BACKGROUND Human male infertility has a notable genetic component, including well-
established diagnoses such as Klinefelter syndrome, Y-chromosome microdeletions and …

ABCA4 is a member of the superfamily of ATP-binding cassette (ABC) transporters that is
preferentially localized along the rim region of rod and cone photoreceptor outer segment …

The use of biomaterials in delivering CRISPR/Cas9 for gene therapy in infectious diseases
holds tremendous potential. This innovative approach combines the advantages of …

Usher syndrome-associated retinitis pigmentosa (RP) causes progressive retinal
degeneration, which has no cure. The pathomechanism of Usher type 1B (USH1B)-RP …

At least two per thousand newborns are affected by hearing loss, with up to 40% with an
additional disability. Early identification by universal newborn hearing screening and early …

Histidyl-tRNA synthetase (HARS) ligates histidine to its cognate transfer RNA (tRNAHis).
Mutations in HARS cause the human genetic disorders Usher syndrome type 3B (USH3B) …

Usher syndrome (USH) is a rare autosomal recessive disease characterized by the
combination of hearing loss, visual impairment due to retinitis pigmentosa, and in some …

Abstract Background Inherited retinal degenerations (IRDs) are a group of rare genetic
conditions affecting retina of the eye that range in prevalence from 1 in 2000 to 1 in 4000 …

Usher syndrome (USH) is an inherited disorder characterized by sensorineural hearing loss
(SNHL), retinitis pigmentosa (RP)-related vision loss, and vestibular dysfunction. USH …

Tunicates, the sister group of vertebrates, offer a unique perspective for evolutionary
developmental studies (Evo-Devo) due to their simple anatomical organization. Moreover …