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Items: 1 to 20 of 100

1.

Genetic correction and analysis of induced pluripotent stem cells from a patient with gyrate atrophy.

Howden SE, Gore A, Li Z, Fung HL, Nisler BS, Nie J, Chen G, McIntosh BE, Gulbranson DR, Diol NR, Taapken SM, Vereide DT, Montgomery KD, Zhang K, Gamm DM, Thomson JA.

Proc Natl Acad Sci U S A. 2011 Apr 19;108(16):6537-42. doi: 10.1073/pnas.1103388108. Epub 2011 Apr 4.

3.

Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.

Doimo M, Desbats MA, Baldoin MC, Lenzini E, Basso G, Murphy E, Graziano C, Seri M, Burlina A, Sartori G, Trevisson E, Salviati L.

Hum Mutat. 2013 Jan;34(1):229-36. doi: 10.1002/humu.22233. Epub 2012 Oct 17.

PMID:
23076989
5.

Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy.

Inana G, Chambers C, Hotta Y, Inouye L, Filpula D, Pulford S, Shiono T.

J Biol Chem. 1989 Oct 15;264(29):17432-6.

6.

A deletion in the ornithine aminotransferase gene in gyrate atrophy.

Akaki Y, Hotta Y, Mashima Y, Murakami A, Kennaway NG, Weleber RG, Inana G.

J Biol Chem. 1992 Jun 25;267(18):12950-4.

7.

Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.

Brody LC, Mitchell GA, Obie C, Michaud J, Steel G, Fontaine G, Robert MF, Sipila I, Kaiser-Kupfer M, Valle D.

J Biol Chem. 1992 Feb 15;267(5):3302-7.

8.

Three novel mutations of the ornithine aminotransferase (OAT) gene in gyrate atrophy.

Park JK, Herron BJ, O'Donnell JJ, Shih VE, Ramesh V.

Genomics. 1992 Oct;14(2):553-4. No abstract available.

PMID:
1427882
9.

Heterogeneity and uniqueness of ornithine aminotransferase mutations found in Japanese gyrate atrophy patients.

Mashima Y, Shiono T, Tamai M, Inana G.

Curr Eye Res. 1996 Jul;15(7):792-6.

PMID:
8670789
10.

Gyrate atrophy of the choroid and retina diagnosed by ornithine-δ-aminotransferase gene analysis: a case report.

Kim SJ, Lim DH, Kim JH, Kang SW.

Korean J Ophthalmol. 2013 Oct;27(5):388-91. doi: 10.3341/kjo.2013.27.5.388. Epub 2013 Sep 10.

11.

Retinal structure, function, and molecular pathologic features in gyrate atrophy.

Sergouniotis PI, Davidson AE, Lenassi E, Devery SR, Moore AT, Webster AR.

Ophthalmology. 2012 Mar;119(3):596-605. doi: 10.1016/j.ophtha.2011.09.017. Epub 2011 Dec 17.

PMID:
22182799
12.

Molecular genetics of ornithine aminotransferase defect in gyrate atrophy.

Inana G, Hotta Y, Zintz C, Nakajima A, Shiono T, Kennaway NG, Weleber RG.

Prog Clin Biol Res. 1989;314:99-111. No abstract available.

PMID:
2575258
13.

Retrovirus-mediated gene transfer of ornithine-delta-aminotransferase into keratinocytes from gyrate atrophy patients.

Jensen TG, Sullivan DM, Morgan RA, Taichman LB, Nussenblatt RB, Blaese RM, Csaky KG.

Hum Gene Ther. 1997 Nov 20;8(17):2125-32.

PMID:
9414260
14.

A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy.

Park JK, O'Donnell JJ, Shih VE, Gusella JF, Ramesh V.

Hum Mutat. 1992;1(4):293-7.

PMID:
1301936
15.

Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation.

Renner AB, Walter A, Fiebig BS, Jägle H.

Doc Ophthalmol. 2012 Aug;125(1):81-9. doi: 10.1007/s10633-012-9335-0. Epub 2012 Jun 7.

PMID:
22674428
16.

Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy.

McClatchey AI, Kaufman DL, Berson EL, Tobin AJ, Shih VE, Gusella JF, Ramesh V.

Am J Hum Genet. 1990 Nov;47(5):790-4.

17.
18.

OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina.

Katagiri S, Gekka T, Hayashi T, Ida H, Ohashi T, Eto Y, Tsuneoka H.

Doc Ophthalmol. 2014 Apr;128(2):137-48. doi: 10.1007/s10633-014-9426-1. Epub 2014 Jan 16.

PMID:
24429551
19.

Molecular basis of ornithine aminotransferase defect in gyrate atrophy.

Inana G, Hotta Y, Zintz C, Chambers C, Kennaway NG, Weleber RG, Nakajima A, Shiono T.

Prog Clin Biol Res. 1991;362:191-219. Review. No abstract available.

PMID:
1672235
20.

Factor-induced Reprogramming and Zinc Finger Nuclease-aided Gene Targeting Cause Different Genome Instability in β-Thalassemia Induced Pluripotent Stem Cells (iPSCs).

Ma N, Shan Y, Liao B, Kong G, Wang C, Huang K, Zhang H, Cai X, Chen S, Pei D, Chen N, Pan G.

J Biol Chem. 2015 May 8;290(19):12079-89. doi: 10.1074/jbc.M114.624999. Epub 2015 Mar 20.

PMID:
25795783
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