Evidence map›Paper›PMID 33055470›Full record

ArticleInternal medicine (Tokyo, Japan)2020

Observation of p.R4810K, a Polymorphism of the Mysterin Gene, the Susceptibility Gene for Moyamoya Disease, in Two Female Japanese Diabetic Patients with Familial Partial Lipodystrophy 1.

Masanori Iwanishi, Choka Azuma, Yuji Tezuka, Yukako Yamamoto, Jun Ito-Kobayashi, Miki Washiyama, Toru Kusakabe, Shingo Kikugawa

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

Article in Internal medicine (Tokyo, Japan), 2020. 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
–field-weighted citation impact, top 80% 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, 2 citations in OpenAlex.

  1. Article
  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

8 authors at 2 institutions in 1 country.

Masanori IwanishiDepartment of Diabetes and Endocrinology, Kusatsu General Hospital, Japan.
Choka AzumaDepartment of Diabetes and Endocrinology, Kusatsu General Hospital, Japan.
Yuji TezukaDepartment of Diabetes and Endocrinology, Kusatsu General Hospital, Japan.
Yukako YamamotoDepartment of Diabetes and Endocrinology, Kusatsu General Hospital, Japan.
Jun Ito-KobayashiDepartment of Diabetes and Endocrinology, Kusatsu General Hospital, Japan.
Miki WashiyamaDepartment of Diabetes and Endocrinology, Kusatsu General Hospital, Japan.
Toru KusakabeDepartment of Endocrinology, Metabolism and Hypertension, Clinical Research Institute, National Hospital Organization Kyoto Medical Center, Japan.
Shingo KikugawaDNA Chip Research Inc., Japan.
DNA Chip Research (Japan) · JPKyoto Medical Center · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mysterin, which was recently shown to play an important role in maintaining cellular fat storage, has been identified to be the susceptibility gene for moyamoya disease (MMD). We encountered some female Japanese patients with partial lipodystrophy and MMD-like vascular lesions. This prompted us to examine whether mysterin variants may be present in these patients. We identified a mysterin variant, p.R4810K in two patients with MMD-like vascular lesions, who may fit the category of familial partial lipodystrophy (FPLD) 1. Our cases suggest the possibility that p.R4810K, in addition to atherogenic risk factors, might thus play a role in the development of atherosclerotic lesions in patients with FPLD1 and p.R4810K.

Indexed as

Polymorphism, GeneticAdenosine TriphosphatasesAgedArmAtherosclerosisBody Fat DistributionBrainDiabetes Mellitus, Type 2Exome SequencingFemaleGenetic Predisposition to DiseaseHumansJapanLipodystrophy, Familial PartialMagnetic Resonance ImagingMiddle AgedAdenosine TriphosphatasesRNF213 protein, humanUbiquitin-Protein Ligasesfamilial partial lipodystrophy 1moyamoya diseasemysterinmysterin mutationpartial lipodystrophyp.R4810 K

Identifiers

PMID33055470
PMCPMC7662064
OpenAlexW3093146450

What OpenQuestion holds

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Registered trials

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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.