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Usher syndrome (USH) is an autosomal recessive disorder primarily responsible for deaf-blindness. Patients with subtype Usher syndrome type 1 (USH1) typically experience congenital sensorineural hearing loss, ...
This article is part of a Supplement: Volume 18 Supplement 1
The Correction to this article has been published in Orphanet Journal of Rare Diseases 2023 18:370
Alzheimer’s disease (AD) is the most common neurodegenerative disease worldwide but has no effective treatment. Amyloid beta (Aβ) protein, a primary risk factor for AD, accumulates and aggregates in the brain ...
Circling mouse (C57BL/6J-cir/cir) deleted the transmembrane inner ear (Tmie) gene is an animal model for human non-syndromic recessive deafness, DFNB6. In circling mouse, hair cells in the cochlea have degenerate...
This article is part of a Supplement: Volume 20 Supplement 1
Photoreceptors (PRs), as the most abundant and light-sensing cells of the neuroretina, are responsible for converting light into electrical signals that can be interpreted by the brain. PR degeneration, includ...
This article is part of a Supplement: Volume 27 Supplement 1
The recent symposium, RNA silencing: Mechanism, Biology and Applications, organized by Phillip D. Zamore (University of Massachusetts Medical School) and Beverly Davidson (University of Iowa), and held in Keyston...
This article is part of a Supplement: Volume 46 Supplement 2
This article is part of a Supplement: Volume 31 Supplement 1
Extracellular vesicles (EVs) have tremendous potential as nano/micron-sized drug delivery carriers. Their physical, chemical and biological characteristics distinguish them as unique carriers with specific ph...
Owing to unique facets, such as large surface area, tunable synthesis parameters, and ease of functionalization, mesoporous silica nanoparticles (MSNs) have transpired as a worthwhile platform for cancer thera...
This article is part of a Supplement: Volume 71 Supplement 1
In 1997, regional specialist training was established in Fiji, consisting of one-year Postgraduate Diplomas followed by three-year master’s degree programs in anesthesia, internal medicine, obstetrics/gynecolo...
This article is part of a Supplement: Volume 20 Supplement 1
Retinitis pigmentosa (RP) is a heterogeneous group of inherited ocular diseases that result in progressive retinal degeneration. This study aims to describe different Swept-source Optical Coherence Tomographic...
This article is part of a Supplement: Volume 25 Supplement 1
To date, no genetic analysis of inherited retinal disease (IRD) using whole-exome sequencing (WES) has been conducted in a large-scale Korean cohort. The aim of this study was to characterise the genetic profi...
Mucopolysaccharidoses comprise a set of genetic diseases marked by an enzymatic dysfunction in the degradation of glycosaminoglycans in lysosomes. There are eight clinically distinct types of mucopolysaccharid...
Patient genetic heterogeneity renders it difficult to discover disease-cause genes. Whole-exome sequencing is a powerful new strategy that can be used to this end. The purpose of the present study was to ident...