FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2012260162> ?p ?o ?g. }

• W2012260162 endingPage "516" @default.
• W2012260162 startingPage "509" @default.
• W2012260162 abstract "A novel mutation of insulin receptor gene (INSR gene) was identified in a three generation family with phenotypical variety. Proband was a 12-year-old Japanese girl with type A insulin resistance. She showed diabetes mellitus with severe acanthosis nigricans and hyperinsulinemia without obesity. Using direct sequencing, a heterozygous nonsense mutation causing premature termination at amino acid 331 in the alpha subunit of INSR gene (R331X) was identified. Her father, 40 years old, was not obese but showed impaired glucose tolerance. Her paternal grandmother, 66 years old, has been suffered from diabetes mellitus for 15 years. Interestingly, they had the same mutation. One case of leprechaunism bearing homozygous mutation at codon 331 was identified. These findings led to the hypothesis that R331X may contribute to the variation of DM in the general population in Japan. An extensive search was done in 272 participants in a group medical examination that included 92 healthy cases of normoglycemia and 180 cases already diagnosed type 2 DM or detected hyperglycemia. The search, however, failed to detect any R331X mutation in this local population. In addition, the proband showed low level C-peptide/insulin molar ratio, indicating that this ratio is considered to be a useful index for identifying patients with genetic insulin resistance. In conclusion, a nonsense mutation causing premature termination after amino acid 331 in the alpha subunit of the insulin receptor was identified in Japanese diabetes patients. Further investigations are called for to address the molecular mechanism." @default.
• W2012260162 created "2016-06-24" @default.
• W2012260162 creator A5000163164 @default.
• W2012260162 creator A5040548657 @default.
• W2012260162 creator A5040767294 @default.
• W2012260162 creator A5044415438 @default.
• W2012260162 creator A5044499778 @default.
• W2012260162 creator A5048621412 @default.
• W2012260162 creator A5049271110 @default.
• W2012260162 creator A5049632995 @default.
• W2012260162 creator A5052396833 @default.
• W2012260162 creator A5054844638 @default.
• W2012260162 date "2010-01-01" @default.
• W2012260162 modified "2023-10-16" @default.
• W2012260162 title "Phenotypical variety of insulin resistance in a family with a novel mutation of the insulin receptor gene" @default.
• W2012260162 cites W14436332 @default.
• W2012260162 cites W1536871283 @default.
• W2012260162 cites W1541352023 @default.
• W2012260162 cites W1607048783 @default.
• W2012260162 cites W1659512139 @default.
• W2012260162 cites W1672544146 @default.
• W2012260162 cites W1973272493 @default.
• W2012260162 cites W1973930056 @default.
• W2012260162 cites W1974554536 @default.
• W2012260162 cites W1990760293 @default.
• W2012260162 cites W1991710558 @default.
• W2012260162 cites W2001337273 @default.
• W2012260162 cites W2007698546 @default.
• W2012260162 cites W2018751358 @default.
• W2012260162 cites W2019875275 @default.
• W2012260162 cites W2022343395 @default.
• W2012260162 cites W2034493672 @default.
• W2012260162 cites W2051587973 @default.
• W2012260162 cites W2054943297 @default.
• W2012260162 cites W2080609104 @default.
• W2012260162 cites W2096291955 @default.
• W2012260162 cites W2099817971 @default.
• W2012260162 cites W2106071911 @default.
• W2012260162 cites W2109865904 @default.
• W2012260162 cites W2116117250 @default.
• W2012260162 cites W2122567567 @default.
• W2012260162 cites W2132705610 @default.
• W2012260162 cites W2138070109 @default.
• W2012260162 cites W2139091929 @default.
• W2012260162 cites W2141564414 @default.
• W2012260162 cites W2160068303 @default.
• W2012260162 cites W2340100375 @default.
• W2012260162 cites W3144777545 @default.
• W2012260162 cites W4232143823 @default.
• W2012260162 cites W4232145884 @default.
• W2012260162 doi "https://doi.org/10.1507/endocrj.k09e-339" @default.
• W2012260162 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20339196" @default.
• W2012260162 hasPublicationYear "2010" @default.
• W2012260162 type Work @default.
• W2012260162 sameAs 2012260162 @default.
• W2012260162 citedByCount "14" @default.
• W2012260162 countsByYear W20122601622012 @default.
• W2012260162 countsByYear W20122601622013 @default.
• W2012260162 countsByYear W20122601622014 @default.
• W2012260162 countsByYear W20122601622018 @default.
• W2012260162 countsByYear W20122601622019 @default.
• W2012260162 countsByYear W20122601622020 @default.
• W2012260162 countsByYear W20122601622021 @default.
• W2012260162 countsByYear W20122601622022 @default.
• W2012260162 countsByYear W20122601622023 @default.
• W2012260162 crossrefType "journal-article" @default.
• W2012260162 hasAuthorship W2012260162A5000163164 @default.
• W2012260162 hasAuthorship W2012260162A5040548657 @default.
• W2012260162 hasAuthorship W2012260162A5040767294 @default.
• W2012260162 hasAuthorship W2012260162A5044415438 @default.
• W2012260162 hasAuthorship W2012260162A5044499778 @default.
• W2012260162 hasAuthorship W2012260162A5048621412 @default.
• W2012260162 hasAuthorship W2012260162A5049271110 @default.
• W2012260162 hasAuthorship W2012260162A5049632995 @default.
• W2012260162 hasAuthorship W2012260162A5052396833 @default.
• W2012260162 hasAuthorship W2012260162A5054844638 @default.
• W2012260162 hasBestOaLocation W20122601621 @default.
• W2012260162 hasConcept C104317684 @default.
• W2012260162 hasConcept C112446052 @default.
• W2012260162 hasConcept C126322002 @default.
• W2012260162 hasConcept C134018914 @default.
• W2012260162 hasConcept C188997412 @default.
• W2012260162 hasConcept C2777180221 @default.
• W2012260162 hasConcept C2777391703 @default.
• W2012260162 hasConcept C2777705978 @default.
• W2012260162 hasConcept C2779306644 @default.
• W2012260162 hasConcept C2780988686 @default.
• W2012260162 hasConcept C2908647359 @default.
• W2012260162 hasConcept C2910068830 @default.
• W2012260162 hasConcept C501734568 @default.
• W2012260162 hasConcept C54355233 @default.
• W2012260162 hasConcept C555293320 @default.
• W2012260162 hasConcept C71924100 @default.
• W2012260162 hasConcept C75563809 @default.
• W2012260162 hasConcept C86803240 @default.
• W2012260162 hasConcept C96777560 @default.
• W2012260162 hasConcept C99454951 @default.
• W2012260162 hasConceptScore W2012260162C104317684 @default.

• next