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Items: 1 to 20 of 108

1.

A novel mutation for disseminated superficial actinic porokeratosis in the MVK gene.

Zhou MS, Xie HF, Chen ML, Jian D, Liu FF, Chen X, Shen N, Si N, Li J.

Br J Dermatol. 2014 Aug;171(2):427-9. doi: 10.1111/bjd.12947. Epub 2014 Jul 23. No abstract available.

PMID:
25053464
2.

Detection of a novel missense mutation in the mevalonate kinase gene in one Chinese family with DSAP.

Lu WS, Zheng XD, Yao XH, Zhang LF, Hu B, Lu YJ.

Int J Clin Exp Pathol. 2014 Jan 15;7(2):728-32. eCollection 2014.

3.

A novel MVK missense mutation in one Chinese family with disseminated superficial actinic porokeratosis.

Lu WS, Zheng XD, Yao XH, Zhang LF, Wang MQ, Jiang FX, Zhang SP, Hu B.

Mol Biol Rep. 2014 Nov;41(11):7229-33. doi: 10.1007/s11033-014-3609-4. Epub 2014 Jul 25.

PMID:
25059119
4.

Mutation analysis of the MVK gene in Chinese patients with disseminated superficial actinic porokeratosis.

Dai J, Chen M, Fu X, Yu Y, Shi Z, Yu C, Wang G, Tian H, Liu H, Zhang F.

J Dermatol Sci. 2013 Dec;72(3):320-2. doi: 10.1016/j.jdermsci.2013.07.011. Epub 2013 Aug 8. No abstract available.

PMID:
24008101
5.

Identification of three novel frameshift mutations of the MVK gene in four Chinese families with disseminated superficial actinic porokeratosis.

Zhou Y, Liu J, Fu X, Yu Y, Shi B, Yu G, Shi Z, Wu W, Pan F, Tian H, Liu H, Zhang F.

Br J Dermatol. 2013 Jul;169(1):193-5. doi: 10.1111/bjd.12224. No abstract available.

PMID:
23834120
6.

Updating and correcting the description of MVK mutations identified in Chinese patients with disseminated superficial actinic porokeratosis.

Li C, Zhang Z.

J Dermatol Sci. 2014 Jul;75(1):68-9. doi: 10.1016/j.jdermsci.2014.03.006. Epub 2014 Apr 13. No abstract available.

PMID:
24794831
7.

Splicing mutation in MVK is a cause of porokeratosis of Mibelli.

Zeng K, Zhang QG, Li L, Duan Y, Liang YH.

Arch Dermatol Res. 2014 Oct;306(8):749-55. doi: 10.1007/s00403-014-1465-7. Epub 2014 Apr 30.

PMID:
24781643
8.

Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.

Zhang SQ, Jiang T, Li M, Zhang X, Ren YQ, Wei SC, Sun LD, Cheng H, Li Y, Yin XY, Hu ZM, Wang ZY, Liu Y, Guo BR, Tang HY, Tang XF, Ding YT, Wang JB, Li P, Wu BY, Wang W, Yuan XF, Hou JS, Ha WW, Wang WJ, Zhai YJ, Wang J, Qian FF, Zhou FS, Chen G, Zuo XB, Zheng XD, Sheng YJ, Gao JP, Liang B, Li P, Zhu J, Xiao FL, Wang PG, Cui Y, Li H, Liu SX, Gao M, Fan X, Shen SK, Zeng M, Sun GQ, Xu Y, Hu JC, He TT, Li YR, Yang HM, Wang J, Yu ZY, Zhang HF, Hu X, Yang K, Wang J, Zhao SX, Zhou YW, Liu JJ, Du WD, Zhang L, Xia K, Yang S, Wang J, Zhang XJ.

Nat Genet. 2012 Oct;44(10):1156-60. doi: 10.1038/ng.2409. Epub 2012 Sep 16.

PMID:
22983302
9.

Response to Li and Zhang: infevers, a human gene mutation database for autoinflammatory diseases including disseminated superficial actinic porokeratosis.

Touitou I, Milhavet F, Cuisset L.

J Dermatol Sci. 2014 Sep;75(3):208-9. doi: 10.1016/j.jdermsci.2014.06.002. Epub 2014 Jun 19. No abstract available.

PMID:
25022922
10.

Significant liver disease in a patient with Y116H mutation in the MVK gene.

Leyva-Vega M, Weiss PF, Ganesh J, Conlin L, Spinner NB, Matthews RP.

