PMC Links for Protein (Select 308153487) - 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 26104342.

DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage

Michael C. Zody, Manuel Garber, David J. Adams, Ted Sharpe, Jennifer Harrow, James R. Lupski, Christine Nicholson, Steven M. Searle, Laurens Wilming, Sarah K. Young, Amr Abouelleil, Nicole R. Allen, Weimin Bi, Toby Bloom, Mark L. Borowsky, Boris E. Bugalter, Jonathan Butler, Jean L. Chang, Chao-Kung Chen, April Cook, Benjamin Corum, Christina A. Cuomo, Pieter J. de Jong, David DeCaprio, Ken Dewar, Michael FitzGerald, James Gilbert, Richard Gibson, Sante Gnerre, Steven Goldstein, Darren V. Grafham, Russell Grocock, Nabil Hafez, Daniel S. Hagopian, Elizabeth Hart, Catherine Hosage Norman, Sean Humphray, David B. Jaffe, Matt Jones, Michael Kamal, Varsha K. Khodiyar, Kurt LaButti, Gavin Laird, Jessica Lehoczky, Xiaohong Liu, Tashi Lokyitsang, Jane Loveland, Annie Lui, Pendexter Macdonald, John E. Major, Lucy Matthews, Evan Mauceli, Steven A. McCarroll, Atanas H. Mihalev, Jonathan Mudge, Cindy Nguyen, Robert Nicol, Sinéad B. O'Leary, Kazutoyo Osoegawa, David C. Schwartz, Charles Shaw-Smith, Pawel Stankiewicz, Charles Steward, David Swarbreck, Vijay Venkataraman, Charles A. Whittaker, Xiaoping Yang, Andrew R. Zimmer, Allan Bradley, Tim Hubbard, Bruce W. Birren, Jane Rogers, Eric S. Lander, Chad Nusbaum

Nature. Author manuscript; available in PMC 2008 Dec 29.

Published in final edited form as: Nature. 2006 Apr 20; 440(7087): 1045–1049. doi: 10.1038/nature04689

PMCID:: PMC2610434

Abstract Article PDF–947K

Select item 5289283.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Abstract Article PDF–140K

Select item 1645204.

Identification of receptors for pig endogenous retrovirus

Thomas A. Ericsson, Yasuhiro Takeuchi, Christian Templin, Gary Quinn, Shelli F. Farhadian, James C. Wood, Beth A. Oldmixon, Kristen M. Suling, Jennifer K. Ishii, Yoshinori Kitagawa, Takayuki Miyazawa, Daniel R. Salomon, Robin A. Weiss, Clive Patience

Proc Natl Acad Sci U S A. 2003 May 27; 100(11): 6759–6764. Published online 2003 May 9. doi: 10.1073/pnas.1138025100

PMCID:: PMC164520

Abstract Article PDF–343K

Select item 56506695.

THE CONCISE GUIDE TO PHARMACOLOGY 2017/18: Transporters

Stephen PH Alexander, Eamonn Kelly, Neil V Marrion, John A Peters, Elena Faccenda, Simon D Harding, Adam J Pawson, Joanna L Sharman, Christopher Southan, Jamie A Davies, CGTP Collaborators

Br J Pharmacol. 2017 Dec; 174(Suppl Suppl 1): S360–S446. Published online 2017 Oct 21. doi: 10.1111/bph.13883

PMCID:: PMC5650669

Abstract Article PDF–1.7M

Select item 47182156.

The Concise Guide to PHARMACOLOGY 2015/16: Transporters

Stephen PH Alexander, Eamonn Kelly, Neil Marrion, John A Peters, Helen E Benson, Elena Faccenda, Adam J Pawson, Joanna L Sharman, Christopher Southan, Jamie A Davies, CGTP Collaborators

Br J Pharmacol. 2015 Dec; 172(24): 6110–6202. Published online 2015 Dec 9. doi: 10.1111/bph.13355

PMCID:: PMC4718215

Abstract Article PDF–2.0M

Select item 38922927.

The Concise Guide to Pharmacology 2013/14: Transporters

Stephen PH Alexander, Helen E Benson, Elena Faccenda, Adam J Pawson, Joanna L Sharman, Michael Spedding, John A Peters, Anthony J Harmar

Br J Pharmacol. 2013 Dec; 170(8): 1706–1796. Published online 2013 Dec 17. doi: 10.1111/bph.12450

PMCID:: PMC3892292

Abstract Article PDF–1.6M

Select item 26309888.

Identification of two distinct structural regions in a human porcine endogenous retrovirus receptor, HuPAR2, contributing to function for viral entry

Katherine T Marcucci, Takele Argaw, Carolyn A Wilson, Daniel R Salomon

Retrovirology. 2009; 6: 3. Published online 2009 Jan 14. doi: 10.1186/1742-4690-6-3

PMCID:: PMC2630988

Abstract Article PDF–1.2M

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