Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2 - Wikidata - wikimedia - TriplyDB

Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2

Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2

http://www.wikidata.org/entity/Q24685566

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JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation Clinical characteristics and treatment outcomes of autoimmune-associated hemophagocytic syndrome in adults Genome-wide analysis of AP-3-dependent protein transport in yeast Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity.The late endosomal adaptor molecule p14 (LAMTOR2) represents a novel regulator of Langerhans cell homeostasis.Potential large animal models for gene therapy of human genetic diseases of immune and blood cell systems Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1.Slc15a4, AP-3, and Hermansky-Pudlak syndrome proteins are required for Toll-like receptor signaling in plasmacytoid dendritic cells.A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2 The late endosomal adaptor molecule p14 (LAMTOR2) regulates TGFβ1-mediated homeostasis of Langerhans cells Hypertension, chronic kidney disease, and renal pathology in a child with hermansky-pudlak syndrome.Neutrophil elastase in cyclic and severe congenital neutropenia.Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease Identification of Atg2 and ArfGAP1 as Candidate Genetic Modifiers of the Eye Pigmentation Phenotype of Adaptor Protein-3 (AP-3) Mutants in Drosophila melanogaster.Adaptor protein-3 in dendritic cells facilitates phagosomal toll-like receptor signaling and antigen presentation to CD4(+) T cells.Mycobacterium avium MAV_2941 mimics phosphoinositol-3-kinase to interfere with macrophage phagosome maturation.An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome Animal models of human granulocyte diseases.The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2 Invariant natural killer cells in the response to bacteria: the advent of specific antigens.Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil?Genetic and molecular diagnosis of severe congenital neutropenia.Neutropenia and primary immunodeficiency diseases.Inherited defects in lymphocyte cytotoxic activity.Insights into NK cell biology from human genetics and disease associations.Primary immunodeficiency diseases associated with neurologic manifestations.Primary immunodeficiency associated with defects in CD1 and CD1-restricted T cells.Granule protein processing and regulated secretion in neutrophils.Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils.Defective HIV-1 particle assembly in AP-3-deficient cells derived from patients with Hermansky-Pudlak syndrome type 2.Resveratrol attenuates vascular endothelial inflammation by inducing autophagy through the cAMP signaling pathway.Genomic regulatory blocks encompass multiple neighboring genes and maintain conserved synteny in vertebrates.Novel mutation in Hermansky-Pudlak syndrome type 2 with mild immunological phenotype.Prophylactic low-dose aspirin is effective antithrombotic therapy for combination treatments of thalidomide or lenalidomide in myeloma.Neutrophil Evolution and Their Diseases in Humans.Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations.Bone Marrow Myeloid Cells Regulate Myeloid-Biased Hematopoietic Stem Cells via a Histamine-Dependent Feedback Loop.A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14.

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P2860

Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2

http://www.wikidata.org/entity/Q24685566

description

2006 nî lūn-bûn

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2006 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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2006 թվականի հուլիսին հրատարակված գիտական հոդված

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2006年の論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年论文

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name

Identification of a homozygous ...... mansky-Pudlak syndrome, type 2

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Identification of a homozygous ...... mansky-Pudlak syndrome, type 2

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Identification of a homozygous ...... mansky-Pudlak syndrome, type 2

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Identification of a homozygous ...... mansky-Pudlak syndrome, type 2

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Identification of a homozygous ...... mansky-Pudlak syndrome, type 2

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Identification of a homozygous ...... mansky-Pudlak syndrome, type 2

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Identification of a homozygous ...... mansky-Pudlak syndrome, type 2

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Identification of a homozygous ...... mansky-Pudlak syndrome, type 2

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Identification of a homozygous ...... mansky-Pudlak syndrome, type 2

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Identification of a homozygous ...... mansky-Pudlak syndrome, type 2

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Alejandro A Schäffer

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Anna Allroth

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Bodo Grimbacher

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Carmela Beger

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Chozhavendan Rathinam

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Christoph Klein

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Georg Bohn

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Gudrun Brandes

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Inga Köllner

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Inga Sandrock

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P2860

The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness

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

AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes

Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene

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

Altered expression of a novel adaptin leads to defective pigment granule biogenesis in the Drosophila eye color mutant garnet

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

Characterization of the adaptor-related protein complex, AP-3

Functions of adaptor protein (AP)-3 and AP-1 in tyrosinase sorting from endosomes to melanosomes

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

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