FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2000265141> ?p ?o ?g. }

• W2000265141 endingPage "270" @default.
• W2000265141 startingPage "267" @default.
• W2000265141 abstract "Kindler syndrome (OMIM 173650) is an autosomal recessive condition characterized by skin blistering, skin atrophy, photosensitivity, colonic inflammation and mucosal stenosis. Fewer than 100 cases have been described in the literature. First reported in 1954, the molecular basis of Kindler syndrome was elucidated in 2003 with the discovery of FERMT1 (KIND1) loss-of-function mutations in affected individuals. The FERMT1 gene encodes kindlin-1 (also known as fermitin family homologue 1), a 77 kDa protein that localizes at focal adhesions, where it plays an important role in integrin signalling. In the current study, we describe five novel and three recurrent loss-of-function FERMT1 mutations in eight individuals with Kindler syndrome, and provide an overview of genotype-phenotype correlation in this disorder." @default.
• W2000265141 created "2016-06-24" @default.
• W2000265141 creator A5003144991 @default.
• W2000265141 creator A5010088112 @default.
• W2000265141 creator A5017649832 @default.
• W2000265141 creator A5027969028 @default.
• W2000265141 creator A5031492399 @default.
• W2000265141 creator A5034146645 @default.
• W2000265141 creator A5035785798 @default.
• W2000265141 creator A5040215158 @default.
• W2000265141 creator A5040672395 @default.
• W2000265141 creator A5043829799 @default.
• W2000265141 creator A5085219761 @default.
• W2000265141 creator A5091680581 @default.
• W2000265141 date "2011-01-01" @default.
• W2000265141 modified "2023-10-17" @default.
• W2000265141 title "Novel and Recurrent FERMT1 Gene Mutations in Kindler Syndrome" @default.
• W2000265141 cites W1965973253 @default.
• W2000265141 cites W1974508167 @default.
• W2000265141 cites W1982617894 @default.
• W2000265141 cites W1993348040 @default.
• W2000265141 cites W2001345840 @default.
• W2000265141 cites W2005066249 @default.
• W2000265141 cites W2011101358 @default.
• W2000265141 cites W2025223653 @default.
• W2000265141 cites W2031306881 @default.
• W2000265141 cites W2054660342 @default.
• W2000265141 cites W2061457622 @default.
• W2000265141 cites W2070392970 @default.
• W2000265141 cites W2082879920 @default.
• W2000265141 cites W2086472592 @default.
• W2000265141 cites W2090326236 @default.
• W2000265141 cites W2098467853 @default.
• W2000265141 cites W2125808023 @default.
• W2000265141 cites W2150818758 @default.
• W2000265141 cites W2171278825 @default.
• W2000265141 cites W2885778705 @default.
• W2000265141 doi "https://doi.org/10.2340/00015555-1063" @default.
• W2000265141 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21336475" @default.
• W2000265141 hasPublicationYear "2011" @default.
• W2000265141 type Work @default.
• W2000265141 sameAs 2000265141 @default.
• W2000265141 citedByCount "23" @default.
• W2000265141 countsByYear W20002651412012 @default.
• W2000265141 countsByYear W20002651412013 @default.
• W2000265141 countsByYear W20002651412014 @default.
• W2000265141 countsByYear W20002651412015 @default.
• W2000265141 countsByYear W20002651412016 @default.
• W2000265141 countsByYear W20002651412019 @default.
• W2000265141 countsByYear W20002651412020 @default.
• W2000265141 countsByYear W20002651412021 @default.
• W2000265141 countsByYear W20002651412023 @default.
• W2000265141 crossrefType "journal-article" @default.
• W2000265141 hasAuthorship W2000265141A5003144991 @default.
• W2000265141 hasAuthorship W2000265141A5010088112 @default.
• W2000265141 hasAuthorship W2000265141A5017649832 @default.
• W2000265141 hasAuthorship W2000265141A5027969028 @default.
• W2000265141 hasAuthorship W2000265141A5031492399 @default.
• W2000265141 hasAuthorship W2000265141A5034146645 @default.
• W2000265141 hasAuthorship W2000265141A5035785798 @default.
• W2000265141 hasAuthorship W2000265141A5040215158 @default.
• W2000265141 hasAuthorship W2000265141A5040672395 @default.
• W2000265141 hasAuthorship W2000265141A5043829799 @default.
• W2000265141 hasAuthorship W2000265141A5085219761 @default.
• W2000265141 hasAuthorship W2000265141A5091680581 @default.
• W2000265141 hasBestOaLocation W20002651411 @default.
• W2000265141 hasConcept C104317684 @default.
• W2000265141 hasConcept C105951970 @default.
• W2000265141 hasConcept C127716648 @default.
• W2000265141 hasConcept C151166631 @default.
• W2000265141 hasConcept C2781172350 @default.
• W2000265141 hasConcept C501734568 @default.
• W2000265141 hasConcept C502942594 @default.
• W2000265141 hasConcept C54355233 @default.
• W2000265141 hasConcept C62478195 @default.
• W2000265141 hasConcept C71924100 @default.
• W2000265141 hasConcept C86803240 @default.
• W2000265141 hasConceptScore W2000265141C104317684 @default.
• W2000265141 hasConceptScore W2000265141C105951970 @default.
• W2000265141 hasConceptScore W2000265141C127716648 @default.
• W2000265141 hasConceptScore W2000265141C151166631 @default.
• W2000265141 hasConceptScore W2000265141C2781172350 @default.
• W2000265141 hasConceptScore W2000265141C501734568 @default.
• W2000265141 hasConceptScore W2000265141C502942594 @default.
• W2000265141 hasConceptScore W2000265141C54355233 @default.
• W2000265141 hasConceptScore W2000265141C62478195 @default.
• W2000265141 hasConceptScore W2000265141C71924100 @default.
• W2000265141 hasConceptScore W2000265141C86803240 @default.
• W2000265141 hasIssue "3" @default.
• W2000265141 hasLocation W20002651411 @default.
• W2000265141 hasLocation W20002651412 @default.
• W2000265141 hasOpenAccess W2000265141 @default.
• W2000265141 hasPrimaryLocation W20002651411 @default.
• W2000265141 hasRelatedWork W1530402712 @default.
• W2000265141 hasRelatedWork W2057188689 @default.
• W2000265141 hasRelatedWork W2121760608 @default.
• W2000265141 hasRelatedWork W2125731289 @default.
• W2000265141 hasRelatedWork W2132993604 @default.

• next