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Select item 86836251.

Identification of two novel homozygous nonsense mutations in TRAPPC9 in two unrelated consanguineous families with intellectual Disability from Iran

Farideh Yousefipour, Hossein Mozhdehipanah, Frouzandeh Mahjoubi

Mol Genet Genomic Med. 2021 Dec; 9(12): e1610. Published online 2021 Jan 29. doi: 10.1002/mgg3.1610

PMCID:: PMC8683625

Article PDF–885K

Select item 80688222.

Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing

Maria Isabel Alvarez-Mora, Jordi Corominas, Christian Gilissen, Aurora Sanchez, Irene Madrigal, Laia Rodriguez-Revenga

Genes (Basel) 2021 Apr; 12(4): 557. Published online 2021 Apr 12. doi: 10.3390/genes12040557

PMCID:: PMC8068822

Article PDF–1.4M

Select item 66214403.

Genome-Wide Linkage Analysis of Human Auditory Cortical Activation Suggests Distinct Loci on Chromosomes 2, 3, and 8

Hanna Renvall, Elina Salmela, Minna Vihla, Mia Illman, Eira Leinonen, Juha Kere, Riitta Salmelin

J Neurosci. 2012 Oct 17; 32(42): 14511–14518. doi: 10.1523/JNEUROSCI.1483-12.2012

PMCID:: PMC6621440

Article PDF–856K

Select item 58389704.

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

Article PDF–1.1M

Select item 52684905.

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

Article PDF–3.1M

Select item 44674296.

Elevated NIBP/TRAPPC9 mediates tumorigenesis of cancer cells through NFκB signaling

Yonggang Zhang, Shu Liu, Hong Wang, Wensheng Yang, Fang Li, Fan Yang, Daohai Yu, Frederick V. Ramsey, George P. Tuszyski, Wenhui Hu

Oncotarget. 2015 Mar 20; 6(8): 6160–6178. Published online 2015 Jan 31. doi: 10.18632/oncotarget.3349

PMCID:: PMC4467429

Article PDF–1.4M

Select item 40943387.

Identification of conserved, centrosome-targeting ASH domains in TRAPPII complex subunits and TRAPPC8

Kenneth B Schou, Stine K Morthorst, Søren T Christensen, Lotte B Pedersen

Cilia. 2014; 3: 6. Published online 2014 Jun 18. doi: 10.1186/2046-2530-3-6

PMCID:: PMC4094338

Article PDF–3.7M

Select item 40312628.

De novo Mutations in Schizophrenia Implicate Chromatin Remodeling and Support a Genetic Overlap with Autism and Intellectual Disability

Shane E. McCarthy, Jesse Gillis, Melissa Kramer, Jayon Lihm, Seungtai Yoon, Yael Berstein, Meeta Mistry, Paul Pavlidis, Rebecca Solomon, Elena Ghiban, Eric Antoniou, Eric Kelleher, Carol O’Brien, Gary Donohoe, Michael Gill, Derek W. Morris, W. Richard. McCombie, Aiden Corvin

Mol Psychiatry. Author manuscript; available in PMC 2014 Dec 1.

Published in final edited form as: Mol Psychiatry. 2014 Jun; 19(6): 652–658. Published online 2014 Apr 29. doi: 10.1038/mp.2014.29

PMCID:: PMC4031262

Article PDF–189K

Select item 35482589.

Giuseppe Marangi, Vincenzo Leuzzi, Filippo Manti, Serena Lattante, Daniela Orteschi, Vanna Pecile, Giovanni Neri, Marcella Zollino

Eur J Hum Genet. 2013 Feb; 21(2): 229–232. Published online 2012 May 2. doi: 10.1038/ejhg.2012.79

PMCID:: PMC3548258

Article PDF–869K

Select item 342223610.

Detection of Parent-of-Origin Specific Expression Quantitative Trait Loci by Cis-Association Analysis of Gene Expression in Trios

Paras Garg, Christelle Borel, Andrew J. Sharp

PLoS One. 2012; 7(8): e41695. Published online 2012 Aug 17. doi: 10.1371/journal.pone.0041695

PMCID:: PMC3422236

Article PDF–1.1M

Select item 279591511.

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

Article PDF–210K

Select item 279057112.

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

Article PDF–650K

Select item 398693513.

The PEG13-DMR and brain-specific enhancers dictate imprinted expression within the 8q24 intellectual disability risk locus

Franck Court, Cristina Camprubi, Cristina Vicente Garcia, Amy Guillaumet-Adkins, Angela Sparago, Davide Seruggia, Juan Sandoval, Manel Esteller, Alex Martin-Trujillo, Andrea Riccio, Lluis Montoliu, David Monk

Epigenetics Chromatin. 2014; 7: 5. Published online 2014 Mar 25. doi: 10.1186/1756-8935-7-5

PMCID:: PMC3986935

Article PDF–1.9M

Select item 326117114.

TRAPPC9 Mediates the Interaction between p150^Glued and COPII Vesicles at the Target Membrane

Min Zong, Ayano Satoh, Mei Kuen Yu, Ka Yu Siu, Wing Yan Ng, Hsiao Chang Chan, Julian A. Tanner, Sidney Yu

PLoS One. 2012; 7(1): e29995. Published online 2012 Jan 18. doi: 10.1371/journal.pone.0029995

PMCID:: PMC3261171

Article PDF–1.9M

Select item 309690915.

A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability

Muzammil Ahmad Khan, Muhammad Arshad Rafiq, Abdul Noor, Nadir Ali, Ghazanfar Ali, John B Vincent, Muhammad Ansar

BMC Med Genet. 2011; 12: 56. Published online 2011 Apr 22. doi: 10.1186/1471-2350-12-56

PMCID:: PMC3096909

Article PDF–1.5M

Select item 279580016.

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

Article PDF–483K

Select item 919275317.

RING finger 138 deregulation distorts NF-кB signaling and facilities colitis switch to aggressive malignancy

Yalan Lu, Rong Huang, Jianming Ying, Xingchen Li, Tao Jiao, Lei Guo, Haitao Zhou, Han Wang, Amannisa Tuersuntuoheti, Jianmei Liu, Qichen Chen, Yanhong Wang, Luying Su, Changyuan Guo, Fu Xu, Ziyi Wang, Yan Lu, Kai Li, Junbo Liang, Zhen Huang, Xiao Chen, Jinjie Yao, Hanjie Hu, Xiaowen Cheng, Yufeng Wan, Xinyan Chen, Ning Zhang, Shiying Miao, Jianqiang Cai, Linfang Wang, Changzheng Liu, Wei Song, Hong Zhao

Signal Transduct Target Ther. 2022; 7: 185. Published online 2022 Jun 13. doi: 10.1038/s41392-022-00985-1

PMCID:: PMC9192753

Article PDF–8.8M

Select item 315611618.

The Adaptor Function of TRAPPC2 in Mammalian TRAPPs Explains TRAPPC2-Associated SEDT and TRAPPC9-Associated Congenital Intellectual Disability

Min Zong, Xing-gang Wu, Cecilia W. L. Chan, Mei Y. Choi, Hsiao Chang Chan, Julian A. Tanner, Sidney Yu

PLoS One. 2011; 6(8): e23350. Published online 2011 Aug 15. doi: 10.1371/journal.pone.0023350

PMCID:: PMC3156116

Article PDF–663K

Select item 370748619.

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

Article PDF–712K

Select item 279057620.

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

Article PDF–1.0M

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