Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis. - Wikidata - awgldk - TriplyDB

Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis.

Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis.

http://www.wikidata.org/entity/Q36447981

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JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia Contributions to neutropenia from PFAAP5 (N4BP2L2), a novel protein mediating transcriptional repressor cooperation between Gfi1 and neutrophil elastase High throughput digital quantification of mRNA abundance in primary human acute myeloid leukemia samples A syndrome with congenital neutropenia and mutations in G6PC3 The diversity of mutations and clinical outcomes for ELANE-associated neutropenia Congenital defects in neutrophil dynamics Neutrophils: Between host defence, immune modulation, and tissue injury The many causes of severe congenital neutropenia Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis.Congenital neutropenia: diagnosis, molecular bases and patient management.Inherited bone marrow failure syndromes in adolescents and young adults.Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes.Neutrophil elastase, proteinase 3, and cathepsin G as therapeutic targets in human diseases.Evaluation and management of patients with isolated neutropenia Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation.Activation of the unfolded protein response is associated with impaired granulopoiesis in transgenic mice expressing mutant Elane.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.ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology Wnt3a stimulates maturation of impaired neutrophils developed from severe congenital neutropenia patient-derived pluripotent stem cells.Neutrophil stress and apoptosis underlie myeloid dysfunction in glycogen storage disease type Ib Pathophysiology and management of inherited bone marrow failure syndromes.Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R.A congenital neutrophil defect syndrome associated with mutations in VPS45.Genetic and molecular diagnosis of severe congenital neutropenia.Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms.Recent insights into inherited bone marrow failure syndromes.Neutropenia and primary immunodeficiency diseases.Different clinical phenotypes in familial severe congenital neutropenia cases with same mutation of the ELANE gene Severe congenital neutropenia, a genetically heterogeneous disease group with an increased risk of AML/MDS.Hematopoietic stem cell transplantation for severe congenital neutropenia.Prospects and challenges of reprogrammed cells in hematology and oncology.The multifaceted functions of neutrophils.Cellular stress pathways in pediatric bone marrow failure syndromes: many roads lead to neutropenia.Understanding chronic neutropenia: life is short.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.HOX antisense lincRNA HOXA-AS2 is an apoptosis repressor in all trans retinoic acid treated NB4 promyelocytic leukemia cells Survival and differentiation defects contribute to neutropenia in glucose-6-phosphatase-β (G6PC3) deficiency in a model of mouse neutrophil granulocyte differentiation.The neutrophil elastase mutant affects viability and differentiation of the human monocytic THP-1 cell.Severe congenital neutropenias.

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Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis.

http://www.wikidata.org/entity/Q36447981

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Mutations of the ELA2 gene fou ...... sponse and cellular apoptosis.

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Mutations of the ELA2 gene fou ...... sponse and cellular apoptosis.

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Mutations of the ELA2 gene fou ...... sponse and cellular apoptosis.

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Mutations of the ELA2 gene fou ...... sponse and cellular apoptosis.

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Mutations of the ELA2 gene fou ...... sponse and cellular apoptosis.

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Daniel C Link

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David Dale

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David S Grenda

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Jhuma Ghatak

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Jun Xia

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Laurence A Boxer

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Mark Murakami

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Mary C Dinauer

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P2860

Coupling of stress in the ER to activation of JNK protein kinases by transmembrane protein kinase IRE1

An unfolded putative transmembrane polypeptide, which can lead to endoplasmic reticulum stress, is a substrate of Parkin

Neutrophil elastase enzymatically antagonizes the in vitro action of G-CSF: implications for the regulation of granulopoiesis

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

Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria

IRE1 couples endoplasmic reticulum load to secretory capacity by processing the XBP-1 mRNA

Elastase and cathepsin G of human monocytes. Quantification of cellular content, release in response to stimuli, and heterogeneity in elastase-mediated proteolytic activity

A selective inhibitor of eIF2alpha dephosphorylation protects cells from ER stress

Targeted disruption of the Chop gene delays endoplasmic reticulum stress-mediated diabetes

A trip to the ER: coping with stress

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apoptotic process

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