Evidence map›Paper›PMID 26351433›Full record

ArticleCase reports in dermatology

Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita.

Benjaporn Panichareon, Thanawat Seedapan, Wanna Thongnoppakhun, Chanin Limwongse, Manop Pithukpakorn, Thawornchai Limjindaporn

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Case reports in dermatology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.8field-weighted citation impact, top 28% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 10 citations in OpenAlex.

  1. Clonal Signatures of Telomere Biology Disorders.Current hematologic malignancy reports · 2026
    Review
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  5. The age of heterozygousWellcome open research · 2017
    Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 1 institution in 1 country.

Benjaporn PanichareonDepartment of Anatomy, Department of Research and Development, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Thanawat SeedapanDepartment of Anatomy, Department of Research and Development, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Wanna ThongnoppakhunDivision of Molecular Genetics, Department of Research and Development, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Chanin LimwongseDivision of Molecular Genetics, Department of Research and Development, Siriraj Hospital, Mahidol University, Bangkok, Thailand ; Division of Medical Genetics, Department of Medicine, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Manop PithukpakornDivision of Molecular Genetics, Department of Research and Development, Siriraj Hospital, Mahidol University, Bangkok, Thailand ; Division of Medical Genetics, Department of Medicine, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Thawornchai LimjindapornDepartment of Anatomy, Department of Research and Development, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Mahidol University · TH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Dyskeratosis congenita (DKC) is a rare inherited disease that is characterized by abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. DKC is caused by an abnormality in a component of the telomerase and shelterin complexes. TINF2 encodes a protein in the shelterin complex and TERC encodes a component of the telomerase complex. Mutations of both genes have been associated with DKC. This study examined mutations in TINF2.

Indexed as

Direct sequencingDyskeratosis congenitaTINF2 · Mutation

Identifiers

PMID26351433
PMCPMC4560313
OpenAlexW1940914304

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.