| Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies. | Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies.
Kharrat M, Triki C, Ben Isaa A, Bouchaala W, Alila O, Chouchen J, Ghouliya Y, Kamoun F, Tlili A, Fakhfakh F. | 07/15/2024 |
| Neurodevelopmental Outcome and Epigenetic Changes at 2 Years Associated with the Oxygen Load Received upon Postnatal Stabilization: A Pilot Study. | Neurodevelopmental Outcome and Epigenetic Changes at 2 Years Associated with the Oxygen Load Received upon Postnatal Stabilization: A Pilot Study.
Lorente-Pozo S, Boronat N, Parra-Llorca A, Lara-Cantón I, Solaz-García A, Oltra Soler JV, Busó EJ, Casabó-Vallés G, García-Giménez JL, Pallardó FV, Vento M. | 10/15/2022 |
| Identification of two novel homozygous nonsense mutations in TRAPPC9 in two unrelated consanguineous families with intellectual Disability from Iran. | Identification of two novel homozygous nonsense mutations in TRAPPC9 in two unrelated consanguineous families with intellectual Disability from Iran.
Yousefipour F, Mozhdehipanah H, Mahjoubi F., Free PMC Article | 03/26/2022 |
| Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly. | Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly.
Ben Ayed I, Bouchaala W, Bouzid A, Feki W, Souissi A, Ben Nsir S, Ben Said M, Sammouda T, Majdoub F, Kharrat I, Kamoun F, Elloumi I, Kamoun H, Tlili A, Masmoudi S, Triki C. | 03/5/2022 |
| Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing. | Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing.
Alvarez-Mora MI, Corominas J, Gilissen C, Sanchez A, Madrigal I, Rodriguez-Revenga L., Free PMC Article | 08/14/2021 |
| Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity. | Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity.
Liang ZS, Cimino I, Yalcin B, Raghupathy N, Vancollie VE, Ibarra-Soria X, Firth HV, Rimmington D, Farooqi IS, Lelliott CJ, Munger SC, O'Rahilly S, Ferguson-Smith AC, Coll AP, Logan DW., Free PMC Article | 11/21/2020 |
| TRAPPC9 is associated with ADHD risk. | Contribution of Intellectual Disability-Related Genes to ADHD Risk and to Locomotor Activity in Drosophila.
Klein M, Singgih EL, van Rens A, Demontis D, Børglum AD, Mota NR, Castells-Nobau A, Kiemeney LA, Brunner HG, Arias-Vasquez A, Schenck A, van der Voet M, Franke B. | 07/25/2020 |
| CNVs significantly contribute to the mutational spectrum of TRAPPC9 gene associated with syndromic intellectual disability. | The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability.
Mortreux J, Busa T, Germain DP, Nadeau G, Puechberty J, Coubes C, Gatinois V, Cacciagli P, Duffourd Y, Pinard JM, Tevissen H, Villard L, Sanlaville D, Philip N, Missirian C., Free PMC Article | 12/22/2018 |
| Data show that NIBP expression level is high in gastric cancer (GC) patients and indicate that the NIBPregulated NFkappaB signaling pathway plays a pivotal role in the chemoresistance of GC cells by promoting EMT. | NIK‑ and IKKβ‑binding protein contributes to gastric cancer chemoresistance by promoting epithelial‑mesenchymal transition through the NF‑κB signaling pathway.
Fu ZH, Liu SQ, Qin MB, Huang JA, Xu CY, Wu WH, Zhu LY, Qin N, Lai MY. | 09/22/2018 |
| Homozygous TRAPPC9 gene nonsense mutation in OXTR gene is associated with intellectual disability, speech disorder, and secondary microcephaly. | Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly.
Abbasi AA, Blaesius K, Hu H, Latif Z, Picker-Minh S, Khan MN, Farooq S, Khan MA, Kaindl AM. | 02/17/2018 |
| In this study, we report that WES analysis allowed identification of the causal molecular lesion in both patients. In the first family of Egyptian origin, a homozygous nonsense mutation (c.1423C>T; p.Arg377*) in TRAPPC9 was identified | Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
Giorgio E, Ciolfi A, Biamino E, Caputo V, Di Gregorio E, Belligni EF, Calcia A, Gaidolfi E, Bruselles A, Mancini C, Cavalieri S, Molinatto C, Cirillo Silengo M, Ferrero GB, Tartaglia M, Brusco A. | 10/28/2017 |
| In conclusion, we demonstrated that NIBP knockdown reduces colorectal cancer metastasis through down-regulation of canonical NF-kappaBeta signaling and suppression of ERK and JNK signaling. | 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.
