Evidence map›Paper›PMID 34285199›Full record

ArticleHuman genome variation2021

A novel LRP6 variant in a Japanese family with oligodontia.

Hiroki Goto, Masashi Kimura, Junichiro Machida, Akiko Ota, Mitsuko Nakashima, Naomi Tsuchida, Junya Adachi, Yoshihiko Aoki, Tadashi Tatematsu, Katsu Takahashi and 6 more

Open access · goldAbstract read
In one paragraph

Article in Human genome variation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.6field-weighted citation impact, top 36% 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

8 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Review
  6. NovelJournal of personalized medicine · 2022
    Article
  7. Review
  8. Synergistic Mutations ofJournal of personalized medicine · 2021
    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

16 authors at 5 institutions in 1 country.

Hiroki GotoDepartment of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University, Nagoya, Japan.
Masashi KimuraDepartment of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University, Nagoya, Japan.
Junichiro MachidaDepartment of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University, Nagoya, Japan.
Akiko OtaDepartment of Oncology, Toyota Memorial Hospital, Toyota, Japan.
Mitsuko NakashimaDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.ORCID http://orcid.org/0000-0001-7941-1774
Naomi TsuchidaDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Junya AdachiDepartment of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University, Nagoya, Japan.
Yoshihiko AokiDepartment of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University, Nagoya, Japan.
Tadashi TatematsuDepartment of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University, Nagoya, Japan.
Katsu TakahashiDentistry and Oral surgery Tazuke Kofukai, Medical Research Institute, Kitano Hospital, Osaka, Japan.
Masatoshi SanaNagoya Orthodontic Clinic, Nagoya, Japan.
Atsuo NakayamaDepartment of Cellular Pathology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan.
Shintaro SuzukiDepartment of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University, Nagoya, Japan.
Toru NagaoDepartment of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University, Nagoya, Japan.
Naomichi MatsumotoDepartment of Stem Cell and Immune Regulation, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Yoshihito TokitaDepartment of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University, Nagoya, Japan. tokita@inst-hsc.jp.ORCID http://orcid.org/0000-0001-8598-3525
Aichi Gakuin University · JPYokohama City University · JPAichi Developmental Disability Center · JPKitano Hospital · JPToyota Memorial Hospital · JP

Funding

Japan Agency for Medical Research and Development (AMED) JP17nk0101334Japan Agency for Medical Research and Development (AMED) JP20ek0109397Japan Agency for Medical Research and Development (AMED) JP21ek0109486Japan Agency for Medical Research and Development (AMED) JP21ek0109493Japan Agency for Medical Research and Development (AMED) JP21ek0109549
6 · The paper itself

Abstract

Congenital tooth agenesis is a common anomaly in human development. We performed exome sequence analysis of genomic DNA collected from Japanese patients with tooth agenesis and their relatives. We found a novel single-nucleotide insertion in the LRP6 gene, the product of which is involved in Wnt/β-catenin signaling as a coreceptor for Wnt ligands. The single-nucleotide insertion results in a premature stop codon in the extracellular region of the encoded protein.

Identifiers

PMID34285199
PMCPMC8292333
OpenAlexW3183658191

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.