FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2010639763> ?p ?o ?g. }

• W2010639763 endingPage "278" @default.
• W2010639763 startingPage "273" @default.
• W2010639763 abstract "Mutations in the COL4A3/COL4A4 genes of type IV collagen account for about 40% of cases of thin basement membrane nephropathy, a condition that is estimated to affect 1% or more of the general population. We recently described 10 Cypriot families with familial hematuria and thin basement membrane nephropathy in the presence of focal segmental glomerulosclerosis, with founder mutations on COL4A3 gene. Seven of the families carried mutation G1334E on haplotype K, and another three carried mutation G871C on haplotype Ky. In this report we performed extension of the haplotypes with additional polymorphic markers, 12 for haplotype K and 22 for haplotype Ky, to estimate the linkage disequilibrium value between the mutation and flanking noncommon markers. Haplotype Ky extended to 13.71 Mb, but we did not attempt further analysis owing to the small number of chromosomes. Haplotype K extended to 3.83 Mb, thereby suggesting that it was a much older event compared to mutation G871C. Mutation G1334E was calculated to be about 5-10 generations old with a possible origin between 1693 and 1818 AD, during the Ottoman ruling of the island. Both mutations are clustered in specific geographic regions with apparently formerly isolated populations, although mutation G1334E has been detected elsewhere on the island. The identification of founder mutations in large families with microscopic hematuria greatly facilitates presymptomatic diagnosis and provides useful information on the history of the population, while it may also assist in association studies in search for disease modifier genes." @default.
• W2010639763 created "2016-06-24" @default.
• W2010639763 creator A5029748749 @default.
• W2010639763 creator A5031511098 @default.
• W2010639763 creator A5048901221 @default.
• W2010639763 creator A5079161216 @default.
• W2010639763 date "2008-06-01" @default.
• W2010639763 modified "2023-10-16" @default.
• W2010639763 title "<i>COL4A3</i>Founder Mutations in Greek-Cypriot Families with Thin Basement Membrane Nephropathy and Focal Segmental Glomerulosclerosis Dating from Around 18th Century" @default.
• W2010639763 cites W1967134623 @default.
• W2010639763 cites W1979044332 @default.
• W2010639763 cites W1981959772 @default.
• W2010639763 cites W1983868772 @default.
• W2010639763 cites W2001569772 @default.
• W2010639763 cites W2002983130 @default.
• W2010639763 cites W2005026678 @default.
• W2010639763 cites W2022177992 @default.
• W2010639763 cites W2022227421 @default.
• W2010639763 cites W2029433163 @default.
• W2010639763 cites W2031098987 @default.
• W2010639763 cites W2054225562 @default.
• W2010639763 cites W2058246645 @default.
• W2010639763 cites W2071844844 @default.
• W2010639763 cites W2106091175 @default.
• W2010639763 cites W2110230080 @default.
• W2010639763 cites W2114725627 @default.
• W2010639763 cites W2127383350 @default.
• W2010639763 cites W2135094836 @default.
• W2010639763 cites W2139404928 @default.
• W2010639763 cites W2140277420 @default.
• W2010639763 cites W2152238541 @default.
• W2010639763 cites W2154317192 @default.
• W2010639763 cites W2158708663 @default.
• W2010639763 cites W2160163702 @default.
• W2010639763 cites W2162378662 @default.
• W2010639763 cites W4236595768 @default.
• W2010639763 doi "https://doi.org/10.1089/gte.2007.0110" @default.
• W2010639763 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/18439107" @default.
• W2010639763 hasPublicationYear "2008" @default.
• W2010639763 type Work @default.
• W2010639763 sameAs 2010639763 @default.
• W2010639763 citedByCount "23" @default.
• W2010639763 countsByYear W20106397632012 @default.
• W2010639763 countsByYear W20106397632013 @default.
• W2010639763 countsByYear W20106397632015 @default.
• W2010639763 countsByYear W20106397632017 @default.
• W2010639763 countsByYear W20106397632018 @default.
• W2010639763 countsByYear W20106397632019 @default.
• W2010639763 countsByYear W20106397632022 @default.
• W2010639763 crossrefType "journal-article" @default.
• W2010639763 hasAuthorship W2010639763A5029748749 @default.
• W2010639763 hasAuthorship W2010639763A5031511098 @default.
• W2010639763 hasAuthorship W2010639763A5048901221 @default.
• W2010639763 hasAuthorship W2010639763A5079161216 @default.
• W2010639763 hasConcept C104317684 @default.
• W2010639763 hasConcept C180754005 @default.
• W2010639763 hasConcept C195054827 @default.
• W2010639763 hasConcept C197754878 @default.
• W2010639763 hasConcept C2778415529 @default.
• W2010639763 hasConcept C2780091579 @default.
• W2010639763 hasConcept C2780368995 @default.
• W2010639763 hasConcept C2908647359 @default.
• W2010639763 hasConcept C35605836 @default.
• W2010639763 hasConcept C501734568 @default.
• W2010639763 hasConcept C54355233 @default.
• W2010639763 hasConcept C71924100 @default.
• W2010639763 hasConcept C86803240 @default.
• W2010639763 hasConcept C99454951 @default.
• W2010639763 hasConceptScore W2010639763C104317684 @default.
• W2010639763 hasConceptScore W2010639763C180754005 @default.
• W2010639763 hasConceptScore W2010639763C195054827 @default.
• W2010639763 hasConceptScore W2010639763C197754878 @default.
• W2010639763 hasConceptScore W2010639763C2778415529 @default.
• W2010639763 hasConceptScore W2010639763C2780091579 @default.
• W2010639763 hasConceptScore W2010639763C2780368995 @default.
• W2010639763 hasConceptScore W2010639763C2908647359 @default.
• W2010639763 hasConceptScore W2010639763C35605836 @default.
• W2010639763 hasConceptScore W2010639763C501734568 @default.
• W2010639763 hasConceptScore W2010639763C54355233 @default.
• W2010639763 hasConceptScore W2010639763C71924100 @default.
• W2010639763 hasConceptScore W2010639763C86803240 @default.
• W2010639763 hasConceptScore W2010639763C99454951 @default.
• W2010639763 hasIssue "2" @default.
• W2010639763 hasLocation W20106397631 @default.
• W2010639763 hasLocation W20106397632 @default.
• W2010639763 hasOpenAccess W2010639763 @default.
• W2010639763 hasPrimaryLocation W20106397631 @default.
• W2010639763 hasRelatedWork W1594373972 @default.
• W2010639763 hasRelatedWork W1691709891 @default.
• W2010639763 hasRelatedWork W1968394720 @default.
• W2010639763 hasRelatedWork W1969124489 @default.
• W2010639763 hasRelatedWork W1981811801 @default.
• W2010639763 hasRelatedWork W2025261418 @default.
• W2010639763 hasRelatedWork W2126414919 @default.
• W2010639763 hasRelatedWork W2413376040 @default.
• W2010639763 hasRelatedWork W4248963651 @default.
• W2010639763 hasRelatedWork W4300774784 @default.
• W2010639763 hasVolume "12" @default.

• next