L
Louis M. Kunkel
Researcher at Boston Children's Hospital
Publications - 359
Citations - 46293
Louis M. Kunkel is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Muscular dystrophy & Dystrophin. The author has an hindex of 104, co-authored 352 publications receiving 44428 citations. Previous affiliations of Louis M. Kunkel include Cooperative Research Centre & Howard Hughes Medical Institute.
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Journal ArticleDOI
Dystrophin: The protein product of the duchenne muscular dystrophy locus
TL;DR: The identification of the mdx mouse as an animal model for DMD has important implications with regard to the etiology of the lethal DMD phenotype, and the protein dystrophin is named because of its identification via the isolation of the Duchenne muscular dystrophy locus.
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Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.
TL;DR: The 14 kb human Duchenne muscular dystrophy cDNA corresponding to a complete representation of the fetal skeletal muscle transcript has been cloned and the majority of deletions are concentrated in a single genomic segment corresponding to only 2 kb of the transcript.
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Dystrophin expression in the mdx mouse restored by stem cell transplantation
Emanuela Gussoni,Yuko Soneoka,Corinne D. Strickland,Elizabeth A. Buzney,Mohamed K. Khan,Alan F. Flint,Louis M. Kunkel,Louis M. Kunkel,Richard C. Mulligan +8 more
TL;DR: Results suggest that the transplantation of different stem cell populations, using the procedures of bone marrow transplantation, might provide an unanticipated avenue for treating muscular dystrophy as well as other diseases where the systemic delivery of therapeutic cells to sites throughout the body is critical.
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The Complete Sequence of Dystrophin Predicts a Rod-Shaped Cytoskeletal Protein
M. Koenig,M. Koenig,Anthony P. Monaco,Anthony P. Monaco,Louis M. Kunkel,Louis M. Kunkel,Louis M. Kunkel +6 more
TL;DR: The complete sequence of the human Duchenne muscular dystrophy cDNA has been determined and dystrophin shares many features with the cytoskeletal protein spectrin and alpha-actinin and is likely to adopt a rod shape about 150 nm in length.
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An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.
TL;DR: A molecular mechanism to explain the clinical difference in severity between DMD and BMD patients who bear partial deletions of the same gene locus is presented and is applicable to potential 5' and 3' intron splice mutations and their effect on protein production and clinical phenotype.