ArticleGenes2020
Mouse Models of Human Pathogenic Variants of
Open access · goldAbstract read
In one paragraph
Article in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
0.8field-weighted citation impact, top 28% of its field
What it found
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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.
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.
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Who cites it
12 citing papers in PubMed, 18 citations in OpenAlex.
- Optimizing gRNA selection for high-penetrance F0 CRISPR screening for interrogating disease gene function.Nucleic acids research · 2025Article
- Interaction between the TBC1D24 TLDc domain and the KIBRA C2 domain is disrupted by two epilepsy-associated TBC1D24 missense variants.The Journal of biological chemistry · 2024Article
- Dynamic Molecular Markers of Otosclerosis in the Human Cochlea.The Annals of otology, rhinology, and laryngology · 2024Article
- Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss.Scientific reports · 2024Article
- Genetic Links to Episodic Movement Disorders: Current Insights.The application of clinical genetics · 2023Review
- Shared and organ-specific gene-expression programs during the development of the cochlea and the superior olivary complex.RNA biology · 2023Article
- Emerging complexities of the mouse as a model for human hearing loss.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Genetics of Hearing Impairment.Genes · 2022Article
- Deafness-in-a-dish: modeling hereditary deafness with inner ear organoids.Human genetics · 2022Review
- Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.Human genetics · 2022Review
- Molecular genetic landscape of hereditary hearing loss in Pakistan.Human genetics · 2022Review
- TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss.Scientific reports · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 7 institutions in 2 countries.
Risa TonaLaboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, Porter Neuroscience Research Center, National Institutes of Health, Bethesda, MD 20892, USA.
Ivan A LopezThe NIDCD National Temporal Laboratory at UCLA, Department of Head and Neck Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA.
Cristina Fenollar-FerrerLaboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, Porter Neuroscience Research Center, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0003-4953-8891
Rabia FaridiLaboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, Porter Neuroscience Research Center, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0001-7788-8755
Claudio AnselmiResearch Center for Genetic Medicine, Children's National Hospital, Washington, DC 20010, USA.ORCID 0000-0002-3017-5085
Asma A KhanNational Centre of Excellence in Molecular Biology, University of the Punjab Lahore, Lahore 53700, Pakistan.
Mohsin ShahzadDepartment of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad 44080, Pakistan.ORCID 0000-0003-1537-3195
Robert J MorellGenomics and Computational Biology Core, National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD 20892, USA.ORCID 0000-0003-1537-7356
Shoujun GuAuditory Development and Restoration Program, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA.
Michael HoaAuditory Development and Restoration Program, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA.
Lijin DongGenetic Engineering Core, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Akira IshiyamaThe NIDCD National Temporal Laboratory at UCLA, Department of Head and Neck Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA.
Inna A BelyantsevaLaboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, Porter Neuroscience Research Center, National Institutes of Health, Bethesda, MD 20892, USA.
Sheikh RiazuddinDepartment of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad 44080, Pakistan.ORCID 0000-0001-6012-0192
Thomas B FriedmanLaboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, Porter Neuroscience Research Center, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0003-4614-6630
National Institutes of Health · USUniversity of California, Los Angeles · USChildren's National · USJinnah Postgraduate Medical Center · PKNational Institute on Deafness and Other Communication Disorders · USShaheed Zulfiqar Ali Bhutto Institute of Science and Technology · PKUniversity of the Punjab · PK
Funding
The Human Temporal Bone Laboratory Resource for Basic and Applied Inner Ear SciencesU24DC015910 · NIDCD · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ISHIYAMA, AKIRA · 2017 to 2022
$4.2MNIDCD NIH HHS U24 DC015910
Abstract
Human pathogenic variants of
Indexed as
Disease Models, AnimalMutationAnimalsChild, PreschoolDeafnessFemaleGTPase-Activating ProteinsHumansInfantMaleMiceSpasms, InfantileGTPase-Activating ProteinsTBC1D24 protein, humanTbc1d24 protein, mouseDFNA65DFNB86DOORShearing losshuman temporal bonesyndromic deafnessTbc1d24 mouse models
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390
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.