Matches in SemOpenAlex for { <https://semopenalex.org/work/W2012693963> ?p ?o ?g. }
Showing items 1 to 95 of
95
with 100 items per page.
- W2012693963 endingPage "562" @default.
- W2012693963 startingPage "556" @default.
- W2012693963 abstract "Uroporphyrinogen-III synthase (URO-S; EC 4.2.1.75), the fourth enzyme in the heme biosynthetic pathway, is responsible for the conversion of hydroxymethylbilane to the cyclic tetrapyrrole, uroporphyrinogen III. The deficient activity of URO-S is the enzymatic defect in congenital erythropoietic porphyria (CEP), an autosomal recessive disorder. For the generation of a mouse model of CEP, the human URO-S cDNA was used to screen 2 × 106 recombinants from a mouse adult liver cDNA library. Ten positive clones were isolated, and dideoxy sequencing of the entire 1.6-kb insert of clone pmUROS-1 revealed 5′ and 3′ untranslated sequences of 144 and 623 bp, respectively, and an open reading frame of 798 bp encoding a 265-amino-acid polypeptide with a predicted molecular mass of 28,501 Da. The mouse and human coding sequences had 80.5 and 77.8% nucleotide and amino acid identity, respectively. The authenticity of the mouse cDNA was established by expression of the active monomeric enzyme in Escherichia coli. In addition, the analysis of two multilocus genetic crosses localized the mouse gene on chromosome 7, consistent with the mapping of the human gene to a position of conserved synteny on chromosome 10. The isolation, expression, and chromosomal mapping of this full-length cDNA should facilitate studies of the structure and organization of the mouse genomic sequence and the development of a mouse model of CEP for characterization of the disease pathogenesis and evaluation of gene therapy." @default.
- W2012693963 created "2016-06-24" @default.
- W2012693963 creator A5003489924 @default.
- W2012693963 creator A5034224042 @default.
- W2012693963 creator A5090900773 @default.
- W2012693963 date "1995-04-01" @default.
- W2012693963 modified "2023-10-03" @default.
- W2012693963 title "Uroporphyrinogen-III synthase: molecular cloning, nucleotide sequence, expression of a mouse full-length cDNA, and its localization on mouse chromosome 7" @default.
- W2012693963 cites W1524486557 @default.
- W2012693963 cites W1564307376 @default.
- W2012693963 cites W1567122469 @default.
- W2012693963 cites W1792579393 @default.
- W2012693963 cites W1893492623 @default.
- W2012693963 cites W1903358508 @default.
- W2012693963 cites W1970488666 @default.
- W2012693963 cites W1975758038 @default.
- W2012693963 cites W1990148701 @default.
- W2012693963 cites W1990865765 @default.
- W2012693963 cites W1991070996 @default.
- W2012693963 cites W1994145379 @default.
- W2012693963 cites W2017469581 @default.
- W2012693963 cites W2021601368 @default.
- W2012693963 cites W2032118018 @default.
- W2012693963 cites W2042693018 @default.
- W2012693963 cites W2042875109 @default.
- W2012693963 cites W2065075035 @default.
- W2012693963 cites W2065702732 @default.
- W2012693963 cites W2068360234 @default.
- W2012693963 cites W2070311991 @default.
- W2012693963 cites W2090981710 @default.
- W2012693963 cites W2094547651 @default.
- W2012693963 cites W2124912230 @default.
- W2012693963 cites W2135409118 @default.
- W2012693963 cites W2138270253 @default.
- W2012693963 cites W2140339809 @default.
- W2012693963 cites W2160442132 @default.
- W2012693963 cites W2161273461 @default.
- W2012693963 cites W4243462095 @default.
- W2012693963 cites W4254839445 @default.
- W2012693963 doi "https://doi.org/10.1016/0888-7543(95)80175-l" @default.
- W2012693963 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/7607680" @default.
- W2012693963 hasPublicationYear "1995" @default.
- W2012693963 type Work @default.
- W2012693963 sameAs 2012693963 @default.
- W2012693963 citedByCount "17" @default.
- W2012693963 countsByYear W20126939632013 @default.
- W2012693963 countsByYear W20126939632016 @default.
- W2012693963 crossrefType "journal-article" @default.
- W2012693963 hasAuthorship W2012693963A5003489924 @default.
- W2012693963 hasAuthorship W2012693963A5034224042 @default.
- W2012693963 hasAuthorship W2012693963A5090900773 @default.
- W2012693963 hasConcept C104317684 @default.
- W2012693963 hasConcept C122735190 @default.
- W2012693963 hasConcept C153911025 @default.
- W2012693963 hasConcept C187882448 @default.
- W2012693963 hasConcept C189482833 @default.
- W2012693963 hasConcept C19924922 @default.
- W2012693963 hasConcept C30481170 @default.
- W2012693963 hasConcept C54355233 @default.
- W2012693963 hasConcept C84148353 @default.
- W2012693963 hasConcept C86803240 @default.
- W2012693963 hasConcept C91779695 @default.
- W2012693963 hasConceptScore W2012693963C104317684 @default.
- W2012693963 hasConceptScore W2012693963C122735190 @default.
- W2012693963 hasConceptScore W2012693963C153911025 @default.
- W2012693963 hasConceptScore W2012693963C187882448 @default.
- W2012693963 hasConceptScore W2012693963C189482833 @default.
- W2012693963 hasConceptScore W2012693963C19924922 @default.
- W2012693963 hasConceptScore W2012693963C30481170 @default.
- W2012693963 hasConceptScore W2012693963C54355233 @default.
- W2012693963 hasConceptScore W2012693963C84148353 @default.
- W2012693963 hasConceptScore W2012693963C86803240 @default.
- W2012693963 hasConceptScore W2012693963C91779695 @default.
- W2012693963 hasIssue "3" @default.
- W2012693963 hasLocation W20126939631 @default.
- W2012693963 hasLocation W20126939632 @default.
- W2012693963 hasOpenAccess W2012693963 @default.
- W2012693963 hasPrimaryLocation W20126939631 @default.
- W2012693963 hasRelatedWork W1532585817 @default.
- W2012693963 hasRelatedWork W1973368414 @default.
- W2012693963 hasRelatedWork W1997548741 @default.
- W2012693963 hasRelatedWork W2022776676 @default.
- W2012693963 hasRelatedWork W2026069777 @default.
- W2012693963 hasRelatedWork W2035178353 @default.
- W2012693963 hasRelatedWork W2049405885 @default.
- W2012693963 hasRelatedWork W2064741419 @default.
- W2012693963 hasRelatedWork W2382767778 @default.
- W2012693963 hasRelatedWork W2412735115 @default.
- W2012693963 hasVolume "26" @default.
- W2012693963 isParatext "false" @default.
- W2012693963 isRetracted "false" @default.
- W2012693963 magId "2012693963" @default.
- W2012693963 workType "article" @default.