FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2142114370> ?p ?o ?g. }

• W2142114370 endingPage "914" @default.
• W2142114370 startingPage "910" @default.
• W2142114370 abstract "Denys–Drash syndrome (DDS) is characterized by early onset of nephropathy, genitalia malformation, and Wilms’ tumor, where WT1 is the gene that is mutated in most patients. We report two de novo mutations in WT1 found in two Chinese DDS children. Patient 1 was a boy with complete DDS who was presented with progressive nephropathy, unilateral Wilms’ tumor, bilateral cryptorchidism, and renal histology showing diffuse mesangial sclerosis (DMS). When the patient was 24 months old, a liver ultrasound showed multiple nodules, and the patient died of pneumonia 1 month later. The de novo novel mutation, c.1130A>T (p.His377Leu), was identified; the mutation replaces histidine with leucine in the zinc finger (Znf) structure and is predicted to change the local spatial structure of the protein. Patient 2 had 46 XX with incomplete DDS and presented with normal genitalia, proteinuria, unilateral Wilms’ tumor with renal pedicle lymph node metastasis, and renal histology showing DMS. Her renal function remains normal after 48 months. A de novo mutation, c.1168C>T (p.Arg390Term), was identified; it truncates 60 amino acids at the C terminus, and it is predicted to result in loss of the DNA-binding capacities of the WT1 protein." @default.
• W2142114370 created "2016-06-24" @default.
• W2142114370 creator A5000077691 @default.
• W2142114370 creator A5001918143 @default.
• W2142114370 creator A5006415514 @default.
• W2142114370 creator A5007829624 @default.
• W2142114370 creator A5015343168 @default.
• W2142114370 creator A5019373659 @default.
• W2142114370 creator A5026952904 @default.
• W2142114370 creator A5037335239 @default.
• W2142114370 creator A5048256325 @default.
• W2142114370 creator A5055917280 @default.
• W2142114370 creator A5073805378 @default.
• W2142114370 creator A5081481993 @default.
• W2142114370 date "2011-08-18" @default.
• W2142114370 modified "2023-10-14" @default.
• W2142114370 title "Clinical Pictures and Novel Mutations ofWT1-Associated Denys–Drash Syndrome in Two Chinese Children" @default.
• W2142114370 cites W1992861674 @default.
• W2142114370 cites W2002526198 @default.
• W2142114370 cites W2012232665 @default.
• W2142114370 cites W2023905569 @default.
• W2142114370 cites W2056667531 @default.
• W2142114370 cites W2071482032 @default.
• W2142114370 cites W2081584565 @default.
• W2142114370 cites W2098111179 @default.
• W2142114370 cites W2100659482 @default.
• W2142114370 cites W2110746835 @default.
• W2142114370 cites W2148069086 @default.
• W2142114370 doi "https://doi.org/10.3109/0886022x.2011.605528" @default.
• W2142114370 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21851196" @default.
• W2142114370 hasPublicationYear "2011" @default.
• W2142114370 type Work @default.
• W2142114370 sameAs 2142114370 @default.
• W2142114370 citedByCount "2" @default.
• W2142114370 countsByYear W21421143702014 @default.
• W2142114370 crossrefType "journal-article" @default.
• W2142114370 hasAuthorship W2142114370A5000077691 @default.
• W2142114370 hasAuthorship W2142114370A5001918143 @default.
• W2142114370 hasAuthorship W2142114370A5006415514 @default.
• W2142114370 hasAuthorship W2142114370A5007829624 @default.
• W2142114370 hasAuthorship W2142114370A5015343168 @default.
• W2142114370 hasAuthorship W2142114370A5019373659 @default.
• W2142114370 hasAuthorship W2142114370A5026952904 @default.
• W2142114370 hasAuthorship W2142114370A5037335239 @default.
• W2142114370 hasAuthorship W2142114370A5048256325 @default.
• W2142114370 hasAuthorship W2142114370A5055917280 @default.
• W2142114370 hasAuthorship W2142114370A5073805378 @default.
• W2142114370 hasAuthorship W2142114370A5081481993 @default.
• W2142114370 hasConcept C104317684 @default.
• W2142114370 hasConcept C126322002 @default.
• W2142114370 hasConcept C134018914 @default.
• W2142114370 hasConcept C142724271 @default.
• W2142114370 hasConcept C159641895 @default.
• W2142114370 hasConcept C24284526 @default.
• W2142114370 hasConcept C2775999222 @default.
• W2142114370 hasConcept C2779561371 @default.
• W2142114370 hasConcept C2780091579 @default.
• W2142114370 hasConcept C2781184683 @default.
• W2142114370 hasConcept C501734568 @default.
• W2142114370 hasConcept C54355233 @default.
• W2142114370 hasConcept C555293320 @default.
• W2142114370 hasConcept C71924100 @default.
• W2142114370 hasConcept C86339819 @default.
• W2142114370 hasConcept C86803240 @default.
• W2142114370 hasConceptScore W2142114370C104317684 @default.
• W2142114370 hasConceptScore W2142114370C126322002 @default.
• W2142114370 hasConceptScore W2142114370C134018914 @default.
• W2142114370 hasConceptScore W2142114370C142724271 @default.
• W2142114370 hasConceptScore W2142114370C159641895 @default.
• W2142114370 hasConceptScore W2142114370C24284526 @default.
• W2142114370 hasConceptScore W2142114370C2775999222 @default.
• W2142114370 hasConceptScore W2142114370C2779561371 @default.
• W2142114370 hasConceptScore W2142114370C2780091579 @default.
• W2142114370 hasConceptScore W2142114370C2781184683 @default.
• W2142114370 hasConceptScore W2142114370C501734568 @default.
• W2142114370 hasConceptScore W2142114370C54355233 @default.
• W2142114370 hasConceptScore W2142114370C555293320 @default.
• W2142114370 hasConceptScore W2142114370C71924100 @default.
• W2142114370 hasConceptScore W2142114370C86339819 @default.
• W2142114370 hasConceptScore W2142114370C86803240 @default.
• W2142114370 hasIssue "9" @default.
• W2142114370 hasLocation W21421143701 @default.
• W2142114370 hasLocation W21421143702 @default.
• W2142114370 hasOpenAccess W2142114370 @default.
• W2142114370 hasPrimaryLocation W21421143701 @default.
• W2142114370 hasRelatedWork W2042033030 @default.
• W2142114370 hasRelatedWork W2048039626 @default.
• W2142114370 hasRelatedWork W2070511355 @default.
• W2142114370 hasRelatedWork W2082456910 @default.
• W2142114370 hasRelatedWork W2098742882 @default.
• W2142114370 hasRelatedWork W2127085070 @default.
• W2142114370 hasRelatedWork W2319873196 @default.
• W2142114370 hasRelatedWork W2374101681 @default.
• W2142114370 hasRelatedWork W2400445066 @default.
• W2142114370 hasRelatedWork W2042893290 @default.
• W2142114370 hasVolume "33" @default.
• W2142114370 isParatext "false" @default.
• W2142114370 isRetracted "false" @default.

• next