Evidence map›Paper›PMID 35957697›Full record

ArticleFrontiers in genetics2022

Compound Heterozygous Variants of the

Junkai Tan, Liuzhi Zeng, Yun Wang, Guo Liu, Longxiang Huang, Defu Chen, Xizhen Wang, Ning Fan, Yu He, Xuyang Liu

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
1.2field-weighted citation impact, top 23% 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, 1 synthesis or guideline pooled it, 6 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. 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

10 authors at 6 institutions in 1 country.

Junkai TanXiamen Eye Center, Xiamen University, Xiamen, China.
Liuzhi ZengDepartment of Ophthalmology, Chengdu First People's Hospital, Chengdu, China.
Yun WangShenzhen Eye Hospital, Shenzhen Eye Institute, Jinan University, Shenzhen, China.
Guo LiuSichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.
Longxiang HuangDepartment of Ophthalmology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China.
Defu ChenSchool of Ophthalmology and Optometry, The Eye Hospital, Wenzhou Medical University, Wenzhou, China.
Xizhen WangShenzhen Eye Hospital, Shenzhen Eye Institute, Jinan University, Shenzhen, China.
Ning FanShenzhen Eye Hospital, Shenzhen Eye Institute, Jinan University, Shenzhen, China.
Yu HeDepartment of Ophthalmology, Chengdu First People's Hospital, Chengdu, China.
Xuyang LiuXiamen Eye Center, Xiamen University, Xiamen, China.
Jinan University · CNFirst Affiliated Hospital of Chengdu Medical College · CNXiamen University · CNAffiliated Eye Hospital of Wenzhou Medical College · CNFirst Affiliated Hospital of Fujian Medical University · CNUniversity of Electronic Science and Technology of China · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The molecular mechanisms underlying the pathogenesis of pigment dispersion syndrome and pigmentary glaucoma remain unclear. In pedigree-based studies, familial aggregation and recurrences in relatives suggest a strong genetic basis for pigmentary glaucoma. In this study, we aimed to identify the genetic background of two Chinese pedigrees with pigmentary glaucoma. All members of these two pedigrees who enrolled in the study underwent a comprehensive ophthalmologic examination, and genomic DNA was extracted from peripheral venous blood samples. Whole-exome sequencing and candidate gene verifications were performed to identify the disease-causing variants; in addition, screening of the

Indexed as

autosomal recessive inheritancecompound heterozygous variantCPAMD8pedigreepigmentary glaucoma

Identifiers

PMID35957697
PMCPMC9358689
OpenAlexW4287306931

What OpenQuestion holds

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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.