Citations for
1GLMN, GVM
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.
Int J Dermatol 53(11):1362-4. doi: 10.1111/ijd.12588. Epub 2014 Jun 25. 2014
2GLMN, UPD1
Somatic uniparental isodisomy explains multifocality of glomuvenous malformations.
Amyere M, Aerts V, Brouillard P, McIntyre BA, Duhoux FP, Wassef M, Enjolras O, Mulliken JB, Devuyst O, Antoine-Poirel H, Boon LM, Vikkula M.
Am J Hum Genet 92(2):188-96. doi: 10.1016/j.ajhg.2012.12.017. Epub 2013 Jan 31. 2013
3GLMN, GVM
Genotypes and phenotypes of 162 families with a glomulin mutation.
Brouillard P, Boon LM, Revencu N, Berg J, Dompmartin A, Dubois J, Garzon M, Holden S, Kangesu L, Labrèze C, Lynch SA, McKeown C, Meskauskas R, Quere I, Syed S, Vabres P, Wassef M, Mulliken JB, Vikkula M; GVM Study Group.
Mol Syndromol 4(4):157-64. doi: 10.1159/000348675. Epub 2013 Mar 26. 2013
4DEL16Q243, FOXC2, GLMN
Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation.
Butler MG, Dagenais SL, Garcia-Perez JL, Brouillard P, Vikkula M, Strouse P, Innis JW, Glover TW.
Am J Med Genet A 158A(4):839-49. doi: 10.1002/ajmg.a.35229. Epub 2012 Mar 9. 2012
5CUL1, GLMN, RBX1
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.
Mol Cell 47(3):371-82. doi: 10.1016/j.molcel.2012.05.044. Epub 2012 Jun 28. 2012
6FBXW7, GLMN, RBX1
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.
Mol Cell 46(1):67-78. doi: 10.1016/j.molcel.2012.02.005. Epub 2012 Mar 8. 2012
7GLMN, GVM
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.
Exp Dermatol 20(12):1032-4. doi: 10.1111/j.1600-0625.2011.01387.x. 2011
8GLMN
Glomulin is predominantly expressed in vascular smooth muscle cells in the embryonic and adult mouse.
McIntyre BA, Brouillard P, Aerts V, Gutierrez-Roelens I, Vikkula M.
Gene Expr Patterns 4(3):351-8. 2004
9GLMN
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.
Proc Natl Acad Sci U S A 100(5):2444-9. Epub 2003 Feb 25. 2003
10GVM, GLMN
Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations (glomangiomas).
Brouillard P, Boon LM, Mulliken JB, Enjolras O, Ghassibe M, Warman ML, Tan OT, Olsen BR, Vikkula M.
Am J Hum Genet 70(4):866-74. Epub 2002 Feb 13. 2002