Matches in SemOpenAlex for { <https://semopenalex.org/work/W2258244211> ?p ?o ?g. }
Showing items 1 to 95 of
95
with 100 items per page.
- W2258244211 endingPage "7" @default.
- W2258244211 startingPage "611" @default.
- W2258244211 abstract "X-linked juvenile retinoschisis (XLRS) is the leading cause of macular degeneration in males. This condition is caused by mutations in the RS1 gene and is, characterized by schisis within the retina. The purpose of this study was to identify the mutations in the RS1 gene associated with XLRS in an Indian cohort.The coding region of RS1 was analyzed for mutations by polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) and restriction fragment length polymorphism (RFLP) analysis in six unrelated subjects clinically diagnosed as having XLRS and in their available family members. Direct sequencing was performed for all samples that displayed an electrophoretic mobility shift in SSCP gel.Mutation analysis of RS1 gene revealed five mutations in exon 6 like c.574C>T, c.583A>G, c.608C>T, c.617G>A, and c.637C>T, respectively, among them four missense mutations, one nonsense mutation, and two novel sequence variations. These mutations were found in individuals who exhibited clinical features of bilateral foveal and peripheral retinoschisis consistent with XLRS. The mutations were absent in the 100 age matched control samples analyzed.This is the first report of mutations in RS1 to be associated with XLRS in the Indian population. The identified genetic variations, phenotype and genotype correlations were consistent with other studies. Identification of the causative mutation in patients with XLRS is helpful in confirming the diagnosis and in counseling of family members." @default.
- W2258244211 created "2016-06-24" @default.
- W2258244211 creator A5015061500 @default.
- W2258244211 creator A5018200190 @default.
- W2258244211 creator A5027270670 @default.
- W2258244211 creator A5039601129 @default.
- W2258244211 creator A5042350104 @default.
- W2258244211 creator A5067481441 @default.
- W2258244211 date "2007-04-19" @default.
- W2258244211 modified "2023-09-23" @default.
- W2258244211 title "Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis." @default.
- W2258244211 cites W1532955344 @default.
- W2258244211 cites W1974019768 @default.
- W2258244211 cites W1974670959 @default.
- W2258244211 cites W2027809481 @default.
- W2258244211 cites W2042534215 @default.
- W2258244211 cites W2044034296 @default.
- W2258244211 cites W2070849279 @default.
- W2258244211 cites W2080270797 @default.
- W2258244211 cites W2092214111 @default.
- W2258244211 cites W2092724715 @default.
- W2258244211 cites W2096257125 @default.
- W2258244211 cites W2118094114 @default.
- W2258244211 cites W2141656520 @default.
- W2258244211 cites W2143691781 @default.
- W2258244211 cites W2153379835 @default.
- W2258244211 cites W2160755534 @default.
- W2258244211 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2669507" @default.
- W2258244211 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17515881" @default.
- W2258244211 hasPublicationYear "2007" @default.
- W2258244211 type Work @default.
- W2258244211 sameAs 2258244211 @default.
- W2258244211 citedByCount "6" @default.
- W2258244211 countsByYear W22582442112012 @default.
- W2258244211 countsByYear W22582442112016 @default.
- W2258244211 countsByYear W22582442112022 @default.
- W2258244211 crossrefType "journal-article" @default.
- W2258244211 hasAuthorship W2258244211A5015061500 @default.
- W2258244211 hasAuthorship W2258244211A5018200190 @default.
- W2258244211 hasAuthorship W2258244211A5027270670 @default.
- W2258244211 hasAuthorship W2258244211A5039601129 @default.
- W2258244211 hasAuthorship W2258244211A5042350104 @default.
- W2258244211 hasAuthorship W2258244211A5067481441 @default.
- W2258244211 hasConcept C104317684 @default.
- W2258244211 hasConcept C129219603 @default.
- W2258244211 hasConcept C135763542 @default.
- W2258244211 hasConcept C153911025 @default.
- W2258244211 hasConcept C168007829 @default.
- W2258244211 hasConcept C2779594218 @default.
- W2258244211 hasConcept C2780428090 @default.
- W2258244211 hasConcept C2780827179 @default.
- W2258244211 hasConcept C36823959 @default.
- W2258244211 hasConcept C501734568 @default.
- W2258244211 hasConcept C54355233 @default.
- W2258244211 hasConcept C55493867 @default.
- W2258244211 hasConcept C75563809 @default.
- W2258244211 hasConcept C86803240 @default.
- W2258244211 hasConcept C91779695 @default.
- W2258244211 hasConcept C96777560 @default.
- W2258244211 hasConceptScore W2258244211C104317684 @default.
- W2258244211 hasConceptScore W2258244211C129219603 @default.
- W2258244211 hasConceptScore W2258244211C135763542 @default.
- W2258244211 hasConceptScore W2258244211C153911025 @default.
- W2258244211 hasConceptScore W2258244211C168007829 @default.
- W2258244211 hasConceptScore W2258244211C2779594218 @default.
- W2258244211 hasConceptScore W2258244211C2780428090 @default.
- W2258244211 hasConceptScore W2258244211C2780827179 @default.
- W2258244211 hasConceptScore W2258244211C36823959 @default.
- W2258244211 hasConceptScore W2258244211C501734568 @default.
- W2258244211 hasConceptScore W2258244211C54355233 @default.
- W2258244211 hasConceptScore W2258244211C55493867 @default.
- W2258244211 hasConceptScore W2258244211C75563809 @default.
- W2258244211 hasConceptScore W2258244211C86803240 @default.
- W2258244211 hasConceptScore W2258244211C91779695 @default.
- W2258244211 hasConceptScore W2258244211C96777560 @default.
- W2258244211 hasLocation W22582442111 @default.
- W2258244211 hasOpenAccess W2258244211 @default.
- W2258244211 hasPrimaryLocation W22582442111 @default.
- W2258244211 hasRelatedWork W1512026426 @default.
- W2258244211 hasRelatedWork W1592589683 @default.
- W2258244211 hasRelatedWork W1760617822 @default.
- W2258244211 hasRelatedWork W1967434184 @default.
- W2258244211 hasRelatedWork W1975835008 @default.
- W2258244211 hasRelatedWork W1994235408 @default.
- W2258244211 hasRelatedWork W2005813093 @default.
- W2258244211 hasRelatedWork W2052226205 @default.
- W2258244211 hasRelatedWork W2125441756 @default.
- W2258244211 hasRelatedWork W2416185361 @default.
- W2258244211 hasVolume "13" @default.
- W2258244211 isParatext "false" @default.
- W2258244211 isRetracted "false" @default.
- W2258244211 magId "2258244211" @default.
- W2258244211 workType "article" @default.