(Q35553861)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14533448%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

review article

1 reference

title

Leukemia in severe congenital neutropenia: defective proteolysis suggests new pathways to malignancy and opportunities for therapy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14533448%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

0 references

1 reference

severe congenital neutropenia

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14533448%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

6

Kimberly Meade-White

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14533448%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

author name string

Feng-Qian Li

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14533448%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Dalila Albani

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14533448%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Zhijun Duan

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14533448%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Richard E Person

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14533448%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Kathleen F Benson

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14533448%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

publication date

1 January 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14533448%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14533448%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

volume

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14533448%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14533448%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

page(s)

579-587

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14533448%20AND%20SRC:MED&resulttype=core&format=json

Infantile genetic agranulocytosis, morbus Kostmann: presentation of six cases from the original "Kostmann family" and a review

19 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Congenital dysgranulopoietic neutropenia in two siblings: clinical, ultrastructural, and in vitro bone marrow culture studies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Dominantly inherited severe congenital neutropenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Genetics, phenotype, and natural history of autosomal dominant cyclic hematopoiesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Mutation characterization and genotype-phenotype correlation in Barth syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

A new exon 9 glucose-6-phosphate dehydrogenase mutation (G6PD "Rehovot") in a Jewish Ethiopian family with variable phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

A new familial immunodeficiency disorder characterized by severe neutropenia, a defective marrow release mechanism, and hypogammaglobulinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Severe congenital neutropenia with unique features of dysgranulopoiesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Combined corticosteroid/granulocyte colony-stimulating factor (G-CSF) therapy in the treatment of severe congenital neutropenia unresponsive to G-CSF: Activated glucocorticoid receptors synergize with G-CSF signals

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Autoinhibition and activation mechanisms of the Wiskott-Aldrich syndrome protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

The granulocyte colony-stimulating factor receptor and its role in disorders of granulopoiesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Frequency of point mutations in the gene for the G-CSF receptor in patients with chronic neutropenia undergoing G-CSF therapy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

G-CSF receptor mutations in patients with severe congenital neutropenia do not abrogate Jak2 activation and stat1/stat3 translocation

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Increased granulocyte colony-stimulating factor responsiveness but normal resting granulopoiesis in mice carrying a targeted granulocyte colony-stimulating factor receptor mutation derived from a patient with severe congenital neutropenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Sustained receptor activation and hyperproliferation in response to granulocyte colony-stimulating factor (G-CSF) in mice with a severe congenital neutropenia/acute myeloid leukemia-derived mutation in the G-CSF receptor gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Management of Kostmann syndrome in the G-CSF era.

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

High incidence of significant bone loss in patients with severe congenital neutropenia (Kostmann's syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Bone mineralization and turnover in children with congenital neutropenia, and its relationship to treatment with recombinant human granulocyte‐colony stimulating factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Thickened cortical bones in congenital neutropenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Transformation of congenital neutropenia into monosomy 7 and acute nonlymphoblastic leukemia in a child treated with granulocyte colony-stimulating factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

The occurrence of Kostmann syndrome in preterm neonates

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Chronic neutropenia during childhood. A 13-year experience in a single institution

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Mutations in the gene encoding neutrophil elastase (ELA2) are not sufficient to cause the phenotype of congenital neutropenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Quantitative analysis of glucose-6-phosphate translocase gene expression in various human tissues and haematopoietic progenitor cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Granulopoietic differentiation in long-term bone marrow cultures from children with congenital neutropenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Impaired survival of bone marrow hematopoietic progenitor cells in cyclic neutropenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Mutations of the granulocyte-colony stimulating factor receptor in patients with severe congenital neutropenia are not required for transformation to acute myeloid leukaemia and may be a bystander phenomenon

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Significance of neutrophil elastase mutations versus G-CSF receptor mutations for leukemic progression of congenital neutropenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Atraumatic Clostridium septicum infection in granulocytopenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Osteoporosis in severe congenital neutropenia treated with granulocyte colony-stimulating factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Osteoporosis in severe congenital neutropenia: inherent to the disease or a sequela of G-CSF treatment?

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Time course of increasing numbers of mutations in the granulocyte colony-stimulating factor receptor gene in a patient with congenital neutropenia who developed leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Granulocyte colony-stimulating factor and congenital neutropenia--risk of leukemia?

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Granulocyte colony-stimulating factor, congenital neutropenia, and acute myeloid leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Congenital neutropenia and the risk of leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Myelodysplasia and acute myeloid leukaemia in cases of aplastic anaemia and congenital neutropenia following G-CSF administration

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

Trisomy 21 and isodicentric chromosome 21 in Kostmann syndrome following treatment with G-CSF

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FCNV-120022378

21 January 2018

Identifiers

DOI

10.1081/CNV-120022378

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14533448%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

1 reference