Similar articles for PMID: 21791056

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1

Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family.

Nasir M, Latif A, Ajmal M, Qamar R, Naeem M, Hameed A. Nasir M, et al. Diagn Pathol. 2011 Jul 26;6:69. doi: 10.1186/1746-1596-6-69. Diagn Pathol. 2011. PMID: 21791056 Free PMC article.

2

Identification of recurrent c.742G>T nonsense mutation in ECM1 in Pakistani families suffering from lipoid proteinosis.

Nasir M, Rahman SB, Sieber CM, Mir A, Latif A, Ahmad N, Malik SA, Hameed A. Nasir M, et al. Mol Biol Rep. 2014;41(4):2085-92. doi: 10.1007/s11033-014-3057-1. Epub 2014 Jan 12. Mol Biol Rep. 2014. PMID: 24413997

3

Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.

Hamada T, Wessagowit V, South AP, Ashton GH, Chan I, Oyama N, Siriwattana A, Jewhasuchin P, Charuwichitratana S, Thappa DM, Jeevankumar B, Lenane P, Krafchik B, Kulthanan K, Shimizu H, Kaya TI, Erdal ME, Paradisi M, Paller AS, Seishima M, Hashimoto T, McGrath JA. Hamada T, et al. J Invest Dermatol. 2003 Mar;120(3):345-50. doi: 10.1046/j.1523-1747.2003.12073.x. J Invest Dermatol. 2003. PMID: 12603844 Free article.

4

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, Aricò M, Averna MR. Lupo I, et al. Br J Dermatol. 2005 Nov;153(5):1019-22. doi: 10.1111/j.1365-2133.2005.06842.x. Br J Dermatol. 2005. PMID: 16225617

5

Molecular basis of lipoid proteinosis in a Libyan family.

Chan I, El-Zurghany A, Zendah B, Benghazil M, Oyama N, Hamada T, McGrath JA. Chan I, et al. Clin Exp Dermatol. 2003 Sep;28(5):545-8. doi: 10.1046/j.1365-2230.2003.01341.x. Clin Exp Dermatol. 2003. PMID: 12950350

6

Molecular and neurological characterizations of three Saudi families with lipoid proteinosis.

Salih MA, Abu-Amero KK, Alrasheed S, Alorainy IA, Liu L, McGrath JA, Van Maldergem L, Al-Faky YH, AlSuhaibani AH, Oystreck DT, Bosley TM. Salih MA, et al. BMC Med Genet. 2011 Feb 24;12:31. doi: 10.1186/1471-2350-12-31. BMC Med Genet. 2011. PMID: 21349189 Free PMC article.

7

A novel missense mutation of the ECM1 gene in a Chinese patient with lipoid proteinosis.

Liu W, Xu W, Yang X, Lian S. Liu W, et al. Clin Exp Dermatol. 2012 Jan;37(1):28-30. doi: 10.1111/j.1365-2230.2011.04153.x. Clin Exp Dermatol. 2012. PMID: 22182433

8

Lipoid proteinosis: A clinical and molecular study in Egyptian patients.

Afifi HH, Amr KS, Tosson AMS, Hassan TA, Mehrez MI, El-Kamah GY. Afifi HH, et al. Gene. 2017 Sep 10;628:308-314. doi: 10.1016/j.gene.2017.07.026. Epub 2017 Jul 15. Gene. 2017. PMID: 28720532

9

Lipoid proteinosis presenting with an unusual nonsense Q32X mutation in exon 2 of the extracellular matrix protein 1 gene.

Chelvan HT, Narasimhan M, Shankaran Subramanian A, Subramaniam S. Chelvan HT, et al. Australas J Dermatol. 2012 Nov;53(4):e79-82. doi: 10.1111/j.1440-0960.2011.00803.x. Epub 2011 Aug 18. Australas J Dermatol. 2012. PMID: 23157792

10

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. Luo XY, et al. J Dermatol. 2016 Jul;43(7):804-7. doi: 10.1111/1346-8138.13261. Epub 2016 Jan 18. J Dermatol. 2016. PMID: 26778481

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