1997
The Genomic Structure of the Gene Defective in Usher Syndrome Type Ib (MYO7A)
Kelley P, Weston M, Chen Z, Orten D, Hasson T, Overbeck L, Pinnt J, Talmadge C, Ing P, Mooseker M, Corey D, Sumegi J, Kimberling W. The Genomic Structure of the Gene Defective in Usher Syndrome Type Ib (MYO7A). Genomics 1997, 40: 73-79. PMID: 9070921, DOI: 10.1006/geno.1996.4545.Peer-Reviewed Original ResearchEffects of shaker‐1 mutations on myosin‐VIIa protein and mRNA expression
Hasson T, Walsh J, Cable J, Mooseker M, Brown S, Steel K. Effects of shaker‐1 mutations on myosin‐VIIa protein and mRNA expression. Cytoskeleton 1997, 37: 127-138. PMID: 9186010, DOI: 10.1002/(sici)1097-0169(1997)37:2<127::aid-cm5>3.0.co;2-5.Peer-Reviewed Original ResearchConceptsShaker-1 mutationsWild-type levelsNorthern blot analysisMammalian diseasesActin cytoskeletonMyosin VIIaShaker-1 miceGene expressionUnconventional myosinMRNA expressionProteinMyosin-VIIa mutationsImmunoblot analysisMotor domainRange of expressionMutationsBlot analysisAllelesProtein expressionTissue functionExpressionLife spanSH1Inner earLight microscopic level
1996
Molecular Cloning and Domain Structure of Human Myosin-VIIa, the Gene Product Defective in Usher Syndrome 1B
Chen Z, Hasson T, Kelley P, Schwender B, Schwartz M, Ramakrishnan M, Kimberling W, Mooseker M, Corey D. Molecular Cloning and Domain Structure of Human Myosin-VIIa, the Gene Product Defective in Usher Syndrome 1B. Genomics 1996, 36: 440-448. PMID: 8884267, DOI: 10.1006/geno.1996.0489.Peer-Reviewed Original ResearchConceptsUsher syndrome 1BIntestinal epithelium cell lineProgressive retinal degenerationEpithelium cell lineVestibular functionMyosin VIIaPigment epitheliumRetinal degenerationInner earReceptor cellsRT-PCRBand 4.1 familyRestricted expressionShort formCell linesMembrane-associated portionHuman myosin VIIaMolecular cloningLong transcriptsTestisShort transcriptsUnconventional myosinLong repeatsHigh abundanceAmino acids
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