Matches in SemOpenAlex for { <https://semopenalex.org/work/W2920511853> ?p ?o ?g. }
Showing items 1 to 96 of
96
with 100 items per page.
- W2920511853 endingPage "280" @default.
- W2920511853 startingPage "275" @default.
- W2920511853 abstract "Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder characterized by dystonia, parkinsonism, cognitive and visual impairment, and iron accumulation in the brain. Many cases of PKAN result from mutations in the PANK2 gene that encodes pantothenate kinase 2, a key regulatory enzyme in the biosynthesis of coenzyme A. We previously detected six Serbian patients with clinically suggestive PKAN, all of whom had PANK2 c.1583C>T (p.T528M) mutation either in the homozygous or in the heterozygous state. In this study we explored the phenotypic expression and a possible founder effect of this substitution. We performed the analysis of linkage disequilibrium (LD) and organization in haplotypes of 23 single nucleotide polymorphisms (SNPs) adjacent to the PANK2 gene in all of the six patients and their parents, as well as in control healthy child-parents trios. The age of PANK2 c.1583C>T mutation was determined using the r2 degeneration method. Clinical findings in our patients were markedly similar. Different LD structures between patients and controls is revealed, and PANK2 c.1583T allele was significantly associated with a particular haplotype. The age of PANK2 c.1583C>T mutation was estimated to be about 15 generations. Our results suggest that PANK2 c.1583C>T in Serbian PKAN patients represents a founder mutation descended from one common ancestor." @default.
- W2920511853 created "2019-03-11" @default.
- W2920511853 creator A5023840598 @default.
- W2920511853 creator A5026312694 @default.
- W2920511853 creator A5035181000 @default.
- W2920511853 creator A5035824049 @default.
- W2920511853 creator A5037314238 @default.
- W2920511853 creator A5066530719 @default.
- W2920511853 creator A5068986068 @default.
- W2920511853 creator A5073676802 @default.
- W2920511853 date "2019-01-01" @default.
- W2920511853 modified "2023-09-30" @default.
- W2920511853 title "Phenotypic expression and founder effect of PANK2 c.1583C>T (p.T528M) mutation in Serbian pantothenate kinase-associated neurodegeneration patients" @default.
- W2920511853 cites W1518778430 @default.
- W2920511853 cites W1535845024 @default.
- W2920511853 cites W1974804543 @default.
- W2920511853 cites W2009610061 @default.
- W2920511853 cites W2028834929 @default.
- W2920511853 cites W2045251590 @default.
- W2920511853 cites W2052020421 @default.
- W2920511853 cites W2115972690 @default.
- W2920511853 cites W2162530578 @default.
- W2920511853 cites W2171453754 @default.
- W2920511853 cites W2576269816 @default.
- W2920511853 cites W2606659059 @default.
- W2920511853 doi "https://doi.org/10.2298/abs181227009s" @default.
- W2920511853 hasPublicationYear "2019" @default.
- W2920511853 type Work @default.
- W2920511853 sameAs 2920511853 @default.
- W2920511853 citedByCount "0" @default.
- W2920511853 crossrefType "journal-article" @default.
- W2920511853 hasAuthorship W2920511853A5023840598 @default.
- W2920511853 hasAuthorship W2920511853A5026312694 @default.
- W2920511853 hasAuthorship W2920511853A5035181000 @default.
- W2920511853 hasAuthorship W2920511853A5035824049 @default.
- W2920511853 hasAuthorship W2920511853A5037314238 @default.
- W2920511853 hasAuthorship W2920511853A5066530719 @default.
- W2920511853 hasAuthorship W2920511853A5068986068 @default.
- W2920511853 hasAuthorship W2920511853A5073676802 @default.
- W2920511853 hasBestOaLocation W29205118531 @default.
- W2920511853 hasConcept C104317684 @default.
- W2920511853 hasConcept C12125453 @default.
- W2920511853 hasConcept C127716648 @default.
- W2920511853 hasConcept C135763542 @default.
- W2920511853 hasConcept C142724271 @default.
- W2920511853 hasConcept C153209595 @default.
- W2920511853 hasConcept C180754005 @default.
- W2920511853 hasConcept C195054827 @default.
- W2920511853 hasConcept C197754878 @default.
- W2920511853 hasConcept C2776525014 @default.
- W2920511853 hasConcept C2776925932 @default.
- W2920511853 hasConcept C2779134260 @default.
- W2920511853 hasConcept C501734568 @default.
- W2920511853 hasConcept C54355233 @default.
- W2920511853 hasConcept C71924100 @default.
- W2920511853 hasConcept C86803240 @default.
- W2920511853 hasConceptScore W2920511853C104317684 @default.
- W2920511853 hasConceptScore W2920511853C12125453 @default.
- W2920511853 hasConceptScore W2920511853C127716648 @default.
- W2920511853 hasConceptScore W2920511853C135763542 @default.
- W2920511853 hasConceptScore W2920511853C142724271 @default.
- W2920511853 hasConceptScore W2920511853C153209595 @default.
- W2920511853 hasConceptScore W2920511853C180754005 @default.
- W2920511853 hasConceptScore W2920511853C195054827 @default.
- W2920511853 hasConceptScore W2920511853C197754878 @default.
- W2920511853 hasConceptScore W2920511853C2776525014 @default.
- W2920511853 hasConceptScore W2920511853C2776925932 @default.
- W2920511853 hasConceptScore W2920511853C2779134260 @default.
- W2920511853 hasConceptScore W2920511853C501734568 @default.
- W2920511853 hasConceptScore W2920511853C54355233 @default.
- W2920511853 hasConceptScore W2920511853C71924100 @default.
- W2920511853 hasConceptScore W2920511853C86803240 @default.
- W2920511853 hasFunder F4320322729 @default.
- W2920511853 hasIssue "2" @default.
- W2920511853 hasLocation W29205118531 @default.
- W2920511853 hasLocation W29205118532 @default.
- W2920511853 hasLocation W29205118533 @default.
- W2920511853 hasOpenAccess W2920511853 @default.
- W2920511853 hasPrimaryLocation W29205118531 @default.
- W2920511853 hasRelatedWork W1935916792 @default.
- W2920511853 hasRelatedWork W1975253683 @default.
- W2920511853 hasRelatedWork W2013166796 @default.
- W2920511853 hasRelatedWork W2016098606 @default.
- W2920511853 hasRelatedWork W2056572494 @default.
- W2920511853 hasRelatedWork W2061172733 @default.
- W2920511853 hasRelatedWork W2073069259 @default.
- W2920511853 hasRelatedWork W2088561444 @default.
- W2920511853 hasRelatedWork W2153992750 @default.
- W2920511853 hasRelatedWork W56090422 @default.
- W2920511853 hasVolume "71" @default.
- W2920511853 isParatext "false" @default.
- W2920511853 isRetracted "false" @default.
- W2920511853 magId "2920511853" @default.
- W2920511853 workType "article" @default.