The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome - Wikidata - wikimedia - TriplyDB

The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome

The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome

http://www.wikidata.org/entity/Q36560640

about

BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4 Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.The AP-3 complex required for endosomal synaptic vesicle biogenesis is associated with a casein kinase Ialpha-like isoform The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking A unique region of RILP distinguishes it from its related proteins in its regulation of lysosomal morphology and interaction with Rab7 and Rab34 Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2 Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome A mutation in Rab27a causes the vesicle transport defects observed in ashen mice BLOC-1 and BLOC-3 regulate VAMP7 cycling to and from melanosomes via distinct tubular transport carriers Multi-organellar disorders of pigmentation: tied up in traffic.Regulated secretion from hemopoietic cells.Intracisternal A-particle element transposition into the murine beta-glucuronidase gene correlates with loss of enzyme activity: a new model for beta-glucuronidase deficiency in the C3H mouse Hermansky-Pudlak syndrome and related disorders of organelle formation.The impact of L1 retrotransposons on the human genome.Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.The dark side of lysosome-related organelles: specialization of the endocytic pathway for melanosome biogenesis.Defective pigment granule biogenesis and aberrant behavior caused by mutations in the Drosophila AP-3beta adaptin gene ruby.Hermansky-Pudlak syndrome: vesicle formation from yeast to man.Hypertension, chronic kidney disease, and renal pathology in a child with hermansky-pudlak syndrome.Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome.Hermansky-Pudlak syndrome: infrequent bleeding and first report of Turkish and Pakistani kindreds.Mechanisms of protein delivery to melanosomes in pigment cells.Pigment, platelets, and Hermansky-Pudlak in human and mouse.Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis.Ocular pathologic features of Hermansky-Pudlak syndrome type 1 in an adult snow white, a zebrafish model of Hermansky-Pudlak Syndrome type 5 Lung-restricted macrophage activation in the pearl mouse model of Hermansky-Pudlak syndrome.BLOC-2 subunit HPS6 deficiency affects the tubulation and secretion of von Willebrand factor from mouse endothelial cells.Organelle biogenesis: en BLOC exchange for RAB32 and RAB38.Aberrant lung structure, composition, and function in a murine model of Hermansky-Pudlak syndrome.Identification and characterization of a melanocyte-specific novel 65-kDa peripheral membrane protein.Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.Skin layer-specific transcriptional profiles in normal and recessive yellow (Mc1re/Mc1re) mice.A Caenorhabditis elegans model of orotic aciduria reveals enlarged lysosome-related organelles in embryos lacking umps-1 function.Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations.Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis.Biogenesis of Melanosomes

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The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome

http://www.wikidata.org/entity/Q36560640

description

1997 nî lūn-bûn

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1997年論文

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1997年論文

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1997年論文

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1997年論文

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1997年论文

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1997年论文

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1997年论文

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name

The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome

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The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome

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type

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The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome

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The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome

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prefLabel

The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome

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The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome

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PNAS.94.17.9238

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Proceedings of the National Academy of Sciences of the United States of America

P1476

The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome

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P2093

A L Lehman

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E K Novak

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J N Finger

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M E Bayer

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M E Rusiniak

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N M Keiper

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N Puri

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P2860

Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles

Alternative expression of platelet glycoprotein Ib(beta) mRNA from an adjacent 5' gene with an imperfect polyadenylation signal sequence

A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2

A new method for predicting signal sequence cleavage sites

Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies

The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes

Mouse Fgf7 (fibroblast growth factor 7) and Fgf8 (fibroblast growth factor 8) genes map to chromosomes 2 and 19 respectively

Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci

Molecular markers near the mouse brachymorphic (bm) gene, which affects connective tissues and bleeding time

Sexual differentiation and regulation of cytochrome P-450 CYP2C7

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