Evidence map›Paper›PMID 36846631›Full record

ArticleMolecular genetics and metabolism reports2023

A novel homozygous missense mutation in

Yasuhiro Hara, Yoshihiko Ikeda, Hayato Kimura, Shinsaku Shimamoto, Mao Ishikawa, Kunihisa Kobayashi, Hironori Nagasaka, Hisashi Shimoyama, Ken-Ichi Hirano

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
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

4 citing papers in PubMed.

  1. Case Report: a novelFrontiers in genetics · 2026
    Article
  2. Article
  3. 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

9 authors.

Yasuhiro HaraLaboratory of Novel, Non-invasive, and Nutritional Therapeutics (CNT), Department of Triglyceride Science, Graduate School of Medicine, Osaka University, 6-2-4, Furuedai, Suita, Osaka 565-0874, Japan.
Yoshihiko IkedaLaboratory of Novel, Non-invasive, and Nutritional Therapeutics (CNT), Department of Triglyceride Science, Graduate School of Medicine, Osaka University, 6-2-4, Furuedai, Suita, Osaka 565-0874, Japan.
Hayato KimuraDepartment of Pathology, Itami City Hospital, 1-100, Koyaike, Itami, Hyogo 664-8540, Japan.
Shinsaku ShimamotoDepartment of Cardiology, Itami City Hospital, 1-100, Koyaike, Itami, Hyogo 664-8540, Japan.
Mao IshikawaLaboratory of Novel, Non-invasive, and Nutritional Therapeutics (CNT), Department of Triglyceride Science, Graduate School of Medicine, Osaka University, 6-2-4, Furuedai, Suita, Osaka 565-0874, Japan.
Kunihisa KobayashiDepartment of Endocrinology and Diabetes Mellitus, Fukuoka University Chikushi Hospital, 1-1-1, Zokumyoin, Chikushino, Fukuoka 818-8502, Japan.
Hironori NagasakaDepartment of Pediatrics, Iwate Prefectural Isawa Hospital, 61, Aza Ryugababa, Mizusawa, Ohshu, Iwate 023-0864, Japan.
Hisashi ShimoyamaDepartment of Cardiology, Itami City Hospital, 1-100, Koyaike, Itami, Hyogo 664-8540, Japan.
Ken-Ichi HiranoLaboratory of Novel, Non-invasive, and Nutritional Therapeutics (CNT), Department of Triglyceride Science, Graduate School of Medicine, Osaka University, 6-2-4, Furuedai, Suita, Osaka 565-0874, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Primary triglyceride deposit cardiomyovasculopathy (P-TGCV), caused by a rare genetic mutation in

Indexed as

Adipose triglyceride lipaseATGL, adipose triglyceride lipaseBMIPP, 123I-β-idophenyl-p-pentadecanoic acidCTx, cardiac transplantationHeart failureHE, hematoxylin-eosinMutationNLSD-I, NLSD with ichthyosisNLSD-M, NLSD with myopathyNLSD, neutral lipid storage diseasePCR, polymerase chain reactionPLIN2, perilipin-2PNPLA2TGCV, triglyceride deposit cardiomyovasculopathyTriglyceride deposit cardiomyovasculopathyWR, washout rate

Identifiers

PMID36846631
PMCPMC9945797

What OpenQuestion holds

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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.