Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. - Wikidata - wikimedia - TriplyDB

Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.

Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.

http://www.wikidata.org/entity/Q42642928

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Altered expression of a novel adaptin leads to defective pigment granule biogenesis in the Drosophila eye color mutant garnet Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles Deficient peptide loading and MHC class II endosomal sorting in a human genetic immunodeficiency disease: the Chediak-Higashi syndrome Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A A unique region of RILP distinguishes it from its related proteins in its regulation of lysosomal morphology and interaction with Rab7 and Rab34 Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation The molecular pathology of primary immunodeficiencies The WD-repeat protein superfamily in Arabidopsis: conservation and divergence in structure and function Cytotoxic granule secretion by lymphocytes and its link to immune homeostasis Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism Towards the targeted management of Chediak-Higashi syndrome Hemophagocytic lymphohistiocytosis: an update on diagnosis and pathogenesis Elevated oxidative membrane damage associated with genetic modifiers of Lyst-mutant phenotypes Crystal structure of the BEACH domain reveals an unusual fold and extensive association with a novel PH domain Bph1p, the Saccharomyces cerevisiae homologue of CHS1/beige, functions in cell wall formation and protein sorting.Update on the regulation of mammalian melanocyte function and skin pigmentation Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome A thiol proteinase inhibitor, E-64-d, corrects the abnormalities in concanavalin A cap formation and the lysosomal enzyme activity in leucocytes from patients with Chediak-Higashi syndrome by reversing the down-regulated protein kinase C activity Control of parasitophorous vacuole expansion by LYST/Beige restricts the intracellular growth of Leishmania amazonensis Molecular genetic dissection of mouse unconventional myosin-VA: tail region mutations Impaired neutral sphingomyelinase activation and cutaneous barrier repair in FAN-deficient mice The Beige/Chediak-Higashi syndrome gene encodes a widely expressed cytosolic protein LvsA, a protein related to the mouse beige protein, is required for cytokinesis in Dictyostelium.The late endosomal adaptor molecule p14 (LAMTOR2) represents a novel regulator of Langerhans cell homeostasis.BEACH family of proteins: phylogenetic and functional analysis of six Dictyostelium BEACH proteins.A Genetic Screen Identifies a Critical Role for the WDR81-WDR91 Complex in the Trafficking and Degradation of Tetherin.EBAG9 tempers lymphocyte killing activity.Bacterial invasion and persistence: critical events in the pathogenesis of periodontitis?Inherited platelet disorders: thrombocytopenias and thrombocytopathies.Combining RNA interference mutants and comparative proteomics to identify protein components and dependences in a eukaryotic flagellum.Current Strategies in Diagnosis of Inherited Storage Pool Defects Large granules in the peripheral blood smear and bone marrow aspirate of a 3-year-old male with lymphadenopathy and fever.Dawning of the age of genomics for platelet granule disorders: improving insight, diagnosis and management.Comparative genomics and host resistance against infectious diseases Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients Multi-organellar disorders of pigmentation: tied up in traffic.Regulated secretion from hemopoietic cells.Two novel mutations identified in an african-american child with chediak-higashi syndrome.Animal models for chronic obstructive pulmonary disease: age of klotho and marlboro mice.

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P2860

Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.

http://www.wikidata.org/entity/Q42642928

description

1996 nî lūn-bûn

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1996年の論文

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1996年論文

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1996年論文

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1996年論文

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1996年論文

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1996年論文

@zh-tw

1996年论文

@wuu

1996年论文

@zh

1996年论文

@zh-cn

name

Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.

@en

Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.

@nl

type

label

Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.

@en

Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.

@nl

prefLabel

Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.

@en

Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.

@nl

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Nature Genetics

P1476

Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.

@en

P2093

Boissy RE

http://www.w3.org/2001/XMLSchema#string

Dussault BJ Jr

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Duyk GM

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Holmgren L

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Karim MA

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McGrail SH

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Misumi DJ

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Moore KJ

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Nagle DL

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Spritz RA

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P2860

Crystal structure of a G-protein beta gamma dimer at 2.1A resolution

A repeating amino acid motif shared by proteins with diverse cellular roles

The ancient regulatory-protein family of WD-repeat proteins

Defective lysosomal enzyme secretion in kidneys of Chediak-Higashi (beige) mice

Analysis of compositionally biased regions in sequence databases

Identification of the homologous beige and Chediak-Higashi syndrome genes.

Protein sequence motifs.

Applying motif and profile searches.

Identification of the murine beige gene by YAC complementation and positional cloning.

P2888

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307-311

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scholarly article

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10.1038/NG1196-307

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3

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14

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Charles M. Perou

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1996-11-01T00:00:00Z

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14309557

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1030728133

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8896560

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