Hermanski-Pudlak Syndrome

Known as: Hermanski Pudlak Syndrome, Hermanski-Pudlak Syndrome [Disease/Finding], HPS (Hermansky Pudlak syndrome) 
Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal… (More)
National Institutes of Health

Related topics

Related topics

11 relations

Broader (1)

Albinism

Narrower (2)

Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cellsHERMANSKY-PUDLAK SYNDROME 2
Blood Platelet DisordersIn BloodMicrobiologicalPlatelet Storage Pool Deficiency
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Papers overview

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Highly Cited
2009
Highly Cited
2009
Platelet Polyphosphates Are Proinflammatory and Procoagulant Mediators In Vivo
Platelets play a central role in thrombosis, hemostasis, and inflammation. We show that activated platelets release inorganic… (More)
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Highly Cited
2006
Highly Cited
2006
Catechol-O-methyltransferase gene polymorphisms are associated with multiple pain-evoking stimuli.
Variations in the gene encoding catechol-O-methyltransferase (COMT) are linked to individual differences in pain sensitivity. A… (More)
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Highly Cited
2005
Highly Cited
2005
Genetic basis for individual variations in pain perception and the development of a chronic pain condition.
Pain sensitivity varies substantially among humans. A significant part of the human population develops chronic pain conditions… (More)
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Highly Cited
2005
Highly Cited
2005
Natural history of hepatopulmonary syndrome: Impact of liver transplantation.
Few data exist concerning survival after the diagnosis of hepatopulmonary syndrome (HPS). Although orthotopic liver… (More)
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Highly Cited
2003
Highly Cited
2003
Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)
Hermansky-Pudlak syndrome (HPS; MIM 203300) is a genetically heterogeneous disorder characterized by oculocutaneous albinism… (More)
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Highly Cited
2002
Highly Cited
2002
A phase I study of the natural killer T-cell ligand alpha-galactosylceramide (KRN7000) in patients with solid tumors.
PURPOSE alpha-galactosylceramide (KRN7000) is a glycosphingolipid that has been shown to inhibit tumor growth and to prolong… (More)
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Highly Cited
2001
Highly Cited
2001
Rab27a Is Required for Regulated Secretion in Cytotoxic T Lymphocytes
Rab27a activity is affected in several mouse models of human disease including Griscelli (ashen mice) and Hermansky-Pudlak… (More)
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Review
2000
Review
2000
Lysosome-related organelles.
Lysosomes are membrane-bound cytoplasmic organelles involved in intracellular protein degradation. They contain an assortment of… (More)
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Highly Cited
1999
Highly Cited
1999
Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor.
Hermansky-Pudlak syndrome (HPS) is a genetic disorder characterized by defective lysosome-related organelles. Here, we report the… (More)
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Highly Cited
1975
Highly Cited
1975
Permeability of muscle capillaries to small heme-peptides. Evidence for the existence of patent transendothelial channels
Two heme-peptides (HP) of about 20-A diameter (heme-undecapeptide [H11P], mol wt approximately 1900 and heme-octapeptide [H8P… (More)
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