Full text in PMC (nucleotide) for Gene (Select 362197) - PMC

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Items: 3

Select item 52947541.

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis

Maxence S. Macia, Jan Halbritter, Marion Delous, Cecilie Bredrup, Arthur Gutter, Emilie Filhol, Anne E.C. Mellgren, Sabine Leh, Albane Bizet, Daniela A. Braun, Heon Y. Gee, Flora Silbermann, Charline Henry, Pauline Krug, Christine Bole-Feysot, Patrick Nitschké, Dominique Joly, Philippe Nicoud, André Paget, Heidi Haugland, Damien Brackmann, Nayir Ahmet, Richard Sandford, Nurcan Cengiz, Per M. Knappskog, Helge Boman, Bolan Linghu, Fan Yang, Edward J. Oakeley, Pierre Saint Mézard, Andreas W. Sailer, Stefan Johansson, Eyvind Rødahl, Sophie Saunier, Friedhelm Hildebrandt, Alexandre Benmerah

Am J Hum Genet. 2017 Feb 2; 100(2): 323–333. Published online 2017 Jan 12. doi: 10.1016/j.ajhg.2016.12.011

Correction in:: Am J Hum Genet. 2017 Feb 2; 100(2): 372.

PMCID:: PMC5294754

Abstract Article PDF–3.3M

Select item 34361482.

The c-Jun N-terminal Kinase (JNK)-binding Protein (JNKBP1) Acts as a Negative Regulator of NOD2 Protein Signaling by Inhibiting Its Oligomerization Process

Aurore Lecat, Emmanuel Di Valentin, Joan Somja, Samuel Jourdan, Marianne Fillet, Thomas A. Kufer, Yvette Habraken, Catherine Sadzot, Edouard Louis, Philippe Delvenne, Jacques Piette, Sylvie Legrand-Poels

J Biol Chem. 2012 Aug 24; 287(35): 29213–29226. Published online 2012 Jun 14. doi: 10.1074/jbc.M112.355545

PMCID:: PMC3436148

Abstract Article PDF–3.1M

Select item 5402773.

Gene and alternative splicing annotation with AIR

Liliana Florea, Valentina Di Francesco, Jason Miller, Russell Turner, Alison Yao, Michael Harris, Brian Walenz, Clark Mobarry, Gennady V. Merkulov, Rosane Charlab, Ian Dew, Zuoming Deng, Sorin Istrail, Peter Li, Granger Sutton

Genome Res. 2005 Jan; 15(1): 54–66. doi: 10.1101/gr.2889405