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Digenic mutations in severe congenital neutropenia
scientific article
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
2895047
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20220065%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 January 2020
title
Digenic mutations in severe congenital neutropenia
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
2895047
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20220065%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 January 2020
main subject
congenital disorder
0 references
severe congenital neutropenia
1 reference
based on heuristic
inferred from title
author
Manfred Stuhrmann
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
2895047
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20220065%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 January 2020
Marina Lanciotti
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
2895047
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20220065%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 January 2020
author name string
Manuela Germeshausen
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
2895047
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20220065%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 January 2020
Cornelia Zeidler
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
2895047
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20220065%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 January 2020
Matthias Ballmaier
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMC publication ID
2895047
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20220065%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 January 2020
Karl Welte
series ordinal
6
1 reference
stated in
Europe PubMed Central
PMC publication ID
2895047
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20220065%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 January 2020
language of work or name
English
0 references
publication date
10 March 2010
1 reference
stated in
Europe PubMed Central
PMC publication ID
2895047
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20220065%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 January 2020
published in
Haematologica
1 reference
stated in
Europe PubMed Central
PMC publication ID
2895047
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20220065%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 January 2020
volume
95
1 reference
stated in
Europe PubMed Central
PMC publication ID
2895047
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20220065%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 January 2020
issue
7
1 reference
stated in
Europe PubMed Central
PMC publication ID
2895047
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20220065%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 January 2020
page(s)
1207-1210
1 reference
stated in
Europe PubMed Central
PMC publication ID
2895047
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20220065%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 January 2020
cites work
Neutrophil elastase is severely down-regulated in severe congenital neutropenia independent of ELA2 or HAX1 mutations but dependent on LEF-1
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047
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7 April 2017
A syndrome with congenital neutropenia and mutations in G6PC3
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047
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7 April 2017
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047
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7 April 2017
LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047
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7 April 2017
Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047
retrieved
7 April 2017
The many causes of severe congenital neutropenia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047
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7 April 2017
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)
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stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047
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7 April 2017
Genetics of Hirschsprung disease
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047
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7 April 2017
A novel X-linked gene, G4.5. is responsible for Barth syndrome
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047
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7 April 2017
SIFT: Predicting amino acid changes that affect protein function
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047
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7 April 2017
Human non-synonymous SNPs: server and survey
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PubMed Central
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7 April 2017
The anti-apoptotic protein HAX-1 interacts with SERCA2 and regulates its protein levels to promote cell survival
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PubMed Central
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27 September 2017
Existence of multiple isoforms of HS1-associated protein X-1 in murine and human tissues
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27 September 2017
Aberrant subcellular targeting of the G185R neutrophil elastase mutant associated with severe congenital neutropenia induces premature apoptosis of differentiating promyelocytes.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047
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27 September 2017
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047
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27 September 2017
Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047
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28 November 2018
Identifying pathogenic genetic background of simplex or multiplex retinitis pigmentosa patients: a large scale mutation screening study.
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047
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28 November 2018
A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14.
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047
retrieved
28 November 2018
Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047
retrieved
28 November 2018
Characterization of mutant neutrophil elastase in severe congenital neutropenia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047
retrieved
28 November 2018
Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895047
retrieved
28 November 2018
Mutations in the gene encoding neutrophil elastase (ELA2) are not sufficient to cause the phenotype of congenital neutropenia
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/20220065
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/20220065
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/20220065
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/20220065
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.3324/HAEMATOL.2009.017665
1 reference
stated in
Europe PubMed Central
PMC publication ID
2895047
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20220065%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 January 2020
PMC publication ID
2895047
1 reference
stated in
Europe PubMed Central
PMC publication ID
2895047
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20220065%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 January 2020
PubMed publication ID
20220065
1 reference
stated in
Europe PubMed Central
PMC publication ID
2895047
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20220065%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 January 2020
ResearchGate publication ID
41894788
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