Matches in SemOpenAlex for { <https://semopenalex.org/work/W1936146191> ?p ?o ?g. }
Showing items 1 to 78 of
78
with 100 items per page.
- W1936146191 endingPage "146" @default.
- W1936146191 startingPage "141" @default.
- W1936146191 abstract "The photoreceptor disk membrane protein peripherin/rds is essential for the outer segment morphogenesis and integrity. Peripherin/rds associates with itself and with its homologue Rom-1 to form homo- and hetero-complexes, which are necessary for its structural role (Goldberg et al., 1995; Molday, 1998). More than seventy different pathogenic mutations in the peripherin/rds gene have been identified. These mutations are divided primarily into two categories: those associated with classic retinitis pigmentosa (RP), and those associated with various forms of macular dystrophy (MD). In fact, mutations in peripherin/rds account for 5–10% of RP causes, and is a major cause for MD (Kohl et al., 1998; Molday, 1998; http://www.sph.uth.tmc.edu/RetNet; http://www.retina-international.org/scinews/rdsmut.htm). Insights into the functional significance, structural role, and pathogenic effects of this protein have been accumulating considerably since its initial description; this is largely accomplished by the use of laboratory animal models. Use of transgenic or knock-out animals holds great potential for the investigation of retinal disease pathogenesis and the exploration of therapeutic interventions. Table 21.1 summarizes the animal models used to investigate the disease-causing mutations in peripherin/rds. In addition to the pathogenesis study, transgenic mouse and Xenopus laevis expressing the wild type peripherin/rds or the C-terminus have also been used to explore the structural and functional significance of the protein (Loewen et al., 2003; Ritter et al., 2004)." @default.
- W1936146191 created "2016-06-24" @default.
- W1936146191 creator A5031536121 @default.
- W1936146191 creator A5073022367 @default.
- W1936146191 date "2007-08-03" @default.
- W1936146191 modified "2023-10-17" @default.
- W1936146191 title "Transgenic Animal Studies of Human Retinal Disease Caused by Mutations in Peripherin/RDS" @default.
- W1936146191 cites W1967942686 @default.
- W1936146191 cites W1969529794 @default.
- W1936146191 cites W1982107276 @default.
- W1936146191 cites W1991803711 @default.
- W1936146191 cites W2003558219 @default.
- W1936146191 cites W2016042884 @default.
- W1936146191 cites W2021371090 @default.
- W1936146191 cites W2027291403 @default.
- W1936146191 cites W2028615540 @default.
- W1936146191 cites W2029944729 @default.
- W1936146191 cites W2035702148 @default.
- W1936146191 cites W2036584633 @default.
- W1936146191 cites W2045082459 @default.
- W1936146191 cites W2058917275 @default.
- W1936146191 cites W2078881388 @default.
- W1936146191 cites W2081345991 @default.
- W1936146191 cites W2098256296 @default.
- W1936146191 cites W2123814643 @default.
- W1936146191 cites W2155155386 @default.
- W1936146191 cites W2168154815 @default.
- W1936146191 doi "https://doi.org/10.1007/0-387-32442-9_21" @default.
- W1936146191 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2793174" @default.
- W1936146191 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17249567" @default.
- W1936146191 hasPublicationYear "2007" @default.
- W1936146191 type Work @default.
- W1936146191 sameAs 1936146191 @default.
- W1936146191 citedByCount "6" @default.
- W1936146191 countsByYear W19361461912013 @default.
- W1936146191 countsByYear W19361461912016 @default.
- W1936146191 countsByYear W19361461912021 @default.
- W1936146191 crossrefType "book-chapter" @default.
- W1936146191 hasAuthorship W1936146191A5031536121 @default.
- W1936146191 hasAuthorship W1936146191A5073022367 @default.
- W1936146191 hasBestOaLocation W19361461912 @default.
- W1936146191 hasConcept C102230213 @default.
- W1936146191 hasConcept C104317684 @default.
- W1936146191 hasConcept C141035611 @default.
- W1936146191 hasConcept C2781114197 @default.
- W1936146191 hasConcept C28521208 @default.
- W1936146191 hasConcept C501734568 @default.
- W1936146191 hasConcept C54355233 @default.
- W1936146191 hasConcept C86803240 @default.
- W1936146191 hasConceptScore W1936146191C102230213 @default.
- W1936146191 hasConceptScore W1936146191C104317684 @default.
- W1936146191 hasConceptScore W1936146191C141035611 @default.
- W1936146191 hasConceptScore W1936146191C2781114197 @default.
- W1936146191 hasConceptScore W1936146191C28521208 @default.
- W1936146191 hasConceptScore W1936146191C501734568 @default.
- W1936146191 hasConceptScore W1936146191C54355233 @default.
- W1936146191 hasConceptScore W1936146191C86803240 @default.
- W1936146191 hasLocation W19361461911 @default.
- W1936146191 hasLocation W19361461912 @default.
- W1936146191 hasLocation W19361461913 @default.
- W1936146191 hasOpenAccess W1936146191 @default.
- W1936146191 hasPrimaryLocation W19361461911 @default.
- W1936146191 hasRelatedWork W1589286754 @default.
- W1936146191 hasRelatedWork W1986126870 @default.
- W1936146191 hasRelatedWork W203359011 @default.
- W1936146191 hasRelatedWork W2081345991 @default.
- W1936146191 hasRelatedWork W2149447718 @default.
- W1936146191 hasRelatedWork W2168345599 @default.
- W1936146191 hasRelatedWork W2171238683 @default.
- W1936146191 hasRelatedWork W2415636737 @default.
- W1936146191 hasRelatedWork W2981539366 @default.
- W1936146191 hasRelatedWork W3205519658 @default.
- W1936146191 isParatext "false" @default.
- W1936146191 isRetracted "false" @default.
- W1936146191 magId "1936146191" @default.
- W1936146191 workType "book-chapter" @default.