(Q34255048)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22341970%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

title

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita (English)

1 reference

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23 January 2020

10

1 reference

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23 January 2020

Koen Van Gassen

11

1 reference

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23 January 2020

Nicoline Hoogerbrugge

14

1 reference

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23 January 2020

Marjolijn J L Ligtenberg

15

object named as

Marjolijn J L Ligtenberg

1 reference

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23 January 2020

8

Rolph Pfundt

1 reference

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23 January 2020

7

Ernie M H F Bongers

1 reference

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23 January 2020

12

Ad Geurts van Kessel

1 reference

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23 January 2020

author name string

Marjolijn C J Jongmans

1

1 reference

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23 January 2020

Eugene T P Verwiel

2

1 reference

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23 January 2020

Yvonne Heijdra

3

1 reference

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23 January 2020

Tom Vulliamy

4

1 reference

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23 January 2020

Eveline J Kamping

5

1 reference

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23 January 2020

Jayne Y Hehir-Kwa

6

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23 January 2020

Liesbeth van Emst

9

1 reference

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23 January 2020

Inderjeet Dokal

13

1 reference

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23 January 2020

Roland P Kuiper

16

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23 January 2020

language of work or name

English

0 references

publication date

16 February 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22341970%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

23 January 2020

published in

1 reference

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23 January 2020

volume

90

1 reference

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23 January 2020

issue

3

1 reference

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23 January 2020

page(s)

426-433

1 reference

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Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations

23 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=3309184

Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309184

Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309184

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309184

Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309184

Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309184

Replication and protection of telomeres

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309184

Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309184

Adult-onset pulmonary fibrosis caused by mutations in telomerase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309184

Telomerase mutations in families with idiopathic pulmonary fibrosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309184

Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309184

Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309184

A DNA damage checkpoint response in telomere-initiated senescence

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309184

In vivo reversion to normal of inherited mutations in humans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309184

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309184

Back mutation can produce phenotype reversion in Bloom syndrome somatic cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309184

Ageing of lymphocytes and lymphocytes in the aged

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309184

Telomere length regulation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309184

The human telomere terminal transferase enzyme is a ribonucleoprotein that synthesizes TTAGGG repeats

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309184

A telomeric sequence in the RNA of Tetrahymena telomerase required for telomere repeat synthesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309184

Structure and function of telomeres

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309184

Cytogenetic studies of skin fibroblast cultures from a karyotypically normal female with dyskeratosis congenita.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309184

Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309184

Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309184

Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309184

Dyskeratosis congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements

28 October 2018

1 reference

12 December 2020

Fatal diffuse capillaritis after hematopoietic stem-cell transplantation for dyskeratosis congenita despite low-intensity conditioning regimen

1 reference

12 December 2020

Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation

1 reference

12 December 2020

Late death after unrelated-BMT for dyskeratosis congenita following conditioning with alemtuzumab, fludarabine and melphalan

1 reference

12 December 2020

Genomic instability inHoyeraal-Hreidarssonsyndrome

1 reference

12 December 2020

Association between aplastic anaemia and mutations in telomerase RNA

1 reference

12 December 2020

Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome

1 reference

12 December 2020

Fatal interstitial pulmonary disease in a patient with dyskeratosis congenita after allogeneic bone marrow transplantation

1 reference

12 December 2020

10.1016/J.AJHG.2012.01.004

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22341970%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22341970%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

PubMed publication ID

22341970

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22341970%20AND%20SRC:MED&resulttype=core&format=json