PMC Links for Nucleotide (Select 1759490368) - PMC

Select item 58389701.

The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability

Jérémie Mortreux, Tiffany Busa, Dominique P. Germain, Gwenaël Nadeau, Jacques Puechberty, Christine Coubes, Vincent Gatinois, Pierre Cacciagli, Yannis Duffourd, Jean-Marc Pinard, Hélène Tevissen, Laurent Villard, Damien Sanlaville, Nicole Philip, Chantal Missirian

Eur J Hum Genet. 2018 Jan; 26(1): 143–148. Published online 2017 Nov 29. doi: 10.1038/s41431-017-0018-x

PMCID:: PMC5838970

Abstract Article PDF–1.1M

Select item 52684902.

Knockdown of NIK and IKKβ-Binding Protein (NIBP) Reduces Colorectal Cancer Metastasis through Down-Regulation of the Canonical NF-κΒ Signaling Pathway and Suppression of MAPK Signaling Mediated through ERK and JNK

Mengbin Qin, Jinxiu Zhang, Chunyan Xu, Peng Peng, Lin Tan, Shiquan Liu, Jiean Huang

PLoS One. 2017; 12(1): e0170595. Published online 2017 Jan 26. doi: 10.1371/journal.pone.0170595

PMCID:: PMC5268490

Abstract Article PDF–3.1M

Select item 48691703.

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group

Nat Commun. 2016; 7: 11491. Published online 2016 May 13. doi: 10.1038/ncomms11491

PMCID:: PMC4869170

Abstract Article PDF–2.0M

Select item 37074864.

NIBP, a Novel NIK and IKKβ-binding Protein That Enhances NF-κB Activation

Wen-Hui Hu, Julie S. Pendergast, Xian-Ming Mo, Roberta Brambilla, Valerie Bracchi-Ricard, Fang Li, Winston M. Walters, Bas Blits, Li He, Sandra M. Schaal, John R. Bethea

J Biol Chem. Author manuscript; available in PMC 2013 Jul 10.

Published in final edited form as: J Biol Chem. 2005 Aug 12; 280(32): 29233–29241. Published online 2005 Jun 10. doi: 10.1074/jbc.M501670200

PMCID:: PMC3707486

Abstract Article PDF–712K

Select item 27959155.

Genome-wide discovery of maternal effect variants

Jack W Kent, Jr, Charles P Peterson, Thomas D Dyer, Laura Almasy, John Blangero

BMC Proc. 2009; 3(Suppl 7): S19. Published online 2009 Dec 15. doi: 10.1186/1753-6561-3-s7-s19

PMCID:: PMC2795915

Abstract Article PDF–210K

Select item 27958006.

Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation

Orianne Philippe, Marlène Rio, Astrid Carioux, Jean-Marc Plaza, Philippe Guigue, Florence Molinari, Nathalie Boddaert, Christine Bole-Feysot, Patrick Nitschke, Asma Smahi, Arnold Munnich, Laurence Colleaux

Am J Hum Genet. 2009 Dec 11; 85(6): 903–908. doi: 10.1016/j.ajhg.2009.11.007

PMCID:: PMC2795800

Abstract Article PDF–483K

Select item 27905767.

A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly

Ganeshwaran H. Mochida, Muhammad Mahajnah, Anthony D. Hill, Lina Basel-Vanagaite, Danielle Gleason, R. Sean Hill, Adria Bodell, Moira Crosier, Rachel Straussberg, Christopher A. Walsh

Am J Hum Genet. 2009 Dec 11; 85(6): 897–902. doi: 10.1016/j.ajhg.2009.10.027

PMCID:: PMC2790576

Abstract Article PDF–1.0M

Select item 27905718.

Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

Asif Mir, Liana Kaufman, Abdul Noor, Mahdi M. Motazacker, Talal Jamil, Matloob Azam, Kimia Kahrizi, Muhammad Arshad Rafiq, Rosanna Weksberg, Tanveer Nasr, Farooq Naeem, Andreas Tzschach, Andreas W. Kuss, Gisele E. Ishak, Dan Doherty, H. Hilger Ropers, A. James Barkovich, Hossein Najmabadi, Muhammad Ayub, John B. Vincent

Am J Hum Genet. 2009 Dec 11; 85(6): 909–915. doi: 10.1016/j.ajhg.2009.11.009

PMCID:: PMC2790571

Abstract Article PDF–650K

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