FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2068707788> ?p ?o ?g. }

• W2068707788 endingPage "55" @default.
• W2068707788 startingPage "47" @default.
• W2068707788 abstract "Barbosa M, Lopes A, Mota C, Martins E, Oliveira J, Alves S, De Bonis P, do Céu Mota M, Dias C, Rodrigues-Santos P, Fortuna AM, Quelhas D, Lacerda L, Bisceglia L, Cardoso ML. Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients. Cystinuria is a rare autosomal inherited disorder characterized by impaired transport of cystine and dibasic aminoacids in the proximal renal tubule. Classically, Cystinuria is classified as type I (silent heterozygotes) and non-type I (heterozygotes with urinary hyperexcretion of cystine). Molecularly, Cystinuria is classified as type A (mutations on SLC3A1 gene) and type B (mutations on SLC7A9 gene). The goal of this study is to provide a comprehensive clinical, biochemical and molecular characterization of a cohort of 12 Portuguese patients affected with Cystinuria in order to provide insight into genotype–phenotype correlations. We describe seven type I and five non-type I patients. Regarding the molecular classification, seven patients were type A and five were type B. In SLC3A1 gene, two large genomic rearrangements and 13 sequence variants, including four new variants c.611-2A>C; c.1136+44G>A; c.1597T (p.Y533N); c.*70A>G, were found. One large genomic rearrangement was found in SLC7A9 gene as well as 24 sequence variants including 3 novel variants: c.216C>T (p.C72C), c.1119G>A (p.S373S) and c.*82C>T. In our cohort the most frequent pathogenic mutations were: large rearrangements (33.3% of mutant alleles) and a missense mutation c.1400T>C ( p.M467T) (11.1%). This report expands the spectrum of SLC3A1 and SLC7A9 mutations and provides guidance in the clinical implementation of molecular assays in routine genetic counseling of Portuguese patients affected with Cystinuria." @default.
• W2068707788 created "2016-06-24" @default.
• W2068707788 creator A5000640068 @default.
• W2068707788 creator A5002873547 @default.
• W2068707788 creator A5013994823 @default.
• W2068707788 creator A5016561355 @default.
• W2068707788 creator A5028602064 @default.
• W2068707788 creator A5036899240 @default.
• W2068707788 creator A5038979632 @default.
• W2068707788 creator A5054745549 @default.
• W2068707788 creator A5059639452 @default.
• W2068707788 creator A5061337372 @default.
• W2068707788 creator A5064231735 @default.
• W2068707788 creator A5066534332 @default.
• W2068707788 creator A5068297246 @default.
• W2068707788 creator A5074350381 @default.
• W2068707788 creator A5077996019 @default.
• W2068707788 date "2011-02-14" @default.
• W2068707788 modified "2023-10-17" @default.
• W2068707788 title "Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients" @default.
• W2068707788 cites W1561921956 @default.
• W2068707788 cites W1987378945 @default.
• W2068707788 cites W2000364429 @default.
• W2068707788 cites W2005179679 @default.
• W2068707788 cites W2010289574 @default.
• W2068707788 cites W2025784337 @default.
• W2068707788 cites W2035435977 @default.
• W2068707788 cites W2044759346 @default.
• W2068707788 cites W2057643403 @default.
• W2068707788 cites W2067546908 @default.
• W2068707788 cites W2072620493 @default.
• W2068707788 cites W2077228926 @default.
• W2068707788 cites W2097970756 @default.
• W2068707788 cites W2105917933 @default.
• W2068707788 cites W2110410721 @default.
• W2068707788 cites W2123262074 @default.
• W2068707788 cites W2143198315 @default.
• W2068707788 cites W2146807421 @default.
• W2068707788 cites W2163499953 @default.
• W2068707788 cites W2164621133 @default.
• W2068707788 cites W2170630666 @default.
• W2068707788 doi "https://doi.org/10.1111/j.1399-0004.2011.01638.x" @default.
• W2068707788 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21255007" @default.
• W2068707788 hasPublicationYear "2011" @default.
• W2068707788 type Work @default.
• W2068707788 sameAs 2068707788 @default.
• W2068707788 citedByCount "39" @default.
• W2068707788 countsByYear W20687077882012 @default.
• W2068707788 countsByYear W20687077882013 @default.
• W2068707788 countsByYear W20687077882014 @default.
• W2068707788 countsByYear W20687077882015 @default.
• W2068707788 countsByYear W20687077882016 @default.
• W2068707788 countsByYear W20687077882017 @default.
• W2068707788 countsByYear W20687077882018 @default.
• W2068707788 countsByYear W20687077882019 @default.
• W2068707788 countsByYear W20687077882020 @default.
• W2068707788 countsByYear W20687077882022 @default.
• W2068707788 countsByYear W20687077882023 @default.
• W2068707788 crossrefType "journal-article" @default.
• W2068707788 hasAuthorship W2068707788A5000640068 @default.
• W2068707788 hasAuthorship W2068707788A5002873547 @default.
• W2068707788 hasAuthorship W2068707788A5013994823 @default.
• W2068707788 hasAuthorship W2068707788A5016561355 @default.
• W2068707788 hasAuthorship W2068707788A5028602064 @default.
• W2068707788 hasAuthorship W2068707788A5036899240 @default.
• W2068707788 hasAuthorship W2068707788A5038979632 @default.
• W2068707788 hasAuthorship W2068707788A5054745549 @default.
• W2068707788 hasAuthorship W2068707788A5059639452 @default.
• W2068707788 hasAuthorship W2068707788A5061337372 @default.
• W2068707788 hasAuthorship W2068707788A5064231735 @default.
• W2068707788 hasAuthorship W2068707788A5066534332 @default.
• W2068707788 hasAuthorship W2068707788A5068297246 @default.
• W2068707788 hasAuthorship W2068707788A5074350381 @default.
• W2068707788 hasAuthorship W2068707788A5077996019 @default.
• W2068707788 hasConcept C104317684 @default.
• W2068707788 hasConcept C12125453 @default.
• W2068707788 hasConcept C135763542 @default.
• W2068707788 hasConcept C153911025 @default.
• W2068707788 hasConcept C180754005 @default.
• W2068707788 hasConcept C181199279 @default.
• W2068707788 hasConcept C2776608514 @default.
• W2068707788 hasConcept C2777608289 @default.
• W2068707788 hasConcept C2779201268 @default.
• W2068707788 hasConcept C501734568 @default.
• W2068707788 hasConcept C54355233 @default.
• W2068707788 hasConcept C55493867 @default.
• W2068707788 hasConcept C75563809 @default.
• W2068707788 hasConcept C86803240 @default.
• W2068707788 hasConceptScore W2068707788C104317684 @default.
• W2068707788 hasConceptScore W2068707788C12125453 @default.
• W2068707788 hasConceptScore W2068707788C135763542 @default.
• W2068707788 hasConceptScore W2068707788C153911025 @default.
• W2068707788 hasConceptScore W2068707788C180754005 @default.
• W2068707788 hasConceptScore W2068707788C181199279 @default.
• W2068707788 hasConceptScore W2068707788C2776608514 @default.
• W2068707788 hasConceptScore W2068707788C2777608289 @default.
• W2068707788 hasConceptScore W2068707788C2779201268 @default.
• W2068707788 hasConceptScore W2068707788C501734568 @default.

• next