FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3105072830> ?p ?o ?g. }

• W3105072830 endingPage "1377" @default.
• W3105072830 startingPage "1377" @default.
• W3105072830 abstract "Genetic studies of population isolates have great potential to provide a unique insight into genetic differentiation and phenotypic expressions. Galičnik village is a population isolate located in the northwest region of the Republic of North Macedonia, established around the 10th century. Alport syndrome-linked nephropathy with a complex inheritance pattern has been described historically among individuals in the village. In order to determine the genetic basis of the nephropathies and to characterize the genetic structure of the population, 23 samples were genotyped using a custom-made next generation sequencing panel and 111 samples using population genetic markers. We compared the newly obtained population data with fifteen European population data sets. NGS analysis revealed four different mutations in three different collagen genes in twelve individuals within the Galičnik population. The genetic isolation and small effective population size of Galičnik village have resulted in a high level of genomic homogeneity, with domination of R1a-M458 and R1b-U106* haplogroups. The study explains complex autosomal in cis digenic and X-linked inheritance patterns of nephropathy in the isolated population of Galičnik and describes the first case of Alport syndrome family with three different collagen gene mutations." @default.
• W3105072830 created "2020-11-23" @default.
• W3105072830 creator A5001424900 @default.
• W3105072830 creator A5029292121 @default.
• W3105072830 creator A5056940160 @default.
• W3105072830 creator A5074011343 @default.
• W3105072830 creator A5080890031 @default.
• W3105072830 date "2020-11-20" @default.
• W3105072830 modified "2023-09-26" @default.
• W3105072830 title "Mutations in Collagen Genes in the Context of an Isolated Population" @default.
• W3105072830 cites W1967249608 @default.
• W3105072830 cites W1971671939 @default.
• W3105072830 cites W1976654761 @default.
• W3105072830 cites W1981482427 @default.
• W3105072830 cites W1990074132 @default.
• W3105072830 cites W1991897687 @default.
• W3105072830 cites W1997237173 @default.
• W3105072830 cites W2005430922 @default.
• W3105072830 cites W2013051893 @default.
• W3105072830 cites W2016132517 @default.
• W3105072830 cites W2021341670 @default.
• W3105072830 cites W2030956978 @default.
• W3105072830 cites W2032104101 @default.
• W3105072830 cites W2037458235 @default.
• W3105072830 cites W2050876420 @default.
• W3105072830 cites W2052332733 @default.
• W3105072830 cites W2065408585 @default.
• W3105072830 cites W2078123453 @default.
• W3105072830 cites W2079806617 @default.
• W3105072830 cites W2083418268 @default.
• W3105072830 cites W2084341903 @default.
• W3105072830 cites W2084610830 @default.
• W3105072830 cites W2104775192 @default.
• W3105072830 cites W2106157205 @default.
• W3105072830 cites W2108949523 @default.
• W3105072830 cites W2113104073 @default.
• W3105072830 cites W2117131162 @default.
• W3105072830 cites W2117195225 @default.
• W3105072830 cites W2125903388 @default.
• W3105072830 cites W2128796050 @default.
• W3105072830 cites W2129992006 @default.
• W3105072830 cites W2132903150 @default.
• W3105072830 cites W2141042406 @default.
• W3105072830 cites W2145033464 @default.
• W3105072830 cites W2155644439 @default.
• W3105072830 cites W2164864327 @default.
• W3105072830 cites W2291059308 @default.
• W3105072830 cites W2602871570 @default.
• W3105072830 cites W2736066470 @default.
• W3105072830 cites W2792733174 @default.
• W3105072830 cites W2803799714 @default.
• W3105072830 cites W2888605992 @default.
• W3105072830 cites W3156314705 @default.
• W3105072830 cites W3156651668 @default.
• W3105072830 doi "https://doi.org/10.3390/genes11111377" @default.
• W3105072830 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7699876" @default.
• W3105072830 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33233744" @default.
• W3105072830 hasPublicationYear "2020" @default.
• W3105072830 type Work @default.
• W3105072830 sameAs 3105072830 @default.
• W3105072830 citedByCount "3" @default.
• W3105072830 countsByYear W31050728302022 @default.
• W3105072830 crossrefType "journal-article" @default.
• W3105072830 hasAuthorship W3105072830A5001424900 @default.
• W3105072830 hasAuthorship W3105072830A5029292121 @default.
• W3105072830 hasAuthorship W3105072830A5056940160 @default.
• W3105072830 hasAuthorship W3105072830A5074011343 @default.
• W3105072830 hasAuthorship W3105072830A5080890031 @default.
• W3105072830 hasBestOaLocation W31050728301 @default.
• W3105072830 hasConcept C104317684 @default.
• W3105072830 hasConcept C135763542 @default.
• W3105072830 hasConcept C151730666 @default.
• W3105072830 hasConcept C197754878 @default.
• W3105072830 hasConcept C201526758 @default.
• W3105072830 hasConcept C2776908417 @default.
• W3105072830 hasConcept C2779343474 @default.
• W3105072830 hasConcept C2780091579 @default.
• W3105072830 hasConcept C2780368995 @default.
• W3105072830 hasConcept C2908647359 @default.
• W3105072830 hasConcept C54355233 @default.
• W3105072830 hasConcept C71924100 @default.
• W3105072830 hasConcept C78458016 @default.
• W3105072830 hasConcept C86803240 @default.
• W3105072830 hasConcept C99454951 @default.
• W3105072830 hasConceptScore W3105072830C104317684 @default.
• W3105072830 hasConceptScore W3105072830C135763542 @default.
• W3105072830 hasConceptScore W3105072830C151730666 @default.
• W3105072830 hasConceptScore W3105072830C197754878 @default.
• W3105072830 hasConceptScore W3105072830C201526758 @default.
• W3105072830 hasConceptScore W3105072830C2776908417 @default.
• W3105072830 hasConceptScore W3105072830C2779343474 @default.
• W3105072830 hasConceptScore W3105072830C2780091579 @default.
• W3105072830 hasConceptScore W3105072830C2780368995 @default.
• W3105072830 hasConceptScore W3105072830C2908647359 @default.
• W3105072830 hasConceptScore W3105072830C54355233 @default.
• W3105072830 hasConceptScore W3105072830C71924100 @default.
• W3105072830 hasConceptScore W3105072830C78458016 @default.
• W3105072830 hasConceptScore W3105072830C86803240 @default.

• next