Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil? - Wikidata - awgldk - TriplyDB

Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil?

Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil?

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Contributions to neutropenia from PFAAP5 (N4BP2L2), a novel protein mediating transcriptional repressor cooperation between Gfi1 and neutrophil elastase A syndrome with congenital neutropenia and mutations in G6PC3 The eEF1γ subunit contacts RNA polymerase II and binds vimentin promoter region Animal models of human granulocyte diseases.A congenital neutrophil defect syndrome associated with mutations in VPS45.Neutropenia and primary immunodeficiency diseases.Congenital and acquired neutropenia consensus guidelines on diagnosis from the Neutropenia Committee of the Marrow Failure Syndrome Group of the AIEOP (Associazione Italiana Emato-Oncologia Pediatrica).Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils.Dynamic interactions of neutrophils and biofilms.Cardiac and renal malformations in a patient with sepsis and severe congenital neutropenia.Recent advances in primary immunodeficiencies: identification of novel genetic defects and unanticipated phenotypes.Genetic analysis and clinical picture of severe congenital neutropenia in Israel.Testicular failure in a patient with G6PC3 deficiency.Mosaicism of an ELANE Mutation in an Asymptomatic Mother in a Familial Case of Cyclic Neutropenia

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Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil?

http://www.wikidata.org/entity/Q36995948

description

2007 nî lūn-bûn

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2007年論文

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2007年論文

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Genetic heterogeneity in sever ...... athways can kill a neutrophil?

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Genetic heterogeneity in sever ...... athways can kill a neutrophil?

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Current Opinion in Allergy and Clinical Immunology

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Genetic heterogeneity in sever ...... athways can kill a neutrophil?

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Alejandro A Schäffer

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Christoph Klein

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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

Cooperative interaction between ETS1 and GFI1 transcription factors in the repression of Bax gene expression

Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia

LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia

Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib

HAX-1, a novel intracellular protein, localized on mitochondria, directly associates with HS1, a substrate of Src family tyrosine kinases

Recombinant human granulocyte colony-stimulating factor: effects on normal and leukemic myeloid cells

Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport

Endoplasmic reticulum stress: cell life and death decisions.

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