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CTC1 Mutations in a patient with dyskeratosis congenita.
scientific article
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
3374040
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22532422%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 January 2020
title
CTC1 Mutations in a patient with dyskeratosis congenita
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
3374040
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22532422%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 January 2020
main subject
patient
1 reference
based on heuristic
inferred from title
author
Rachel B. Keller
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
3374040
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22532422%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 January 2020
author name string
Katelyn E Gagne
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
3374040
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22532422%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 January 2020
G Naheed Usmani
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
3374040
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22532422%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 January 2020
George K Asdourian
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
3374040
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22532422%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 January 2020
David A Williams
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMC publication ID
3374040
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22532422%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 January 2020
Inga Hofmann
series ordinal
6
1 reference
stated in
Europe PubMed Central
PMC publication ID
3374040
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22532422%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 January 2020
Suneet Agarwal
series ordinal
7
1 reference
stated in
Europe PubMed Central
PMC publication ID
3374040
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22532422%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 January 2020
publication date
24 April 2012
1 reference
stated in
Europe PubMed Central
PMC publication ID
3374040
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22532422%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 January 2020
published in
Pediatric Blood Cancer
1 reference
stated in
Europe PubMed Central
PMC publication ID
3374040
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22532422%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 January 2020
volume
59
1 reference
stated in
Europe PubMed Central
PMC publication ID
3374040
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22532422%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 January 2020
issue
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
3374040
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22532422%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 January 2020
page(s)
311-314
1 reference
stated in
Europe PubMed Central
PMC publication ID
3374040
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22532422%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 January 2020
cites work
Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts
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=3374040
retrieved
2 October 2017
The genetics of dyskeratosis congenita
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=3374040
retrieved
2 October 2017
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
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=3374040
retrieved
2 October 2017
Clinical utility gene card for: dyskeratosis congenita
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=3374040
retrieved
2 October 2017
Telomere diseases
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=3374040
retrieved
2 October 2017
Conserved telomere maintenance component 1 interacts with STN1 and maintains chromosome ends in higher eukaryotes
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=3374040
retrieved
2 October 2017
RPA-like mammalian Ctc1-Stn1-Ten1 complex binds to single-stranded DNA and protects telomeres independently of the Pot1 pathway
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=3374040
retrieved
2 October 2017
TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita
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=3374040
retrieved
2 October 2017
Dyskeratosis congenita: a genetic disorder of many faces
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=3374040
retrieved
2 October 2017
Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita
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=3374040
retrieved
2 October 2017
Flow cytometry and FISH to measure the average length of telomeres (flow FISH).
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=3374040
retrieved
2 October 2017
Dyskeratosis congenita -- a disease of dysfunctional telomere maintenance
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=3374040
retrieved
2 October 2017
Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument.
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=3374040
retrieved
2 October 2017
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1
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=3374040
retrieved
2 October 2017
Human skin fibroblasts in vitro differentiate along a terminal cell lineage
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=3374040
retrieved
2 October 2017
Connecting complex disorders through biology.
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=3374040
retrieved
23 September 2018
Dyskeratosis congenita
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=3374040
retrieved
21 October 2018
Dyskeratosis congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22532422
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1002/PBC.24193
1 reference
stated in
Europe PubMed Central
PMC publication ID
3374040
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22532422%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 January 2020
PMC publication ID
3374040
1 reference
stated in
Europe PubMed Central
PMC publication ID
3374040
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22532422%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 January 2020
PubMed publication ID
22532422
1 reference
stated in
Europe PubMed Central
PMC publication ID
3374040
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22532422%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 January 2020
ResearchGate publication ID
224836084
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