Article in Clinical genetics, 2025. 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
–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.
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
7 authors.
Denise YanDepartment of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, USA.
M'hamed GratiDepartment of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, USA.
Rahul MittalDepartment of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, USA.
Yi-Zhou QuanDepartment of Otology and Laryngology, Harvard Medical School and Eaton-Peabody Laboratory, Massachusetts Eye and Ear Infirmary, Boston, USA.
Wan DuDepartment of Otology and Laryngology, Harvard Medical School and Eaton-Peabody Laboratory, Massachusetts Eye and Ear Infirmary, Boston, USA.
Zheng-Yi ChenDepartment of Otology and Laryngology, Harvard Medical School and Eaton-Peabody Laboratory, Massachusetts Eye and Ear Infirmary, Boston, USA.
Xue Zhong LiuDepartment of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, USA.
Funding
Molecular Genetics on Non Syndromic Hearing Loss (NSHL)R01DC005575 · NIDCD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI LIU, XUE Z · 2001 to 2024
$10.6M
Sensory disorders in COVID -19 as an early identifier and healthcare worker protectionR01DC012115 · NIDCD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI LIU, XUE Z · 2013 to 2022
$7.2M
SCGE Disease Models Studies Supplement: Development of LNP-mediated based editing to treat Leber Congenital Amaurosis (LCA) for vision restoration in mouse modelUH3TR002636 · NCATS · MASSACHUSETTS EYE AND EAR INFIRMARY · PI CHEN, ZHENG-YI, LIU, DAVID R · 2021 to 2022
$3.8M
Development of Genome Editing as Treatment for Genetic Hearing LossR01DC016875 · NIDCD · MASSACHUSETTS EYE AND EAR INFIRMARY · PI CHEN, ZHENG-YI · 2019 to 2023
$3.0M
Hair Cell DevelopmentR01DC006908 · NIDCD · MASSACHUSETTS GENERAL HOSPITAL · PI CHEN, ZHENG-YI · 2005 to 2015
$2.7M
Efficient in Vivo RNP-based Gene Editing in the Sensory Organ Inner Ear Using Bioreducible Lipid NanoparticlesUG3TR002636 · NCATS · MASSACHUSETTS EYE AND EAR INFIRMARY · PI CHEN, ZHENG-YI, LIU, DAVID R · 2018 to 2020
$2.4M
Development of human inner ear organoid platforms for human auditory/vestibular disordersR01DC022239 · NIDCD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI LIU, XUE Z · 2025 to 2025
Variants in the phosphoribosylpyrophosphate synthetase (PRPS1) gene have been shown to cause X-linked nonsyndromic hearing loss (HL) (DFNX1) in humans. A c.259G>A transition in PRPS1, which leads to p.Ala87Thr, has been demonstrated to cause HL. The aim of this study was to generate a transgenic knock-in (KI) mouse with the Prps1 missense variant p.Ala87Thr and to study its impact on the auditory phenotype. Compared to wild-type (WT) control, transgenic Prps1 KI mice started to exhibit HL at 32 kHz at 4-12 weeks of age, with HL extending to 8 and 16 kHz by 48 weeks of age. A significant decrease in the number of hair cells and spiral ganglion neuron (SGN) counts was observed at 48 weeks of age in transgenic KI mice. These traits may be associated with the Bak-dependent mitochondrial apoptosis program, which is triggered by oxidative stress and has been identified as a key mechanism of age-related HL in C57BL/6J mice. Enzymatic assay showed a significant reduction in Prps1 enzymatic activity in KI compared to WT animals. The Prps1 p.Ala87Thr KI mouse model will serve as a valuable tool for developing therapeutic strategies to mitigate HL associated with PRPS1 variants.
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.
Generation and Auditory Phenotypic Characterization of Prps1 p.Ala87Thr Mouse Knock-In Model for Human DFNX1 Deafness. · full record | OpenQuestion