Evidence map›Paper›PMID 32884998›Full record

ArticleGenes & diseases2020

A novel

Jieni Zhang, Huaxiang Zhao, Wenbin Huang, Fengqi Song, Wenjie Zhong, Mengqi Zhang, Yunfan Zhang, Zhibo Zhou, Jiuxiang Lin, Feng Chen

Open access · diamondAbstract read
In one paragraph

Article in Genes & diseases, 2020. 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, top 83% 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

4 citing papers in PubMed, 4 citations in OpenAlex.

  1. Review
  2. Article
  3. Identification of RESP18 Gene Mutations Linked to Hereditary Non-Syndromic Cleft Lip and Palate in a Southern Chinese Family.Medical science monitor : international medical journal of experimental and clinical research · 2024
    Article
  4. Identification of a Novel Variant ofInternational journal of genomics · 2023
    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

10 authors at 1 institution in 1 country.

Jieni ZhangDepartment of Orthodontics, Peking University School and Hospital of Stomatology, Beijing, China.
Huaxiang ZhaoDepartment of Orthodontics, Peking University School and Hospital of Stomatology, Beijing, China.
Wenbin HuangDepartment of Orthodontics, Peking University School and Hospital of Stomatology, Beijing, China.
Fengqi SongDepartment of Orthodontics, Peking University School and Hospital of Stomatology, Beijing, China.
Wenjie ZhongDepartment of Orthodontics, Peking University School and Hospital of Stomatology, Beijing, China.
Mengqi ZhangDepartment of Orthodontics, Peking University School and Hospital of Stomatology, Beijing, China.
Yunfan ZhangDepartment of Orthodontics, Peking University School and Hospital of Stomatology, Beijing, China.
Zhibo ZhouDepartment of Oral and Maxillofacial Surgery, Peking University School and Hospital of Stomatology, Beijing, China.
Jiuxiang LinDepartment of Orthodontics, Peking University School and Hospital of Stomatology, Beijing, China.
Feng ChenCentral Laboratory, Peking University School and Hospital of Stomatology, Beijing, China.
Peking University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cleft lip and/or palate (CL/P) is a most common craniofacial birth defect which has multifactorial etiology. In our study, we aimed to discover the underlying etiological gene variation in a Chinese family diagnosed as non-syndromic CL/P (NSCL/P). The blood sample of the proband and her parents were detected by whole exome sequencing. The Mendelian inheritance pattern, allele frequency, variation location, function analysis and literature search were applied to filtrate and screen the mutation. Besides, the candidates were confirmed by Sanger sequencing. We meanwhile explored the conservative analysis and protein homology simulation. As a result, a start-lost mutation c.1A > GAtg/Gtg in the Frizzled-6 (

Indexed as

Cleft lip and/or palateFrizzled-6Hereditary pedigreeVariantWhole-exome sequencing

Identifiers

PMID32884998
PMCPMC7452514
OpenAlexW2996051344

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.