FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2143807925> ?p ?o ?g. }

• W2143807925 endingPage "3363" @default.
• W2143807925 startingPage "3363" @default.
• W2143807925 abstract "purpose. To identify the gene responsible for a complex ocular phenotype of late-onset macular degeneration, long anterior zonules (LAZ), and elevated intraocular pressure (IOP) and to study its expression. methods. Ocular examination, visual field, fluorescein angiography, and electrophysiology testing were performed. One affected individual was treated with vitamin A. DNA from 55 family members (UM:H389) was used for linkage, mapping, and mutation analysis. Linkage analysis of macular degeneration and LAZ phenotypes was performed independently. Mutations in candidate genes were screened by sequencing. mRNA expression of CTRP5 and MFRP, which are bicistronic genes, was studied by semiquantitative RT-PCR (qRT-PCR) in various human tissues. CTRP5 expression was also evaluated by in situ hybridization. results. Affected members had LAZ detectable by the third decade and/or macular degeneration by the fourth to fifth decade. A six-month treatment with vitamin A shortened dark adaptation considerably in one affected member. Both conditions mapped independently with zero recombination to 11q23, with maximum lod scores of 3.31 for macular degeneration and 5.41 for LAZ. The same CTRP5 missense mutation was identified in all affected individuals. Retinal pigment epithelium (RPE) and ciliary epithelium (CE) showed highest CTRP5 transcript expression, which was also true for MFRP. CTRP5 tissue expression was confirmed by in situ hybridization. conclusions. A single locus at 11q23 is implicated in a complex ocular phenotype involving RPE and CE, tissues of neuroectodermal origin. All individuals with either LAZ and/or macular degeneration carry the same CTRP5 S163R mutation, which is transmitted in autosomal dominant manner." @default.
• W2143807925 created "2016-06-24" @default.
• W2143807925 creator A5005554901 @default.
• W2143807925 creator A5011171560 @default.
• W2143807925 creator A5021080199 @default.
• W2143807925 creator A5023284312 @default.
• W2143807925 creator A5031258457 @default.
• W2143807925 creator A5034848384 @default.
• W2143807925 creator A5035264507 @default.
• W2143807925 creator A5046102651 @default.
• W2143807925 creator A5046860281 @default.
• W2143807925 creator A5075755536 @default.
• W2143807925 creator A5081971877 @default.
• W2143807925 creator A5090443674 @default.
• W2143807925 date "2005-09-01" @default.
• W2143807925 modified "2023-10-16" @default.
• W2143807925 title "Late-Onset Macular Degeneration and Long Anterior Lens Zonules Result from a<i>CTRP5</i>Gene Mutation" @default.
• W2143807925 cites W1501706589 @default.
• W2143807925 cites W1513390390 @default.
• W2143807925 cites W1560126620 @default.
• W2143807925 cites W1562353524 @default.
• W2143807925 cites W1563557384 @default.
• W2143807925 cites W1598427951 @default.
• W2143807925 cites W1602076901 @default.
• W2143807925 cites W1972574954 @default.
• W2143807925 cites W1972967037 @default.
• W2143807925 cites W1973036253 @default.
• W2143807925 cites W1978082565 @default.
• W2143807925 cites W1982102429 @default.
• W2143807925 cites W1983354967 @default.
• W2143807925 cites W1988156393 @default.
• W2143807925 cites W1990509128 @default.
• W2143807925 cites W1993542347 @default.
• W2143807925 cites W1994423710 @default.
• W2143807925 cites W1998557678 @default.
• W2143807925 cites W2010049157 @default.
• W2143807925 cites W2012772000 @default.
• W2143807925 cites W2016659650 @default.
• W2143807925 cites W2018569959 @default.
• W2143807925 cites W2026388693 @default.
• W2143807925 cites W2033576301 @default.
• W2143807925 cites W2037302397 @default.
• W2143807925 cites W2041625092 @default.
• W2143807925 cites W2041677550 @default.
• W2143807925 cites W2042376005 @default.
• W2143807925 cites W2044742257 @default.
• W2143807925 cites W2052214660 @default.
• W2143807925 cites W2053146170 @default.
• W2143807925 cites W2058519386 @default.
• W2143807925 cites W2062162775 @default.
• W2143807925 cites W2062731252 @default.
• W2143807925 cites W2064703228 @default.
• W2143807925 cites W2066751658 @default.
• W2143807925 cites W2068758505 @default.
• W2143807925 cites W2072998680 @default.
• W2143807925 cites W2076507662 @default.
• W2143807925 cites W2078696404 @default.
• W2143807925 cites W2079492574 @default.
• W2143807925 cites W2084597173 @default.
• W2143807925 cites W2089221493 @default.
• W2143807925 cites W2096201017 @default.
• W2143807925 cites W2097635438 @default.
• W2143807925 cites W2099594423 @default.
• W2143807925 cites W2101414552 @default.
• W2143807925 cites W2111852904 @default.
• W2143807925 cites W2129572698 @default.
• W2143807925 cites W2134058365 @default.
• W2143807925 cites W2150285802 @default.
• W2143807925 cites W2152614339 @default.
• W2143807925 cites W2155236757 @default.
• W2143807925 cites W2168033883 @default.
• W2143807925 cites W2171236632 @default.
• W2143807925 cites W2330023001 @default.
• W2143807925 cites W51163154 @default.
• W2143807925 doi "https://doi.org/10.1167/iovs.05-0159" @default.
• W2143807925 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16123441" @default.
• W2143807925 hasPublicationYear "2005" @default.
• W2143807925 type Work @default.
• W2143807925 sameAs 2143807925 @default.
• W2143807925 citedByCount "106" @default.
• W2143807925 countsByYear W21438079252012 @default.
• W2143807925 countsByYear W21438079252013 @default.
• W2143807925 countsByYear W21438079252014 @default.
• W2143807925 countsByYear W21438079252015 @default.
• W2143807925 countsByYear W21438079252016 @default.
• W2143807925 countsByYear W21438079252017 @default.
• W2143807925 countsByYear W21438079252018 @default.
• W2143807925 countsByYear W21438079252019 @default.
• W2143807925 countsByYear W21438079252020 @default.
• W2143807925 countsByYear W21438079252021 @default.
• W2143807925 countsByYear W21438079252022 @default.
• W2143807925 countsByYear W21438079252023 @default.
• W2143807925 crossrefType "journal-article" @default.
• W2143807925 hasAuthorship W2143807925A5005554901 @default.
• W2143807925 hasAuthorship W2143807925A5011171560 @default.
• W2143807925 hasAuthorship W2143807925A5021080199 @default.
• W2143807925 hasAuthorship W2143807925A5023284312 @default.
• W2143807925 hasAuthorship W2143807925A5031258457 @default.

• next