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HERMANSKY-PUDLAK SYNDROME 2

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

Related topics

Related topics

11 relations
AP3B1 geneAutosomal recessive inheritanceHip DysplasiaLow-set ears

Broader (1)

Hermanski-Pudlak Syndrome

Papers overview

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2019
2019
Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky–Pudlak syndrome type 2
Hermansky–Pudlak syndrome type 2 (HPS2) is an extremely rare autosomal recessive inherited disease characterized by partial… 
2017
2017
Hermansky–Pudlak syndrome type 2: Aberrant pre‐mRNA splicing and mislocalization of granule proteins in neutrophils
Hermansky–Pudlak syndrome type 2 (HPS2) is a syndrome caused by mutations in the beta‐3A subunit of the adaptor protein (AP)‐3… 
Highly Cited
2016
Highly Cited
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… 
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… 
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… 
2012
2012
Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2
BackgroundHermansky-Pudlak syndrome 2 (HPS2; OMIM #608233) is a rare, autosomal recessive disorder caused by loss-of-function… 
2010
2010
Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1
Hermansky Pudlak syndrome type 2 (HPS2) is a rare disorder associated with mutations in the Adaptor Protein 3 (AP-3) complex… 
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… 
Highly Cited
2007
Highly Cited
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… 
2003
2003
I-Tim-izing the pathways of counter-regulation
Tim-3, a member of the T cell immunoglobulin mucin family, is expressed by TH1 cells. Analysis of Tim-3–Tim3 ligand signaling now… 
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