Segregation of Trans Mutations in the

Mariam Alsebeyi, Abdullah Al Mutery, Mohammad Tehsil Gul, Abdelaziz Tlili

Abstract read

In one paragraph

Article in Genes, 2024. 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

4 authors.

Mariam AlsebeyiDepartment of Applied Biology, College of Sciences, University of Sharjah, Sharjah P.O. Box 27272, United Arab Emirates.

Abdullah Al MuteryDepartment of Applied Biology, College of Sciences, University of Sharjah, Sharjah P.O. Box 27272, United Arab Emirates.ORCID 0000-0001-5013-5155

Mohammad Tehsil GulDepartment of Applied Biology, College of Sciences, University of Sharjah, Sharjah P.O. Box 27272, United Arab Emirates.ORCID 0000-0002-5318-008X

Abdelaziz TliliDepartment of Applied Biology, College of Sciences, University of Sharjah, Sharjah P.O. Box 27272, United Arab Emirates.ORCID 0000-0002-8039-3013

Funding

University of Sharjah 15000

6 · The paper itself

Abstract

BACKGROUND/

objectivesHearing loss (HL) is a significant global health concern, affecting approximately 1 in every 1000 newborns, with over half of these cases attributed to genetic factors. This study focuses on identifying the genetic basis of autosomal recessive non-syndromic hearing loss (ARNSHL) in a consanguineous Emirati family.

methodsClinical exome sequencing (CES) was performed on affected members of the family, followed by Sanger sequencing to validate the findings. Specific primers were used for PCR amplification of target

resultsWe identified two heterozygous mutations in the

conclusionsThis study emphasizes the complexity of genetic factors in hearing loss, particularly in highly consanguineous populations. The identification of both nonsense and missense mutations in the

Indexed as

Cadherin Related ProteinsCadherinsHearing Loss, SensorineuralMutation, MissensePedigreeAdultChildCodon, NonsenseConsanguinityExome SequencingFemaleHeterozygoteHumansMaleMutationUnited Arab EmiratesCadherin Related ProteinsCadherinsCDH23 protein, humanCodon, Nonsenseautosomal recessiveCDH23 genehearing lossnext generation sequencing

Identifiers

PMID39596651

DOI10.3390/genes15111451

PMCPMC11593428

What OpenQuestion holds

Textmetadata

LicenceCC BY

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.