Similar articles for PMID: 15523639

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1

A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus.

Yildirim-Toruner C, Subramanian K, El Manjra L, Chen E, Goldstein S, Vitale E. Yildirim-Toruner C, et al. Am J Med Genet A. 2004 Dec 15;131(3):281-6. doi: 10.1002/ajmg.a.30390. Am J Med Genet A. 2004. PMID: 15523639

2

Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome.

Fang J, Dagenais SL, Erickson RP, Arlt MF, Glynn MW, Gorski JL, Seaver LH, Glover TW. Fang J, et al. Am J Hum Genet. 2000 Dec;67(6):1382-8. doi: 10.1086/316915. Epub 2000 Nov 8. Am J Hum Genet. 2000. PMID: 11078474 Free PMC article.

3

Mutation of the FOXC2 gene in familial distichiasis.

Brooks BP, Dagenais SL, Nelson CC, Glynn MW, Caulder MS, Downs CA, Glover TW. Brooks BP, et al. J AAPOS. 2003 Oct;7(5):354-7. doi: 10.1016/s1091-8531(03)00144-7. J AAPOS. 2003. PMID: 14566319

4

FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate.

Bahuau M, Houdayer C, Tredano M, Soupre V, Couderc R, Vazquez MP. Bahuau M, et al. Clin Genet. 2002 Dec;62(6):470-3. doi: 10.1034/j.1399-0004.2002.620608.x. Clin Genet. 2002. PMID: 12485195

5

Lymphedema-distichiasis syndrome and FOXC2 gene mutation.

Traboulsi EI, Al-Khayer K, Matsumoto M, Kimak MA, Crowe S, Wilson SE, Finegold DN, Ferrell RE, Meisler DM. Traboulsi EI, et al. Am J Ophthalmol. 2002 Oct;134(4):592-6. doi: 10.1016/s0002-9394(02)01642-2. Am J Ophthalmol. 2002. PMID: 12383817

6

Novel mutation in the FOXC2 gene in three generations of a family with lymphoedema-distichiasis syndrome.

Sutkowska E, Gil J, Stembalska A, Hill-Bator A, Szuba A. Sutkowska E, et al. Gene. 2012 Apr 25;498(1):96-9. doi: 10.1016/j.gene.2012.01.098. Epub 2012 Feb 14. Gene. 2012. PMID: 22349027

7

FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndrome.

Kriederman BM, Myloyde TL, Witte MH, Dagenais SL, Witte CL, Rennels M, Bernas MJ, Lynch MT, Erickson RP, Caulder MS, Miura N, Jackson D, Brooks BP, Glover TW. Kriederman BM, et al. Hum Mol Genet. 2003 May 15;12(10):1179-85. doi: 10.1093/hmg/ddg123. Hum Mol Genet. 2003. PMID: 12719382

8

Truncating mutations in FOXC2 cause multiple lymphedema syndromes.

Finegold DN, Kimak MA, Lawrence EC, Levinson KL, Cherniske EM, Pober BR, Dunlap JW, Ferrell RE. Finegold DN, et al. Hum Mol Genet. 2001 May 15;10(11):1185-9. doi: 10.1093/hmg/10.11.1185. Hum Mol Genet. 2001. PMID: 11371511

9

Novel FOXC2 Mutation in Hereditary Distichiasis Impairs DNA-Binding Activity and Transcriptional Activation.

Zhang L, He J, Han B, Lu L, Fan J, Zhang H, Ge S, Zhou Y, Jia R, Fan X. Zhang L, et al. Int J Biol Sci. 2016 Aug 6;12(9):1114-20. doi: 10.7150/ijbs.13774. eCollection 2016. Int J Biol Sci. 2016. PMID: 27570485 Free PMC article.

10

A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation.

Fabretto A, Shardlow A, Faletra F, Lepore L, Hladnik U, Gasparini P. Fabretto A, et al. Ophthalmic Genet. 2010 Jun;31(2):98-100. doi: 10.3109/13816811003620517. Ophthalmic Genet. 2010. PMID: 20450314

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