| Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A. | Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A.
Upadhyai P, Radhakrishnan P, Guleria VS, Kausthubham N, Nayak SS, Superti-Furga A, Girisha KM. | 04/9/2022 |
| Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants. | Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants.
Del Pino M, Sanchez-Soler MJ, Parrón-Pajares M, Aza-Carmona M, Heath KE, Fano V. | 08/7/2021 |
| Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A. | Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A.
Medina CTN, Sandoval R, Oliveira G, da Costa Silveira K, Cavalcanti DP, Pogue R. | 02/6/2021 |
| A common pathogenic mechanism in GMAP-210- and LBR-related diseases attributable to defective secretory trafficking at the Golgi apparatus. | A common pathomechanism in GMAP-210- and LBR-related diseases.
Wehrle A, Witkos TM, Schneider JC, Hoppmann A, Behringer S, Köttgen A, Elting M, Spranger J, Lowe M, Lausch E., Free PMC Article | 11/30/2019 |
| Decreased expressions of TRIP11, THRA, and THRB correlated with poor survival of renal cell cancer patients. Expressions of TRIP11 and HIF-1beta correlated with tumor grades. | The significance of TRIP11 and T3 signalling pathway in renal cancer progression and survival of patients.
Popławski P, Piekiełko-Witkowska A, Nauman A. | 07/14/2018 |
| The authors conclude that the Golgi uses GMAP-210 as a filter to select transport vesicles according to their size and bulk lipid composition. | A filter at the entrance of the Golgi that selects vesicles according to size and bulk lipid composition.
Magdeleine M, Gautier R, Gounon P, Barelli H, Vanni S, Antonny B., Free PMC Article | 11/18/2017 |
| role for GMAP-210 in several trafficking steps at the ER-Golgi interface | The golgin GMAP-210 is required for efficient membrane trafficking in the early secretory pathway.
Roboti P, Sato K, Lowe M., Free PMC Article | 01/16/2016 |
| GMAP-210 has a role for membrane tethering in maintaining Golgi structure and a role for Rab2 binding in linking tethering with downstream docking and fusion events at the Golgi apparatus. | Coupling of vesicle tethering and Rab binding is required for in vivo functionality of the golgin GMAP-210.
Sato K, Roboti P, Mironov AA, Lowe M., Free PMC Article | 10/3/2015 |
| Rb is present in HIF1alpha-ARNT/HIF1beta transcriptional complexes associated with TRIP230 as determined by co-immuno-precipitation, GST-pull-down and ChIP assays | A TRIP230-retinoblastoma protein complex regulates hypoxia-inducible factor-1α-mediated transcription and cancer cell invasion.
Labrecque MP, Takhar MK, Jagdeo JM, Tam KJ, Chiu C, Wang TY, Prefontaine GG, Cox ME, Beischlag TV., Free PMC Article | 02/7/2015 |
| identification of a mutation affecting GMAP-210 in mice, and then in humans, as the cause of a lethal skeletal dysplasia | Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.
Smits P, Bolton AD, Funari V, Hong M, Boyden ED, Lu L, Manning DK, Dwyer ND, Moran JL, Prysak M, Merriman B, Nelson SF, Bonafé L, Superti-Furga A, Ikegawa S, Krakow D, Cohn DH, Kirchhausen T, Warman ML, Beier DR., Free PMC Article | 02/1/2010 |
| Localisation of GMAP-210 (TRIP11) to Golgi is the result of the combined action of two domains (N- and C-terminal) that recognize different sub-regions of the Golgi apparatus. | Golgi localisation of GMAP210 requires two distinct cis-membrane binding mechanisms.
Cardenas J, Rivero S, Goud B, Bornens M, Rios RM., Free PMC Article | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (3) articlesThe role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
Zhao J, Li M, Bradfield JP, Zhang H, Mentch FD, Wang K, Sleiman PM, Kim CE, Glessner JT, Hou C, Keating BJ, Thomas KA, Garris ML, Deliard S, Frackelton EC, Otieno FG, Chiavacci RM, Berkowitz RI, Hakonarson H, Grant SF. The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors.
Landa I, Ruiz-Llorente S, Montero-Conde C, Inglada-Pérez L, Schiavi F, Leskelä S, Pita G, Milne R, Maravall J, Ramos I, Andía V, Rodríguez-Poyo P, Jara-Albarrán A, Meoro A, del Peso C, Arribas L, Iglesias P, Caballero J, Serrano J, Picó A, Pomares F, Giménez G, López-Mondéjar P, Castello R, Merante-Boschin I, Pelizzo MR, Mauricio D, Opocher G, Rodríguez-Antona C, González-Neira A, Matías-Guiu X, Santisteban P, Robledo M. Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966.
Sovio U, Bennett AJ, Millwood IY, Molitor J, O'Reilly PF, Timpson NJ, Kaakinen M, Laitinen J, Haukka J, Pillas D, Tzoulaki I, Molitor J, Hoggart C, Coin LJ, Whittaker J, Pouta A, Hartikainen AL, Freimer NB, Widen E, Peltonen L, Elliott P, McCarthy MI, Jarvelin MR. | 03/25/2009 |
| the attachment of golgin GMAP-210 to lipid membranes | Asymmetric tethering of flat and curved lipid membranes by a golgin.
Drin G, Morello V, Casella JF, Gounon P, Antonny B. | 01/21/2010 |
| demonstrate that the thyroid hormone receptor/retinoblastoma-interacting protein 230 (TRIP230) interacts directly with aryl hydrocarbon receptor nuclear translocator(ARNT) and is essential for both hypoxic and TCDD-mediated transcriptional responses | Recruitment of thyroid hormone receptor/retinoblastoma-interacting protein 230 by the aryl hydrocarbon receptor nuclear translocator is required for the transcriptional response to both dioxin and hypoxia.
Beischlag TV, Taylor RT, Rose DW, Yoon D, Chen Y, Lee WH, Rosenfeld MG, Hankinson O. | 01/21/2010 |
| The overexpression of this protein blocks anterograde and retrograde transport between the endoplasmic reticulum and the Golgi apparatus. | The overexpression of GMAP-210 blocks anterograde and retrograde transport between the ER and the Golgi apparatus.
Pernet-Gallay K, Antony C, Johannes L, Bornens M, Goud B, Rios RM. | 01/21/2010 |