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Items: 1 to 20 of 197

1.

Clinical impact of the alpha-galactosidase A gene single nucleotide polymorphism -10C>T: A single-center observational study.

Oder D, Liu D, Üçeyler N, Sommer C, Hu K, Salinger T, Müntze J, Petritsch B, Ertl G, Wanner C, Nordbeck P, Weidemann F.

Medicine (Baltimore). 2018 May;97(21):e10669. doi: 10.1097/MD.0000000000010669.

2.

Matrix Gla protein negatively regulates calcification of human aortic valve interstitial cells isolated from calcified aortic valves.

Chiyoya M, Seya K, Yu Z, Daitoku K, Motomura S, Imaizumi T, Fukuda I, Furukawa KI.

J Pharmacol Sci. 2018 Apr;136(4):257-265. doi: 10.1016/j.jphs.2018.03.004. Epub 2018 Mar 29.

3.

The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease.

Hasholt L, Ballegaard M, Bundgaard H, Christiansen M, Law I, Lund AM, Norremolle A, Krogh Rasmussen A, Ravn K, Tumer Z, Wibrand F, Feldt-Rasmussen U.

Scand J Clin Lab Invest. 2017 Dec;77(8):617-621. doi: 10.1080/00365513.2017.1390782. Epub 2017 Oct 16.

PMID:
29037082
4.

α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease.

Oder D, Liu D, Hu K, Üçeyler N, Salinger T, Müntze J, Lorenz K, Kandolf R, Gröne HJ, Sommer C, Ertl G, Wanner C, Nordbeck P.

Circ Cardiovasc Genet. 2017 Oct;10(5). pii: e001691. doi: 10.1161/CIRCGENETICS.116.001691.

PMID:
29018006
5.

Fabry disease due to D313Y and novel GLA mutations.

Koulousios K, Stylianou K, Pateinakis P, Zamanakou M, Loules G, Manou E, Kyriklidou P, Katsinas C, Ouzouni A, Kyriazis J, Speletas M, Germenis AE.

BMJ Open. 2017 Oct 6;7(10):e017098. doi: 10.1136/bmjopen-2017-017098. Erratum in: BMJ Open. 2018 Mar 8;8(3):e017098corr1.

6.

Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.

Choi JH, Lee BH, Heo SH, Kim GH, Kim YM, Kim DS, Ko JM, Sohn YB, Hong YH, Lee DH, Kook H, Lim HH, Kim KH, Kim WS, Hong GR, Kim SH, Park SH, Kim CD, Kim SM, Seo JS, Yoo HW.

Medicine (Baltimore). 2017 Jul;96(29):e7387. doi: 10.1097/MD.0000000000007387.

7.

Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease.

Chang WH, Niu DM, Lu CY, Lin SY, Liu TC, Chang JG.

PLoS One. 2017 Apr 21;12(4):e0175929. doi: 10.1371/journal.pone.0175929. eCollection 2017.

8.

Genetic epidemiological study doesn't support GLA IVS4+919G>A variant is a significant mutation in Fabry disease.

Chiang HL, Wang NH, Song IW, Chang CP, Wen MS, Chien YH, Hwu WL, Tsai FJ, Chen YT, Wu JY.

Mol Genet Metab. 2017 May;121(1):22-27. doi: 10.1016/j.ymgme.2017.03.005. Epub 2017 Mar 24.

PMID:
28377241
9.

The mutation p.D313Y is associated with organ manifestation in Fabry disease.

du Moulin M, Koehn AF, Golsari A, Dulz S, Atiskova Y, Patten M, Münch J, Avanesov M, Ullrich K, Muschol N.

Clin Genet. 2017 Nov;92(5):528-533. doi: 10.1111/cge.13007. Epub 2017 Apr 24.

PMID:
28276057
10.

Prevalence of Fabry disease and GLA c.196G>C variant in Japanese stroke patients.

Nagamatsu K, Sekijima Y, Nakamura K, Nakamura K, Hattori K, Ota M, Shimizu Y, Endo F, Ikeda SI.

J Hum Genet. 2017 Jul;62(7):665-670. doi: 10.1038/jhg.2017.31. Epub 2017 Mar 9.

PMID:
28275245
11.

