PMC Links for GEO Profiles (Select 101671204) - PMC

Select item 56386931.

Survival among Children with “Lethal” Congenital Contracture Syndrome 11 Caused by Novel Mutations in the Gliomedin Gene (GLDN)

Jennifer A. Wambach, Georg M. Stettner, Tobias B. Haack, Karin Writzl, Andreja Škofljanec, Aleš Maver, Francina Munell, Stephan Ossowski, Mattia Bosio, Daniel J. Wegner, Marwan Shinawi, Dustin Baldridge, Bader Alhaddad, Tim M. Strom, Dorothy K. Grange, Ekkehard Wilichowski, Robin Troxell, James Collins, Barbara B. Warner, Robert E. Schmidt, Alan Pestronk, F. Sessions Cole, Robert Steinfeld

Hum Mutat. Author manuscript; available in PMC 2018 Nov 1.

Published in final edited form as: Hum Mutat. 2017 Nov; 38(11): 1477–1484. Published online 2017 Aug 17. doi: 10.1002/humu.23297

PMCID:: PMC5638693

Abstract Article PDF–734K

Select item 50656552.

Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis

Jérôme Maluenda, Constance Manso, Loic Quevarec, Alexandre Vivanti, Florent Marguet, Marie Gonzales, Fabien Guimiot, Florence Petit, Annick Toutain, Sandra Whalen, Romulus Grigorescu, Anne Dieux Coeslier, Marta Gut, Ivo Gut, Annie Laquerrière, Jérôme Devaux, Judith Melki

Am J Hum Genet. 2016 Oct 6; 99(4): 928–933. Published online 2016 Sep 8. doi: 10.1016/j.ajhg.2016.07.021

PMCID:: PMC5065655

Abstract Article PDF–1.3M

Select item 43190273.

The Olfactomedin Domain from Gliomedin Is a β-Propeller with Unique Structural Properties

Huijong Han, Petri Kursula

J Biol Chem. 2015 Feb 6; 290(6): 3612–3621. Published online 2014 Dec 17. doi: 10.1074/jbc.M114.627547

PMCID:: PMC4319027

Abstract Article PDF–2.5M

Select item 42318604.

Expression, purification, crystallization and preliminary X-ray crystallographic analysis of the extracellular olfactomedin domain of gliomedin

Huijong Han, Petri Kursula

Acta Crystallogr F Struct Biol Commun. 2014 Nov 1; 70(Pt 11): 1536–1539. Published online 2014 Oct 25. doi: 10.1107/S2053230X14020305

PMCID:: PMC4231860

Abstract Article PDF–354K

Select item 32349765.

Fibronectin Type III-like Domains of Neurofascin-186 Protein Mediate Gliomedin Binding and Its Clustering at the Developing Nodes of Ranvier

Marilyne Labasque, Jérôme J. Devaux, Christian Lévêque, Catherine Faivre-Sarrailh

J Biol Chem. 2011 Dec 9; 286(49): 42426–42434. Published online 2011 Oct 17. doi: 10.1074/jbc.M111.266353

PMCID:: PMC3234976

Abstract Article PDF–2.7M

Select item 31780596.

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

Abstract Article PDF–1.0M

Select item 20648157.

Secreted gliomedin is a perinodal matrix component of peripheral nerves

Yael Eshed, Konstantin Feinberg, David J. Carey, Elior Peles

J Cell Biol. 2007 May 7; 177(3): 551–562. doi: 10.1083/jcb.200612139

PMCID:: PMC2064815

Abstract Article PDF–3.2M

Select item 4036978.

The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment

Hilary F. Clark, Austin L. Gurney, Evangeline Abaya, Kevin Baker, Daryl Baldwin, Jennifer Brush, Jian Chen, Bernard Chow, Clarissa Chui, Craig Crowley, Bridget Currell, Bethanne Deuel, Patrick Dowd, Dan Eaton, Jessica Foster, Christopher Grimaldi, Qimin Gu, Philip E. Hass, Sherry Heldens, Arthur Huang, Hok Seon Kim, Laura Klimowski, Yisheng Jin, Stephanie Johnson, James Lee, Lhney Lewis, Dongzhou Liao, Melanie Mark, Edward Robbie, Celina Sanchez, Jill Schoenfeld, Somasekar Seshagiri, Laura Simmons, Jennifer Singh, Victoria Smith, Jeremy Stinson, Alicia Vagts, Richard Vandlen, Colin Watanabe, David Wieand, Kathryn Woods, Ming-Hong Xie, Daniel Yansura, Sothy Yi, Guoying Yu, Jean Yuan, Min Zhang, Zemin Zhang, Audrey Goddard, William I. Wood, Paul Godowski

Genome Res. 2003 Oct; 13(10): 2265–2270. doi: 10.1101/gr.1293003

Correction in:: Genome Res. 2003 Dec; 13(12): 2759.

PMCID:: PMC403697

Abstract Article PDF–120K

Select item 1392419.

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

Abstract Article PDF–118K

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