Evidence map›Paper›PMID 42147988›Full record

ArticleBalkan journal of medical genetics : BJMG2025

Novel Mutation of

J X Lin, X Gao, L J Hou, X Y Zhang, X Zhang, X M Liu

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Balkan journal of medical genetics : BJMG, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

6 authors.

J X LinDepartment of Neurology, Shandong Provincial Qianfoshan Hospital, Shandong University of Traditional Chinese Medicine, Jinan 250014, Shandong Province, China.
X GaoDepartment of Neurology, Shandong Provincial Third Hospital, Shandong University, Jinan 250031, People's Republic of China.
L J HouInstitute of Traditional Chinese Medicine Pharmacology, Shandong Academy of Chinese Medicine, Jinan 250014, People's Republic of China.
X Y ZhangDepartment of Neurology, the First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Jinan 250014, People's Republic of China.
X ZhangDepartment of Neurology, the First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Jinan 250014, People's Republic of China.
X M LiuDepartment of General Practice, the First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Jinan 250014, People's Republic of China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a monogenic cerebral small-vessel disease characterized by migraine, recurrent ischemic strokes, psychiatric disorder, and progressive cognitive decline. CADASIL is a cerebrovascular disease closely related to the Objective: To investigate the phenotypic features and causative gene in a Chinese patient with CADASIL. Material and Methods: This is a multi-generation family with CADASIL. The brain computed tomography (CT) and magnetic resonance imaging (MRI) were performed for the proband and other affected family members. DNA samples were screened for gene mutation by whole exome sequencing (WES), and potential pathogenic mutations were validated by Sanger sequencing. Results: One novel heterozygous frameshift mutation, c.5171_5172delCA, p. (Thr1724fs17), in the Conclusions: The novel pathogenic frameshift mutation, c.5171_5172delCA, p. (Thr1724fs17), in the

Indexed as

Cerebral autosomal dominant arteriopathy with the subcortical infarcts and leukoencephalopathyClinical manifestationsFrameshift mutationNOTCH3 gene

Identifiers

PMID42147988
PMCPMC13175647

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Registered trials

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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.