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Mutations of Telomerase Complex Genes Linked to Bone Marrow Failures

Overview of attention for article published in Journal of Nippon Medical School, January 2007
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  • Among the highest-scoring outputs from this source (#43 of 276)

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Citations

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Title
Mutations of Telomerase Complex Genes Linked to Bone Marrow Failures
Published in
Journal of Nippon Medical School, January 2007
DOI 10.1272/jnms.74.202
Pubmed ID
Authors

Hiroki Yamaguchi

Abstract

Dyskeratosis congenita (DKC) is a bone marrow failure (BMF) with characteristic physical anomalies, and is typically diagnosed in childhood. Some forms of DKC are known to be caused by mutations occurring in DKC1, telomerase RNA component (TERC), and telomerase reverse transcriptase (TERT). These genes are the main constituents of the telomerase complex that plays a role in replicating telomeres and stabilizing them against shortening. Mutations in these genes could shorten telomeres and impair the proliferative capacity of hematopoietic stem cells, eventually causing DKC. Recently, mutations in TERC and TERT have been reported in some cases of aplastic anemia (AA) and myelodysplastic syndrome (MDS). These cases are considered to be atypical forms of DKC that develop slowly in adulthood without characteristic physical anomalies. Genetic tests are essential in diagnosing this late-presenting DKC and determining the appropriate treatment. This article reviews mutations in the telomerase complex and their connections with DKC and bone marrow failures.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 20 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 20 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 5 25%
Student > Bachelor 4 20%
Professor 4 20%
Student > Ph. D. Student 1 5%
Student > Doctoral Student 1 5%
Other 2 10%
Unknown 3 15%
Readers by discipline Count As %
Agricultural and Biological Sciences 9 45%
Biochemistry, Genetics and Molecular Biology 3 15%
Medicine and Dentistry 2 10%
Social Sciences 1 5%
Unknown 5 25%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 13 April 2024.
All research outputs
#7,451,942
of 22,782,096 outputs
Outputs from Journal of Nippon Medical School
#43
of 276 outputs
Outputs of similar age
#42,161
of 156,795 outputs
Outputs of similar age from Journal of Nippon Medical School
#3
of 9 outputs
Altmetric has tracked 22,782,096 research outputs across all sources so far. This one is in the 44th percentile – i.e., 44% of other outputs scored the same or lower than it.
So far Altmetric has tracked 276 research outputs from this source. They receive a mean Attention Score of 2.2. This one has gotten more attention than average, scoring higher than 57% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 156,795 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 17th percentile – i.e., 17% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 9 others from the same source and published within six weeks on either side of this one. This one has scored higher than 6 of them.