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Items: 1 to 20 of 96

1.

A major mutation of KIF21A associated with congenital fibrosis of the extraocular muscles type 1 (CFEOM1) enhances translocation of Kank1 to the membrane.

Kakinuma N, Kiyama R.

Biochem Biophys Res Commun. 2009 Sep 4;386(4):639-44. doi: 10.1016/j.bbrc.2009.06.109. Epub 2009 Jun 24.

PMID:
19559006
2.
3.

Congential fibrosis of the extraocular muscles type I (CFEOM1) on the Arabian Peninsula.

Khan AO, Khalil DS, Al-Tassan NA.

Ophthalmic Genet. 2008 Mar;29(1):25-8. doi: 10.1080/13816810701850058.

PMID:
18363169
4.

Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3.

Lu S, Zhao C, Zhao K, Li N, Larsson C.

Arch Ophthalmol. 2008 Mar;126(3):388-94. doi: 10.1001/archopht.126.3.388.

PMID:
18332320
5.

Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles.

Shimizu S, Okinaga A, Maruo T.

Jpn J Ophthalmol. 2005 Nov-Dec;49(6):443-7.

PMID:
16365788
6.

Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families.

Khan AO, Shinwari J, Omar A, Al-Sharif L, Khalil DS, Alanazi M, Al-Amri A, Al Tassan N.

Mol Vis. 2011 Jan 20;17:218-24.

7.

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).

Yamada K, Andrews C, Chan WM, McKeown CA, Magli A, de Berardinis T, Loewenstein A, Lazar M, O'Keefe M, Letson R, London A, Ruttum M, Matsumoto N, Saito N, Morris L, Del Monte M, Johnson RH, Uyama E, Houtman WA, de Vries B, Carlow TJ, Hart BL, Krawiecki N, Shoffner J, Vogel MC, Katowitz J, Goldstein SM, Levin AV, Sener EC, Ozturk BT, Akarsu AN, Brodsky MC, Hanisch F, Cruse RP, Zubcov AA, Robb RM, Roggenkäemper P, Gottlob I, Kowal L, Battu R, Traboulsi EI, Franceschini P, Newlin A, Demer JL, Engle EC.

Nat Genet. 2003 Dec;35(4):318-21. Epub 2003 Nov 2.

PMID:
14595441
8.

Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).

Yamada K, Chan WM, Andrews C, Bosley TM, Sener EC, Zwaan JT, Mullaney PB, Oztürk BT, Akarsu AN, Sabol LJ, Demer JL, Sullivan TJ, Gottlob I, Roggenkäemper P, Mackey DA, De Uzcategui CE, Uzcategui N, Ben-Zeev B, Traboulsi EI, Magli A, de Berardinis T, Gagliardi V, Awasthi-Patney S, Vogel MC, Rizzo JF 3rd, Engle EC.

Invest Ophthalmol Vis Sci. 2004 Jul;45(7):2218-23.

PMID:
15223798
9.

KIF21A novel deletion and recurrent mutation in patients with congenital fibrosis of the extraocular muscles-1.

Wang P, Li S, Xiao X, Guo X, Zhang Q.

Int J Mol Med. 2011 Dec;28(6):973-5. doi: 10.3892/ijmm.2011.759. Epub 2011 Jul 26.

PMID:
21805025
10.

CFEOM1-associated kinesin KIF21A is a cortical microtubule growth inhibitor.

van der Vaart B, van Riel WE, Doodhi H, Kevenaar JT, Katrukha EA, Gumy L, Bouchet BP, Grigoriev I, Spangler SA, Yu KL, Wulf PS, Wu J, Lansbergen G, van Battum EY, Pasterkamp RJ, Mimori-Kiyosue Y, Demmers J, Olieric N, Maly IV, Hoogenraad CC, Akhmanova A.

Dev Cell. 2013 Oct 28;27(2):145-160. doi: 10.1016/j.devcel.2013.09.010. Epub 2013 Oct 10.

11.

KIF21A variant R954W in familial or sporadic cases of CFEOM1.

Rudolph G, Nentwich M, Hellebrand H, Pollack K, Gordes R, Bau V, Kampik A, Meindl A.

Eur J Ophthalmol. 2009 Jul-Aug;19(4):667-74.

PMID:
19551685
12.

A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon.

Yamada K, Hunter DG, Andrews C, Engle EC.

Arch Ophthalmol. 2005 Sep;123(9):1254-9. Review.

PMID:
16157808
13.

Congenital fibrosis of the extraocular muscles.

Heidary G, Engle EC, Hunter DG.

Semin Ophthalmol. 2008 Jan-Feb;23(1):3-8. doi: 10.1080/08820530701745181. Review.

PMID:
18214786
14.

Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).

Desai J, Velo MP, Yamada K, Overman LM, Engle EC.

Gene Expr Patterns. 2012 May-Jun;12(5-6):180-8. doi: 10.1016/j.gep.2012.03.003. Epub 2012 Mar 23.

15.

KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM).

Yang X, Yamada K, Katz B, Guan H, Wang L, Andrews C, Zhao G, Engle EC, Chen H, Tong Z, Kong J, Hu C, Kong Q, Fan G, Wang Z, Ning M, Zhang S, Xu J, Zhang K.

Mol Vis. 2010 Oct 13;16:2062-70.

16.

KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3.

Chen J, Ye Q, Deng D, Yan J, Lin H, Shen T, Lin Y.

Mol Med Rep. 2016 Oct;14(4):3145-51. doi: 10.3892/mmr.2016.5624. Epub 2016 Aug 11.

17.

Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.

Chan WM, Andrews C, Dragan L, Fredrick D, Armstrong L, Lyons C, Geraghty MT, Hunter DG, Yazdani A, Traboulsi EI, Pott JW, Gutowski NJ, Ellard S, Young E, Hanisch F, Koc F, Schnall B, Engle EC.

BMC Genet. 2007 May 18;8:26.

18.

Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients.

Tiab L, d'Allèves Manzi V, Borruat FX, Munier F, Schorderet D.

Ophthalmic Genet. 2004 Dec;25(4):241-6.

PMID:
15621876
19.

Mutations in KIF21A are responsible for CFEOM1 worldwide.

Traboulsi EI, Engle EC.

Ophthalmic Genet. 2004 Dec;25(4):237-9. No abstract available.

PMID:
15621875
20.

Clinical characteristics of a KIF21A mutation in a Chinese family with congenital fibrosis of the extraocular muscles type 1.

Chen H, Liu T, Zeng Z, Wang Y, Lin Y, Cheng L, Pan Q, Gu F, Song Z, Zhang Z.

Medicine (Baltimore). 2017 Sep;96(38):e8068. doi: 10.1097/MD.0000000000008068.

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