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