Evidence map›Paper›PMID 36299998›Full record

ArticleHGG advances2023

A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay.

Cameron Young, Dominyka Batkovskyte, Miyuki Kitamura, Maria Shvedova, Yutaro Mihara, Jun Akiba, Wen Zhou, Anna Hammarsjö, Gen Nishimura, Shuichi Yatsuga and 2 more

Open access · goldAbstract read
In one paragraph

Article in HGG advances, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
1.4field-weighted citation impact, top 19% 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

14 citing papers in PubMed, 17 citations in OpenAlex.

  1. Article
  2. Article
  3. Research progress on blood therapy for anti-aging.Journal of advanced research · 2026
    Review
  4. From the cytosol to the inner membrane: biogenesis of the mitochondrial carrier family.Protein science : a publication of the Protein Society · 2026
    Review
  5. 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

12 authors at 6 institutions in 3 countries.

Cameron YoungEndocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
Dominyka BatkovskyteDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm 17177, Sweden.
Miyuki KitamuraDepartment of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Fukuoka 830-0011, Japan.
Maria ShvedovaEndocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
Yutaro MiharaDepartment of Pathology, Kurume University School of Medicine, Kurume, Fukuoka 830-0011, Japan.
Jun AkibaDepartment of Diagnostic Pathology, Kurume University Hospital, Kurume, Fukuoka 830-0011, Japan.
Wen ZhouEndocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
Anna HammarsjöDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm 17177, Sweden.
Gen NishimuraDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm 17177, Sweden.
Shuichi YatsugaDepartment of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Fukuoka 830-0011, Japan.
Giedre GrigelionieneDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm 17177, Sweden.
Tatsuya KobayashiEndocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
Harvard University · USKurume University · JPKarolinska Institutet · SEKarolinska University Hospital · SEKurume University Hospital · JPLinköping University · SE

Funding

Translational Imaging and Phenotyping CoreP30AR075042 · NIAMS · MASSACHUSETTS GENERAL HOSPITAL · PI MARY L BOUXSEIN, PAOLA DIVIETI PAJEVIC · 2019 to 2026
$7.4M
Role of miR-17-92 miRNAs in skeletal development and bone homeostasisR01AR056645 · NIAMS · MASSACHUSETTS GENERAL HOSPITAL · PI KOBAYASHI, TATSUYA · 2010 to 2020
$4.1M
NIAMS NIH HHS P30 AR075042NIAMS NIH HHS R01 AR056645
6 · The paper itself

Abstract

Mitochondrial diseases are a heterogeneous group of genetic disorders caused by pathogenic variants in genes encoding gene products that regulate mitochondrial function. These genes are located either in the mitochondrial or in the nuclear genome. The TOMM7 gene encodes a regulatory subunit of the translocase of outer mitochondrial membrane (TOM) complex that plays an essential role in translocation of nuclear-encoded mitochondrial proteins into mitochondria. We report an individual with a homozygous variant in

Indexed as

Mitochondrial DiseasesMitochondrial MembranesAnimalsCarrier ProteinsMiceMitochondriaMitochondrial Precursor Protein Import Complex ProteinsCarrier ProteinsMitochondrial Precursor Protein Import Complex Proteinsdevelopmental delayfatty livergrowth platelipoatrophymitochondriamouse modelskeletal dysplasiaTOMTOMM7translocase

Identifiers

PMID36299998
PMCPMC9589026
OpenAlexW4301398498

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.