| Loss-of-function variants in GLMN are associated with generalized skin hyperpigmentation with or without glomuvenous malformation. | Loss-of-function variants in GLMN are associated with generalized skin hyperpigmentation with or without glomuvenous malformation.
Jiang X, Yang C, Wang Z, Liang L, Gong Z, Huang S, Xu Z, Zhang B, Pei X, Cai L, Wang H, Lin Z. | 07/10/2024 |
| GLMN causing vascular malformations: the clinical and genetic differentiation of cutaneous venous malformations. | GLMN causing vascular malformations: the clinical and genetic differentiation of cutaneous venous malformations.
McMahon MH, Tahir N, Balasubramanian M., Free PMC Article | 08/27/2022 |
| In summary, we present a case of congenital plaquetype GVM and a case of familial disseminated cutaneous GVM, both with the same glomulin gene mutation (c.157_161delAAGAA), but with different clinical expression. | Glomulin mutation and glomuvenous malformations: two case reports with the same mutation but different phenotypes.
Collantes-Rodríguez C, De La Varga-Martínez R, Ossorio-García L, Villegas-Romero I, Jiménez-Gallo D, Mora-López F, Linares-Barrios M. | 03/30/2019 |
| Our report contributes to document the possible association between the c.395-1G>C mutation of GLMN gene and glomuvenous malformations. | Incomplete penetrance of GLMN gene c.395-1G>C mutation in a family with glomuvenous malformations.
Borroni RG, Grassi S, Diegoli M, Grasso M, Arbustini E. | 07/25/2015 |
| FAP48 adipocyte expression plays a key role in HIV-associated lipodystrophy. | Role of FAP48 in HIV-associated lipodystrophy.
Esposito V, Manente L, Lucariello A, Perna A, Viglietti R, Gargiulo M, Parrella R, Parrella G, Baldi A, De Luca A, Chirianni A. | 02/9/2013 |
| Structural and biochemical analyses reveal that GLMN adopts a HEAT-like repeat fold that tightly binds the E2-interacting surface of RBX1, inhibiting CRL-mediated chain formation by the E2 CDC34. | Structure of a glomulin-RBX1-CUL1 complex: inhibition of a RING E3 ligase through masking of its E2-binding surface.
Duda DM, Olszewski JL, Tron AE, Hammel M, Lambert LJ, Waddell MB, Mittag T, DeCaprio JA, Schulman BA., Free PMC Article | 10/27/2012 |
| These data identify glomulin as a permissivity factor for VACV infection and as a potential therapeutic target for inhibition of vaccinia virus (VACV) infection. | Glomulin: a permissivity factor for vaccinia virus infection.
Rahbar R, Rogers E, Murooka T, Kislinger T, Fish EN. | 07/14/2012 |
| The glomuvenous malformation protein Glomulin binds Rbx1 and regulates cullin-1 RING ligase-mediated turnover of Fbw7. | The glomuvenous malformation protein Glomulin binds Rbx1 and regulates cullin RING ligase-mediated turnover of Fbw7.
Tron AE, Arai T, Duda DM, Kuwabara H, Olszewski JL, Fujiwara Y, Bahamon BN, Signoretti S, Schulman BA, DeCaprio JA., Free PMC Article | 06/16/2012 |
| A novel GLMN mutation is described in an Italian family with glomuvenous malformations in which some members present with the less commonly observed phenotype of solitary lesions. | A novel mutation of the glomulin gene in an Italian family with autosomal dominant cutaneous glomuvenous malformations.
Borroni RG, Narula N, Diegoli M, Grasso M, Concardi M, Rosso R, Cerica A, Brazzelli V, Arbustini E. | 05/12/2012 |
| FAP48-FKBP complexes increase IL2 production | The FKBP-associated protein FAP48 is an antiproliferative molecule and a player in T cell activation that increases IL2 synthesis.
Krummrei U, Baulieu EE, Chambraud B., Free PMC Article | 01/21/2010 |
| Describes the characterizations of 14 different mutations in the glomulin gene in patients with glomuvenous malformations. | Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas").
Brouillard P, Boon LM, Mulliken JB, Enjolras O, Ghassibé M, Warman ML, Tan OT, Olsen BR, Vikkula M., Free PMC Article | 01/21/2010 |