Literature DB >> 8634721

A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features.

U Felbor1, H Stöhr, T Amann, U Schönherr, B H Weber.   

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Year:  1995        PMID： 8634721     DOI： 10.1093/hmg/4.12.2415

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  22 in total

1.  Clinical features of a novel TIMP-3 mutation causing Sorsby's fundus dystrophy: implications for disease mechanism.

Authors:  M Clarke; K W Mitchell; J Goodship; S McDonnell; M D Barker; I D Griffiths; N McKie
Journal:  Br J Ophthalmol       Date:  2001-12       Impact factor: 4.638

Review 2.  That impish TIMP: the tissue inhibitor of metalloproteinases-3.

Authors:  J F Woessner
Journal:  J Clin Invest       Date:  2001-09       Impact factor: 14.808

3.  Drusen proteome analysis: an approach to the etiology of age-related macular degeneration.

Authors:  John W Crabb; Masaru Miyagi; Xiaorong Gu; Karen Shadrach; Karen A West; Hirokazu Sakaguchi; Motohiro Kamei; Azeem Hasan; Lin Yan; Mary E Rayborn; Robert G Salomon; Joe G Hollyfield
Journal:  Proc Natl Acad Sci U S A       Date:  2002-10-21       Impact factor: 11.205

4.  A novel TIMP3 mutation associated with a retinitis pigmentosa-like phenotype.

Authors:  Meghan J DeBenedictis; Yosef Gindzin; Enrico Glaab; Bela Anand-Apte
Journal:  Ophthalmic Genet       Date:  2020-07-27       Impact factor: 1.803

5.  Matrix bound SFD mutant TIMP-3 is more stable than wild type TIMP-3.

Authors:  Mohammed A Majid; Valerie A Smith; Andrew C Newby; Andrew D Dick
Journal:  Br J Ophthalmol       Date:  2007-03-23       Impact factor: 4.638

6.  A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy.

Authors:  U Felbor; H Stöhr; T Amann; U Schönherr; E Apfelstedt-Sylla; B H Weber
Journal:  J Med Genet       Date:  1996-03       Impact factor: 6.318

7.  Sorsby fundus dystrophy without a mutation in the TIMP-3 gene.

Authors:  J J Assink; E de Backer; J B ten Brink; T Kohno; P T de Jong; A A Bergen; F Meire
Journal:  Br J Ophthalmol       Date:  2000-07       Impact factor: 4.638

Review 8.  Sorsby fundus dystrophy: Insights from the past and looking to the future.

Authors:  Bela Anand-Apte; Jennifer R Chao; Ruchira Singh; Heidi Stöhr
Journal:  J Neurosci Res       Date:  2018-08-21       Impact factor: 4.164

9.  Influence of TIMP3/SYN3 polymorphisms on the phenotypic presentation of age-related macular degeneration.

Authors:  Daniel Ardeljan; Catherine B Meyerle; Elvira Agron; Jie Jin Wang; Paul Mitchell; Emily Y Chew; Jing Zhao; Arvydas Maminishkis; Chi-Chao Chan; Jingsheng Tuo
Journal:  Eur J Hum Genet       Date:  2013-02-20       Impact factor: 4.246

Review 10.  The genetics of inherited macular dystrophies.

Authors:  M Michaelides; D M Hunt; A T Moore
Journal:  J Med Genet       Date:  2003-09       Impact factor: 6.318
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