Results 1 to 10 of about 7,338 (161)
Early disruption of photoreceptor cell architecture and loss of vision in a humanized pig model of usher syndromes [PDF]
EMBO Molecular Medicine, 2022 Usher syndrome (USH) is the most common form of monogenic deaf‐blindness. Loss of vision is untreatable and there are no suitable animal models for testing therapeutic strategies of the ocular constituent of USH, so far.
Sophia Grotz +39 more
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Elongation factor 1 alpha1 and genes associated with Usher syndromes are downstream targets of GBX2. [PDF]
PLoS ONE, 2012 Gbx2 encodes a DNA-binding transcription factor that plays pivotal roles during embryogenesis. Gain-and loss-of-function studies in several vertebrate species have demonstrated a requirement for Gbx2 in development of the anterior hindbrain, spinal cord,
David A Roeseler +7 more
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Syndromic Retinitis Pigmentosa: A Narrative Review [PDF]
VisionRetinitis pigmentosa (RP) encompasses inherited retinal dystrophies, appearing either as an isolated eye condition or as part of a broader systemic syndrome, known as syndromic RP.
Márta Janáky, Gábor Braunitzer
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Audiology Research, 2022 Usher syndrome (USH) is the most common genetic condition responsible for combined loss of hearing and vision. Balance disorders and bilateral vestibular areflexia are also observed in some cases. The syndrome was first described by Albrecht von Graefe in 1858, but later named by Charles Usher, who presented a large number of cases with hearing loss ...
Alessandro Castiglione, Claes Möller
openaire +4 more sources
Vision loss and psychopathology
The Pan-American Journal of Ophthalmology, 2021 Purpose: By examining associations between vision loss and various types of psychopathology within the literature, this manuscript will provide ophthalmologists, psychiatrists, and psychologists insight into the relationships between vision and ...
John R Mark +3 more
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Ocular Manifestations in Patients with Sensorineural Hearing Loss
Journal of Ophthalmic & Vision Research, 2022 Identification of ocular manifestations in patients with sensorineural hearing loss (SNHL) can have a large impact on the outcome and treatment of pediatric patients.
Haniah A. Zaheer +4 more
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Mental health in UK Biobank - development, implementation and results from an online questionnaire completed by 157 366 participants: a reanalysis [PDF]
, 2020 Background UK Biobank is a well-characterised cohort of over 500 000 participants including genetics, environmental data and imaging. An online mental health questionnaire was designed for UK Biobank participants to expand its potential.
Adams, M. +20 more
core +8 more sources
Allelic hierarchy for USH2A influences auditory and visual phenotypes in South Korean patients
Scientific Reports, 2023 When medical genetic syndromes are influenced by allelic hierarchies, mutant alleles have distinct effects on clinical phenotypes. Genotype–phenotype correlations for Usher syndrome type 2 (USH2) suggest that the USH2A gene exhibits an allelic hierarchy.
Dong Woo Nam +10 more
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Frontiers in Genetics, 2022 Background: Congenital deafness could be the first manifestation of a syndrome such as in Usher, Pendred, and Wolfram syndromes. Therefore, a genetic study is crucial in this deficiency to significantly improve its diagnostic efficiency, to predict the ...
Laura Alías +16 more
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Application of wavelet transform for PDZ domain classification. [PDF]
PLoS ONE, 2015 PDZ domains have been identified as part of an array of signaling proteins that are often unrelated, except for the well-conserved structural PDZ domain they contain.
Khaled Daqrouq +3 more
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