Matches in SemOpenAlex for { <https://semopenalex.org/work/W2168809712> ?p ?o ?g. }
Showing items 1 to 89 of
89
with 100 items per page.
- W2168809712 abstract "Cystinuria represents 3% of nephrolithiasis in humans. Two genes have been identified as the main genetic causes of cystinuria, SLC3A1 and SLC7A9, with an autosomal recessive mode of inheritance. In the present study, we studied for the first time, genetically and clinically, all the cystinuric families identified so far in the Greek-Cypriot population.Discovery of mutations was performed through polymerase chain reaction (PCR)-single analysis and DNA resequencing. New families were investigated through PCR-RFLPs. Clinical data were collected through the hospital patients' records and analytical follow-up of the families.We found a total of five mutations in 28 Greek-Cypriot cystinuric patients belonging in 12 families. The most frequent mutation among the 28 Greek-Cypriot patients is the SLC3A1-p.T216M, which is also the second most frequent mutation in Europe, representing a genetic founder effect. Sixteen of the 28 patients are homozygous for this mutation. Even though a consanguinity loop was obvious in only one family, other patients were from families in small villages where endogamy was practiced for many centuries. Timely clinical and genetic diagnosis, accompanied by early treatment, is significant for the good health of most of our patients. Only ∼14% of them developed chronic renal failure, and only one reached end-stage renal disease (ESRD).Five SLC3A1 and SLC7A9 mutations appear to be responsible for the genetic basis of cystinuria in the Greek-Cypriot patients; having such a limited number of causative mutations will simplify diagnostics for this population." @default.
- W2168809712 created "2016-06-24" @default.
- W2168809712 creator A5005748503 @default.
- W2168809712 creator A5009394426 @default.
- W2168809712 creator A5015228866 @default.
- W2168809712 creator A5027333002 @default.
- W2168809712 creator A5029748749 @default.
- W2168809712 creator A5048901221 @default.
- W2168809712 creator A5060840062 @default.
- W2168809712 creator A5070041983 @default.
- W2168809712 creator A5074710667 @default.
- W2168809712 creator A5079161216 @default.
- W2168809712 date "2015-11-01" @default.
- W2168809712 modified "2023-09-26" @default.
- W2168809712 title "Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population" @default.
- W2168809712 doi "https://doi.org/10.1089/gtmb.2015.0144" @default.
- W2168809712 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26540609" @default.
- W2168809712 hasPublicationYear "2015" @default.
- W2168809712 type Work @default.
- W2168809712 sameAs 2168809712 @default.
- W2168809712 citedByCount "1" @default.
- W2168809712 countsByYear W21688097122020 @default.
- W2168809712 crossrefType "journal-article" @default.
- W2168809712 hasAuthorship W2168809712A5005748503 @default.
- W2168809712 hasAuthorship W2168809712A5009394426 @default.
- W2168809712 hasAuthorship W2168809712A5015228866 @default.
- W2168809712 hasAuthorship W2168809712A5027333002 @default.
- W2168809712 hasAuthorship W2168809712A5029748749 @default.
- W2168809712 hasAuthorship W2168809712A5048901221 @default.
- W2168809712 hasAuthorship W2168809712A5060840062 @default.
- W2168809712 hasAuthorship W2168809712A5070041983 @default.
- W2168809712 hasAuthorship W2168809712A5074710667 @default.
- W2168809712 hasAuthorship W2168809712A5079161216 @default.
- W2168809712 hasConcept C104317684 @default.
- W2168809712 hasConcept C168007829 @default.
- W2168809712 hasConcept C181199279 @default.
- W2168809712 hasConcept C2776608514 @default.
- W2168809712 hasConcept C2777608289 @default.
- W2168809712 hasConcept C2779201268 @default.
- W2168809712 hasConcept C2908647359 @default.
- W2168809712 hasConcept C49105822 @default.
- W2168809712 hasConcept C501734568 @default.
- W2168809712 hasConcept C54355233 @default.
- W2168809712 hasConcept C55493867 @default.
- W2168809712 hasConcept C71924100 @default.
- W2168809712 hasConcept C86803240 @default.
- W2168809712 hasConcept C99454951 @default.
- W2168809712 hasConceptScore W2168809712C104317684 @default.
- W2168809712 hasConceptScore W2168809712C168007829 @default.
- W2168809712 hasConceptScore W2168809712C181199279 @default.
- W2168809712 hasConceptScore W2168809712C2776608514 @default.
- W2168809712 hasConceptScore W2168809712C2777608289 @default.
- W2168809712 hasConceptScore W2168809712C2779201268 @default.
- W2168809712 hasConceptScore W2168809712C2908647359 @default.
- W2168809712 hasConceptScore W2168809712C49105822 @default.
- W2168809712 hasConceptScore W2168809712C501734568 @default.
- W2168809712 hasConceptScore W2168809712C54355233 @default.
- W2168809712 hasConceptScore W2168809712C55493867 @default.
- W2168809712 hasConceptScore W2168809712C71924100 @default.
- W2168809712 hasConceptScore W2168809712C86803240 @default.
- W2168809712 hasConceptScore W2168809712C99454951 @default.
- W2168809712 hasLocation W21688097121 @default.
- W2168809712 hasLocation W21688097122 @default.
- W2168809712 hasOpenAccess W2168809712 @default.
- W2168809712 hasPrimaryLocation W21688097121 @default.
- W2168809712 hasRelatedWork W138046765 @default.
- W2168809712 hasRelatedWork W1678277638 @default.
- W2168809712 hasRelatedWork W1927607505 @default.
- W2168809712 hasRelatedWork W1935705465 @default.
- W2168809712 hasRelatedWork W1973147772 @default.
- W2168809712 hasRelatedWork W1976330137 @default.
- W2168809712 hasRelatedWork W2009892323 @default.
- W2168809712 hasRelatedWork W2012470377 @default.
- W2168809712 hasRelatedWork W2032122670 @default.
- W2168809712 hasRelatedWork W2036238095 @default.
- W2168809712 hasRelatedWork W2055166427 @default.
- W2168809712 hasRelatedWork W2109771633 @default.
- W2168809712 hasRelatedWork W2133153603 @default.
- W2168809712 hasRelatedWork W2146673223 @default.
- W2168809712 hasRelatedWork W2269520141 @default.
- W2168809712 hasRelatedWork W2310408308 @default.
- W2168809712 hasRelatedWork W2400562669 @default.
- W2168809712 hasRelatedWork W2413104682 @default.
- W2168809712 hasRelatedWork W2914195783 @default.
- W2168809712 hasRelatedWork W58955765 @default.
- W2168809712 isParatext "false" @default.
- W2168809712 isRetracted "false" @default.
- W2168809712 magId "2168809712" @default.
- W2168809712 workType "article" @default.