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 ResearchMolecular Genetic Dissection of Mouse Unconventional Myosin-VA: Tail Region Mutations
Huang J, Mermall V, Strobel M, Russell L, Mooseker M, Copeland N, Jenkins N. Molecular Genetic Dissection of Mouse Unconventional Myosin-VA: Tail Region Mutations. Genetics 1998, 148: 1963-1972. PMID: 9560409, PMCID: PMC1460104, DOI: 10.1093/genetics/148.4.1963.Peer-Reviewed Original ResearchConceptsMyosin VaMolecular genetic dissectionMammalian myosinGenetic dissectionProper foldingTail mutationsAlternative splicingColor locusDilute allelesSequencing approachSpecific functionsMutationsTail functionRegion mutationsFirst extensive collectionRT-PCRExtensive collectionSplicingLociTailFoldingIsoformsAllelesCargoSequence
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