Matches in SemOpenAlex for { <https://semopenalex.org/work/W2081041> ?p ?o ?g. }
Showing items 1 to 80 of
80
with 100 items per page.
- W2081041 abstract "Friedreich`s ataxia (FRDA) is an autosomal recessive degenerative disease involving the central and peripheral nervous system and the heart. The mutated gene in FRDA has recently been localized within a 450 Kb interval on chromosome 9q13 between the markers D9S202/FR1/FR8. We have been able to confirm such localization for the disease gene by analysis of extended haplotype in consanguineous families. Cases of loss of marker homozygosity, which are likely to be due to ancient recombinations, have been found to involve D9S110, D9S15, and D9S111 on the telomeric side, and FR5 on the centromeric side, while homozygosity was always found for a core haplotype including D9S5, FD1, and D9S202. We constructed a YAC contig spanning the region between the telomeric markers and FR5, and cosmids have been obtained from the YACs. In order to isolate transcribed sequences from the FRDA candidate region we are utilizing a combination of approaches, including hybridization of YACs and cosmids to an arrayed human heart cDNA library, cDNA direct selection, and exon amplification. A transcribed sequence near the telomeric end of the region has been isolated by cDNA direct selection using pooled cosmids as genomic template and primary human heart, muscle, brain, liver and placenta cDNAsmore » as cDNA source. We have shown this sequence to be the human equivalent of ZO-2, a tight junction protein previously described in the dog. No mutations of this gene have been found in FRDA subjects. Additional cDNA have recently been isolated and they are currently being evaluated.« less" @default.
- W2081041 created "2016-06-24" @default.
- W2081041 creator A5011460508 @default.
- W2081041 creator A5055311132 @default.
- W2081041 creator A5080418392 @default.
- W2081041 date "1994-09-01" @default.
- W2081041 modified "2023-09-25" @default.
- W2081041 title "Isolation of candidate genes of Friedreich`s ataxia on chromosome 9q13" @default.
- W2081041 hasPublicationYear "1994" @default.
- W2081041 type Work @default.
- W2081041 sameAs 2081041 @default.
- W2081041 citedByCount "0" @default.
- W2081041 crossrefType "journal-article" @default.
- W2081041 hasAuthorship W2081041A5011460508 @default.
- W2081041 hasAuthorship W2081041A5055311132 @default.
- W2081041 hasAuthorship W2081041A5080418392 @default.
- W2081041 hasConcept C104317684 @default.
- W2081041 hasConcept C122735190 @default.
- W2081041 hasConcept C141231307 @default.
- W2081041 hasConcept C180754005 @default.
- W2081041 hasConcept C187882448 @default.
- W2081041 hasConcept C189482833 @default.
- W2081041 hasConcept C194583182 @default.
- W2081041 hasConcept C197754878 @default.
- W2081041 hasConcept C2910535243 @default.
- W2081041 hasConcept C30481170 @default.
- W2081041 hasConcept C35101798 @default.
- W2081041 hasConcept C36823959 @default.
- W2081041 hasConcept C39917842 @default.
- W2081041 hasConcept C54355233 @default.
- W2081041 hasConcept C59582021 @default.
- W2081041 hasConcept C69991583 @default.
- W2081041 hasConcept C84597430 @default.
- W2081041 hasConcept C86803240 @default.
- W2081041 hasConceptScore W2081041C104317684 @default.
- W2081041 hasConceptScore W2081041C122735190 @default.
- W2081041 hasConceptScore W2081041C141231307 @default.
- W2081041 hasConceptScore W2081041C180754005 @default.
- W2081041 hasConceptScore W2081041C187882448 @default.
- W2081041 hasConceptScore W2081041C189482833 @default.
- W2081041 hasConceptScore W2081041C194583182 @default.
- W2081041 hasConceptScore W2081041C197754878 @default.
- W2081041 hasConceptScore W2081041C2910535243 @default.
- W2081041 hasConceptScore W2081041C30481170 @default.
- W2081041 hasConceptScore W2081041C35101798 @default.
- W2081041 hasConceptScore W2081041C36823959 @default.
- W2081041 hasConceptScore W2081041C39917842 @default.
- W2081041 hasConceptScore W2081041C54355233 @default.
- W2081041 hasConceptScore W2081041C59582021 @default.
- W2081041 hasConceptScore W2081041C69991583 @default.
- W2081041 hasConceptScore W2081041C84597430 @default.
- W2081041 hasConceptScore W2081041C86803240 @default.
- W2081041 hasLocation W20810411 @default.
- W2081041 hasOpenAccess W2081041 @default.
- W2081041 hasPrimaryLocation W20810411 @default.
- W2081041 hasRelatedWork W127289228 @default.
- W2081041 hasRelatedWork W1563673113 @default.
- W2081041 hasRelatedWork W193770903 @default.
- W2081041 hasRelatedWork W2024123753 @default.
- W2081041 hasRelatedWork W2028554823 @default.
- W2081041 hasRelatedWork W2037732239 @default.
- W2081041 hasRelatedWork W2065969092 @default.
- W2081041 hasRelatedWork W2069896544 @default.
- W2081041 hasRelatedWork W2072118302 @default.
- W2081041 hasRelatedWork W2085383293 @default.
- W2081041 hasRelatedWork W2110759460 @default.
- W2081041 hasRelatedWork W2297204152 @default.
- W2081041 hasRelatedWork W243017329 @default.
- W2081041 hasRelatedWork W2481822264 @default.
- W2081041 hasRelatedWork W2801784251 @default.
- W2081041 hasRelatedWork W3126175520 @default.
- W2081041 hasRelatedWork W326435600 @default.
- W2081041 hasRelatedWork W51568895 @default.
- W2081041 hasRelatedWork W51881372 @default.
- W2081041 hasRelatedWork W216974076 @default.
- W2081041 hasVolume "55" @default.
- W2081041 isParatext "false" @default.
- W2081041 isRetracted "false" @default.
- W2081041 magId "2081041" @default.
- W2081041 workType "article" @default.