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Clinical features of a novel TIMP-3 mutation causing Sorsby's fundus dystrophy: implications for disease mechanism.
Clarke M, Mitchell KW, Goodship J, McDonnell S, Barker MD, Griffiths ID, McKie N.
Br J Ophthalmol. 2001 Dec;85(12):1429-31.PMID: 11734514 [PubMed - indexed for MEDLINE]Related articlesFree article
Sorsby's fundus dystrophy in a family with a Ser-181-CVS mutation in the TIMP-3 gene: poor outcome after laser photocoagulation.
Sieving PA, Boskovich S, Bingham E, Pawar H.
Trans Am Ophthalmol Soc. 1996;94:275-94; discussion 295-7.PMID: 8981701 [PubMed - indexed for MEDLINE]Related articlesFree article
A novel tissue inhibitor of metalloproteinases-3 mutation reveals a common molecular phenotype in Sorsby's fundus dystrophy.
Langton KP, McKie N, Curtis A, Goodship JA, Bond PM, Barker MD, Clarke M.
J Biol Chem. 2000 Sep 1;275(35):27027-31.PMID: 10854443 [PubMed - indexed for MEDLINE]Related articlesFree article
A novel splice site mutation in the tissue inhibitor of the metalloproteinases-3 gene in Sorsby's fundus dystrophy with unusual clinical features.
Tabata Y, Isashiki Y, Kamimura K, Nakao K, Ohba N.
Hum Genet. 1998 Aug;103(2):179-82.PMID: 9760202 [PubMed - indexed for MEDLINE]Related articles
Sorsby's fundus dystrophy. A South African family with a point mutation on the tissue inhibitor of metalloproteinases-3 gene on chromosome 22.
Peters AL, Greenberg J.
Retina. 1995;15(6):480-5.PMID: 8747441 [PubMed - indexed for MEDLINE]Related articles
Autosomal dominant hemorrhagic macular dystrophy not associated with the TIMP3 gene.
Ayyagari R, Griesinger IB, Bingham E, Lark KK, Moroi SE, Sieving PA.
Arch Ophthalmol. 2000 Jan;118(1):85-92.PMID: 10636420 [PubMed - indexed for MEDLINE]Related articlesFree article
Localization of the functional domains of human tissue inhibitor of metalloproteinases-3 and the effects of a Sorsby's fundus dystrophy mutation.
Langton KP, Barker MD, McKie N.
J Biol Chem. 1998 Jul 3;273(27):16778-81.PMID: 9642234 [PubMed - indexed for MEDLINE]Related articlesFree article
A novel His158Arg mutation in TIMP3 causes a late-onset form of Sorsby fundus dystrophy.
Lin RJ, Blumenkranz MS, Binkley J, Wu K, Vollrath D.
Am J Ophthalmol. 2006 Nov;142(5):839-48. Epub 2006 Sep 20.PMID: 16989765 [PubMed - indexed for MEDLINE]Related articles
Sorsby's fundus dystrophy.
Weisinger HS, Pesudovs K.
Optometry. 2001 Jul;72(7):435-40.PMID: 11486938 [PubMed - indexed for MEDLINE]Related articles
TIMP3 mutation in Sorsby's fundus dystrophy: molecular insights.
Li Z, Clarke MP, Barker MD, McKie N.
Expert Rev Mol Med. 2005 Oct 31;7(24):1-15. Review.PMID: 16259644 [PubMed - indexed for MEDLINE]Related articles
Sorsby's fundus dystrophy in two Japanese families with unusual clinical features.
Isashiki Y, Tabata Y, Kamimura K, Ohba N.
Jpn J Ophthalmol. 1999 Nov-Dec;43(6):472-80.PMID: 10672875 [PubMed - indexed for MEDLINE]Related articles
Sorsby's fundus dystrophy tissue inhibitor of metalloproteinases-3 (TIMP-3) mutants have unimpaired matrix metalloproteinase inhibitory activities, but affect cell adhesion to the extracellular matrix.
Yeow KM, Kishnani NS, Hutton M, Hawkes SP, Murphy G, Edwards DR.
Matrix Biol. 2002 Jan;21(1):75-88.PMID: 11827795 [PubMed - indexed for MEDLINE]Related articles
Expression of Sorsby's fundus dystrophy mutations in human retinal pigment epithelial cells reduces matrix metalloproteinase inhibition and may promote angiogenesis.
Qi JH, Ebrahem Q, Yeow K, Edwards DR, Fox PL, Anand-Apte B.
J Biol Chem. 2002 Apr 19;277(16):13394-400. Epub 2002 Jan 30.PMID: 11821400 [PubMed - indexed for MEDLINE]Related articlesFree article
Sorsby fundus dystrophy without a mutation in the TIMP-3 gene.
Assink JJ, de Backer E, ten Brink JB, Kohno T, de Jong PT, Bergen AA, Meire F.
Br J Ophthalmol. 2000 Jul;84(7):682-6.PMID: 10873973 [PubMed - indexed for MEDLINE]Related articlesFree article
Accumulation of tissue inhibitor of metalloproteinases-3 in human eyes with Sorsby's fundus dystrophy or retinitis pigmentosa.
Fariss RN, Apte SS, Luthert PJ, Bird AC, Milam AH.
Br J Ophthalmol. 1998 Nov;82(11):1329-34.PMID: 9924344 [PubMed - indexed for MEDLINE]Related articlesFree article
Sorsby's fundus dystrophy mutations impair turnover of TIMP-3 by retinal pigment epithelial cells.
Langton KP, McKie N, Smith BM, Brown NJ, Barker MD.
Hum Mol Genet. 2005 Dec 1;14(23):3579-86. Epub 2005 Oct 13.PMID: 16223891 [PubMed - indexed for MEDLINE]Related articlesFree article
TIMP-3, collagen, and elastin immunohistochemistry and histopathology of Sorsby's fundus dystrophy.
Chong NH, Alexander RA, Gin T, Bird AC, Luthert PJ.
Invest Ophthalmol Vis Sci. 2000 Mar;41(3):898-902.PMID: 10711711 [PubMed - indexed for MEDLINE]Related articlesFree article
Sorsby's fundus dystrophy. A clinical study.
Polkinghorne PJ, Capon MR, Berninger T, Lyness AL, Sehmi K, Bird AC.
Ophthalmology. 1989 Dec;96(12):1763-8.PMID: 2622621 [PubMed - indexed for MEDLINE]Related articles
Sorsby's fundus dystrophy: a case report of 24 years follow-up with electrodiagnostic tests and indocyanine green angiography.
Lip PL, Good PA, Gibson JM.
Eye (Lond). 1999;13 ( Pt 1):16-25.PMID: 10396378 [PubMed - indexed for MEDLINE]Related articles
Assessment of mutations in the Best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull's-eye maculopathy.
Seddon JM, Afshari MA, Sharma S, Bernstein PS, Chong S, Hutchinson A, Petrukhin K, Allikmets R.
Ophthalmology. 2001 Nov;108(11):2060-7.PMID: 11713080 [PubMed - indexed for MEDLINE]Related articles
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