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Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 13480 - 15
Usher syndrome type III (USH3) characterized by progressive loss of vision and hearing is caused by mutations in the clarin-1 gene (CLRN1). Clrn1 knockout (KO)... 
CAUSATIVE GENE | VESTIBULAR FUNCTION | INNER-EAR | GENE DELIVERY | MULTIDISCIPLINARY SCIENCES | MOUSE MODEL | SYNDROME TYPE-3 | CLARIN-1 | CELL FATE | MESSENGER-RNA LOCALIZATION | TRANSLATIONAL CONTROL | Hearing | Hypotheses | Transfection | Preservation | Hair cells | Cytology | Cochlea | Regulatory sequences | Hearing protection | Hearing impairment | Gene therapy | Hearing loss | Index Medicus
Journal Article
Current Eye Research, ISSN 0271-3683, 10/2018, Volume 43, Issue 10, pp. 1295 - 1301
Purpose: The aim of this study is to report on the results of color vision testing in a European cohort of patients with Usher syndrome (USH). We describe the... 
visual acuity | retinal dystrophy | Usher syndrome | color vision | VISUAL-ACUITY | OPTICAL COHERENCE TOMOGRAPHY | RETINAL DISEASE | FOVEAL LESIONS | PROTEIN NETWORK | SYNDROME TYPE-III | CLARIN-1 GENE | MOLECULAR LINKS | OPHTHALMOLOGY | SYNDROME TYPE-1 | RETINITIS-PIGMENTOSA
Journal Article
Molecular Therapy - Methods & Clinical Development, ISSN 2329-0501, 06/2019, Volume 13, pp. 1 - 13
Hereditary hearing loss often results from mutation of genes expressed by cochlear hair cells. Gene addition using AAV vectors has shown some efficacy in mouse... 
hair cells | gene delivery | cochlea | non-human primate | hereditary deafness | AAV | inner ear | adeno-associated virus vector | MEDICINE, RESEARCH & EXPERIMENTAL | AAV VECTOR | CLARIN-1 | DELIVERY
Journal Article
Journal of Neuroscience, ISSN 0270-6474, 07/2015, Volume 35, Issue 28, pp. 10188 - 10201
Journal Article
Journal of Neuroscience, ISSN 0270-6474, 07/2012, Volume 32, Issue 28, pp. 9485 - 9498
Mutation in the clarin-1 gene (Clrn1) results in loss of hearing and vision in humans(Usher syndrome III), but the role of clarin-1 in the sensory hair cells... 
PROTOCADHERIN-15 | LOCALIZATION | AMES WALTZER MICE | SENSORY TRANSDUCTION | STEREOCILIA | MYOSIN VIIA | MUTATIONS | NEUROSCIENCES | SYNAPTIC RIBBONS | MOUSE COCHLEA | INNER | Psychoacoustics | Membrane Potentials - genetics | Age Factors | Humans | Mechanoreceptors - physiology | Green Fluorescent Proteins - genetics | Synapses - pathology | DNA-Binding Proteins - metabolism | Membrane Proteins - deficiency | Microscopy, Electron, Scanning - methods | Transfection | Hair Cells, Auditory - physiology | Usher Syndromes - genetics | Biophysical Phenomena - genetics | Cadherins - genetics | Usher Syndromes - physiopathology | Organ Culture Techniques | Receptors, AMPA - metabolism | Asparagine - genetics | Disease Models, Animal | Animals, Newborn | Membrane Potentials - drug effects | Nerve Fibers - pathology | Green Fluorescent Proteins - metabolism | Acoustic Stimulation | Membrane Proteins - genetics | Mice, Inbred C57BL | Cochlea - growth & development | Alcohol Oxidoreductases - metabolism | Mice, Transgenic | Synapses - ultrastructure | Cochlea - cytology | Barium - pharmacology | Mutation - genetics | Physical Stimulation - methods | Hair Cells, Auditory - ultrastructure | Lysine - genetics | Patch-Clamp Techniques | Animals | Evoked Potentials, Auditory, Brain Stem - genetics | Quaternary Ammonium Compounds - metabolism | Usher Syndromes - pathology | Mice | Nerve Fibers - ultrastructure | Pyridinium Compounds - metabolism | Cell Line, Transformed | Index Medicus | hair bundle | stereocilia | USH3 | Clarin-1
Journal Article
Annals of Otology, Rhinology & Laryngology, ISSN 0003-4894, 5/2015, Volume 124, Issue 1_suppl, pp. 94S - 99S
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2013, Volume 8, Issue 11, pp. e79226 - e79226
Sildenafil citrate (Viagra), a phosphodiesterase 5 inhibitor (PDE5i), is a commonly prescribed drug for erectile dysfunction. Since the introduction of Viagra... 
HEARING-LOSS | C57BL/6J MICE | SILDENAFIL | GENE | MULTIDISCIPLINARY SCIENCES | DEAFNESS | CLARIN-1 | INHIBITORS | MUTATIONS | IMPAIRMENT | Erectile Dysfunction - physiopathology | Phosphodiesterase 5 Inhibitors - adverse effects | Humans | Sulfones - adverse effects | Male | Sulfones - pharmacology | Cyclic GMP-Dependent Protein Kinases - metabolism | Sildenafil Citrate | Hearing Loss - metabolism | Cochlea - metabolism | Erectile Dysfunction - drug therapy | Evoked Potentials, Auditory, Brain Stem - drug effects | Purines - adverse effects | Phosphodiesterase 5 Inhibitors - pharmacology | Hearing Loss - chemically induced | Hearing Loss - physiopathology | Purines - pharmacology | Cochlea - physiopathology | Rats | Reverse Transcriptase Polymerase Chain Reaction | Piperazines - adverse effects | Piperazines - pharmacology | Erectile Dysfunction - metabolism | Animals | Cyclic GMP - metabolism | Mice | Aging - metabolism | Drugs | Prescribing | Impotence | Analysis | Research | Sildenafil | Noise | Brain stem | Otolaryngology | Acoustics | Hearing protection | Kinases | Surgery | Cyclic GMP | Viagra | Age | Phosphodiesterase | Hair | Statistical analysis | Case reports | Erectile dysfunction | Hearing impairment | Gene expression | Angina pectoris | Citric acid | Hearing loss | Studies | Hearing | Hospitals | Cochlea | Adults | Mutation | Ototoxicity | Index Medicus
Journal Article
Journal Article
Journal Article
Clinical Genetics, ISSN 0009-9163, 12/2004, Volume 66, Issue 6, pp. 525 - 529
Journal Article