PMC Links for Nucleotide (Select 1519246054) - PMC

Select item 53392171.

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Manuela Wiessner, Andreas Roos, Christopher J. Munn, Ranjith Viswanathan, Tamieka Whyte, Dan Cox, Benedikt Schoser, Caroline Sewry, Helen Roper, Rahul Phadke, Chiara Marini Bettolo, Rita Barresi, Richard Charlton, Carsten G. Bönnemann, Osório Abath Neto, Umbertina C. Reed, Edmar Zanoteli, Cristiane Araújo Martins Moreno, Birgit Ertl-Wagner, Rolf Stucka, Christian De Goede, Tamiris Borges da Silva, Denisa Hathazi, Margherita Dell’Aica, René P. Zahedi, Simone Thiele, Juliane Müller, Helen Kingston, Susanna Müller, Elizabeth Curtis, Maggie C. Walter, Tim M. Strom, Volker Straub, Kate Bushby, Francesco Muntoni, Laura E. Swan, Hanns Lochmüller, Jan Senderek

Am J Hum Genet. 2017 Mar 2; 100(3): 523–536. Published online 2017 Feb 9. doi: 10.1016/j.ajhg.2017.01.024

PMCID:: PMC5339217

Abstract Article PDF–2.0M

Select item 53391122.

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy

Daniel P.S. Osborn, Heather L. Pond, Neda Mazaheri, Jeremy Dejardin, Christopher J. Munn, Khaloob Mushref, Edmund S. Cauley, Isabella Moroni, Maria Barbara Pasanisi, Elizabeth A. Sellars, R. Sean Hill, Jennifer N. Partlow, Rebecca K. Willaert, Jaipreet Bharj, Reza Azizi Malamiri, Hamid Galehdari, Gholamreza Shariati, Reza Maroofian, Marina Mora, Laura E. Swan, Thomas Voit, Francesco J. Conti, Yalda Jamshidi, M. Chiara Manzini

Am J Hum Genet. 2017 Mar 2; 100(3): 537–545. Published online 2017 Feb 9. doi: 10.1016/j.ajhg.2017.01.019

PMCID:: PMC5339112

Abstract Article PDF–2.3M

Select item 1411393.

SKIP Negatively Regulates Insulin-Induced GLUT4 Translocation and Membrane Ruffle Formation

Takeshi Ijuin, Tadaomi Takenawa

Mol Cell Biol. 2003 Feb; 23(4): 1209–1220. doi: 10.1128/MCB.23.4.1209-1220.2003

PMCID:: PMC141139

Abstract Article PDF–687K

Select item 27835694.

siRNA library screen of human kinases and phosphatases identifies polo-like kinase 1 as a promising new target for the treatment of pediatric rhabdomyosarcomas

Kaiji Hu, Cathy Lee, Dexin Qiu, Abbas Fotovati, Alastair Davies, Samah Abu-Ali, Daniel Wai, Elizabeth R. Lawlor, Timothy J. Triche, Catherine J. Pallen, Sandra E. Dunn

Mol Cancer Ther. Author manuscript; available in PMC 2010 Nov 3.

Published in final edited form as: Mol Cancer Ther. 2009 Nov; 8(11): 3024–3035. Published online 2009 Nov 3. doi: 10.1158/1535-7163.MCT-09-0365

PMCID:: PMC2783569

Abstract Article PDF–2.1M

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