PMC Links for GEO Profiles (Select 35408603) - PMC

Select item 62372281.

A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies

Peter R. Serafini, Michael J. Feyder, Rylie M. Hightower, Daniela Garcia-Perez, Natássia M. Vieira, Angela Lek, Devin E. Gibbs, Omar Moukha-Chafiq, Corinne E. Augelli-Szafran, Genri Kawahara, Jeffrey J. Widrick, Louis M. Kunkel, Matthew S. Alexander

JCI Insight. 2018 Sep 20; 3(18): e120493. Published online 2018 Sep 20. doi: 10.1172/jci.insight.120493

PMCID:: PMC6237228

Article PDF–2.3M

Select item 46341372.

RFX transcription factors are essential for hearing in mice

Ran Elkon, Beatrice Milon, Laura Morrison, Manan Shah, Sarath Vijayakumar, Manoj Racherla, Carmen C. Leitch, Lorna Silipino, Shadan Hadi, Michèle Weiss-Gayet, Emmanuèle Barras, Christoph D. Schmid, Aouatef Ait-Lounis, Ashley Barnes, Yang Song, David J. Eisenman, Efrat Eliyahu, Gregory I. Frolenkov, Scott E. Strome, Bénédicte Durand, Norann A. Zaghloul, Sherri M. Jones, Walter Reith, Ronna Hertzano

Nat Commun. 2015; 6: 8549. Published online 2015 Oct 15. doi: 10.1038/ncomms9549

PMCID:: PMC4634137

Article PDF–5.5M

Select item 33786613.

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of a-dystroglycan

Tony Roscioli, Erik-Jan Kamsteeg, Karen Buysse, Isabelle Maystadt, Jeroen van Reeuwijk, Christa van den Elzen, Ellen van Beusekom, Moniek Riemersma, Rolph Pfundt, Lisenka E.L.M. Vissers, Margit Schraders, Umut Altunoglu, Michael F. Buckley, Han G. Brunner, Bernard Grisart, Huiqing Zhou, Joris A. Veltman, Christian Gilissen, Grazia M.S. Mancini, Paul Delrée, Michèl A. Willemsen, Danijela Petkovic Ramadža, David Chitayat, Christopher Bennett, Eamonn Sheridan, Els A.J. Peeters, Gita M.B. Tan-Sindhunata, Christine E. de Die-Smulders, Koenraad Devriendt, Hülya Kayserili, Osama Abd El-Fattah El-Hashash, Derek L. Stemple, Dirk J. Lefeber, Yung-Yao Lin, Hans van Bokhoven

Nat Genet. Author manuscript; available in PMC 2012 Jul 1.

Published in final edited form as: Nat Genet. 2012 May; 44(5): 581–585. doi: 10.1038/ng.2253

PMCID:: PMC3378661

Article PDF–2.1M

Select item 31780594.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Article PDF–1.0M

Select item 1392415.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Article PDF–118K

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