Evidence map›Paper›PMID 40881441›Full record

ArticleInternational journal of ophthalmology2025

Novel

Muhammad Ikram Ullah, Rubina Dad, Zaira Rehman, Muhammad Shakil, Abdullah Alsrhani, Ayman Ali Mohammed Alameen, Heba Bassiony Ghanem, Emad Manni, Muhammad Umer Khan, Muhammad Atif

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of ophthalmology, 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

10 authors.

Muhammad Ikram UllahDepartment of Clinical Laboratory Sciences, College of Applied Medical Sciences, Jouf University, Sakaka 72388, Saudi Arabia.
Rubina DadStructure Biology Research Centre, Human Technopole, Milan 20157, Italy.
Zaira RehmanDepartment of Pathology, Indus Hospital & Health Network, Karachi 75190, Pakistan.
Muhammad ShakilDepartment of Biochemistry, King Edward Medical University, Lahore 54600, Pakistan.
Abdullah AlsrhaniDepartment of Clinical Laboratory Sciences, College of Applied Medical Sciences, Jouf University, Sakaka 72388, Saudi Arabia.
Ayman Ali Mohammed AlameenDepartment of Clinical Laboratory Sciences, College of Applied Medical Sciences, Jouf University, Sakaka 72388, Saudi Arabia.
Heba Bassiony GhanemDepartment of Clinical Laboratory Sciences, College of Applied Medical Sciences, Jouf University, Sakaka 72388, Saudi Arabia.
Emad ManniDepartment of Clinical Laboratory Sciences, College of Applied Medical Sciences, Jouf University, Sakaka 72388, Saudi Arabia.
Muhammad Umer KhanInstitute of Molecular Biology and Biotechnology, The University of Lahore, Lahore 54000, Pakistan.
Muhammad AtifDepartment of Clinical Laboratory Sciences, College of Applied Medical Sciences, Jouf University, Sakaka 72388, Saudi Arabia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

aimTo detect and segregate causative mutations in congenital families with optic nerve hypoplasia (ONH).

methodsTwo unrelated consanguineous Pakistani families with severe ONH, showing features of micropthalmia, nystagmus, corneal opacity, and keratopathy were included. Genetic analysis was carried out by Target Panel Sequencing, and the nucleotide variant was confirmed by Sanger sequencing. In silico analyses were carried out to study the protein order-disorder functions and their effects on messenger ribonucleic acid (mRNA).

resultsTarget panel sequencing revealed that the afflicted family members carried a novel frameshift mutation (NM_145178.4; c.91del G; p.Gly31Glyfs*55) that ensued in the conservation of an amino acid residue in the bHLH domain of ATOH7 protein.

conclusionA novel

Indexed as

ATOH7 genecongenital familiesdisorder proteinnovel mutationoptic nerve hypoplasiastructural analysis

Identifiers

PMID40881441
PMCPMC12378672

What OpenQuestion holds

Textmetadata
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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.