FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2085887379> ?p ?o ?g. }

• W2085887379 endingPage "137" @default.
• W2085887379 startingPage "133" @default.
• W2085887379 abstract "Mutations in the NPHS1 and NPHS2 genes are among the main causes of early-onset and familial steroid resistant nephrotic syndrome respectively. This study was carried out to assess the frequencies of mutations in these two genes in a cohort of Pakistani pediatric NS patients. Mutation analysis was carried out by direct sequencing of the NPHS1 and NPHS2 genes in 145 nephrotic syndrome (NS) patients. This cohort included 36 samples of congenital or infantile onset NS cases and 39 samples of familial cases obtained from 30 families. A total of 7 homozygous (6 novel) mutations were found in the NPHS1 gene and 4 homozygous mutations in the NPHS2 gene. All mutations in the NPHS1 gene were found in the early onset cases. Of these, one patient has a family history of NS. Homozygous p.R229Q mutation in the NPHS2 gene was found in two children with childhood-onset NS. Our results show a low prevalence of disease causing mutations in the NPHS1 (22% early onset, 5.5% overall) and NPHS2 (3.3% early onset and 3.4% overall) genes in the Pakistani NS children as compared to the European populations. In contrast to the high frequency of the NPHS2 gene mutations reported for familial SRNS in Europe, no mutation was found in the familial Pakistani cases. To our knowledge, this is the first comprehensive screening of the NPHS1 and NPHS2 gene mutations in sporadic and familial NS cases from South Asia." @default.
• W2085887379 created "2016-06-24" @default.
• W2085887379 creator A5002464720 @default.
• W2085887379 creator A5006259674 @default.
• W2085887379 creator A5006451534 @default.
• W2085887379 creator A5014088328 @default.
• W2085887379 creator A5015965229 @default.
• W2085887379 creator A5017664086 @default.
• W2085887379 creator A5020220957 @default.
• W2085887379 creator A5063983429 @default.
• W2085887379 creator A5067071609 @default.
• W2085887379 creator A5067550666 @default.
• W2085887379 creator A5079187077 @default.
• W2085887379 creator A5088171409 @default.
• W2085887379 date "2012-07-01" @default.
• W2085887379 modified "2023-10-17" @default.
• W2085887379 title "A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan" @default.
• W2085887379 cites W1967456983 @default.
• W2085887379 cites W1973794656 @default.
• W2085887379 cites W1977975114 @default.
• W2085887379 cites W1993387604 @default.
• W2085887379 cites W2026138339 @default.
• W2085887379 cites W2035646489 @default.
• W2085887379 cites W2043680545 @default.
• W2085887379 cites W2048677414 @default.
• W2085887379 cites W2052480809 @default.
• W2085887379 cites W2054225562 @default.
• W2085887379 cites W2059145105 @default.
• W2085887379 cites W2098450085 @default.
• W2085887379 cites W2102360423 @default.
• W2085887379 cites W2105495968 @default.
• W2085887379 cites W2110230080 @default.
• W2085887379 cites W2110895523 @default.
• W2085887379 cites W2115106870 @default.
• W2085887379 cites W2115197028 @default.
• W2085887379 cites W2118849350 @default.
• W2085887379 cites W2120196339 @default.
• W2085887379 cites W2123873294 @default.
• W2085887379 cites W2124308669 @default.
• W2085887379 cites W2126226666 @default.
• W2085887379 cites W2129416468 @default.
• W2085887379 cites W2133282268 @default.
• W2085887379 cites W2144328942 @default.
• W2085887379 cites W2152073293 @default.
• W2085887379 cites W2152253630 @default.
• W2085887379 cites W2158904240 @default.
• W2085887379 cites W2163589031 @default.
• W2085887379 cites W2166779276 @default.
• W2085887379 cites W2171989541 @default.
• W2085887379 cites W4212860823 @default.
• W2085887379 cites W4247055583 @default.
• W2085887379 doi "https://doi.org/10.1016/j.gene.2012.04.063" @default.
• W2085887379 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22565185" @default.
• W2085887379 hasPublicationYear "2012" @default.
• W2085887379 type Work @default.
• W2085887379 sameAs 2085887379 @default.
• W2085887379 citedByCount "41" @default.
• W2085887379 countsByYear W20858873792013 @default.
• W2085887379 countsByYear W20858873792014 @default.
• W2085887379 countsByYear W20858873792015 @default.
• W2085887379 countsByYear W20858873792016 @default.
• W2085887379 countsByYear W20858873792017 @default.
• W2085887379 countsByYear W20858873792018 @default.
• W2085887379 countsByYear W20858873792019 @default.
• W2085887379 countsByYear W20858873792020 @default.
• W2085887379 countsByYear W20858873792021 @default.
• W2085887379 countsByYear W20858873792022 @default.
• W2085887379 crossrefType "journal-article" @default.
• W2085887379 hasAuthorship W2085887379A5002464720 @default.
• W2085887379 hasAuthorship W2085887379A5006259674 @default.
• W2085887379 hasAuthorship W2085887379A5006451534 @default.
• W2085887379 hasAuthorship W2085887379A5014088328 @default.
• W2085887379 hasAuthorship W2085887379A5015965229 @default.
• W2085887379 hasAuthorship W2085887379A5017664086 @default.
• W2085887379 hasAuthorship W2085887379A5020220957 @default.
• W2085887379 hasAuthorship W2085887379A5063983429 @default.
• W2085887379 hasAuthorship W2085887379A5067071609 @default.
• W2085887379 hasAuthorship W2085887379A5067550666 @default.
• W2085887379 hasAuthorship W2085887379A5079187077 @default.
• W2085887379 hasAuthorship W2085887379A5088171409 @default.
• W2085887379 hasConcept C104317684 @default.
• W2085887379 hasConcept C134018914 @default.
• W2085887379 hasConcept C2778930706 @default.
• W2085887379 hasConcept C501734568 @default.
• W2085887379 hasConcept C54355233 @default.
• W2085887379 hasConcept C86803240 @default.
• W2085887379 hasConceptScore W2085887379C104317684 @default.
• W2085887379 hasConceptScore W2085887379C134018914 @default.
• W2085887379 hasConceptScore W2085887379C2778930706 @default.
• W2085887379 hasConceptScore W2085887379C501734568 @default.
• W2085887379 hasConceptScore W2085887379C54355233 @default.
• W2085887379 hasConceptScore W2085887379C86803240 @default.
• W2085887379 hasIssue "2" @default.
• W2085887379 hasLocation W20858873791 @default.
• W2085887379 hasLocation W20858873792 @default.
• W2085887379 hasOpenAccess W2085887379 @default.
• W2085887379 hasPrimaryLocation W20858873791 @default.
• W2085887379 hasRelatedWork W1641042124 @default.

• next