Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome (Q24532112)

2

Chengyun

Zheng

1 reference

4 November 2023

Mi Hou

3

Mi

Hou

1 reference

4 November 2023

Charlotta Lindvall

4

Charlotta

Lindvall

1 reference

4 November 2023

Ke-Jun Li

5

Ke-Jun

Li

1 reference

4 November 2023

Fredrik Erlandsson

6

Fredrik

Erlandsson

1 reference

4 November 2023

Magnus Björkholm

7

Magnus

Björkholm

1 reference

4 November 2023

Astrid Gruber

8

Astrid

Gruber

1 reference

4 November 2023

Elisabeth Blennow

9

Elisabeth

Blennow

1 reference

4 November 2023

Dawei Xu

10

Dawei

American Journal of Human Genetics

Xu

1 reference

4 November 2023

language of work or name

English

0 references

publication date

April 2003

0 references

published in

0 references

volume

72

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issue

4

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page(s)

940-8

0 references

cites work

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Mapping of the gene for the human telomerase reverse transcriptase, hTERT, to chromosome 5p15.33 by fluorescence in situ hybridization

24 March 2017

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A telomerase component is defective in the human disease dyskeratosis congenita

24 March 2017

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Extension of life-span by introduction of telomerase into normal human cells

24 March 2017

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Human telomerase contains evolutionarily conserved catalytic and structural subunits

24 March 2017

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

24 March 2017

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A biomarker that identifies senescent human cells in culture and in aging skin in vivo

24 March 2017

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Senescence mutants of Saccharomyces cerevisiae with a defect in telomere replication identify three additional EST genes.

24 March 2017

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

24 March 2017

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Increased epidermal tumors and increased skin wound healing in transgenic mice overexpressing the catalytic subunit of telomerase, mTERT, in basal keratinocytes.

24 March 2017

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Creation of human tumour cells with defined genetic elements

24 March 2017

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Telomeres shorten during ageing of human fibroblasts

24 March 2017

1 reference

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Switching and signaling at the telomere

7 April 2017

1 reference

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Telomere shortening and tumor formation by mouse cells lacking telomerase RNA

7 April 2017

1 reference

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Telomerase catalytic subunit homologs from fission yeast and human

7 April 2017

1 reference

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Telomere shortening associated with chromosome instability is arrested in immortal cells which express telomerase activity

7 April 2017

1 reference

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Telomere length predicts replicative capacity of human fibroblasts

7 April 2017

1 reference

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Constitutive telomerase expression promotes mammary carcinomas in aging mice

7 April 2017

1 reference

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Preferential maintenance of critically short telomeres in mammalian cells heterozygous for mTert.

27 September 2017

1 reference

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Haploinsufficiency of mTR results in defects in telomere elongation

27 September 2017

1 reference

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Regulation of the human telomerase reverse transcriptase gene

27 September 2017

1 reference

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Telomerase and differentiation in multicellular organisms: turn it off, turn it on, and turn it off again

27 September 2017

1 reference

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Growth study of cri du chat syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180356

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180356

Telomere dysfunction promotes non-reciprocal translocations and epithelial cancers in mice

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180356

Studies of the molecular mechanisms in the regulation of telomerase activity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180356

Dissociation among in vitro telomerase activity, telomere maintenance, and cellular immortalization

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180356

Telomere analysis by fluorescence in situ hybridization and flow cytometry

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180356

Isolation of a candidate human telomerase catalytic subunit gene, which reveals complex splicing patterns in different cell types.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180356

Three Ever Shorter Telomere (EST) genes are dispensable for in vitro yeast telomerase activity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180356

Heterogeneity in telomere length of human chromosomes.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180356

Telomere reduction in human colorectal carcinoma and with ageing

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180356

The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180356

Cri du chat syndrome: changing phenotype in older patients

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180356

Suppression of telomerase reverse transcriptase (hTERT) expression in differentiated HL-60 cells: regulatory mechanisms

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180356

Severe growth defect in mouse cells lacking the telomerase RNA component.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180356

The cri du chat syndrome in adolescents and adults: Clinical finding in 13 older patients with partial deletion of the short arm of chromosome No. 5(5p-)

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180356

Telomere length dynamics in human lymphocyte subpopulations measured by flow cytometry.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180356

Frequent amplification of the telomerase reverse transcriptase gene in human tumors

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180356

Presence of telomeric G-strand tails in the telomerase catalytic subunit TERT knockout mice

29 November 2018

1 reference

12 December 2020

hTERT gene dosage correlates with telomerase activity in human lung cancer cell lines

1 reference

12 December 2020

Amplification of the telomerase reverse transcriptase (hTERT) gene in cervical carcinomas

1 reference

12 December 2020

Fertility and the cri du chat syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1086/374565

1 reference

release_ijkud5lldbgjpfsjho342l2f2a

2421402

Fatcat ID

0 references

2421402

1 reference

1 reference

1 reference