Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia. - Wikidata - awgldk - TriplyDB

Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia.

Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia.

http://www.wikidata.org/entity/Q35126281

about

Uncommon cause of recurrent infections AMD3100 is a potent antagonist at CXCR4(R334X) , a hyperfunctional mutant chemokine receptor and cause of WHIM syndrome The many causes of severe congenital neutropenia Congenital neutropenia: diagnosis, molecular bases and patient management.Genetic predisposition syndromes: when should they be considered in the work-up of MDS?Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis.Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes.Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation.Advances in the treatment of neutropenia.Activation of the unfolded protein response is associated with impaired granulopoiesis in transgenic mice expressing mutant Elane.Gfi1 regulates miR-21 and miR-196b to control myelopoiesis.Pathophysiology and management of inherited bone marrow failure syndromes.Genetic and molecular diagnosis of severe congenital neutropenia.G-CSF receptor (CSF3R) mutations in X-linked neutropenia evolving to acute myeloid leukemia or myelodysplasia.Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.Severe congenital neutropenia, a genetically heterogeneous disease group with an increased risk of AML/MDS.Hematopoietic stem cell transplantation for severe congenital neutropenia.Identification of novel MECOM gene fusion and personalized therapeutic targets through integrative clinical sequencing in secondary acute myeloid leukemia in a patient with severe congenital neutropenia: a case report and literature review.

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Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia.

http://www.wikidata.org/entity/Q35126281

description

2007 nî lūn-bûn

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2007 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年论文

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name

Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia.

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Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia.

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Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia.

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Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia.

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Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia.

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Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia.

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J.1365-2141.2007.06897.X

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British Journal of Haematology

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Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia.

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Andrew A Aprikyan

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Audrey A Bolyard

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Blanche P Alter

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Daniel C Link

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David C Dale

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Elin Rodger

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George Kannourakis

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Laurence A Boxer

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Mary A Bonilla

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Philip S Rosenberg

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P2860

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

Severe chronic neutropenia: treatment and follow-up of patients in the Severe Chronic Neutropenia International Registry.

A randomized controlled phase III trial of recombinant human granulocyte colony-stimulating factor (filgrastim) for treatment of severe chronic neutropenia.

Congenital neutropenia.

Neutrophil elastase in cyclic and severe congenital neutropenia.

The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy

A molecular classification of congenital neutropenia syndromes.

Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.

Long-term follow-up of granulocyte colony-stimulating factor receptor mutations in patients with severe congenital neutropenia: implications for leukaemogenesis and therapy.

Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia

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210-213

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10.1111/J.1365-2141.2007.06897.X

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Peter Newburger

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5819808

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