FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1991058523> ?p ?o ?g. }

• W1991058523 endingPage "e50737" @default.
• W1991058523 startingPage "e50737" @default.
• W1991058523 abstract "We discovered a new cataract mutation, kfrs4, in the Kyoto Fancy Rat Stock (KFRS) background. Within 1 month of birth, all kfrs4/kfrs4 homozygotes developed cataracts, with severe opacity in the nuclei of the lens. In contrast, no opacity was observed in the kfrs4/+ heterozygotes. We continued to observe these rats until they reached 1 year of age and found that cataractogenesis did not occur in kfrs4/+ rats. To define the histological defects in the lenses of kfrs4 rats, sections of the eyes of these rats were prepared. Although the lenses of kfrs4/kfrs4 homozygotes showed severely disorganised fibres and vacuolation, the lenses of kfrs4/+ heterozygotes appeared normal and similar to those of wild-type rats. We used positional cloning to identify the kfrs4 mutation. The mutation was mapped to an approximately 9.7-Mb region on chromosome 7, which contains the Mip gene. This gene is responsible for a dominant form of cataract in humans and mice. Sequence analysis of the mutant-derived Mip gene identified a 5-bp insertion. This insertion is predicted to inactivate the MIP protein, as it produces a frameshift that results in the synthesis of 6 novel amino acid residues and a truncated protein that lacks 136 amino acids in the C-terminal region, and no MIP immunoreactivity was observed in the lens fibre cells of kfrs4/kfrs4 homozygous rats using an antibody that recognises the C- and N-terminus of MIP. In addition, the kfrs4/+ heterozygotes showed reduced expression of Mip mRNA and MIP protein and the kfrs4/kfrs4 homozygotes showed no expression in the lens. These results indicate that the kfrs4 mutation conveys a loss-of-function, which leads to functional inactivation though the degradation of Mip mRNA by an mRNA decay mechanism. Therefore, the kfrs4 rat represents the first characterised rat model with a recessive mutation in the Mip gene." @default.
• W1991058523 created "2016-06-24" @default.
• W1991058523 creator A5002727359 @default.
• W1991058523 creator A5007443182 @default.
• W1991058523 creator A5033614902 @default.
• W1991058523 creator A5037468891 @default.
• W1991058523 creator A5038120696 @default.
• W1991058523 creator A5059715844 @default.
• W1991058523 creator A5076783496 @default.
• W1991058523 creator A5084151540 @default.
• W1991058523 creator A5087736597 @default.
• W1991058523 creator A5091358195 @default.
• W1991058523 date "2012-11-30" @default.
• W1991058523 modified "2023-10-18" @default.
• W1991058523 title "A 5-bp Insertion in Mip Causes Recessive Congenital Cataract in KFRS4/Kyo Rats" @default.
• W1991058523 cites W1965624710 @default.
• W1991058523 cites W1969634783 @default.
• W1991058523 cites W1974595401 @default.
• W1991058523 cites W1978679800 @default.
• W1991058523 cites W1980513503 @default.
• W1991058523 cites W1987348253 @default.
• W1991058523 cites W1993361729 @default.
• W1991058523 cites W2000520241 @default.
• W1991058523 cites W2005664680 @default.
• W1991058523 cites W2012975927 @default.
• W1991058523 cites W2031953192 @default.
• W1991058523 cites W2050820564 @default.
• W1991058523 cites W2052741056 @default.
• W1991058523 cites W2056295864 @default.
• W1991058523 cites W2059160752 @default.
• W1991058523 cites W2062052339 @default.
• W1991058523 cites W2066207306 @default.
• W1991058523 cites W2093038960 @default.
• W1991058523 cites W2094417543 @default.
• W1991058523 cites W2100089193 @default.
• W1991058523 cites W2148071530 @default.
• W1991058523 cites W2389276002 @default.
• W1991058523 doi "https://doi.org/10.1371/journal.pone.0050737" @default.
• W1991058523 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3511373" @default.
• W1991058523 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23226368" @default.
• W1991058523 hasPublicationYear "2012" @default.
• W1991058523 type Work @default.
• W1991058523 sameAs 1991058523 @default.
• W1991058523 citedByCount "18" @default.
• W1991058523 countsByYear W19910585232013 @default.
• W1991058523 countsByYear W19910585232014 @default.
• W1991058523 countsByYear W19910585232015 @default.
• W1991058523 countsByYear W19910585232016 @default.
• W1991058523 countsByYear W19910585232017 @default.
• W1991058523 countsByYear W19910585232019 @default.
• W1991058523 countsByYear W19910585232020 @default.
• W1991058523 countsByYear W19910585232021 @default.
• W1991058523 countsByYear W19910585232023 @default.
• W1991058523 crossrefType "journal-article" @default.
• W1991058523 hasAuthorship W1991058523A5002727359 @default.
• W1991058523 hasAuthorship W1991058523A5007443182 @default.
• W1991058523 hasAuthorship W1991058523A5033614902 @default.
• W1991058523 hasAuthorship W1991058523A5037468891 @default.
• W1991058523 hasAuthorship W1991058523A5038120696 @default.
• W1991058523 hasAuthorship W1991058523A5059715844 @default.
• W1991058523 hasAuthorship W1991058523A5076783496 @default.
• W1991058523 hasAuthorship W1991058523A5084151540 @default.
• W1991058523 hasAuthorship W1991058523A5087736597 @default.
• W1991058523 hasAuthorship W1991058523A5091358195 @default.
• W1991058523 hasBestOaLocation W19910585231 @default.
• W1991058523 hasConcept C104317684 @default.
• W1991058523 hasConcept C12125453 @default.
• W1991058523 hasConcept C143065580 @default.
• W1991058523 hasConcept C153471976 @default.
• W1991058523 hasConcept C153911025 @default.
• W1991058523 hasConcept C180754005 @default.
• W1991058523 hasConcept C2779926675 @default.
• W1991058523 hasConcept C2780225610 @default.
• W1991058523 hasConcept C29906990 @default.
• W1991058523 hasConcept C36823959 @default.
• W1991058523 hasConcept C501734568 @default.
• W1991058523 hasConcept C54355233 @default.
• W1991058523 hasConcept C7263354 @default.
• W1991058523 hasConcept C75563809 @default.
• W1991058523 hasConcept C86803240 @default.
• W1991058523 hasConceptScore W1991058523C104317684 @default.
• W1991058523 hasConceptScore W1991058523C12125453 @default.
• W1991058523 hasConceptScore W1991058523C143065580 @default.
• W1991058523 hasConceptScore W1991058523C153471976 @default.
• W1991058523 hasConceptScore W1991058523C153911025 @default.
• W1991058523 hasConceptScore W1991058523C180754005 @default.
• W1991058523 hasConceptScore W1991058523C2779926675 @default.
• W1991058523 hasConceptScore W1991058523C2780225610 @default.
• W1991058523 hasConceptScore W1991058523C29906990 @default.
• W1991058523 hasConceptScore W1991058523C36823959 @default.
• W1991058523 hasConceptScore W1991058523C501734568 @default.
• W1991058523 hasConceptScore W1991058523C54355233 @default.
• W1991058523 hasConceptScore W1991058523C7263354 @default.
• W1991058523 hasConceptScore W1991058523C75563809 @default.
• W1991058523 hasConceptScore W1991058523C86803240 @default.
• W1991058523 hasIssue "11" @default.
• W1991058523 hasLocation W19910585231 @default.
• W1991058523 hasLocation W19910585232 @default.

• next