PMC Links for GEO Profiles (Select 117707483) - PMC

Select item 53396781.

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

Stefano Volpi, Yasuhiro Yamazaki, Patrick M. Brauer, Ellen van Rooijen, Atsuko Hayashida, Anne Slavotinek, Hye Sun Kuehn, Maja Di Rocco, Carlo Rivolta, Ileana Bortolomai, Likun Du, Kerstin Felgentreff, Lisa Ott de Bruin, Kazutaka Hayashida, George Freedman, Genni Enza Marcovecchio, Kelly Capuder, Prisni Rath, Nicole Luche, Elliott J. Hagedorn, Antonella Buoncompagni, Beryl Royer-Bertrand, Silvia Giliani, Pietro Luigi Poliani, Luisa Imberti, Kerry Dobbs, Fabienne E. Poulain, Alberto Martini, John Manis, Robert J. Linhardt, Marita Bosticardo, Sergio Damian Rosenzweig, Hane Lee, Jennifer M. Puck, Juan Carlos Zúñiga-Pflücker, Leonard Zon, Pyong Woo Park, Andrea Superti-Furga, Luigi D. Notarangelo

J Exp Med. 2017 Mar 6; 214(3): 623–637. doi: 10.1084/jem.20161525

PMCID:: PMC5339678

Abstract Article PDF–2.4M

Select item 52946742.

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

Machteld M. Oud, Paul Tuijnenburg, Maja Hempel, Naomi van Vlies, Zemin Ren, Sacha Ferdinandusse, Machiel H. Jansen, René Santer, Jessika Johannsen, Chiara Bacchelli, Marielle Alders, Rui Li, Rosalind Davies, Lucie Dupuis, Catherine M. Cale, Ronald J.A. Wanders, Steven T. Pals, Louise Ocaka, Chela James, Ingo Müller, Kai Lehmberg, Tim Strom, Hartmut Engels, Hywel J. Williams, Phil Beales, Ronald Roepman, Patricia Dias, Han G. Brunner, Jan-Maarten Cobben, Christine Hall, Taila Hartley, Polona Le Quesne Stabej, Roberto Mendoza-Londono, E. Graham Davies, Sérgio B. de Sousa, Davor Lessel, Heleen H. Arts, Taco W. Kuijpers

Am J Hum Genet. 2017 Feb 2; 100(2): 281–296. Published online 2017 Jan 26. doi: 10.1016/j.ajhg.2017.01.013

PMCID:: PMC5294674

Abstract Article PDF–3.1M

Select item 32816253.

Regenerating Islet-derived 1α (Reg-1α) Protein Is New Neuronal Secreted Factor That Stimulates Neurite Outgrowth via Exostosin Tumor-like 3 (EXTL3) Receptor

Isabelle Acquatella-Tran Van Ba, Stéphane Marchal, Florence François, Michèle Silhol, Coline Lleres, Bernard Michel, Yves Benyamin, Jean-Michel Verdier, Françoise Trousse, Anne Marcilhac

J Biol Chem. 2012 Feb 10; 287(7): 4726–4739. Published online 2011 Dec 9. doi: 10.1074/jbc.M111.260349

PMCID:: PMC3281625

Abstract Article PDF–2.9M

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

Abstract Article PDF–1.0M

Select item 31516495.

Pancreatic regenerating protein (reg I) and reg I receptor mRNA are upregulated in rat pancreas after induction of acute pancreatitis

Martin H Bluth, Sameer A Patel, Brian K Dieckgraefe, Hiroshi Okamoto, Michael E Zenilman

World J Gastroenterol. 2006 Jul 28; 12(28): 4511–4516. Published online 2006 Jul 28. doi: 10.3748/wjg.v12.i28.4511

PMCID:: PMC3151649

Abstract Article PDF–906K

Select item 153886.

The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate

Craig McCormick, Gillian Duncan, K. Tina Goutsos, Frank Tufaro

Proc Natl Acad Sci U S A. 2000 Jan 18; 97(2): 668–673. doi: 10.1073/pnas.97.2.668

PMCID:: PMC15388

Abstract Article PDF–321K

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