Evidence map›Paper›PMID 39062623›Full record

ArticleGenes2024

Deafness DFNB128 Associated with a Recessive Variant of Human

Rabia Faridi, Rizwan Yousaf, Sayaka Inagaki, Rafal Olszewski, Shoujun Gu, Robert J Morell, Elizabeth Wilson, Ying Xia, Tanveer Ahmed Qaiser, Muhammad Rashid and 4 more

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. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
–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

3 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. A Systematic Review of Genes Affecting Endocochlear Potential.Journal of the Association for Research in Otolaryngology : JARO · 2026
    Pooled it
  2. Review
  3. 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

14 authors.

Rabia FaridiLaboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health (NIH), Bethesda, MD 20892, USA.ORCID 0000-0001-7788-8755
Rizwan YousafLaboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
Sayaka InagakiLaboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health (NIH), Bethesda, MD 20892, USA.ORCID 0000-0001-9064-0762
Rafal OlszewskiAuditory Development and Restoration Program, National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
Shoujun GuAuditory Development and Restoration Program, National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
Robert J MorellGenomics and Computational Biology Core, National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health (NIH), Bethesda, MD 20892, USA.ORCID 0000-0003-1537-7356
Elizabeth WilsonLaboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health (NIH), Bethesda, MD 20892, USA.ORCID 0000-0002-0035-5341
Ying XiaDepartment of Environmental Health, College of Medicine, University of Cincinnati, Cincinnati, OH 45267, USA.
Tanveer Ahmed QaiserDepartment of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Sector G-8/3, Ravi Road, Islamabad 44000, Pakistan.
Muhammad RashidDepartment of Biotechnology, Institute of Biochemistry, Biotechnology and Bioinformatics, The Islamia University of Bahawalpur, Bahawalpur 63100, Pakistan.ORCID 0000-0002-6414-6960
Cristina Fenollar-FerrerLaboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
Michael HoaAuditory Development and Restoration Program, National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health (NIH), Bethesda, MD 20892, USA.ORCID 0000-0001-7469-2909
Sheikh RiazuddinAllama Iqbal Medical Research Center, Jinnah Burn and Reconstructive Surgery Center, University of Health Sciences, Lahore 54550, Pakistan.ORCID 0000-0001-6012-0192
Thomas B FriedmanLaboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health (NIH), Bethesda, MD 20892, USA.ORCID 0000-0003-4614-6630

Funding

Identification of Genes Causing Syndromic And Nonsyndromic Hearing ImpairmentZIADC000039 · NIDCD · NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS · PI FRIEDMAN, THOMAS · 2009 to 2025
$48.7M
Myosin XVA and Other Genes Essential for Stereocilia MorphogenesisZIADC000048 · NIDCD · NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS · PI FRIEDMAN, THOMAS · 2009 to 2025
$23.6M
Genomic and Computational Biology Support for NIDCD Intramural ResearchZICDC000086 · NIDCD · NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS · PI MORELL, ROBERT J · 2015 to 2025
$19.8M
Cellular and Molecular Pathways for Hearing Restoration in the Adult Inner EarZIADC000088 · NIDCD · NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS · PI HOA, MICHAEL · 2015 to 2025
$14.0M
Identification of Genes Causing Syndromic And Nonsyndromic Hearing ImpairmentZ01DC000039 · NIDCD · NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS · PI FRIEDMAN, THOMAS BAER · 1997 to 2008
$7.2M
SPEECH AND HEARING SCIENCEST32DC000039 · NIDCD · CUNY GRADUATE SCH AND UNIV CTR · PI SCHWARTZ, RICHARD G · 1992 to 2002
$429k
Intramural NIH HHS Z01 DC000039Intramural NIH HHS ZIC DC000086NIDCD/NIH DC000039NIDCD NIH HHS T32 DC000039
6 · The paper itself

Abstract

Deafness in vertebrates is associated with variants of hundreds of genes. Yet, many mutant genes causing rare forms of deafness remain to be discovered. A consanguineous Pakistani family segregating nonsyndromic deafness in two sibships were studied using microarrays and exome sequencing. A 1.2 Mb locus (DFNB128) on chromosome 5q11.2 encompassing six genes was identified. In one of the two sibships of this family, a novel homozygous recessive variant NM_005921.2:c.4460G>A p.(Arg1487His) in the kinase domain of

Indexed as

DeafnessGenes, RecessiveMAP Kinase Kinase Kinase 1PedigreeAnimalsConsanguinityDisease Models, AnimalExome SequencingFemaleHearing LossHumansMaleMiceMap3k1 protein, mouseMAP Kinase Kinase Kinase 1DFNB128locus heterogeneityMAP3K1RNA-SeqSNP genotyping

Identifiers

PMID39062623
PMCPMC11276321

What OpenQuestion holds

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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.