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• W2910362802 startingPage "332" @default.
• W2910362802 abstract "Mouse models of the human porphyrias have proven useful for investigations of disease pathogenesis and to facilitate the development of new therapeutic approaches. To date, mouse models have been generated for all major porphyrias, with the exception of X-linked protoporphyria (XLP) and the ultra rare 5-aminolevulinic acid dehydratase deficient porphyria (ADP). Mouse models have been generated for the three autosomal dominant acute hepatic porphyrias, acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), and variegate porphyria (VP). The AIP mice, in particular, provide a useful investigative model as they have been shown to have acute biochemical attacks when induced with the prototypic porphyrinogenic drug, phenobarbital. In addition to providing important insights into the disease pathogenesis of the neurological impairment in AIP, these mice have been valuable for preclinical evaluation of liver-targeted gene therapy and RNAi-mediated approaches. Mice with severe HMBS deficiency, which clinically and biochemically mimic the early-onset homozygous dominant AIP (HD-AIP) patients, have been generated and were used to elucidate the striking phenotypic differences between AIP and HD-AIP. Mice modeling the hepatocutaneous porphyria, porphyria cutanea tarda (PCT), made possible the identification of the iron-dependent inhibitory mechanism of uroporphyrinogen decarboxylase (UROD) that leads to symptomatic PCT. Mouse models for the two autosomal recessive erythropoietic porphyrias, congenital erythropoietic porphyria (CEP) and erythropoeitic protoporphyria (EPP), recapitulate many of the clinical and biochemical features of the severe human diseases and have been particularly useful for evaluation of bone marrow transplantation and hematopoietic stem cell (HSC)-based gene therapy approaches. The EPP mice have also provided valuable insights into the underlying pathogenesis of EPP-induced liver damage and anemia." @default.
• W2910362802 created "2019-01-25" @default.
• W2910362802 creator A5051170575 @default.
• W2910362802 creator A5090900773 @default.
• W2910362802 date "2019-11-01" @default.
• W2910362802 modified "2023-10-17" @default.
• W2910362802 title "Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies" @default.
• W2910362802 cites W118563286 @default.
• W2910362802 cites W1269501328 @default.
• W2910362802 cites W1480965863 @default.
• W2910362802 cites W176201144 @default.
• W2910362802 cites W1900202701 @default.
• W2910362802 cites W1963890030 @default.
• W2910362802 cites W1969677846 @default.
• W2910362802 cites W1974135984 @default.
• W2910362802 cites W1974504902 @default.
• W2910362802 cites W1974736158 @default.
• W2910362802 cites W1978510012 @default.
• W2910362802 cites W1978640323 @default.
• W2910362802 cites W1985920798 @default.
• W2910362802 cites W1994999960 @default.
• W2910362802 cites W2006648642 @default.
• W2910362802 cites W2012447814 @default.
• W2910362802 cites W2014407683 @default.
• W2910362802 cites W2014593263 @default.
• W2910362802 cites W2015886351 @default.
• W2910362802 cites W2018684385 @default.
• W2910362802 cites W2023232193 @default.
• W2910362802 cites W2026574407 @default.
• W2910362802 cites W2029503711 @default.
• W2910362802 cites W2029507842 @default.
• W2910362802 cites W2034973225 @default.
• W2910362802 cites W2035813221 @default.
• W2910362802 cites W2036370236 @default.
• W2910362802 cites W2037956369 @default.
• W2910362802 cites W2038956631 @default.
• W2910362802 cites W2040306545 @default.
• W2910362802 cites W2041000301 @default.
• W2910362802 cites W2043388469 @default.
• W2910362802 cites W2046704469 @default.
• W2910362802 cites W2047913421 @default.
• W2910362802 cites W2048541682 @default.
• W2910362802 cites W2058754906 @default.
• W2910362802 cites W2061763344 @default.
• W2910362802 cites W2063343728 @default.
• W2910362802 cites W2069360361 @default.
• W2910362802 cites W2073976635 @default.
• W2910362802 cites W2074668222 @default.
• W2910362802 cites W2085275949 @default.
• W2910362802 cites W2087731685 @default.
• W2910362802 cites W2088576571 @default.
• W2910362802 cites W2090312176 @default.
• W2910362802 cites W2102339251 @default.
• W2910362802 cites W2104766092 @default.
• W2910362802 cites W2115593947 @default.
• W2910362802 cites W2117259581 @default.
• W2910362802 cites W2120909700 @default.
• W2910362802 cites W2125843584 @default.
• W2910362802 cites W2127749841 @default.
• W2910362802 cites W2128891374 @default.
• W2910362802 cites W2134264887 @default.
• W2910362802 cites W2148599030 @default.
• W2910362802 cites W2154324288 @default.
• W2910362802 cites W2156152832 @default.
• W2910362802 cites W2157482312 @default.
• W2910362802 cites W2158106890 @default.
• W2910362802 cites W2158779847 @default.
• W2910362802 cites W2159500294 @default.
• W2910362802 cites W2164087025 @default.
• W2910362802 cites W2168169314 @default.
• W2910362802 cites W2180660046 @default.
• W2910362802 cites W2208139551 @default.
• W2910362802 cites W2238922603 @default.
• W2910362802 cites W2254113155 @default.
• W2910362802 cites W2312957424 @default.
• W2910362802 cites W2314262618 @default.
• W2910362802 cites W238185232 @default.
• W2910362802 cites W2398306036 @default.
• W2910362802 cites W2409156875 @default.
• W2910362802 cites W2410908769 @default.
• W2910362802 cites W2418317692 @default.
• W2910362802 cites W2418785675 @default.
• W2910362802 cites W2552200975 @default.
• W2910362802 cites W2573203476 @default.
• W2910362802 cites W2624485373 @default.
• W2910362802 cites W2761959685 @default.
• W2910362802 cites W2768999031 @default.
• W2910362802 cites W2790022905 @default.
• W2910362802 cites W2886123580 @default.
• W2910362802 cites W2889694740 @default.
• W2910362802 cites W2895539268 @default.
• W2910362802 cites W2909224741 @default.
• W2910362802 cites W30013491 @default.
• W2910362802 cites W3189899230 @default.
• W2910362802 cites W4210973172 @default.
• W2910362802 cites W4246090788 @default.
• W2910362802 cites W4253599714 @default.
• W2910362802 cites W73244405 @default.

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