Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome (Q36973951)

17 August 2017

Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome (English)

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17 August 2017

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Jennifer L. Ivanovich

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Jennifer Ivanovich

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17 August 2017

Hong-Yan Du

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Rachel Idol

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Sara Robledo

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Ping An

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17 August 2017

Arturo Londono-Vallejo

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David B Wilson

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Philip J Mason

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Monica Bessler

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1 October 2007

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689-697

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describes a project that uses

17 August 2017

ImageQuant

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11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2583393/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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Short telomeres, even in the presence of telomerase, limit tissue renewal capacity

29 September 2017

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The effect of TERC haploinsufficiency on the inheritance of telomere length

29 September 2017

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Telomere length and heredity: Indications of paternal inheritance

29 September 2017

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

29 September 2017

1 reference

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Intensive inhibition of hTERT expression by a ribozyme induces rapid apoptosis of cancer cells through a telomere length-independent pathway

29 September 2017

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Dyskeratosis congenita -- a disease of dysfunctional telomere maintenance

29 September 2017

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Dyskeratosis congenita: telomerase, telomeres and anticipation

29 September 2017

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29 September 2017

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

29 September 2017

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In vivo regulation of telomerase activity and telomere length

29 September 2017

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Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia

29 September 2017

1 reference

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Telomeres and telomerase: their mechanisms of action and the effects of altering their functions

29 September 2017

1 reference

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Expression of telomerase RNA template, but not telomerase reverse transcriptase, is limiting for telomere length maintenance in vivo

29 September 2017

1 reference

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Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome

29 September 2017

1 reference

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Stem cells, telomerase and dyskeratosis congenita

29 September 2017

1 reference

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Telomere measurement by quantitative PCR

29 September 2017

1 reference

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The human telomerase gene: complete genomic sequence and analysis of tandem repeat polymorphisms in intronic regions

29 September 2017

1 reference

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Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

29 September 2017

1 reference

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

29 September 2017

1 reference

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Switching and signaling at the telomere

29 September 2017

1 reference

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The telomerase reverse transcriptase is limiting and necessary for telomerase function in vivo.

29 September 2017

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Telomere maintenance in telomerase-deficient mouse embryonic stem cells: characterization of an amplified telomeric DNA

29 September 2017

1 reference

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Disease states associated with telomerase deficiency appear earlier in mice with short telomeres

29 September 2017

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Telomere shortening and tumor formation by mouse cells lacking telomerase RNA

29 September 2017

1 reference

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hEST2, the putative human telomerase catalytic subunit gene, is up-regulated in tumor cells and during immortalization

29 September 2017

1 reference

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Telomerase catalytic subunit homologs from fission yeast and human

29 September 2017

1 reference

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Advances in quantification and characterization of telomerase activity by the telomeric repeat amplification protocol (TRAP).

29 September 2017

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Evidence for a distinct region causing a cat-like cry in patients with 5p deletions.

29 September 2017

1 reference

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Specific association of human telomerase activity with immortal cells and cancer

29 September 2017

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The RNA component of human telomerase

29 September 2017

1 reference

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The telomere terminal transferase of Tetrahymena is a ribonucleoprotein enzyme with two kinds of primer specificity

29 September 2017

1 reference

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Telomere reduction in human colorectal carcinoma and with ageing

29 September 2017

1 reference

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Telomeres shorten during ageing of human fibroblasts

29 September 2017

1 reference

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Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome

29 September 2017

1 reference

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Mutations in telomerase catalytic protein in Japanese children with aplastic anemia

27 June 2018

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

4 September 2018

1 reference

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Telomerase maintains telomere structure in normal human cells.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2583393

Dyskeratosis Congenita (DC) Registry: identification of new features of DC.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2583393

4 September 2018

Dyskeratosis congenita

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17875000

12 December 2020

inferred from PubMed ID database lookup

The natural history of Cri du Chat Syndrome. A report from the Italian Register

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17875000

12 December 2020

inferred from PubMed ID database lookup

Functional characterization of natural telomerase mutations found in patients with hematologic disorders

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17875000

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1111/J.1474-9726.2007.00324.X

1 reference

17 August 2017

1 reference

17 August 2017

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