Evidence map›Paper›PMID 35693420›Full record

ArticleMolecular vision2022

Novel

Evangelia S Panagiotou, Narcis Fernandez-Fuentes, Layal Abi Farraj, Martin McKibbin, Nursel H Elçioglu, Hussain Jafri, Eren Cerman, David A Parry, Clare V Logan, Colin A Johnson and 3 more

Open access · greenAbstract read
In one paragraph

Article in Molecular vision, 2022. 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
0.7field-weighted citation impact, top 25% 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

1 citing paper in PubMed, 4 citations in OpenAlex.

  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

13 authors at 4 institutions in 3 countries.

Evangelia S PanagiotouDivision of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom.
Narcis Fernandez-FuentesInstitute of Biological, Environmental & Rural Sciences, Aberystwyth University, United Kingdom.
Layal Abi FarrajDivision of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom.
Martin McKibbinDivision of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom.
Nursel H ElçiogluDepartment of Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey.
Hussain JafriFatima Jinnah Medical University, Lahore, Pakistan.
Eren CermanDepartment of Ophthalmology, Marmara University Medical School, Istanbul, Turkey.
David A ParryDivision of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom.
Clare V LoganDivision of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom.
Colin A JohnsonDivision of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom.
Chris F InglehearnDivision of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom.
Carmel ToomesDivision of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom.
Manir AliDivision of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom.
Marmara University · TRFatima Jinnah Medical University · PKInstitute of Biological, Environmental and Rural Sciences · GBSt James's University Hospital · GB

Funding

Biotechnology and Biological Sciences Research Council BBS/E/W/0012843D
6 · The paper itself

Abstract

Purpose: To investigate the molecular basis of recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia in two consanguineous families. Methods: Conventional autozygosity mapping was performed using single nucleotide polymorphism (SNP) microarrays. Whole-exome sequencing was completed on genomic DNA from one affected member of each family. Exome sequence data were also used for homozygosity mapping and copy number variation analysis. PCR and Sanger sequencing were used to confirm the identification of mutations and to screen further patients. Evolutionary conservation of protein sequences was assessed using CLUSTALW, and protein structures were modeled using PyMol. Results: In family MEP68, a novel homozygous nucleotide substitution in Conclusions: Our findings expand the mutation spectrum in this form of inherited eye disease and confirm that homozygous human

Indexed as

CataractColobomaCorneal DiseasesEye AbnormalitiesMicrophthalmosDNADNA Copy Number VariationsDNA Mutational AnalysisHomeodomain ProteinsHumansMutationPedigreePhenotypeTrans-ActivatorsDNAHomeodomain ProteinsSIX6 protein, humanTrans-Activators

Identifiers

PMID35693420
PMCPMC9122475
OpenAlexW4285742004

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.