Evidence map›Paper›PMID 36061954›Full record

ArticleMolecular genetics and metabolism reports2022

Severe spinal cord hypoplasia due to a novel

Tomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, Tomoko Tsuruoka, Yoshiteru Osone, Masaru Shimura, Makiko Tajika, Keiko Ichimoto, Yuki Naruke, Nana Akiyama and 9 more

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

Article in Molecular genetics and metabolism reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. Article
  3. Mutations in mitochondrialFrontiers in neuroscience · 2024
    Review
  4. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2023
    Article
  5. ATAD3A: A Key Regulator of Mitochondria-Associated Diseases.International journal of molecular sciences · 2023
    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

19 authors.

Tomohiro EbiharaCenter for Medical Genetics, Department of Neonatology, Chiba Children's Hospital, Chiba City, Japan.
Taro NagatomoDepartment of Neonatology, Japanese Red Cross Fukuoka Hospital, Fukuoka City, Japan.
Yohei SugiyamaCenter for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba City, Japan.
Tomoko TsuruokaCenter for Medical Genetics, Department of Neonatology, Chiba Children's Hospital, Chiba City, Japan.
Yoshiteru OsoneCenter for Neonatology, Chiba University Hospital, Chiba City, Japan.
Masaru ShimuraCenter for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba City, Japan.
Makiko TajikaCenter for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba City, Japan.
Keiko IchimotoCenter for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba City, Japan.
Yuki NarukeDepartment of Pathology, Chiba Children's Hospital, Chiba City, Japan.
Nana AkiyamaCenter for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba City, Japan.
Sze Chern LimDiagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, Japan.
Yukiko YatsukaDiagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, Japan.
Kazuhiro R NittaDiagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, Japan.
Yoshihito KishitaDiagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, Japan.
Takuya FushimiCenter for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba City, Japan.
Atsuko OkazakiDiagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, Japan.
Akira OhtakeDepartment of Pediatrics and Clinical Genomics, Saitama Medical University, Moroyama, Saitama, Japan.
Yasushi OkazakiDiagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, Japan.
Kei MurayamaCenter for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba City, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Biallelic deletions extending into the ATPase family AAA-domain containing protein 3A (

Indexed as

Apgar, an appearance, score, grimace, activity and respirationATAD3ATAD3A, ATPase family AAA-domain containing protein 3AATAD3B, ATPase family AAA-domain containing protein 3BATAD3C, ATPase family AAA-domain containing protein 3CBiallelic deletionbp, base pairsIUGR, intrauterine growth restrictionMRI, magnetic resonance imagingmtDNA, mitochondrial DNANeonatePCH, pontocerebellar hypoplasiaPCR, polymerase chain reactionRARS2, arginyl-tRNA synthetase 2, mitochondrialSLC25A46, solute carrier family 25 member 46SNVs, single nucleotide variantsSpinal cord hypoplasia

Identifiers

PMID36061954
PMCPMC9428837

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.