FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3201538575> ?p ?o ?g. }

• W3201538575 endingPage "782" @default.
• W3201538575 startingPage "776" @default.
• W3201538575 abstract "We report a case of nail-patella syndrome (NPS) with unusual thinning of the glomerular basement membrane (GBM) associated with a novel heterozygous variant in the LMX1B gene. A 43-year-old female patient with a previous diagnosis of NPS, referred to our hospital for persistent proteinuria, underwent a renal biopsy, which revealed minor glomerular abnormalities. She underwent a second renal biopsy at the age of 56 owing to the presence of persistent proteinuria and decline in serum albumin, meeting the diagnostic criteria for nephrotic syndrome. Light microscopy demonstrated glomerulosclerosis and cystic dilatation of the renal tubules. Notably, electron microscopy revealed unusual thinning of the GBM, which is quite different from typical biopsy findings observed in patients with NPS, characterized by thick GBM with fibrillary material and electron-lucent structures. Comprehensive genetic screening for 168 known genes responsible for inherited kidney diseases using a next-generation sequencing panel identified a novel heterozygous in-frame deletion-insertion (c.723_729delinsCAAC: p.[Ser242_Lys243delinsAsn]) in exon 4 of the LMX1B gene, which may account for the disrupted GBM structure. Further studies are warranted to elucidate the complex genotype-phenotype relationship between LMX1B and proper GBM morphogenesis." @default.
• W3201538575 created "2021-09-27" @default.
• W3201538575 creator A5008087809 @default.
• W3201538575 creator A5008493036 @default.
• W3201538575 creator A5014211260 @default.
• W3201538575 creator A5016613844 @default.
• W3201538575 creator A5021087086 @default.
• W3201538575 creator A5039702075 @default.
• W3201538575 creator A5043886064 @default.
• W3201538575 creator A5044392733 @default.
• W3201538575 creator A5048386998 @default.
• W3201538575 creator A5053103925 @default.
• W3201538575 creator A5057511887 @default.
• W3201538575 creator A5058547978 @default.
• W3201538575 creator A5067626549 @default.
• W3201538575 creator A5073817631 @default.
• W3201538575 creator A5090260768 @default.
• W3201538575 date "2021-01-01" @default.
• W3201538575 modified "2023-09-24" @default.
• W3201538575 title "A Novel <b><i>LMX1B</i></b> Variant Identified in a Patient Presenting with Severe Renal Involvement and Thin Glomerular Basement Membrane" @default.
• W3201538575 cites W1501828520 @default.
• W3201538575 cites W1965375037 @default.
• W3201538575 cites W1965399667 @default.
• W3201538575 cites W1969426707 @default.
• W3201538575 cites W1999488803 @default.
• W3201538575 cites W2006322559 @default.
• W3201538575 cites W2029433163 @default.
• W3201538575 cites W2033104468 @default.
• W3201538575 cites W2043364537 @default.
• W3201538575 cites W2051978340 @default.
• W3201538575 cites W2052060155 @default.
• W3201538575 cites W2065013649 @default.
• W3201538575 cites W2075000039 @default.
• W3201538575 cites W2098016006 @default.
• W3201538575 cites W2101590985 @default.
• W3201538575 cites W2143181482 @default.
• W3201538575 cites W2144353399 @default.
• W3201538575 cites W2151054608 @default.
• W3201538575 cites W2154866190 @default.
• W3201538575 cites W2158352052 @default.
• W3201538575 cites W2288551216 @default.
• W3201538575 cites W2325804072 @default.
• W3201538575 cites W2415932927 @default.
• W3201538575 cites W2604078450 @default.
• W3201538575 cites W2611463515 @default.
• W3201538575 cites W2754803625 @default.
• W3201538575 cites W3022529256 @default.
• W3201538575 cites W3036487724 @default.
• W3201538575 cites W2620173090 @default.
• W3201538575 doi "https://doi.org/10.1159/000518423" @default.
• W3201538575 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34515165" @default.
• W3201538575 hasPublicationYear "2021" @default.
• W3201538575 type Work @default.
• W3201538575 sameAs 3201538575 @default.
• W3201538575 citedByCount "0" @default.
• W3201538575 crossrefType "journal-article" @default.
• W3201538575 hasAuthorship W3201538575A5008087809 @default.
• W3201538575 hasAuthorship W3201538575A5008493036 @default.
• W3201538575 hasAuthorship W3201538575A5014211260 @default.
• W3201538575 hasAuthorship W3201538575A5016613844 @default.
• W3201538575 hasAuthorship W3201538575A5021087086 @default.
• W3201538575 hasAuthorship W3201538575A5039702075 @default.
• W3201538575 hasAuthorship W3201538575A5043886064 @default.
• W3201538575 hasAuthorship W3201538575A5044392733 @default.
• W3201538575 hasAuthorship W3201538575A5048386998 @default.
• W3201538575 hasAuthorship W3201538575A5053103925 @default.
• W3201538575 hasAuthorship W3201538575A5057511887 @default.
• W3201538575 hasAuthorship W3201538575A5058547978 @default.
• W3201538575 hasAuthorship W3201538575A5067626549 @default.
• W3201538575 hasAuthorship W3201538575A5073817631 @default.
• W3201538575 hasAuthorship W3201538575A5090260768 @default.
• W3201538575 hasConcept C126322002 @default.
• W3201538575 hasConcept C142724271 @default.
• W3201538575 hasConcept C2775934546 @default.
• W3201538575 hasConcept C2776115139 @default.
• W3201538575 hasConcept C2778415529 @default.
• W3201538575 hasConcept C2778930706 @default.
• W3201538575 hasConcept C2779561371 @default.
• W3201538575 hasConcept C2780091579 @default.
• W3201538575 hasConcept C2780368995 @default.
• W3201538575 hasConcept C2781087799 @default.
• W3201538575 hasConcept C71924100 @default.
• W3201538575 hasConceptScore W3201538575C126322002 @default.
• W3201538575 hasConceptScore W3201538575C142724271 @default.
• W3201538575 hasConceptScore W3201538575C2775934546 @default.
• W3201538575 hasConceptScore W3201538575C2776115139 @default.
• W3201538575 hasConceptScore W3201538575C2778415529 @default.
• W3201538575 hasConceptScore W3201538575C2778930706 @default.
• W3201538575 hasConceptScore W3201538575C2779561371 @default.
• W3201538575 hasConceptScore W3201538575C2780091579 @default.
• W3201538575 hasConceptScore W3201538575C2780368995 @default.
• W3201538575 hasConceptScore W3201538575C2781087799 @default.
• W3201538575 hasConceptScore W3201538575C71924100 @default.
• W3201538575 hasIssue "6" @default.
• W3201538575 hasLocation W32015385751 @default.
• W3201538575 hasLocation W32015385752 @default.
• W3201538575 hasOpenAccess W3201538575 @default.
• W3201538575 hasPrimaryLocation W32015385751 @default.

• next