Qin M, Zhang J, Xu C, Peng P, Tan L, Liu S, Huang J., Free PMC Article | 08/19/2017 |
| NIBP impacts on the expression levels of Ecadherin, CD44 and vimentin via the NFkappaB classical and alternative pathways. | NIBP impacts on the expression of E-cadherin, CD44 and vimentin in colon cancer via the NF-κB pathway.
Xu CY, Qin MB, Tan L, Liu SQ, Huang JA. | 02/18/2017 |
| NIBP reflects a higher metastatic potential of CRC tumors, and its mechanism of action may be through regulation of the classical NF-kappaB pathway and increased MMP-2 and MMP-9 expression | NIK- and IKKβ-binding protein promotes colon cancer metastasis by activating the classical NF-κB pathway and MMPs.
Qin M, Liu S, Li A, Xu C, Tan L, Huang J, Liu S. | 02/18/2017 |
| Data identified important roles of NIBP in promoting tumorigenesis via NFkappaBeta signaling. | Elevated NIBP/TRAPPC9 mediates tumorigenesis of cancer cells through NFκB signaling.
Zhang Y, Liu S, Wang H, Yang W, Li F, Yang F, Yu D, Ramsey FV, Tuszyski GP, Hu W., Free PMC Article | 03/5/2016 |
| Identification and construction of a 3D protein model of trafficking protein particle complex 9 (TRAPPC9), a potetnially interesting molecular target for the development of drug therapy against non syndromic mental retardation | Computational analysis of TRAPPC9: candidate gene for autosomal recessive non-syndromic mental retardation.
Khattak NA, Mir A. | 02/28/2015 |
| By detailed phenotypic analysis of our patients, and by critical literature review, we found that homozygous TRAPPC9 loss-of-function mutations cause a distinctive phenotype, characterized by peculiar facial appearance, obesity, hypotonia | TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype.
Marangi G, Leuzzi V, Manti F, Lattante S, Orteschi D, Pecile V, Neri G, Zollino M., Free PMC Article | 06/22/2013 |
| A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly. | A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.
Kakar N, Goebel I, Daud S, Nürnberg G, Agha N, Ahmad A, Nürnberg P, Kubisch C, Ahmad J, Borck G. | 04/27/2013 |
| Data suggest that TRAPPC9 serves to uncouple p150(Glued) from the COPII coat, and to relay the vesicle-dynactin interaction at the target membrane. | TRAPPC9 mediates the interaction between p150 and COPII vesicles at the target membrane.
Zong M, Satoh A, Yu MK, Siu KY, Ng WY, Chan HC, Tanner JA, Yu S., Free PMC Article | 07/14/2012 |
| Data show that a disease-causing mutation of TRAPPC2, D47Y, failed to interact with either TRAPPC9 or TRAPPC8, suggesting that aspartate 47 in TRAPPC2 is at or near the site of interaction with TRAPPC9 or TRAPPC8. | The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability.
Zong M, Wu XG, Chan CW, Choi MY, Chan HC, Tanner JA, Yu S., Free PMC Article | 02/18/2012 |
| Studies indicate that a truncation of TRAPPC9 leads to mental retardation. | TRAPP complexes in membrane traffic: convergence through a common Rab.
Barrowman J, Bhandari D, Reinisch K, Ferro-Novick S. | 11/27/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| TRAPPC9, encodes the NIK- and IKK-beta-binding protein, has a role in nonsyndromic autosomal-recessive mental retardation | Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.
Mir A, Kaufman L, Noor A, Motazacker MM, Jamil T, Azam M, Kahrizi K, Rafiq MA, Weksberg R, Nasr T, Naeem F, Tzschach A, Kuss AW, Ishak GE, Doherty D, Ropers HH, Barkovich AJ, Najmabadi H, Ayub M, Vincent JB., Free PMC Article | 01/21/2010 |
| TRAPPC9 has a role in brain development, possibly through its effect on NF-kappaB activation and protein trafficking in the postmitotic neurons of the cerebral cortex | A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly.
Mochida GH, Mahajnah M, Hill AD, Basel-Vanagaite L, Gleason D, Hill RS, Bodell A, Crosier M, Straussberg R, Walsh CA., Free PMC Article | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (3) articlesAssociation of genetic variants with hemorrhagic stroke in Japanese individuals.
Yoshida T, Kato K, Yokoi K, Oguri M, Watanabe S, Metoki N, Yoshida H, Satoh K, Aoyagi Y, Nozawa Y, Yamada Y. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.
Oguri M, Kato K, Yokoi K, Yoshida T, Watanabe S, Metoki N, Yoshida H, Satoh K, Aoyagi Y, Nozawa Y, Yamada Y. Association of gene polymorphisms with chronic kidney disease in Japanese individuals.
Yoshida T, Kato K, Yokoi K, Oguri M, Watanabe S, Metoki N, Yoshida H, Satoh K, Aoyagi Y, Nozawa Y, Yamada Y. | 12/2/2009 |