James A Curry's research while affiliated with National Human Genome Research Institute and other places
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Publications (5)
Hermansky-Pudlak Syndrome (HPS) is a genetically heterogeneous disorder of lysosome-related organelle biogenesis and is characterized by oculocutaneous albinism and a bleeding diathesis. Over the past decade, we screened 250 patients with HPS-like symptoms for mutations in the genes responsible for HPS subtypes 1-6. We identified 38 individuals wit...
We evaluated a 32-year-old woman whose oculocutaneous albinism (OCA), bleeding diathesis, neutropenia, and history of recurrent infections prompted consideration of the diagnosis of Hermansky-Pudlak syndrome type 2. This was ruled out because of the presence of platelet δ-granules and absence of AP3B1 mutations. As parental consanguinity suggested...
Hermansky-Pudlak Syndrome (HPS) is an autosomal-recessive condition characterized by oculocutaneous albinism and a bleeding diathesis due to absent platelet delta granules. HPS is a genetically heterogeneous disorder of intracellular vesicle biogenesis. We first screened all our patients with HPS-like symptoms for mutations in the genes responsible...
Citations
... The associated ocular abnormalities include nystagmus and foveal hypoplasia with a substantial reduction in visual acuity [10]. Eleven different HPS types have been reported (HPS1-HPS-11) with common visual acuity and variable bleeding manifestations [11][12][13]. HPS-1 affects individuals of different ethnicities, including those from Western Europe, Japan, the Middle East, the Indian Subcontinent, and non-Puerto Rican Hispanic people [14][15][16]. HPS affects 1/1,500,000-1,000,000 individuals globally, although the prevalence is 1/1800 in individuals of Puerto Rican origin [17]. ...
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... to medical treatment and often requires surgery. [2][3][4][5][6][7][8][9][10][11] Improving clinical outcomes for affected patients depends on understanding the underlying disease mechanisms, which are currently unknown. ...
... Hermansky-Pudlak syndrome (HPS) is firstly reported by Hermansky and Pudlak 1) in 1959 and autosomal recessive genodermatosis consisted of oculocutaneous albinism (OCA), platelet storage pool deficiency, and lysosomal accumulation of ceroid lipofuscin 2) . The symptom was thought to be developed by disfunction of lysosome, and 9 genes have been reported 3) . ...
