PMC Links for OMIM (Select 617083) - PMC - NCBI

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Items: 4

Select item 44869721.

DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects

Kristin Kessler, Ina Wunderlich, Steffen Uebe, Nathalie S. Falk, Andreas Gießl, Johann Helmut Brandstätter, Bernt Popp, Patricia Klinger, Arif B. Ekici, Heinrich Sticht, Helmuth-Günther Dörr, André Reis, Ronald Roepman, Eva Seemanová, Christian T. Thiel

Sci Rep. 2015; 5: 11649. Published online 2015 Jul 1. doi: 10.1038/srep11649

PMCID:: PMC4486972

Abstract Article PDF–1.3M

Select item 44703322.

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome

S. Paige Taylor, Tiago J. Dantas, Ivan Duran, Sulin Wu, Ralph S. Lachman, University of Washington Center for Mendelian Genomics, Stanley F. Nelson, Daniel H. Cohn, Richard B. Vallee, Deborah Krakow

Nat Commun. Author manuscript; available in PMC 2015 Dec 16.

Published in final edited form as: Nat Commun. 2015; 6: 7092. Published online 2015 Jun 16. doi: 10.1038/ncomms8092

PMCID:: PMC4470332

Abstract Article PDF–1.8M

Select item 1650963.

A Novel Dynein Light Intermediate Chain Colocalizes with the Retrograde Motor for Intraflagellar Transport at Sites of Axoneme Assembly in Chlamydomonas and Mammalian Cells

Catherine A. Perrone, Douglas Tritschler, Patrick Taulman, Raqual Bower, Bradley K. Yoder, Mary E. Porter

Mol Biol Cell. 2003 May; 14(5): 2041–2056. doi: 10.1091/mbc.E02-10-0682

PMCID:: PMC165096

Abstract Article PDF–1.4M

Select item 996014.

Identification of a Novel Light Intermediate Chain (D2LIC) for Mammalian Cytoplasmic Dynein 2

Paula M. Grissom, Eugeni A. Vaisberg, J. Richard McIntosh

Mol Biol Cell. 2002 Mar; 13(3): 817–829. doi: 10.1091/mbc.01-08-0402

PMCID:: PMC99601

Abstract Article PDF–1.6M

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