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Scholar Results 1 - 10 of about 101 related to Clarke: Clinical features of a novel TIMP-3 mutation causing Sorsby's fundus dystrophy: implicati.... (0.13 sec) 

Clinical features of a novel TIMP-3 mutation causing Sorsby's fundus dystrophy: …

- bmj.com
M Clarke, KW Mitchell, J Goodship, S … - British Medical Journal, 2001 - bjo.bmj.com
The discovery of mutations in the tissue inhibitor of metalloproteinase-3
(TIMP-3) gene in some families labelled as SFD indicated that it was truly a
separate disorder. 4 Five mutations have been described to date, all ...
Cited by 9 - Related articles - BL Direct - All 10 versions

Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy


SG Jacobson, AV Cideciyan, J Bennett, RM … - Archives of Ophthalmology, 2002 - Am Med Assoc
You are seeing this message because your Web browser does not support basic Web
standards. Find out more about why this message is appearing and what you can do
to make your experience on this site better. ... Objective To determine ...
Cited by 16 - Related articles - BL Direct - All 5 versions

Expression of mutant and wild-type TIMP3 in primary gingival fibroblasts from Sorsby's …


CE Arris, DJ Bevitt, J Mohamed, Z Li, KP … - BBA-Molecular Basis of Disease, 2003 - Elsevier
Gingival fibroblast cell lines were derived from Sorsby's fundus dystrophy (SFD)
patients carrying the S181C TIMP3 and the E139X TIMP3 mutations. These cell
lines were grown in culture to study expression of the wild-type and mutant ...
Cited by 6 - Related articles - All 6 versions

Sorsby's fundus dystrophy mutations impair turnover of TIMP-3 by retinal pigment epithelial …

- oxfordjournals.org
KP Langton, N McKie, BM Smith, NJ Brown, … - Human Molecular Genetics, 2005 - Oxford Univ Press
Sorsby's fundus dystrophy (SFD) is an autosomal dominant degenerative disease of
the retina, caused by mutations in exon 5 of the gene for tissue inhibitor of
metalloproteinases-3 (TIMP-3). The mechanism by which these mutations give ...
Cited by 7 - Related articles - BL Direct - All 5 versions

[CITATION] The influence of moderate and high dietary docosahexanoic acid on baboon neonate neural …


AT Hsieh, JC Anthony, DA Diersen-Schade, … - Ped Res In Press. Find this article online, 2007
Cited by 2 - Related articles

The C 66 W Mutation in the Deafness Dystonia Peptide 1(DDP 1) Affects the Formation of …


S Hofmann, U Rothbauer, N Muehlenbein, W … - Journal of Biological Chemistry, 2002 - ASBMB
Mohr-Tranebjaerg syndrome is a progressive, neurodegenerative disorder caused by
loss-of-function mutations in the DDP1/TIMM8A gene. DDP1 belongs to a family of
evolutionary conserved proteins that are organized in hetero-oligomeric ...
Cited by 2 - Related articles - All 2 versions

[CITATION] Localization of Mouse Lumican (Keratan Sulfate Proteoglycan) to Distal Chromosome 1o


S Chakravarti, T Magnuson - Mammalian Genome, 1995
Cited by 2 - Related articles

TIMP-3, collagen, and elastin immunohistochemistry and histopathology of Sorsby's fundus …

- iovs.org
NH Chong, RA Alexander, T Gin, AC Bird, PJ … - Investigative ophthalmology & visual science, 2000 - ARVO
METHODS. The eyes of an SFD donor with a confirmed TIMP-3 mutation were examined
using histologic techniques demonstrating connective tissue, calcium, and lipid.
Immunohistochemical analyses were performed using antibodies against ...
Cited by 34 - Related articles - BL Direct - All 4 versions

TIMP3 mutation in Sorsby's fundus dystrophy: molecular insights


Z Li, MP Clarke, MD Barker, N McKie - Expert Reviews in Molecular Medicine, 2005 - Cambridge Univ Press
Accession information: DOI: 10.1017/S1462399405010045; Vol. 7; Issue 24; 1
November 2005 ... Zheng Li, Michael P. Clarke, Michael D. Barker and Norman
McKie ... Zheng Li Clinical Research Associate, Henry Wellcome Laboratory ...
Cited by 14 - Related articles - All 2 versions

Effects of GP2 expression on secretion and endocytosis in pancreatic AR4-2J cells


S Yu, Y Hao, AW Lowe - Biochemical and Biophysical Research …, 2004 - Elsevier
GP2 is the major membrane protein present in secretory granules of the exocrine
pancreas. GP2's function is unknown, but a role in digestive enzyme packaging or
secretion from secretory granules has been proposed. In addition, GP2 has ...
Cited by 5 - Related articles - All 5 versions


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