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The goal of this study was to improve our understanding of the central cognitive functions of spelling: orthographic long-term memory, phoneme-to-grapheme conversion, and orthographic working memory. To do so, we present a methodological innovation to support vector regression lesion-symptom mapping, which uses a deficit spectrum index to identify brain areas associated with one of each pair of spelling deficits. Using this approach, we find evidence of distinct neural substrates that are selectively associated with each of the three central spelling components, supporting a componential functional architecture of spelling.
View Article and Find Full Text PDFRNA base editing therapy cures hearing loss induced by OTOF gene mutation.
Mol Ther
December 2023
Department of Otolaryngology-Head and Neck Surgery, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200011, China; Ear Institute, Shanghai Jiaotong University School of Medicine, Shanghai 200125, China; Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai 200125, China. Electronic address:
Article Synopsis
- Otoferlin (OTOF) gene mutations are a leading cause of hearing loss, particularly affecting around 3% of prelingual deafness cases in the Spanish population due to a specific mutation (c.2485C>T).
- This study introduces an advanced RNA base editor (emxABE) delivered via a modified AAV vector, achieving nearly 100% success in targeting inner hair cells and significantly restoring auditory function in a mouse model.
- Results showed that after treatment, hearing capabilities in the mice improved to levels comparable to normal mice and maintained this level of function for at least 7 months, suggesting a promising approach not only for OTOF-related hearing loss but also for other genetic conditions caused by similar mutations
Regulates Medial Boundary Formation in the Developing Mouse Organ of Corti.
J Neurosci
July 2023
Porter Neuroscience Research Center, Laboratory of Cochlear Development, National Institute on Deafness and Other Communication Disorders, Bethesda, Maryland 20892
One of the most striking aspects of the sensory epithelium of the mammalian cochlea, the organ of Corti (OC), is the presence of precise boundaries between sensory and nonsensory cells at its medial and lateral edges. A particular example of this precision is the single row of inner hair cells (IHCs) and associated supporting cells along the medial (neural) boundary. Despite the regularity of this boundary, the developmental processes and genetic factors that contribute to its specification are poorly understood.
View Article and Find Full Text PDFThe Next Generation of Population-Based DFNB16 Carrier Screening and Diagnosis: STRC Copy-Number Variant Analysis from Genome Sequencing Data.
Clin Chem
July 2023
BGI Genomics, BGI-Shenzhen, Shenzhen 518083, China.
Background: Deafness, autosomal recessive 16 (DFNB16) is caused by compound heterozygous or homozygous variants in STRC and is the second most common form of genetic hearing loss. Due to the nearly identical sequences of STRC and the pseudogene STRCP1, analysis of this region is challenging in clinical testing.
Methods: We developed a method that accurately identifies the copy number of STRC and STRCP1 using standard short-read genome sequencing.
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