Am J Med Genet A. 2011 Jun;155A(6):1461-4. doi: 10.1002/ajmg.a.33915. Epub 2011 May 5. No abstract available.

PMID:
21548022
11.

Identification of a locus for disseminated superficial actinic porokeratosis at chromosome 12q23.2-24.1.

Xia JH, Yang YF, Deng H, Tang BS, Tang DS, He YG, Xia K, Chen SX, Li YX, Pan Q, Long ZG, Dai HP, Liao XD, Xiao JF, Liu ZR, Lu CY, Yu KP, Deng HX.

J Invest Dermatol. 2000 Jun;114(6):1071-4.

12.

Two closely linked variations in actin cytoskeleton pathway in a Chinese pedigree with disseminated superficial actinic porokeratosis.

Zhang ZH, Huang W, Niu ZM, Liu WD, Xiang LH, Yuan WT, Zhao JJ, Gu CY, Chai B, Jiang FX, Zhang J, Xu SJ, Zheng ZZ.

J Am Acad Dermatol. 2005 Jun;52(6):972-6.

PMID:
15928614
13.

Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis.

Cui H, Li L, Wang W, Shen J, Yue Z, Zheng X, Zuo X, Liang B, Gao M, Fan X, Yin X, Shen C, Yang C, Zhang C, Zhang X, Sheng Y, Gao J, Zhu Z, Lin D, Zhang A, Wang Z, Liu S, Sun L, Yang S, Cui Y, Zhang X.

J Med Genet. 2014 Oct;51(10):699-704. doi: 10.1136/jmedgenet-2014-102486. Epub 2014 Sep 1.

PMID:
25180256
14.

A mutation in SART3 gene in a Chinese pedigree with disseminated superficial actinic porokeratosis.

Zhang ZH, Niu ZM, Yuan WT, Zhao JJ, Jiang FX, Zhang J, Chai B, Cui F, Chen W, Lian CH, Xiang LH, Xu SJ, Liu WD, Zheng ZZ, Huang W.

Br J Dermatol. 2005 Apr;152(4):658-63.

PMID:
15840095
15.

Fine mapping and identification of a candidate gene SSH1 in disseminated superficial actinic porokeratosis.

Zhang Z, Niu Z, Yuan W, Liu W, Xiang L, Zhang J, Chu X, Zhao J, Jiang F, Chai B, Cui F, Wang Y, Zhang K, Wang Y, Xu S, Xia L, Gu J, Zhang S, Meng X, Wang S, Gao S, Fan M, Nie L, Zheng Z, Huang W.

Hum Mutat. 2004 Nov;24(5):438.

PMID:
15459975
16.

A novel missense mutation in MVK associated with MK deficiency and dyserythropoietic anemia.

Samkari A, Borzutzky A, Fermo E, Treaba DO, Dedeoglu F, Altura RA.

Pediatrics. 2010 Apr;125(4):e964-8. doi: 10.1542/peds.2009-1774. Epub 2010 Mar 1.

PMID:
20194276
17.

Identification of three mutations in the MVK gene in six patients associated with disseminated superficial actinic porokeratosis.

Liu Y, Wang J, Qin Y, Huang C, Archacki S, Ma J, Li D, Liu M.

Clin Chim Acta. 2016 Feb 15;454:124-9. doi: 10.1016/j.cca.2016.01.009. Epub 2016 Jan 12.

PMID:
26794421
18.

Confirmation and refinement of a genetic locus for disseminated superficial actinic porokeratosis (DSAP1) at 12q23.2-24.1.

Wu LQ, Yang YF, Zheng D, Deng H, Pan Q, Zhao TL, Cai F, Feng Y, Long ZG, Dai HP, Tang BS, Yang YJ, Deng HX, Xia K, Xia JH.

Br J Dermatol. 2004 May;150(5):999-1004.

PMID:
15149516
20.

Genomic variations of the mevalonate pathway in porokeratosis.

Zhang Z, Li C, Wu F, Ma R, Luan J, Yang F, Liu W, Wang L, Zhang S, Liu Y, Gu J, Hua W, Fan M, Peng H, Meng X, Song N, Bi X, Gu C, Zhang Z, Huang Q, Chen L, Xiang L, Xu J, Zheng Z, Jiang Z.

Elife. 2015 Jul 23;4:e06322. doi: 10.7554/eLife.06322. Erratum in: Elife. 2016;5:e14383.

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