Evidence map›Paper›PMID 39981538›Full record

ArticleCase reports in ophthalmology

Novel Von Hippel-Lindau Germline Variants in Iranian Patients with Retinal Capillary Hemangioblastoma.

Fatemeh Azimi, Kowsar Bagherzadeh, Golnaz Khakpoor, Saeed Talebi, Ahad Sedaghat, Reza Mirshahi, Hengameh Kasraei, Reza Afshar Kiaee, Masood Naseripour

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

Article in Case reports in ophthalmology. 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. 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

9 authors.

Fatemeh AzimiEye Research Center, The Five Senses Institute, Rassoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
Kowsar BagherzadehEye Research Center, The Five Senses Institute, Rassoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
Golnaz KhakpoorEye Research Center, The Five Senses Institute, Rassoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
Saeed TalebiDepartments of Medical Genetics, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
Ahad SedaghatOphthalmic Oncology, Cole Eye Institute, Cleveland Clinic, Cleveland, OH, USA.
Reza MirshahiEye Research Center, The Five Senses Institute, Rassoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
Hengameh KasraeiEye Research Center, The Five Senses Institute, Rassoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
Reza Afshar KiaeeEye Research Center, The Five Senses Institute, Rassoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
Masood NaseripourEye Research Center, The Five Senses Institute, Rassoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: The aim of this study was to determine the potential genetic cause of retinal capillary hemangioblastoma (RCH) with symptoms of Von Hippel-Lindau (VHL) disease. Case Presentations: Three Iranian families (5 RCH patients) with novel variants are included in this study. The Conclusion: The structural information and computational analysis of the identified variants are predicted to induce conformational changes that limit the flexibility of protein VHL interaction interface with Elongin B/C, Elongin C/B, and Cullin-2, which are necessary for hypoxia-inducible factor 1-α binding. The genetic variants identified in Iranian patients with RCH may aid in the molecular confirmation of other patients diagnosed with VHL and their at-risk family members. These pioneering results that include detailed structural and functional analysis of a variant's effect on the VHL protein may serve as a model for future studies.

Indexed as

In silico analysisRetinal capillary hemangioblastomaVon Hippel-Lindau variants

Identifiers

PMID39981538
PMCPMC11842073

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