(Q33749664)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24753537%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

title

Inherited biallelic CSF3R mutations in severe congenital neutropenia (English)

1 reference

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15 March 2020

0 references

3

1 reference

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15 March 2020

José Luis Dapena Diaz

6

1 reference

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15 March 2020

Daniel Kotlarz

11

1 reference

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15 March 2020

10

Alejandro A Schäffer

1 reference

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15 March 2020

8

Jacek Puchałka

1 reference

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15 March 2020

author name string

Alexa Triot

1

1 reference

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15 March 2020

Päivi M Järvinen

2

1 reference

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15 March 2020

Dhaarini Murugan

4

1 reference

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15 March 2020

Naschla Kohistani

5

1 reference

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15 March 2020

Tomas Racek

7

1 reference

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15 March 2020

E Michael Gertz

9

1 reference

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15 March 2020

Dietmar Pfeifer

12

1 reference

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15 March 2020

Cristina Díaz de Heredia Rubio

13

1 reference

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15 March 2020

Mehmet Akif Ozdemir

14

1 reference

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15 March 2020

Turkan Patiroglu

15

1 reference

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15 March 2020

Musa Karakukcu

16

1 reference

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15 March 2020

José Sánchez de Toledo Codina

17

1 reference

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15 March 2020

Jordi Yagüe

18

1 reference

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15 March 2020

Ivo P Touw

19

1 reference

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15 March 2020

Ekrem Unal

20

1 reference

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15 March 2020

Christoph Klein

21

1 reference

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15 March 2020

language of work or name

English

0 references

publication date

21 April 2014

1 reference

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15 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24753537%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

volume

123

1 reference

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15 March 2020

issue

24

1 reference

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15 March 2020

page(s)

3811-3817

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24753537%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

15 March 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4055927/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

1 reference

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A congenital neutrophil defect syndrome associated with mutations in VPS45.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055927

Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055927

NIH Image to ImageJ: 25 years of image analysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055927

The WSXWS motif in cytokine receptors is a molecular switch involved in receptor activation: insight from structures of the prolactin receptor

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055927

Genetic defects in severe congenital neutropenia: emerging insights into life and death of human neutrophil granulocytes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055927

A method and server for predicting damaging missense mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055927

Granulocyte colony-stimulating factor receptor: stimulating granulopoiesis and much more.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055927

An activating mutation in the CSF3R gene induces a hereditary chronic neutrophilia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055927

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055927

Automated comparative protein structure modeling with SWISS-MODEL and Swiss-PdbViewer: a historical perspective.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055927

A syndrome with congenital neutropenia and mutations in G6PC3

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055927

Crystal structure of a prolactin receptor antagonist bound to the extracellular domain of the prolactin receptor

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055927

Granulocyte colony-stimulating factor: molecular mechanisms of action during steady state and 'emergency' hematopoiesis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055927

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055927

The role of the granulocyte colony-stimulating factor receptor (G-CSF-R) in disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055927

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055927

Homodimeric cross-over structure of the human granulocyte colony-stimulating factor (GCSF) receptor signaling complex

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055927

Deletional Mutation of the External Domain of the Human Granulocyte Colony-Stimulating Factor Receptor in a Patient With Severe Chronic Neutropenia Refractory to Granulocyte Colony-Stimulating Factor

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055927

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055927

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055927

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055927

Novel point mutation in the extracellular domain of the granulocyte colony-stimulating factor (G-CSF) receptor in a case of severe congenital neutropenia hyporesponsive to G-CSF treatment.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055927

N-glycosylation of the prolactin receptor is not required for activation of gene transcription but is crucial for its cell surface targeting

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055927

Saturation mutagenesis of the WSXWS motif of the erythropoietin receptor.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055927

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055927

The functional form of the erythropoietin receptor is a 78-kDa protein: correlation with cell surface expression, endocytosis, and phosphorylation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055927

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055927

Mice lacking granulocyte colony-stimulating factor have chronic neutropenia, granulocyte and macrophage progenitor cell deficiency, and impaired neutrophil mobilization

21 June 2018

1 reference

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Identification of a nonsense mutation in the granulocyte-colony-stimulating factor receptor in severe congenital neutropenia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055927

Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: Results of a long-term survey.

21 June 2018

1 reference

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Novel mechanism of G-CSF refractoriness in patients with severe congenital neutropenia.

30 October 2018

1 reference

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Coexpression of G-CSF with an unglycosylated G-CSF receptor mutant results in secretion of a stable complex.

30 October 2018

1 reference

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Interleukin-6 and the granulocyte colony-stimulating factor receptor are major independent regulators of granulopoiesis in vivo but are not required for lineage commitment or terminal differentiation.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055927

Effects of in vivo recombinant methionyl human granulocyte colony-stimulating factor on the neutrophil response and peripheral blood colony-forming cells in healthy young and elderly adult volunteers

30 October 2018

1 reference

12 December 2020

Impaired production and increased apoptosis of neutrophils in granulocyte colony-stimulating factor receptor-deficient mice

1 reference

12 December 2020

Clinical relevance of point mutations in the cytoplasmic domain of the granulocyte colony-stimulating factor receptor gene in patients with severe congenital neutropenia

1 reference

12 December 2020

Sequential gain of mutations in severe congenital neutropenia progressing to acute myeloid leukemia

1 reference

12 December 2020

10.1182/BLOOD-2013-11-535419

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24753537%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24753537%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

PubMed publication ID

24753537

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24753537%20AND%20SRC:MED&resulttype=core&format=json