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Results: 1 to 20 of 107

Similar articles for PubMed (Select 18176953)

1.

Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function.

Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, Karkera J, Mahurkar S, Lisch W, Dupps WJ Jr, White PS, Winters RS, Kim C, Rapuano CJ, Sutphin J, Reidy J, Hu FR, Lu da W, Ebenezer N, Nickerson ML.

Am J Med Genet A. 2008 Feb 1;146A(3):271-83. doi: 10.1002/ajmg.a.32201.

PMID:
18176953
2.

Mutation analysis of two families with inherited congenital cataracts.

Liang C, Liang H, Yang Y, Ping L, Jie Q.

Mol Med Rep. 2015 May 22. doi: 10.3892/mmr.2015.3819. [Epub ahead of print]

PMID:
26004348
3.

Functional characterization of the vitamin K2 biosynthetic enzyme UBIAD1.

Hirota Y, Nakagawa K, Sawada N, Okuda N, Suhara Y, Uchino Y, Kimoto T, Funahashi N, Kamao M, Tsugawa N, Okano T.

PLoS One. 2015 Apr 15;10(4):e0125737. doi: 10.1371/journal.pone.0125737. eCollection 2015.

4.

The prenyltransferase UBIAD1 is the target of geranylgeraniol in degradation of HMG CoA reductase.

Schumacher MM, Elsabrouty R, Seemann J, Jo Y, DeBose-Boyd RA.

Elife. 2015 Mar 5;4. doi: 10.7554/eLife.05560.

5.

Identification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti's crystalline corneoretinal dystrophy.

Meng XH, Guo H, Xu HW, Li QY, Jin X, Bai Y, Li SY, Yin ZQ.

Mol Vis. 2014 Dec 31;20:1806-14. eCollection 2014.

6.

Identification of six novel mutations in ZEB1 and description of the associated phenotypes in patients with posterior polymorphous corneal dystrophy 3.

Evans CJ, Liskova P, Dudakova L, Hrabcikova P, Horinek A, Jirsova K, Filipec M, Hardcastle AJ, Davidson AE, Tuft SJ.

Ann Hum Genet. 2015 Jan;79(1):1-9. doi: 10.1111/ahg.12090. Epub 2014 Dec 1.

PMID:
25441224
7.

Structure of a membrane-embedded prenyltransferase homologous to UBIAD1.

Huang H, Levin EJ, Liu S, Bai Y, Lockless SW, Zhou M.

PLoS Biol. 2014 Jul 22;12(7):e1001911. doi: 10.1371/journal.pbio.1001911. eCollection 2014 Jul.

8.

Phenotype-genotype correlation in patients with Schnyder corneal dystrophy.

Nowinska AK, Wylegala E, Teper S, Lyssek-Boron A, Aragona P, Roszkowska AM, Micali A, Pisani A, Puzzolo D.

Cornea. 2014 May;33(5):497-503. doi: 10.1097/ICO.0000000000000090.

PMID:
24608252
9.

Classification of posterior polymorphous corneal dystrophy as a corneal ectatic disorder following confirmation of associated significant corneal steepening.

Aldave AJ, Ann LB, Frausto RF, Nguyen CK, Yu F, Raber IM.

JAMA Ophthalmol. 2013 Dec;131(12):1583-90. doi: 10.1001/jamaophthalmol.2013.5036.

10.

X-linked Megalocornea Associated with the Novel CHRDL1 Gene Mutation p.(Pro56Leu*8).

Han J, Young JW, Frausto RF, Isenberg SJ, Aldave AJ.

Ophthalmic Genet. 2015 Jun;36(2):145-8. doi: 10.3109/13816810.2013.837187. Epub 2013 Sep 27.

PMID:
24073597
11.

Mutation analysis of the SLC4A11 gene in Indian families with congenital hereditary endothelial dystrophy 2 and a review of the literature.

Kodaganur SG, Kapoor S, Veerappa AM, Tontanahal SJ, Sarda A, Yathish S, Prakash DR, Kumar A.

Mol Vis. 2013 Aug 2;19:1694-706. Print 2013. Review.

12.

Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation.

Lechner J, Dash DP, Muszynska D, Hosseini M, Segev F, George S, Frazer DG, Moore JE, Kaye SB, Young T, Simpson DA, Churchill AJ, Héon E, Willoughby CE.

Invest Ophthalmol Vis Sci. 2013 May 3;54(5):3215-23. doi: 10.1167/iovs.13-11781.

PMID:
23599324
13.

Genotype-phenotype analysis of Bietti crystalline dystrophy in a family with the CYP4V2 Ile111Thr mutation.

García-García GP, López-Garrido MP, Martínez-Rubio M, Moya-Moya MA, Belmonte-Martínez J, Escribano J.

Cornea. 2013 Jul;32(7):1002-8. doi: 10.1097/ICO.0b013e31828a27bc.

PMID:
23538635
14.

[Mutation in the UBIAD1 gene of a Chinese family with Schnyder crystal corneal dystrophy].

Tao SY, Wang LY, Yu XF, Niu C, Pang CJ.

Zhonghua Yi Xue Za Zhi. 2012 Dec 4;92(45):3215-7. Chinese.

PMID:
23328470
15.

The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymes.

Nickerson ML, Bosley AD, Weiss JS, Kostiha BN, Hirota Y, Brandt W, Esposito D, Kinoshita S, Wessjohann L, Morham SG, Andresson T, Kruth HS, Okano T, Dean M.

Hum Mutat. 2013 Feb;34(2):317-29. doi: 10.1002/humu.22230. Epub 2012 Nov 27. Erratum in: Hum Mutat. 2013 Jul;34(7):1046.

PMID:
23169578
16.

TGFBI gene mutations in a Korean population with corneal dystrophy.

Cho KJ, Mok JW, Na KS, Rho CR, Byun YS, Hwang HS, Hwang KY, Joo CK.

Mol Vis. 2012;18:2012-21. Epub 2012 Jul 20.

17.

Extremely varied phenotypes in granular corneal dystrophy type 2 heterozygotes.

Han KE, Choi SI, Chung WS, Jung SH, Katsanis N, Kim TI, Kim EK.

Mol Vis. 2012;18:1755-62. Epub 2012 Jun 27.

18.

Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: report on a novel mutation.

Haddad NM, Waked N, Bejjani R, Khoueir Z, Chouery E, Corbani S, Mégarbané A.

Mol Vis. 2012;18:1182-8. Epub 2012 May 5.

19.

Phenotype-genotype correlations in patients with TGFBI-linked corneal dystrophies in Taiwan.

Hou YC, Wang IJ, Hsiao CH, Chen WL, Hu FR.

Mol Vis. 2012;18:362-71. Epub 2012 Feb 7.

20.

An Arg124His mutation in TGFBI associated to Avellino corneal dystrophy in a Chinese pedigree.

Gu Z, Zhao P, He G, Wan C, Ma G, Yu L, Zhang J, Feng G, He L, Gao L.

Mol Vis. 2011;17:3200-7. Epub 2011 Dec 13.

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