Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron.
about
Identification of a novel human tankyrase through its interaction with the adaptor protein Grb14BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granulesThe 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 organellesBLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle traffickingNonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2A mutation in Rab27a causes the vesicle transport defects observed in ashen miceMulti-organellar disorders of pigmentation: tied up in traffic.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 mouseAnalysis of the lysosomal storage disease Chediak-Higashi syndrome.Hermansky-Pudlak syndrome and related disorders of organelle formation.Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy.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.The murine misty mutation: phenotypic effects on melanocytes, platelets and brown fatHermansky-Pudlak syndrome: vesicle formation from yeast to man.Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome.Hermansky-Pudlak syndrome: infrequent bleeding and first report of Turkish and Pakistani kindreds.The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndromeCysteine cathepsins and caspases in silicosis.Lung-restricted macrophage activation in the pearl mouse model of Hermansky-Pudlak syndrome.Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1.Analysis of canonical and non-canonical splice sites in mammalian genomesAberrant 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.Reduced expression of the dysbindin-like gene in the Bombyx mori ov mutant exhibiting mottled translucency of the larval skin.Skin layer-specific transcriptional profiles in normal and recessive yellow (Mc1re/Mc1re) mice.Gene-edited MLE-15 Cells as a Model for the Hermansky Pudlak Syndromes.Inflammatory response and cathepsins in silica-exposed Hermansky-Pudlak syndrome model pale ear mice.Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis.
P2860
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P2860
Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron.
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年学术文章
@wuu
1997年学术文章
@zh
1997年学术文章
@zh-cn
1997年学术文章
@zh-hans
1997年学术文章
@zh-my
1997年学术文章
@zh-sg
1997年學術文章
@yue
1997年學術文章
@zh-hant
name
Mouse pale ear (ep) is homolog ...... ontains a rare 'AT-AC' intron.
@en
Mouse pale ear
@nl
type
label
Mouse pale ear (ep) is homolog ...... ontains a rare 'AT-AC' intron.
@en
Mouse pale ear
@nl
prefLabel
Mouse pale ear (ep) is homolog ...... ontains a rare 'AT-AC' intron.
@en
Mouse pale ear
@nl
P2093
P2860
P356
P1476
Mouse pale ear (ep) is homolog ...... ontains a rare 'AT-AC' intron.
@en
P2093
P2860
P304
P356
10.1093/HMG/6.5.793
P577
1997-05-01T00:00:00Z