2001
Myosin-VIIb, a Novel Unconventional Myosin, Is a Constituent of Microvilli in Transporting Epithelia
Chen Z, Hasson T, Zhang D, Schwender B, Derfler B, Mooseker M, Corey D. Myosin-VIIb, a Novel Unconventional Myosin, Is a Constituent of Microvilli in Transporting Epithelia. Genomics 2001, 72: 285-296. PMID: 11401444, DOI: 10.1006/geno.2000.6456.Peer-Reviewed Original ResearchAmino Acid SequenceAnimalsBase SequenceBiological TransportBlotting, NorthernBlotting, WesternChromosome MappingCloning, MolecularDNA, ComplementaryEpitheliumExonsFemaleGenesImmunohistochemistryIntestinesIntronsKidneyMiceMice, Inbred BALB CMicrovilliMolecular Sequence DataMyosinsPhylogenyProtein IsoformsRNA, MessengerSequence AlignmentSequence Analysis, DNASequence Homology, Amino AcidTissue Distribution
2000
The mouse neurological mutant flailer expresses a novel hybrid gene derived by exon shuffling between Gnb5 and Myo5a
Jones J, Huang J, Mermall V, Hamilton B, Mooseker M, Escayg A, Copeland N, Jenkins N, Meisler M. The mouse neurological mutant flailer expresses a novel hybrid gene derived by exon shuffling between Gnb5 and Myo5a. Human Molecular Genetics 2000, 9: 821-828. PMID: 10749990, DOI: 10.1093/hmg/9.5.821.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsBase SequenceBrainDNA, ComplementaryExonsFungal ProteinsGene DosageGenes, RecessiveGTP-Binding Protein beta SubunitsIntronsMiceMice, Inbred C57BLMice, Mutant StrainsMicroscopy, ElectronMolecular Sequence DataMonomeric GTP-Binding ProteinsMyosin Type IMyosinsPurkinje CellsRNA, MessengerSaccharomyces cerevisiae ProteinsConceptsN-terminal 83 amino acidsAmino acidsWild-type proteinGlobular tail domainNon-homologous recombinationSmooth endoplasmic reticulum vesiclesNovel hybrid geneDominant-negative mechanismExon shufflingChromosomal arrangementsMammalian mutationsNew genesNovel genesUnrelated genesEndoplasmic reticulum vesiclesTail domainHybrid geneMutational mechanismsTerminal exonIntracellular transportGenetic studiesGenesExonsProteinGNB5
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 Research
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