Hermanski-Pudlak Syndrome

Papers overview

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2016
2016
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.
Genetic disorders affecting biogenesis and transport of lysosome-related organelles are heterogeneous diseases frequently… (More)
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2013
2013
Occurrence of Nodular Lymphocyte-Predominant Hodgkin Lymphoma in Hermansky-Pudlak Type 2 Syndrome Is Associated to Natural Killer and Natural Killer T Cell Defects
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
Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism
Hypopigmentation disorders that are associated with immunodeficiency feature both partial albinism of hair, skin and eyes… (More)
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2012
2012
Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2
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
Antidiabetic properties of purified polysaccharide from Hedysarum polybotrys.
Hedysarum polybotrys polysaccharide (HPS) is the principal active fraction responsible for the antidiabetic properties of this… (More)
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2010
2010
Epithelial stress and apoptosis underlie Hermansky-Pudlak syndrome-associated interstitial pneumonia.
RATIONALE The molecular mechanisms underlying Hermansky-Pudlak syndrome-associated interstitial pneumonia (HPSIP) are poorly… (More)
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2007
2007
Susceptibility of Hermansky-Pudlak mice to bleomycin-induced type II cell apoptosis and fibrosis.
Pulmonary inflammation, abnormalities in type II cell and macrophage morphology, and pulmonary fibrosis are features of Hermansky… (More)
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2003
2003
I-Tim-izing the pathways of counter-regulation
target cells. The cells were able to release interferon-γ, however, by the constitutive secretory pathway. Given that perforin… (More)
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