Digenic mutations in severe congenital neutropenia (Q24623952)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20220065%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

Digenic mutations in severe congenital neutropenia (English)

1 reference

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severe congenital neutropenia

19 January 2020

main subject

congenital disorder

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1 reference

3

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19 January 2020

Marina Lanciotti

4

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19 January 2020

author name string

Manuela Germeshausen

1

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19 January 2020

Cornelia Zeidler

2

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19 January 2020

Matthias Ballmaier

5

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19 January 2020

Karl Welte

6

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19 January 2020

language of work or name

English

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publication date

10 March 2010

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19 January 2020

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19 January 2020

volume

95

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19 January 2020

issue

7

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19 January 2020

page(s)

1207-1210

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Neutrophil elastase is severely down-regulated in severe congenital neutropenia independent of ELA2 or HAX1 mutations but dependent on LEF-1

19 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047

A syndrome with congenital neutropenia and mutations in G6PC3

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047

LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047

The many causes of severe congenital neutropenia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047

Genetics of Hirschsprung disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047

A novel X-linked gene, G4.5. is responsible for Barth syndrome

7 April 2017

1 reference

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SIFT: Predicting amino acid changes that affect protein function

7 April 2017

1 reference

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Human non-synonymous SNPs: server and survey

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047

The anti-apoptotic protein HAX-1 interacts with SERCA2 and regulates its protein levels to promote cell survival

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047

Existence of multiple isoforms of HS1-associated protein X-1 in murine and human tissues

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047

Aberrant subcellular targeting of the G185R neutrophil elastase mutant associated with severe congenital neutropenia induces premature apoptosis of differentiating promyelocytes.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047

Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047

Identifying pathogenic genetic background of simplex or multiplex retinitis pigmentosa patients: a large scale mutation screening study.

28 November 2018

1 reference

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A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047

Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047

Characterization of mutant neutrophil elastase in severe congenital neutropenia

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047

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

28 November 2018

1 reference

12 December 2020

Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response

1 reference

12 December 2020

Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?

1 reference

12 December 2020

Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations

1 reference

12 December 2020

10.3324/HAEMATOL.2009.017665

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20220065%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20220065%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

PubMed publication ID

20220065

1 reference