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Items: 1 to 20 of 52

1.
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
AbstractArticlePDF–885K
2.
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
AbstractArticlePDF–1.4M
3.
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
AbstractArticlePDF–856K
4.
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
AbstractArticlePDF–1.1M
5.
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
AbstractArticlePDF–3.1M
6.
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
AbstractArticlePDF–1.4M
7.
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
AbstractArticlePDF–3.7M
8.
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
AbstractArticlePDF–189K
9.
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype
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
AbstractArticlePDF–869K
10.
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
AbstractArticlePDF–1.1M
11.
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
AbstractArticlePDF–210K
12.
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
AbstractArticlePDF–650K
13.
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
AbstractArticlePDF–1.9M
14.
TRAPPC9 Mediates the Interaction between p150Glued 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
AbstractArticlePDF–1.9M
15.
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
AbstractArticlePDF–1.5M
16.
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
AbstractArticlePDF–483K
17.
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
AbstractArticlePDF–8.8M
18.
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
AbstractArticlePDF–663K
19.
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
AbstractArticlePDF–712K
20.
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
AbstractArticlePDF–1.0M

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