FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1991456979> ?p ?o ?g. }

• W1991456979 endingPage "386" @default.
• W1991456979 startingPage "377" @default.
• W1991456979 abstract "Carnitine palmitoyltransferase II (CPT II) deficiency manifests as two different clinical phenotypes: a muscular form and a hepatic form. We have investigated three nonconsanguineous Japanese patients with CPT II deficiency. Molecular analysis revealed two missense mutations, a glutamate (174)-to-lysine substitution (E174K) and a phenylalanine (383)-to-tyrosine substitution (F383Y) in the CPT II cDNA. Transfection experiments in COS-1 cells demonstrated that the two mutations markedly decreased the catalytic activity of mutant CPT II. Case 1 (hepatic form) was homozygous for the F383Y mutation, whereas case 3 (muscular form) was homozygous for the E174K mutation. Case 2 and her brother, who were compound heterozygotes for E174K and F383Y, exhibited the hepatic phenotype. We also identified a novel polymorphism in the CPT2 gene, a phenylalanine (352)-to-cysteine substitution (F352C), which did not alter CPT II activity in transfected cells. It was present in 21 out of 100 normal alleles in the Japanese population, but absent in Caucasian populations. Genotyping with the F352C polymorphism and the two previously reported polymorphisms, V368I and M647V, allowed normal Japanese alleles to be classified into five haplotypes. In all three families with CPT II deficiency, the E174K mutation resided only on the F1V1M1 allele, whereas the F383Y mutation was observed on the F2V2M1 allele, suggesting a single origin for each mutation." @default.
• W1991456979 created "2016-06-24" @default.
• W1991456979 creator A5003185407 @default.
• W1991456979 creator A5026251392 @default.
• W1991456979 creator A5029405594 @default.
• W1991456979 creator A5037070650 @default.
• W1991456979 creator A5043233092 @default.
• W1991456979 creator A5055080412 @default.
• W1991456979 creator A5056248269 @default.
• W1991456979 creator A5057165442 @default.
• W1991456979 creator A5060474613 @default.
• W1991456979 creator A5073879473 @default.
• W1991456979 creator A5090106620 @default.
• W1991456979 date "1998-01-01" @default.
• W1991456979 modified "2023-09-26" @default.
• W1991456979 title "TwoCPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes" @default.
• W1991456979 cites W1502765874 @default.
• W1991456979 cites W1592955275 @default.
• W1991456979 cites W185697871 @default.
• W1991456979 cites W1965614986 @default.
• W1991456979 cites W1972597614 @default.
• W1991456979 cites W1983653450 @default.
• W1991456979 cites W1989095625 @default.
• W1991456979 cites W2012866642 @default.
• W1991456979 cites W2016408839 @default.
• W1991456979 cites W2033446692 @default.
• W1991456979 cites W2041885357 @default.
• W1991456979 cites W2048408401 @default.
• W1991456979 cites W2055491148 @default.
• W1991456979 cites W2059857586 @default.
• W1991456979 cites W2063011611 @default.
• W1991456979 cites W2063659004 @default.
• W1991456979 cites W2080229128 @default.
• W1991456979 cites W2083998619 @default.
• W1991456979 cites W2088421450 @default.
• W1991456979 cites W2125417149 @default.
• W1991456979 cites W2341162657 @default.
• W1991456979 cites W4205775889 @default.
• W1991456979 doi "https://doi.org/10.1002/(sici)1098-1004(1998)11:5<377::aid-humu5>3.0.co;2-e" @default.
• W1991456979 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9600456" @default.
• W1991456979 hasPublicationYear "1998" @default.
• W1991456979 type Work @default.
• W1991456979 sameAs 1991456979 @default.
• W1991456979 citedByCount "57" @default.
• W1991456979 countsByYear W19914569792012 @default.
• W1991456979 countsByYear W19914569792013 @default.
• W1991456979 countsByYear W19914569792014 @default.
• W1991456979 countsByYear W19914569792015 @default.
• W1991456979 countsByYear W19914569792016 @default.
• W1991456979 countsByYear W19914569792017 @default.
• W1991456979 countsByYear W19914569792018 @default.
• W1991456979 countsByYear W19914569792020 @default.
• W1991456979 countsByYear W19914569792021 @default.
• W1991456979 countsByYear W19914569792022 @default.
• W1991456979 crossrefType "journal-article" @default.
• W1991456979 hasAuthorship W1991456979A5003185407 @default.
• W1991456979 hasAuthorship W1991456979A5026251392 @default.
• W1991456979 hasAuthorship W1991456979A5029405594 @default.
• W1991456979 hasAuthorship W1991456979A5037070650 @default.
• W1991456979 hasAuthorship W1991456979A5043233092 @default.
• W1991456979 hasAuthorship W1991456979A5055080412 @default.
• W1991456979 hasAuthorship W1991456979A5056248269 @default.
• W1991456979 hasAuthorship W1991456979A5057165442 @default.
• W1991456979 hasAuthorship W1991456979A5060474613 @default.
• W1991456979 hasAuthorship W1991456979A5073879473 @default.
• W1991456979 hasAuthorship W1991456979A5090106620 @default.
• W1991456979 hasConcept C104317684 @default.
• W1991456979 hasConcept C12125453 @default.
• W1991456979 hasConcept C153911025 @default.
• W1991456979 hasConcept C180754005 @default.
• W1991456979 hasConcept C197754878 @default.
• W1991456979 hasConcept C207009774 @default.
• W1991456979 hasConcept C2777431362 @default.
• W1991456979 hasConcept C501734568 @default.
• W1991456979 hasConcept C515207424 @default.
• W1991456979 hasConcept C54355233 @default.
• W1991456979 hasConcept C75563809 @default.
• W1991456979 hasConcept C86803240 @default.
• W1991456979 hasConceptScore W1991456979C104317684 @default.
• W1991456979 hasConceptScore W1991456979C12125453 @default.
• W1991456979 hasConceptScore W1991456979C153911025 @default.
• W1991456979 hasConceptScore W1991456979C180754005 @default.
• W1991456979 hasConceptScore W1991456979C197754878 @default.
• W1991456979 hasConceptScore W1991456979C207009774 @default.
• W1991456979 hasConceptScore W1991456979C2777431362 @default.
• W1991456979 hasConceptScore W1991456979C501734568 @default.
• W1991456979 hasConceptScore W1991456979C515207424 @default.
• W1991456979 hasConceptScore W1991456979C54355233 @default.
• W1991456979 hasConceptScore W1991456979C75563809 @default.
• W1991456979 hasConceptScore W1991456979C86803240 @default.
• W1991456979 hasIssue "5" @default.
• W1991456979 hasLocation W19914569791 @default.
• W1991456979 hasLocation W19914569792 @default.
• W1991456979 hasOpenAccess W1991456979 @default.
• W1991456979 hasPrimaryLocation W19914569791 @default.
• W1991456979 hasRelatedWork W149201682 @default.
• W1991456979 hasRelatedWork W1557510472 @default.
• W1991456979 hasRelatedWork W1975253683 @default.

• next