tyrosinase/kanama

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Abnormal translocation of tyrosinase and tyrosinase-related protein 1 in cutaneous melanocytes of Hermansky-Pudlak Syndrome and in melanoma cells transfected with anti-sense HPS1 cDNA.

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Hermansky-Pudlak syndrome is an autosomal recessive disorder characterized by oculocutaneous albinism, a bleeding disorder, and, in some patients, ceroid storage and progressive lung disease. Although Hermansky-Pudlak syndrome exhibits locus heterogeneity, most patients have mutations in the HPS1

Hermansky-Pudlak syndrome with a novel genetic variant in HPS1 and subsequent accelerated pulmonary fibrosis: significance for phenocopy diseases.

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The Hermansky-Pudlak syndrome (HPS) is a collection of autosomal-recessive disorders characterised by tyrosinase-positive oculocutaneous albinism (OCA), bleeding diatheses and, in selected individuals, early-onset accelerated pulmonary fibrosis, neutropaenia and granulomatous colitis. We describe a

Hermansky-Pudlak syndrome with interstitial lung disease: A holistically worked up couplet.

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Hermansky-Pudlak syndrome (HPS) is an extremely subtile autosomal recessive disorder characterized by tyrosinase-positive oculocutaneous albinism (Ty-pos OCA), bleeding tendencies, and systemic complications associated to lysosomal dysfunction. The most grave complication of disease is interstitial

[Hermansky-Pudlak syndrome].

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Hermansky-Pudlak syndrome is a hereditary disease with an autosomal recessive mode of inheritance, characterized by the triad of tyrosinase-positive oculocutaneous albinism, a hemorrhagic diathesis resulting from storage pool-deficient platelets, and accumulation of ceroid/lipofuscin-like material

Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking.

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Hermansky-Pudlak Syndrome (HPS) is a genetically heterogeneous disorder in which mutations in one of several genes interrupts biogenesis of melanosomes, platelet dense bodies, and lysosomes. Affected patients have oculocutaneous albinism, a bleeding diathesis, and sometimes develop granulomatous

Amelanotic metastatic melanoma in a patient with oculocutaneous albinism.

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Melanomas are rare in patients who have albinism, compared with the frequent occurrence of squamous cell carcinomas and basal cell carcinomas. This report describes amelanotic metastatic melanoma in a 58-year-old Japanese man who had tyrosinase-positive oculocutaneous albinism. A prolonged bleeding

Hermansky-Pudlak syndrome: albinism with lipofuscin storage.

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The Hermansky-Pudlak Syndrome, a "tyrosinase positive' form of oculocutaneous albinism, is a triad comprising albinism, a hemorrhagic diathesis and ceroid-lipofuscin storage. A pedigree is presented showing consanguinity with a pattern of pseudodominance. Electroretinography in two isolated

Novel insights from adaptor protein 3 complex deficiency.

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Hermansky-Pudlak type 2 is an autosomal recessive disorder characterized by oculocutaneous albinism, bleeding disorders, recurrent infections, and moderate/severe neutropenia. The disease is caused by mutations in the AP3B1 gene encoding for the beta3A subunit of the adaptor protein 3 (AP-3)

[Albinism, thrombopathy, ceroid storage disease--Hermansky-Pudlak syndrome. Overview and description with immunodeficiency].

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The Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessively inherited triad of oculocutaneous albinism hemorrhagic diathesis and accumulation of ceroid in tissues. This article comprising the published reports of 232 patients is extended by the personal observation of a 7-year-old boy with

Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3.

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Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by the triad of tyrosinase-positive oculocutaneous albinism, bleeding diathesis due to storage-pool deficiency of platelets, and a lysosomal ceroid storage disease. The disorder is particularly frequent in Puerto Rico

Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.

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Hermansky-Pudlak syndrome (HPS) is a heterogeneous group of genetic disorders typically manifesting with tyrosinase-positive oculocutaneous albinism, bleeding diathesis, and pulmonary fibrosis, in some subtypes. Most HPS subtypes are associated with defects in Biogenesis of Lysosome-related

[Primary uterine cervix melanoma].

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The purpose of this paper is to present a rare clinical case of primary uterine cervix melanoma. Clinical data and histological specimens were a material for this investigation. The paper describes a case of primary uterine cervix melanoma in a 47-year-old patient who visited a gynecologist for

Vaginal melanoma: a clinicopathologic and immunohistochemical study of 26 cases.

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Malignant melanomas of the vagina are rare tumors. In this study we present the clinicopathologic features and immunohistochemical analysis of 26 such cases seen in our institution over a period of 30 years. The patients' age ranged from 38 to 90 years (mean 60 years); three patients were

Metastatic melanoma to the vagina: clinicopathologic and immunohistochemical study of three cases and literature review.

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We report the clinicopathologic features of three cases of malignant melanoma metastatic to the vagina; only one similar case has been previously reported. The age of the patients ranged from 33 to 70 years; two presented with vaginal bleeding. Two patients had a history of a previous primary

[Perivascular epithelioid cell tumor (PEComa) of the liver: a case report and review of the literature].

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Perivascular epithelioid cell tumor (PEComa) is rare entity and has been described only recently. By immunohistochemistry and genetics it belongs to the family of tumours which comprises angiomyolipoma, clear cell "sugar" tumor of lung, lymphangioleiomyomatosis and clear cell myomelanotic tumor of

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