Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene
@article{Abdelkader2018SevereRD, title={Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene}, author={Ehab Abdelkader and Lama Enani and Patrik Schatz and Leen Abu Safieh}, journal={Saudi Journal of Ophthalmology}, year={2018}, volume={32}, pages={119 - 125} }
7 Citations
Identification of novel PROM1 mutations responsible for autosomal recessive maculopathy with rod-cone dystrophy
- Medicine, BiologyGraefe's Archive for Clinical and Experimental Ophthalmology
- 2018
The findings have identified two novel deleterious mutations in PROM1 gene that are associated with hereditary macular and rod-cone dystrophy in human.
MITF Is Mutated in Type 1 Waardenburg Syndrome With Unusual Phenotype
- MedicineOtology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
- 2020
The study showed the new genotype–phenotype correlations of MITF to WS type 1, and hearing thresholds showed substantial improvements following cochlear implantation with a pure-tone average of 30 dB in free-field conditions.
Genetic Epidemiology of Hearing Loss in the 22 Arab Countries: A Systematic Review.
- MedicineOtology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
- 2019
There appears to be a distinctive clinical picture for Arab patients with HHL, and the range and distribution of variants among Arab patients differ from those noted in other affected ethnic groups.
Usher syndrome—the most common reason for deaf-blindness
- MedicineScripta Scientifica Medica
- 2021
In summary, USH can be a multisensory impairment associated with hearing impairment, progressive retinal degeneration, and retinal dysfunction, and management of these patients requires interdisciplinary approach and collaboration.
Loss of Motor Protein MYO1C Causes Rhodopsin Mislocalization and Results in Impaired Visual Function
- BiologyCells
- 2021
It is demonstrated that systemic loss of the unconventional myosin MYO1C in mice, specifically causes rhodopsin mislocalization, leading to impaired visual function, and is important for rhodopin localization to the photoreceptor OS, and for normal visual function.
Motor Protein MYO1C is Critical for Photoreceptor Opsin Trafficking and Visual Function
- BiologybioRxiv
- 2020
It is demonstrated that systemic loss of the unconventional myosin MYO1C in mice specifically affected opsin trafficking, leading to loss of visual function, and Myo1c knockout mice showed a progressive loss of photoreceptor function.
Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population
- Biology, PsychologyJournal of advanced research
- 2021
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