Matches in SemOpenAlex for { <https://semopenalex.org/work/W185509929> ?p ?o ?g. }
Showing items 1 to 90 of
90
with 100 items per page.
- W185509929 endingPage "33" @default.
- W185509929 startingPage "525" @default.
- W185509929 abstract "The alpha4 chain of the type 4 collagen family is an important component of the glomerular basement membrane (GBM) in the kidney. It is encoded by the COL4A4 gene, and mutations of this gene are known to be associated with thin basement membrane nephropathy (TBMN). To better understand the contribution of variants in the COL4A4 gene to TBMN, we investigated the sequence of the complete COL4A4 gene in 45 Korean patients with TBMN.Genomic DNA was obtained from the peripheral blood lymphocytes. For the analysis of the COL4A4 gene, all the exons including splicing sites were amplified by PCR and screened by direct sequencing analysis.Eight novel COL4A4 sequence variants were found in these patients. Two of these variants, G199R and G1606E, were possibly pathogenic variants affecting the phenotype. None of these variants were observed in 286 chromosomes from normal Korean control subjects. In addition, 39 polymorphisms including 7 novel SNPs were identified in this study.The frequency of COL4A4 mutations in Korean patients with TBMN is low and the other cases may have mutations in other genes like COL4A3. Screening of the COL4A3 gene and finding a novel causative gene for TBMN will help clarify the pathogenesis of this disorder and perhaps for distinguishing TBMN from Alport syndrome." @default.
- W185509929 created "2016-06-24" @default.
- W185509929 creator A5009150313 @default.
- W185509929 creator A5026681307 @default.
- W185509929 creator A5041247909 @default.
- W185509929 creator A5060453701 @default.
- W185509929 creator A5085491969 @default.
- W185509929 creator A5089583488 @default.
- W185509929 creator A5091223225 @default.
- W185509929 date "2009-05-01" @default.
- W185509929 modified "2023-09-23" @default.
- W185509929 title "Identification of novel variants in the COL4A4 gene in Korean patients with thin basement membrane nephropathy." @default.
- W185509929 cites W1550732922 @default.
- W185509929 cites W1964880481 @default.
- W185509929 cites W1966156580 @default.
- W185509929 cites W2015363054 @default.
- W185509929 cites W2034760792 @default.
- W185509929 cites W2040301131 @default.
- W185509929 cites W2047572152 @default.
- W185509929 cites W2052060155 @default.
- W185509929 cites W2084341903 @default.
- W185509929 cites W2087071942 @default.
- W185509929 cites W2099864939 @default.
- W185509929 cites W2119619243 @default.
- W185509929 cites W2134602708 @default.
- W185509929 cites W2136112893 @default.
- W185509929 cites W2158708663 @default.
- W185509929 cites W2266245092 @default.
- W185509929 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19675380" @default.
- W185509929 hasPublicationYear "2009" @default.
- W185509929 type Work @default.
- W185509929 sameAs 185509929 @default.
- W185509929 citedByCount "6" @default.
- W185509929 countsByYear W1855099292016 @default.
- W185509929 countsByYear W1855099292020 @default.
- W185509929 countsByYear W1855099292021 @default.
- W185509929 countsByYear W1855099292022 @default.
- W185509929 crossrefType "journal-article" @default.
- W185509929 hasAuthorship W185509929A5009150313 @default.
- W185509929 hasAuthorship W185509929A5026681307 @default.
- W185509929 hasAuthorship W185509929A5041247909 @default.
- W185509929 hasAuthorship W185509929A5060453701 @default.
- W185509929 hasAuthorship W185509929A5085491969 @default.
- W185509929 hasAuthorship W185509929A5089583488 @default.
- W185509929 hasAuthorship W185509929A5091223225 @default.
- W185509929 hasConcept C104317684 @default.
- W185509929 hasConcept C135763542 @default.
- W185509929 hasConcept C153209595 @default.
- W185509929 hasConcept C2776115139 @default.
- W185509929 hasConcept C2776193487 @default.
- W185509929 hasConcept C2776908417 @default.
- W185509929 hasConcept C2780091579 @default.
- W185509929 hasConcept C2780368995 @default.
- W185509929 hasConcept C36823959 @default.
- W185509929 hasConcept C54355233 @default.
- W185509929 hasConcept C86803240 @default.
- W185509929 hasConcept C95444343 @default.
- W185509929 hasConceptScore W185509929C104317684 @default.
- W185509929 hasConceptScore W185509929C135763542 @default.
- W185509929 hasConceptScore W185509929C153209595 @default.
- W185509929 hasConceptScore W185509929C2776115139 @default.
- W185509929 hasConceptScore W185509929C2776193487 @default.
- W185509929 hasConceptScore W185509929C2776908417 @default.
- W185509929 hasConceptScore W185509929C2780091579 @default.
- W185509929 hasConceptScore W185509929C2780368995 @default.
- W185509929 hasConceptScore W185509929C36823959 @default.
- W185509929 hasConceptScore W185509929C54355233 @default.
- W185509929 hasConceptScore W185509929C86803240 @default.
- W185509929 hasConceptScore W185509929C95444343 @default.
- W185509929 hasIssue "5" @default.
- W185509929 hasLocation W1855099291 @default.
- W185509929 hasOpenAccess W185509929 @default.
- W185509929 hasPrimaryLocation W1855099291 @default.
- W185509929 hasRelatedWork W2013921166 @default.
- W185509929 hasRelatedWork W2036026599 @default.
- W185509929 hasRelatedWork W2045499610 @default.
- W185509929 hasRelatedWork W2047185566 @default.
- W185509929 hasRelatedWork W2092997581 @default.
- W185509929 hasRelatedWork W2094608156 @default.
- W185509929 hasRelatedWork W2101630550 @default.
- W185509929 hasRelatedWork W2143831996 @default.
- W185509929 hasRelatedWork W2271292582 @default.
- W185509929 hasRelatedWork W2350983581 @default.
- W185509929 hasVolume "129" @default.
- W185509929 isParatext "false" @default.
- W185509929 isRetracted "false" @default.
- W185509929 magId "185509929" @default.
- W185509929 workType "article" @default.