1998
Molecular Genetic Dissection of Mouse Unconventional Myosin-VA: Head Region Mutations
Huang J, Cope M, Mermall V, Strobel M, Kendrick-Jones J, Russell L, Mooseker M, Copeland N, Jenkins N. Molecular Genetic Dissection of Mouse Unconventional Myosin-VA: Head Region Mutations. Genetics 1998, 148: 1951-1961. PMID: 9560408, PMCID: PMC1460099, DOI: 10.1093/genetics/148.4.1951.Peer-Reviewed Original Research
1997
Effects 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
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