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HERMANSKY-PUDLAK SYNDROME 5

Known as: HPS5 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2004-2017
012320042017

Related topics

Related topics

1 relation
HPS5, 4-BP DEL, CODON 675, AGTT

Related mentions per year

Related mentions per year

1968-2017
1960198020002020
HERMANSKY-PUDLAK SYNDROME 5
HPS5, 4-BP DEL, CODON 675, AGTT

Papers overview

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2017
2017
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5
Hermansky-Pudlak syndrome (HPS) is a heterogeneous group of genetic disorders typically manifesting with tyrosinase-positive… (More)
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2013
2013
Hermansky-Pudlak syndrome (HPS5) in a nonagenarian.
Hermansky-Pudlak syndrome (HPS) is an autosomal-recessive disorder clinically characterized by oculocutaneous albinism, bleeding… (More)
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2012
2012
A homolog of the human Hermansky–Pudluck syndrome-5 (HPS5) gene is responsible for the oa larval translucent mutants in the silkworm, Bombyx mori
Normally, many granules containing uric acid accumulate in the larval integument of the silkworm, Bombyx mori. These uric acid… (More)
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2008
2008
Bone marrow ectopic expression of a non-coding RNA in childhood T-cell acute lymphoblastic leukemia with a novel t(2;11)(q11.2;p15.1) translocation
Chromosomal translocations play a crucial role in tumorigenesis, often resulting in the formation of chimeric genes or in gene… (More)
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2007
2007
Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5.
Hermansky-Pudlak syndrome (HPS) is a disorder of lysosome-related organelle biogenesis resulting in melanosome dysfunction and… (More)
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2004
2004
Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6.
Hermansky-Pudlak syndrome (HPS) defines a group of at least seven autosomal recessive disorders characterized by albinism and… (More)
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2004
2004
The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2).
Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous inherited disease affecting vesicle trafficking among lysosome… (More)
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2004
2004
Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis.
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and a platelet… (More)
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