FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2280740767> ?p ?o ?g. }

• W2280740767 endingPage "8" @default.
• W2280740767 startingPage "170" @default.
• W2280740767 abstract "Maturity-onset diabetes of the young (MODY) is a heterogeneous entity of monogenic disorders characterized by autosomal dominant inheritance. Eleven genes were related, including HNF4α, GCK, HNF1α, IPF1, and HNF-1β, and various mutations are being reported.To help the overall understanding of MODY-related pathologic mutations, we studied a large MODY family found in 2012, in Shandong, China, which contained 9 patients over 3 generations. DNA was extracted from the periphery blood samples of (i) 9 affected members, (ii) 17 unaffected members, and (iii) 1000 healthy controls. Three pooled samples were obtained by mixing equal quantity of DNA of each individual within the each group. Totally 400 microsatellite markers across the whole genome were genotyped by capillary electrophoresis. The known MODY-related gene near the identified marker was sequenced to look for putative risk variants.Allelic frequency of marker D17S798 on chromosome 17q11.2 were significantly different (P<0.001) between the affected vs. unaffected members and the affected vs. healthy controls, but not between the unaffected members vs. healthy controls. MODY5-related gene, hepatocyte nuclear factor-1β (HNF-1β) on 17q12 near D17S798 became the candidate gene. A single nucleotide variant (SNV) of C77T in the non-coding area of exon 1 of HNF-1β was found to be related to MODY5.This novel SNV of HNF-1β contributes to the diabetes development in the family through regulating gene expression most likely. The findings help presymptomatic diagnosis, and imply that mutations in the non-coding areas, as well as in the exons, play roles in the etiology of MODY." @default.
• W2280740767 created "2016-06-24" @default.
• W2280740767 creator A5004638032 @default.
• W2280740767 creator A5006128508 @default.
• W2280740767 creator A5014963859 @default.
• W2280740767 creator A5020746135 @default.
• W2280740767 creator A5020871478 @default.
• W2280740767 creator A5029797911 @default.
• W2280740767 creator A5033532580 @default.
• W2280740767 creator A5034863656 @default.
• W2280740767 creator A5083251487 @default.
• W2280740767 creator A5085189920 @default.
• W2280740767 creator A5091411168 @default.
• W2280740767 date "2016-02-01" @default.
• W2280740767 modified "2023-10-12" @default.
• W2280740767 title "A Single Nucleotide Variant in HNF-1β is Associated with Maturity-Onset Diabetes of the Young in a Large Chinese Family." @default.
• W2280740767 cites W114755207 @default.
• W2280740767 cites W1554674805 @default.
• W2280740767 cites W1808498188 @default.
• W2280740767 cites W1924896315 @default.
• W2280740767 cites W1965265115 @default.
• W2280740767 cites W1966252841 @default.
• W2280740767 cites W1974430147 @default.
• W2280740767 cites W1976002091 @default.
• W2280740767 cites W1977920296 @default.
• W2280740767 cites W1980405692 @default.
• W2280740767 cites W1989465060 @default.
• W2280740767 cites W1993667769 @default.
• W2280740767 cites W1993849144 @default.
• W2280740767 cites W2006496478 @default.
• W2280740767 cites W2011115187 @default.
• W2280740767 cites W2020156658 @default.
• W2280740767 cites W2022635471 @default.
• W2280740767 cites W2024897882 @default.
• W2280740767 cites W2031199689 @default.
• W2280740767 cites W2036937368 @default.
• W2280740767 cites W2040224852 @default.
• W2280740767 cites W2050002116 @default.
• W2280740767 cites W2050455735 @default.
• W2280740767 cites W2062249625 @default.
• W2280740767 cites W2063909610 @default.
• W2280740767 cites W2079532095 @default.
• W2280740767 cites W2081934885 @default.
• W2280740767 cites W2097504226 @default.
• W2280740767 cites W2099057503 @default.
• W2280740767 cites W2111217461 @default.
• W2280740767 cites W2142249249 @default.
• W2280740767 cites W2152591650 @default.
• W2280740767 cites W2153107741 @default.
• W2280740767 cites W2155506227 @default.
• W2280740767 cites W2156093494 @default.
• W2280740767 cites W2160570394 @default.
• W2280740767 cites W2418118701 @default.
• W2280740767 cites W4213018424 @default.
• W2280740767 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4841871" @default.
• W2280740767 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/27114981" @default.
• W2280740767 hasPublicationYear "2016" @default.
• W2280740767 type Work @default.
• W2280740767 sameAs 2280740767 @default.
• W2280740767 citedByCount "0" @default.
• W2280740767 crossrefType "journal-article" @default.
• W2280740767 hasAuthorship W2280740767A5004638032 @default.
• W2280740767 hasAuthorship W2280740767A5006128508 @default.
• W2280740767 hasAuthorship W2280740767A5014963859 @default.
• W2280740767 hasAuthorship W2280740767A5020746135 @default.
• W2280740767 hasAuthorship W2280740767A5020871478 @default.
• W2280740767 hasAuthorship W2280740767A5029797911 @default.
• W2280740767 hasAuthorship W2280740767A5033532580 @default.
• W2280740767 hasAuthorship W2280740767A5034863656 @default.
• W2280740767 hasAuthorship W2280740767A5083251487 @default.
• W2280740767 hasAuthorship W2280740767A5085189920 @default.
• W2280740767 hasAuthorship W2280740767A5091411168 @default.
• W2280740767 hasConcept C104317684 @default.
• W2280740767 hasConcept C135763542 @default.
• W2280740767 hasConcept C153209595 @default.
• W2280740767 hasConcept C161600633 @default.
• W2280740767 hasConcept C180754005 @default.
• W2280740767 hasConcept C2780203522 @default.
• W2280740767 hasConcept C36823959 @default.
• W2280740767 hasConcept C501734568 @default.
• W2280740767 hasConcept C54355233 @default.
• W2280740767 hasConcept C61320498 @default.
• W2280740767 hasConcept C86803240 @default.
• W2280740767 hasConceptScore W2280740767C104317684 @default.
• W2280740767 hasConceptScore W2280740767C135763542 @default.
• W2280740767 hasConceptScore W2280740767C153209595 @default.
• W2280740767 hasConceptScore W2280740767C161600633 @default.
• W2280740767 hasConceptScore W2280740767C180754005 @default.
• W2280740767 hasConceptScore W2280740767C2780203522 @default.
• W2280740767 hasConceptScore W2280740767C36823959 @default.
• W2280740767 hasConceptScore W2280740767C501734568 @default.
• W2280740767 hasConceptScore W2280740767C54355233 @default.
• W2280740767 hasConceptScore W2280740767C61320498 @default.
• W2280740767 hasConceptScore W2280740767C86803240 @default.
• W2280740767 hasIssue "2" @default.
• W2280740767 hasLocation W22807407671 @default.
• W2280740767 hasOpenAccess W2280740767 @default.
• W2280740767 hasPrimaryLocation W22807407671 @default.

• next