Evidence map›Paper›PMID 42461329›Full record

ArticleHuman genetics2026

Identification of a novel isoform of Slc26a4 by single-cell RNA-sequencing of pendrin-expressing cells in the cochlea.

Jin-Young Koh, Corentin Affortit, Kazuaki Homma, Satoe Takahashi, Jonathan M Nizar, Paul T Ranum, Rose Gogal, Eun-Mi Kim, Minkyung Kang, Diana L Kolbe and 9 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genetics, 2026. 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

19 authors.

Jin-Young Koh *Roy J. Carver Department of Biomedical Engineering, College of Engineering, University of Iowa, Iowa City, IA, USA.
Corentin Affortit *Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
Kazuaki HommaDepartment of Otolaryngology - Head and Neck Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
Satoe TakahashiDepartment of Otolaryngology - Head and Neck Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
Jonathan M NizarDepartment of Internal Medicine, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
Paul T RanumMolecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
Rose GogalRoy J. Carver Department of Biomedical Engineering, College of Engineering, University of Iowa, Iowa City, IA, USA.
Eun-Mi KimDepartment of Bio & Environmental Technology, College of Science and Convergence Technology, Seoul Women's University, Seoul, Republic of Korea.
Minkyung KangSillaJen Inc. , Seoul, Republic of Korea.
Diana L KolbeMolecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
Fengxiao BuMolecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
Cody WestMolecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
Donghong WangMolecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
Amanda OdellMolecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
Amy WeaverMolecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
Jori HendonMolecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
William D WallsMolecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
Michael J SchniedersRoy J. Carver Department of Biomedical Engineering, College of Engineering, University of Iowa, Iowa City, IA, USA.
Richard J H SmithRoy J. Carver Department of Biomedical Engineering, College of Engineering, University of Iowa, Iowa City, IA, USA. richard-smith@uiowa.edu.

Funding

NONSYNDROMIC HEARING LOSS--A COLLABORATIVE STUDYR01DC002842 · NIDCD · UNIVERSITY OF IOWA · PI SMITH, RICHARD J.H. · 1996 to 2024
$12.7M
Optimizing Genetic Testing for Deafness for Clinical DiagnosticsR01DC012049 · NIDCD · UNIVERSITY OF IOWA · PI TERRY A BRAUN, Thomas L. Casavant · 2011 to 2026
$8.7M
Autosomal Dominant Non-Syndromic Hearing Loss - Its Genetic Diagnosis and TreatmentR01DC017955 · NIDCD · UNIVERSITY OF IOWA · PI SMITH, RICHARD J.H. · 2019 to 2023
$2.6M
Defining the pathological mechanisms of hereditary hearing lossR01DC017482 · NIDCD · NORTHWESTERN UNIVERSITY AT CHICAGO · PI HOMMA, KAZUAKI · 2019 to 2023
$1.7M
NCATS NIH HHS DC017482NIDCD NIH HHS R01 DC002842NIDCD NIH HHS R01 DC012049NIDCD NIH HHS R01 DC017482NIDCD NIH HHS R01 DC017955NIH HHS DC017955, DC002842, DC012049
6 · The paper itself

Abstract

Pathogenic variation of SLC26A4 gene causes both Pendred syndrome (PDS) and non-syndromic enlarged vestibular aqueduct (NSEVA/DFNB4), two autosomal recessive disorders. The former accounts for approximately 6% of human genetic hearing loss, making it the second most common form of syndromic deafness after Usher syndrome, while the latter is the most common radiological malformation associated with childhood sensorineural hearing loss (SNHL). Here, we used short- and long-read single-cell RNA sequencing (scRNA-seq) of pendrin-expressing cells in the murine cochlea to identify a novel short isoform of Slc26a4. We demonstrate that the short Slc26a4 isoform is expressed in both the inner ear and kidney and investigate its interactions and functions. We also characterize the genotype-phenotype association for SLC26A4-related hearing loss in the context of these two isoforms. These results provide a new reference for molecular profiling of pendrin and offer novel insights into cell-type-specific splicing events and SLC26A4-related hearing loss.

Indexed as

CochleaGoiter, NodularHearing Loss, SensorineuralSulfate TransportersAnimalsGenetic Association StudiesHumansMiceProtein IsoformsSequence Analysis, RNASingle-Cell AnalysisSingle-Cell Gene Expression AnalysisVestibular AqueductProtein IsoformsSLC26A4 protein, humanSlc26a4 protein, mouseSulfate TransportersCochleaDFNB4Hearing lossNovel isoformsNSEVAPendred syndromescRNA-seqSLC26A4

Identifiers

PMID42461329
PMCPMC13375699

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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.