Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms. - Wikidata - wikimedia - TriplyDB

Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms.

Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms.

http://www.wikidata.org/entity/Q37512093

about

JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia The diversity of mutations and clinical outcomes for ELANE-associated neutropenia Congenital defects in neutrophil dynamics Neonatal manifestations of inherited bone marrow failure syndromes.Pathogenesis of ELANE-mutant severe neutropenia revealed by induced pluripotent stem cells Characterisation of Neutropenia-Associated Neutrophil Elastase Mutations in a Murine Differentiation Model In Vitro and In Vivo.A Truncated Granulocyte Colony-stimulating Factor Receptor (G-CSFR) Inhibits Apoptosis Induced by Neutrophil Elastase G185R Mutant: IMPLICATION FOR UNDERSTANDING CSF3R GENE MUTATIONS IN SEVERE CONGENITAL NEUTROPENIA.Severe congenital neutropenias.Paucimannose-Rich N-glycosylation of Spatiotemporally Regulated Human Neutrophil Elastase Modulates Its Immune Functions.Successful second hematopoietic cell transplantation in severe congenital neutropenia.Neutrophil function in children following allogeneic hematopoietic stem cell transplant.

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Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms.

http://www.wikidata.org/entity/Q37512093

description

2013 nî lūn-bûn

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2013年の論文

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年學術文章

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2013年學術文章

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2013年學術文章

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name

Neutropenia-associated ELANE m ...... neutrophil elastase isoforms.

@en

Neutropenia-associated ELANE m ...... neutrophil elastase isoforms.

@nl

type

label

Neutropenia-associated ELANE m ...... neutrophil elastase isoforms.

@en

Neutropenia-associated ELANE m ...... neutrophil elastase isoforms.

@nl

prefLabel

Neutropenia-associated ELANE m ...... neutrophil elastase isoforms.

@en

Neutropenia-associated ELANE m ...... neutrophil elastase isoforms.

@nl

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Neutropenia-associated ELANE m ...... l neutrophil elastase isoforms

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Carolyn Lutzko

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Jean Donadieu

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Jeremy Wechsler

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Jerry C Cheng

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Jose A Cancelas

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Lisa Trump

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Ramesh C Nayak

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Seth J Corey

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Stephen J Salipante

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Taly Glaubach

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P2860

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

C/EBPα Dysregulation in AML and ALL

Contributions to neutropenia from PFAAP5 (N4BP2L2), a novel protein mediating transcriptional repressor cooperation between Gfi1 and neutrophil elastase

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A map of human genome variation from population-scale sequencing

Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2

A syndrome with congenital neutropenia and mutations in G6PC3

Mutations in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 21

Emerging links between initiation of translation and human diseases

Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome

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562-569

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10.1182/BLOOD-2013-07-513242

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H. Leighton Grimes

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