Citations for
1ECM1, HCMU
Treatment of lipoid proteinosis with acitretin in two patients from two unrelated Chinese families with novel nonsense mutations of the ECM1 gene.
Luo XY, Li Q, Tan Q, Yang H, Xiang J, Miao JK, Wang H.
J Dermatol Dermatol. 2016 Jan 18. doi: 10.1111/1346-8138.13261. [Epub ahead of print] 2016
2ECM1, HCMU
Lipoid Proteinosis Resulting from a Large Homozygous Deletion Affecting Part of the ECM1 Gene and Adjacent Long Non-coding RNA.
Lee MY, Wang HJ, Han Y, Zhou Y, Zhao JH, Duo LN, Feng C, Hua H, Liu HW, Lin ZM, Yang Y.
Acta Derm Venereol 95(5):608-10. doi: 10.2340/00015555-2036. No abstract available. 2015
3ECM1, HCMU
Familial Moniliform Blepharosis: Clinical, Histopathological and Genetic Correlation.
Ranjan P, Mishra D, Plesec T, Pratap VB, Singh AD.
Ophthalmic Genet 36(2):160-4. doi: 10.3109/13816810.2013.838275. Epub 2013 Sep 30. 2015
4HCMU, ECM1, FBN1
Extracellular matrix protein 1 interacts with the domain III of fibulin-1C and 1D variants through its central tandem repeat 2.
Fujimoto N, Terlizzi J, Brittingham R, Fertala A, McGrath JA, Uitto J.
Biochem Biophys Res Commun 333(4):1327-33. 2005
5ECM1,HCMU
A novel mutation of the extracellular matrix protein 1 gene (ECM1) in a patient with lipoid proteinosis (Urbach-Wiethe disease) from Sicily.
Lupo I, Cefalu AB, Bongiorno MR, Daniele O, Valenti V, Noto D, Camarda R, Savettieri G, Arico M, Averna MR.
Br J Dermatol 153(5):1019-22. 2005
6ECM1, HCMU
Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).
Hamada T, McLean WH, Ramsay M, Ashton GH, Nanda A, Jenkins T, Edelstein I, South AP, Bleck O, Wessagowit V, Mallipeddi R, Orchard GE, Wan H, Dopping-Hepenstal PJ, Mellerio JE, Whittock NV, Munro CS, van Steensel MA, Steijlen PM, Ni J, Zhang L, Hashimoto T, Eady RA, McGrath JA.
Hum Mol Genet 11(7):833-40. 2002