Evidence map›Paper›PMID 27081552›Full record

ArticleHuman genome variation2015

Novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy.

Passara Jongkhajornpong, Kaevalin Lekhanont, Mayumi Ueta, Koji Kitazawa, Satoshi Kawasaki, Shigeru Kinoshita

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

Article in Human genome variation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 34% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Corneal dystrophies.Nature reviews. Disease primers · 2020
    Review
  2. Review
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 4 institutions in 2 countries.

Passara JongkhajornpongDepartment of Ophthalmology, Ramathibodi Hospital, Mahidol University , Bangkok, Thailand.
Kaevalin LekhanontDepartment of Ophthalmology, Ramathibodi Hospital, Mahidol University , Bangkok, Thailand.
Mayumi UetaDepartment of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan; Department of Frontier Medical Science and Technology for Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Koji KitazawaDepartment of Ophthalmology, Kyoto Prefectural University of Medicine , Kyoto, Japan.
Satoshi KawasakiDepartment of Ophthalmology, Osaka University , Osaka, Japan.
Shigeru KinoshitaDepartment of Frontier Medical Science and Technology for Ophthalmology, Kyoto Prefectural University of Medicine , Kyoto, Japan.
Kyoto Prefectural University of Medicine · JPMahidol University · THOsaka University · JPRamathibodi Hospital · TH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We identified a novel mutation in the tumor-associated calcium signal transducer 2 (TACSTD2) gene in a consanguineous Thai family with gelatinous drop-like corneal dystrophy (GDLD). All affected family members presented with an intense amyloid substance deposited on the cornea, which required surgical management. Genetic analysis of these individuals revealed a homozygous mutation c.79delC, in the TACSTD2 gene. Both parents of these individuals were unaffected and showed heterozygous mutations in the TACSTD2 gene. The mutation produced a truncated protein sequence that might be the cause of GDLD.

Identifiers

PMID27081552
PMCPMC4785563
OpenAlexW2416627105

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-SA
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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.