Evidence map›Paper›PMID 42633037›Full record

ArticleHuman mutation2026

A Study on the Clinical Phenotypes and Genetic Analysis of

Yujing Gong, Tingmin Zhou, Xinru Fu, Yiyi Jiang, Danping Wang, Chuangjie Gu, Ruiting Wu, Dan Wang, Chang Yu

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

9 authors.

Yujing GongSpecial Examination Department, The Affiliated Women and Children's Hospital of Jiaxing University, Jiaxing, Zhejiang, China.
Tingmin ZhouDepartment of Pediatrics, Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University, Linhai, Zhejiang, China, wmu.edu.cn.
Xinru FuDepartment of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China, wzhospital.cn.
Yiyi JiangDepartment of Radiography, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China, wzhospital.cn.
Danping WangDepartment of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China, wzhospital.cn.
Chuangjie GuDepartment of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China, wzhospital.cn.
Ruiting WuDepartment of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China, wzhospital.cn.
Dan WangDepartment of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China, wzhospital.cn.ORCID https://orcid.org/0000-0003-2970-8400
Chang YuInterventional Radiology Department, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China, wzhospital.cn.ORCID https://orcid.org/0009-0005-4006-9808

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder primarily caused by pathogenic variants in the Methods: Clinical evaluations, whole exome sequencing (WES), and Sanger sequencing were performed on the probands and their family members from Families 1 to 4. Bioinformatics programs were utilized to assess the pathogenicity of the candidate variants. Additionally, an in vitro minigene assay was conducted to examine the impact of the variant in Family 2 on RNA splicing, and Western blot was employed to validate the impact of the variant on protein expression and modification. Results: Four Conclusion: The splice-site variant c.1428 + 2 T > C caused aberrant ENG mRNA splicing, leading to exon 11 skipping and producing a shorter protein with abnormal glycosylation (p.Lys438_Gln476del). The variants identified in Families 1, 3, and 4 (c.613delC, c.1498dupC, and c.322delG) are all frameshift variants that lead to premature termination of translation. This study expands the spectrum of

Indexed as

EndoglinGenetic Association StudiesMutationPhenotypeTelangiectasia, Hereditary HemorrhagicAdultExome SequencingFemaleGenetic Predisposition to DiseaseGenetic TestingHumansMaleMiddle AgedPedigreePulmonary VeinsRNA SplicingEndoglinENG protein, humanENG genefunctional analysishereditary hemorrhagic telangiectasiapulmonary arteriovenous malformation

Identifiers

PMID42633037
PMCPMC13498851

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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.