Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6 - Wikidata - awgldk - TriplyDB

Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6

Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6

http://www.wikidata.org/entity/Q24610520

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BLOC-2, AP-3, and AP-1 proteins function in concert with Rab38 and Rab32 proteins to mediate protein trafficking to lysosome-related organelles BLOC-2 targets recycling endosomal tubules to melanosomes for cargo delivery.Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity.Current Strategies in Diagnosis of Inherited Storage Pool Defects Defective PDI release from platelets and endothelial cells impairs thrombus formation in Hermansky-Pudlak syndrome Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.Mechanisms of protein delivery to melanosomes in pigment cells.Genetic studies provide clues on the pathogenesis of idiopathic pulmonary fibrosis.Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population The hermansky-pudlak syndrome: clinical features and imperatives from an ophthalmic perspective.A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome.Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism The ophthalmic presentation of Hermansky-Pudlak syndrome 6.Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations.Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting.NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients.Biogenesis of Melanosomes

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Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6

http://www.wikidata.org/entity/Q24610520

description

2009 nî lūn-bûn

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2009 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

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2009 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年论文

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Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6

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Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6

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Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6

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Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6

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Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6

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Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6

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Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6

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Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6

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Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6

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JMG.2008.065961

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Journal of Medical Genetics

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Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6

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P2860

Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor

Pmel17 initiates premelanosome morphogenesis within multivesicular bodies

A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)

BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4

Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6

Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)

BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles

Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency

Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)

Distinct protein sorting and localization to premelanosomes, melanosomes, and lysosomes in pigmented melanocytic cells

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