COMPUTER ASSISTED RETINAL VESSEL TORTUOSITY EVALUATION IN NOVEL MUTATION FABRY DISEASE: Towards New Prognostic Markers.

San Román I, Rodríguez ME, Caporossi O, Zoppetti C, Sodi A, Mecocci A, López D, Rodríguez B, Gimeno JR.

Retina. 2017 Mar;37(3):592-603. doi: 10.1097/IAE.0000000000001177.

PMID:
28225726
12.

A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutation.

Lee HJ, Hsu TR, Hung SC, Yu WC, Chu TH, Yang CF, Bizjajeva S, Tiu CM, Niu DM.

BMC Neurol. 2017 Feb 6;17(1):25. doi: 10.1186/s12883-017-0810-9.

13.

Mild Left Ventricular Hypertrophy Unravels a Novel Nonsense Mutation of the GLA Gene Associated with the Classical Phenotype of Fabry Disease.

Azevedo O, Gago M, Miltenberger-Miltenyi G, Gaspar P, Sousa N, Cunha D.

Cardiology. 2017;137(2):67-73. doi: 10.1159/000455117. Epub 2017 Feb 3.

PMID:
28152533
14.

The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome.

Hossain MA, Yanagisawa H, Miyajima T, Wu C, Takamura A, Akiyama K, Itagaki R, Eto K, Iwamoto T, Yokoi T, Kurosawa K, Numabe H, Eto Y.

Mol Genet Metab. 2017 Mar;120(3):173-179. doi: 10.1016/j.ymgme.2017.01.002. Epub 2017 Jan 7.

PMID:
28087245
15.

The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.

Citro V, Cammisa M, Liguori L, Cimmaruta C, Lukas J, Cubellis MV, Andreotti G.

Int J Mol Sci. 2016 Dec 1;17(12). pii: E2010. Review.

16.

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.

Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Koeller D, Nedd K, Vockley G, Hamazaki T, Lachmann R, Ohashi T, Olivotto I, Sakai N, Deegan P, Dimmock D, Eyskens F, Germain DP, Goker-Alpan O, Hachulla E, Jovanovic A, Lourenco CM, Narita I, Thomas M, Wilcox WR, Bichet DG, Schiffmann R, Ludington E, Viereck C, Kirk J, Yu J, Johnson F, Boudes P, Benjamin ER, Lockhart DJ, Barlow C, Skuban N, Castelli JP, Barth J, Feldt-Rasmussen U.

J Med Genet. 2017 Apr;54(4):288-296. doi: 10.1136/jmedgenet-2016-104178. Epub 2016 Nov 10. Erratum in: J Med Genet. 2018 Apr 16;:.

17.

Pseudo-dominant inheritance of a novel double GLA mutation associated with Fabry disease mimicking familial episodic pain.

Mao C, Luo H, Yang J, Qin J, Wang H, Song B, Sun S, Zhuang Z, Shi C, Xu Y.

Am J Med Genet A. 2016 Nov;170(11):3051-3053. doi: 10.1002/ajmg.a.37833. Epub 2016 Aug 17. No abstract available.

PMID:
27531472
18.

Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry.

Hopkin RJ, Cabrera G, Charrow J, Lemay R, Martins AM, Mauer M, Ortiz A, Patel MR, Sims K, Waldek S, Warnock DG, Wilcox WR.

Mol Genet Metab. 2016 Sep;119(1-2):151-9. doi: 10.1016/j.ymgme.2016.06.007. Epub 2016 Jun 13.

19.

Is it Fabry disease?

Schiffmann R, Fuller M, Clarke LA, Aerts JM.

Genet Med. 2016 Dec;18(12):1181-1185. doi: 10.1038/gim.2016.55. Epub 2016 May 19. Review.

PMID:
27195818
20.

Familial hypertrophic obstructive cardiomyopathy with the GLA E66Q mutation and zebra body.

Oikawa M, Sakamoto N, Kobayashi A, Suzuki S, Yoshihisa A, Yamaki T, Nakazato K, Suzuki H, Saitoh S, Kiko Y, Nakano H, Hayashi T, Kimura A, Takeishi Y.

BMC Cardiovasc Disord. 2016 May 10;16:83. doi: 10.1186/s12872-016-0262-y.

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