1996
Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.
Weston M, Kelley P, Overbeck L, Wagenaar M, Orten D, Hasson T, Chen Z, Corey D, Mooseker M, Sumegi J, Cremers C, Moller C, Jacobson S, Gorin M, Kimberling W. Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. American Journal Of Human Genetics 1996, 59: 1074-83. PMID: 8900236, PMCID: PMC1914835.Peer-Reviewed Original ResearchConceptsCongenital profound hearing lossMyosin-VIIa mutationsType 1 patientsProfound hearing lossUsher syndrome type 1BUnique mutationsPresence of mutationsAutosomal recessive disorderVestibular abnormalitiesMyosin VIIA geneHearing lossRetinitis pigmentosaPatientsType 1bI casesRecessive disorderSingle caseCompound heterozygotesPremature stop codonSimple heterozygotesGreater percentageUnrelated control samplesDisordersMutant allelesCurrent study
1995
Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B.
Hasson T, Heintzelman M, Santos-Sacchi J, Corey D, Mooseker M. Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B. Proceedings Of The National Academy Of Sciences Of The United States Of America 1995, 92: 9815-9819. PMID: 7568224, PMCID: PMC40893, DOI: 10.1073/pnas.92.21.9815.Peer-Reviewed Original ResearchMeSH KeywordsAbnormalities, MultipleAmino Acid SequenceAnimalsAntibody SpecificityBlindnessCochleaDeafnessDyneinsFluorescent Antibody TechniqueGuinea PigsHearing Loss, SensorineuralHumansImmunoblottingMolecular Sequence DataMyosin VIIaMyosinsRatsRetinaRetinitis PigmentosaSequence Homology, Amino AcidSwineSyndromeTissue DistributionConceptsHair cellsMyosin VIIa expressionEpithelial cellsMyosin VIIaCochlear hair cellsMyosin VIIa functionOuter hair cellsUsher syndrome type 1BMyosin VIIA geneVestibular dysfunctionCell-specific localizationCongenital deafnessRetinitis pigmentosaUsher syndromeType 1bType 1B.Normal functionApical stereociliaVIIaDeafnessDisease phenotypeCochleaInherited diseaseRetinaShaker-1