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Scholar Results 1 - 10 of about 101 related to Wang: Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin.... (0.10 sec) 

Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin …

- nih.gov
T Wang, A Zhou, CT Waters, EO'Connor, RJ … - British Journal of Ophthalmology, 2006 - bjo.bmj.com
Methods and results: The authors developed a structural model of the
retinoschisin discoidin domain and used this to predict the effects of missense
mutations. They expressed disease associated mutations and found that those ...
Cited by 18 - Related articles - BL Direct - All 9 versions

RS 1, a discoidin domain-containing retinal cell adhesion protein associated with X-linked …


WWH Wu, JP Wong, J Kast, RS Molday - Journal of Biological Chemistry, 2005 - ASBMB
RS1, also known as retinoschisin, is an extracellular protein that plays a
crucial role in the cellular organization of the retina. Mutations in RS1 are
responsible for X-linked retinoschisis, a common, early-onset macular ...
Cited by 29 - Related articles - All 6 versions

Focus on molecules: retinoschisin (RS1)


RS Molday - Experimental eye research, 2007 - Elsevier
Retinoschisin, also known as RS1 (accession numbers O15537 (Swiss-Protein)), was
initially identified as the protein encoded by the RS1 gene associated with
X-linked juvenile retinoschisis (Sauer et al., 1997). The 24 kDa protein ...
Cited by 17 - Related articles - All 3 versions

Coexpression and interaction of wild-type and missense RS1 mutants associated with X-linked …

- iovs.org
FM Dyka, RS Molday - Investigative ophthalmology & visual science, 2007 - ARVO
PURPOSE. X-linked retinoschisis (XLRS) is an early-onset retinal disease caused
by mutations in retinoschisin (RS1), a multisubunit, extracellular protein
implicated in retinal cell adhesion. Delivery of the normal RS1 gene to ...
Cited by 5 - Related articles - BL Direct - All 3 versions

Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum …


WWH Wu, RS Molday - Journal of Biological Chemistry, 2003 - ASBMB
Retinoschisin is a 24-kDa discoidin domain-containing protein that is secreted
from photoreceptor and bipolar cells as a large disulfide-linked multisubunit
complex. It functions as a cell adhesion protein to maintain the cellular ...
Cited by 42 - Related articles - BL Direct - All 7 versions

Retinoschisin forms a multi-molecular complex with extracellular matrix and cytoplasmic …


MF Steiner-Champliaud, J Sahel, D Hicks - Mol Vis, 2006 - molvis.org
Methods: Western blotting and RT-PCR of isolated outer nuclear (photoreceptors),
inner nuclear and ganglion cell layers, and cell culture compartments were
performed to verify sites of Rs1 synthesis and distribution. Potential Rs1 ...
Cited by 7 - Related articles - Cached - All 3 versions

Effects of pathological mutations on the stability of a conserved amino acid triad in …

- vu.nl [PDF] 
F Fraternali, L Cavallo, G Musco - FEBS letters, 2003 - Elsevier
A three-dimensional model has been calculated for the discoidin domain of
retinoschisin (RS1), the protein involved in the X-linked juvenile
retinoschisis. The model allows for a mapping of the pathological ...
Cited by 13 - Related articles - All 8 versions

X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients

- bmj.com
D Pimenides, NDL George, JRW Yates, K … - British Medical Journal, 2005 - jmg.bmj.com
Background: Inactivating mutations of the gene RS1 lead to X-linked
retinoschisis, a progressive retinal dystrophy characterised by schisis within
the inner layers of the neuroretina. The mutation spectrum is large and the ...
Cited by 22 - Related articles - All 7 versions

Retinoschisin (RS1), the protein encoded by the X-linked retinoschisis gene, is anchored to …

- shouxi.net
LL Molday, WWH Wu, RS Molday - Journal of Biological Chemistry, 2007 - ASBMB
Retinoschisin or RS1 is a discoidin domain-containing protein encoded by the
gene responsible for X-linked retinoschisis (XLRS), an early onset macular
degeneration characterized by a splitting of the retina. Retinoschisin, ...
Cited by 17 - Related articles - All 5 versions

Glial transcytosis of a photoreceptor-secreted signaling protein, retinoschisin


SNM Reid, DB Farber - Glia, 2005 - interscience.wiley.com
In vitro studies have clearly shown that signaling/guidance proteins can diffuse
to their targets. However, it is unclear whether they can travel by diffusion in
vivo, or if they are distributed in the tissue by an active mechanism. ...
Cited by 12 - Related articles - All 3 versions


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