Evidence map›Paper›PMID 39669601›Full record

ArticleGenetics in medicine open2024

Loss of function in

Tomoko Kawai, Shiori Kinoshita, Yuka Takayama, Eriko Ohnishi, Hiromi Kamura, Kazuaki Kojima, Hiroki Kikuchi, Miho Terao, Tohru Sugawara, Ohsuke Migita and 16 more

Abstract read
In one paragraph

Article in Genetics in medicine open, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
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

26 authors.

Tomoko KawaiDivision of Fetal Development, National Research Institute for Child Health and Development, Tokyo, Japan.
Shiori KinoshitaDepartment of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Yuka TakayamaDepartment of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Eriko OhnishiDepartment of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Hiromi KamuraDepartment of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Kazuaki KojimaDepartment of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Hiroki KikuchiDepartment of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Miho TeraoDepartment of Systems BioMedicine, National Research Institute for Child Health and Development, Tokyo, Japan.
Tohru SugawaraDepartment of Reproductive Medicine, Center for Regenerative Medicine, National Research Institute for Child Health and Development, Tokyo, Japan.
Ohsuke MigitaDepartment of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Masayo KagamiDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Tsuyoshi IsojimaDepartment of Pediatrics, Teikyo University School of Medicine, Tokyo, Japan.
Yu YamaguchiGunma Children's Medical Center, Gunma, Japan.
Keiko WakuiDepartment of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
Hirofumi OhashiDivision of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.
Kenji ShimizuDivision of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.
Seiji MizunoDepartment of Pediatrics, Central Hospital, Aichi Developmental Disability Center, Kasugai, Aichi, Japan.
Nobuhiko OkamotoDepartment of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan.
Yoshimitsu FukushimaDepartment of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
Fumio TakadaDepartment of Medical Genetics and Genomics, Kitasato University Graduate School of Medical Sciences, Kanagawa, Japan.
Kenjiro KosakiCenter for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Shuji TakadaDepartment of Systems BioMedicine, National Research Institute for Child Health and Development, Tokyo, Japan.
Hidenori AkutsuDepartment of Reproductive Medicine, Center for Regenerative Medicine, National Research Institute for Child Health and Development, Tokyo, Japan.
Kiyoe UraLaboratory of Chromatin Metabolism and Epigenetics, Department of Biology, Chiba University, Chiba, Japan.
Kazuhiko NakabayashiDepartment of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Kenichiro HataDepartment of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: Wolf-Hirschhorn syndrome (WHS), a contiguous gene syndrome caused by heterozygous deletions of the distal short arm of chromosome 4 that includes Methods: We conducted genome-wide methylation analysis of individuals with WHS or Results: Three undiagnosed cases with Conclusion: These results revealed that WHS-related DNA methylation signatures are dependent on

Indexed as

DNA methylation signatureHistone H3-lysine 36 dimethylationNSD2Peripheral blood cellsWolf-Hirschhorn syndrome

Identifiers

PMID39669601
PMCPMC11613750

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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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.