FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3007197872> ?p ?o ?g. }

• W3007197872 endingPage "462" @default.
• W3007197872 startingPage "458" @default.
• W3007197872 abstract "MIRAGE syndrome is a multisystem disorder characterized by myelodysplasia, infections, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. Mutations in the sterile alpha motif domain containing 9 (SAMD9) gene which encodes a protein involved in growth factor signal transduction are thought to cause MIRAGE syndrome. SAMD9 mutations lead to an antiproliferative effect resulting in a multisystem growth restriction disorder. Though rare, a few patients with SAMD9 mutations were reported to have hydrocephalus and/or cerebellar hypoplasia on imaging. The neuropathologic features of MIRAGE syndrome have not been previously described. Here, we describe the postmortem neuropathologic examinations of 2 patients with a clinical diagnosis of MIRAGE syndrome and confirmed SAMD9 mutations. Common features included microcephaly, hydrocephalus, white matter abnormalities, and perivascular calcifications. One of the 2 cases showed marked cerebellar hypoplasia with loss of Purkinje and granule neurons as well as multifocal polymicrogyria and severe white matter volume loss; similar findings were not observed in the second patient. These cases demonstrate the variation in neuropathologic findings in patients with MIRAGE syndrome. Interestingly, the findings are similar to those reported in ataxia-pancytopenia syndrome caused by mutations in SAMD9L, a paralogue of SAMD9." @default.
• W3007197872 created "2020-03-06" @default.
• W3007197872 creator A5028318848 @default.
• W3007197872 creator A5068308707 @default.
• W3007197872 date "2020-02-07" @default.
• W3007197872 modified "2023-10-16" @default.
• W3007197872 title "The Neuropathology of MIRAGE Syndrome" @default.
• W3007197872 cites W1494065225 @default.
• W3007197872 cites W2055519810 @default.
• W3007197872 cites W2081288273 @default.
• W3007197872 cites W2134002822 @default.
• W3007197872 cites W2399654760 @default.
• W3007197872 cites W2410168491 @default.
• W3007197872 cites W2588137098 @default.
• W3007197872 cites W2599756044 @default.
• W3007197872 cites W2613131700 @default.
• W3007197872 cites W2779504785 @default.
• W3007197872 cites W2783796711 @default.
• W3007197872 cites W2792013605 @default.
• W3007197872 cites W2883674070 @default.
• W3007197872 cites W2900098324 @default.
• W3007197872 doi "https://doi.org/10.1093/jnen/nlaa009" @default.
• W3007197872 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32106287" @default.
• W3007197872 hasPublicationYear "2020" @default.
• W3007197872 type Work @default.
• W3007197872 sameAs 3007197872 @default.
• W3007197872 citedByCount "5" @default.
• W3007197872 countsByYear W30071978722020 @default.
• W3007197872 countsByYear W30071978722021 @default.
• W3007197872 countsByYear W30071978722022 @default.
• W3007197872 countsByYear W30071978722023 @default.
• W3007197872 crossrefType "journal-article" @default.
• W3007197872 hasAuthorship W3007197872A5028318848 @default.
• W3007197872 hasAuthorship W3007197872A5068308707 @default.
• W3007197872 hasBestOaLocation W30071978721 @default.
• W3007197872 hasConcept C105702510 @default.
• W3007197872 hasConcept C118552586 @default.
• W3007197872 hasConcept C126322002 @default.
• W3007197872 hasConcept C126838900 @default.
• W3007197872 hasConcept C141071460 @default.
• W3007197872 hasConcept C142724271 @default.
• W3007197872 hasConcept C143409427 @default.
• W3007197872 hasConcept C187212893 @default.
• W3007197872 hasConcept C2775984644 @default.
• W3007197872 hasConcept C2776395126 @default.
• W3007197872 hasConcept C2778134817 @default.
• W3007197872 hasConcept C2778186239 @default.
• W3007197872 hasConcept C2778234038 @default.
• W3007197872 hasConcept C2778596996 @default.
• W3007197872 hasConcept C2779134260 @default.
• W3007197872 hasConcept C2779652256 @default.
• W3007197872 hasConcept C2779778371 @default.
• W3007197872 hasConcept C2780130745 @default.
• W3007197872 hasConcept C2780327212 @default.
• W3007197872 hasConcept C2780906641 @default.
• W3007197872 hasConcept C2781192897 @default.
• W3007197872 hasConcept C71924100 @default.
• W3007197872 hasConceptScore W3007197872C105702510 @default.
• W3007197872 hasConceptScore W3007197872C118552586 @default.
• W3007197872 hasConceptScore W3007197872C126322002 @default.
• W3007197872 hasConceptScore W3007197872C126838900 @default.
• W3007197872 hasConceptScore W3007197872C141071460 @default.
• W3007197872 hasConceptScore W3007197872C142724271 @default.
• W3007197872 hasConceptScore W3007197872C143409427 @default.
• W3007197872 hasConceptScore W3007197872C187212893 @default.
• W3007197872 hasConceptScore W3007197872C2775984644 @default.
• W3007197872 hasConceptScore W3007197872C2776395126 @default.
• W3007197872 hasConceptScore W3007197872C2778134817 @default.
• W3007197872 hasConceptScore W3007197872C2778186239 @default.
• W3007197872 hasConceptScore W3007197872C2778234038 @default.
• W3007197872 hasConceptScore W3007197872C2778596996 @default.
• W3007197872 hasConceptScore W3007197872C2779134260 @default.
• W3007197872 hasConceptScore W3007197872C2779652256 @default.
• W3007197872 hasConceptScore W3007197872C2779778371 @default.
• W3007197872 hasConceptScore W3007197872C2780130745 @default.
• W3007197872 hasConceptScore W3007197872C2780327212 @default.
• W3007197872 hasConceptScore W3007197872C2780906641 @default.
• W3007197872 hasConceptScore W3007197872C2781192897 @default.
• W3007197872 hasConceptScore W3007197872C71924100 @default.
• W3007197872 hasIssue "4" @default.
• W3007197872 hasLocation W30071978721 @default.
• W3007197872 hasLocation W30071978722 @default.
• W3007197872 hasOpenAccess W3007197872 @default.
• W3007197872 hasPrimaryLocation W30071978721 @default.
• W3007197872 hasRelatedWork W2045062603 @default.
• W3007197872 hasRelatedWork W2060115111 @default.
• W3007197872 hasRelatedWork W2075725530 @default.
• W3007197872 hasRelatedWork W2129020715 @default.
• W3007197872 hasRelatedWork W2319322112 @default.
• W3007197872 hasRelatedWork W2415357001 @default.
• W3007197872 hasRelatedWork W2900759791 @default.
• W3007197872 hasRelatedWork W3007197872 @default.
• W3007197872 hasRelatedWork W3022310194 @default.
• W3007197872 hasRelatedWork W47461453 @default.
• W3007197872 hasVolume "79" @default.
• W3007197872 isParatext "false" @default.
• W3007197872 isRetracted "false" @default.
• W3007197872 magId "3007197872" @default.

• next