FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2394390012> ?p ?o ?g. }

• W2394390012 endingPage "S101" @default.
• W2394390012 startingPage "S101.1" @default.
• W2394390012 abstract "<h3></h3> Costello syndrome (CS; MIM 214080) is a rare multiple congenital anomaly disorder in which individuals have characteristic dysmorphic craniofacial features, cardiac abnormalities, ectodermal and musculoskeletal anomalies, endocrinopathy, developmental delay, and a predisposition to neoplasia both benign and malignant. In this study, we examined a large, well-characterized cohort of patients with the clinical diagnosis of CS. We sequenced <i>HRAS</i> in 36 unrelated individuals with the clinical diagnosis of CS and three sets of parents and 10 normal controls. We screened for <i>HRAS</i> coding region mutations in an effort to define <i>HRAS</i> mutations in CS and attempt to establish a possible genotype-phenotype correlation. In addition, we sequenced <i>HRAS</i> to establish loss of heterozygosity in a rhabdomyosarcoma and fibrosarcoma from a CS patient. <i>HRAS</i> mutations were identified in 33 out of 36 (92%) patients with the clinical diagnosis of CS. Mutations were found in codon 12 or 13. Two different missense point mutations were identified in codon 12: 34G9A and 35G9C, predicting an amino acid substitution of gly12ser and gly12ala, respectively. The 34G9A transition mutation, the most common mutation observed in this cohort of patients, was found in 30 of 33 patients. Two patients were found to have a codon 12 35G9C transversion. One patient in the cohort had a codon 13 mutation: 37G9T transversion, predicting an amino acid substitution of gly13cys. Parental DNA samples from three CS patients with the 34G9A mutation did not harbor a mutation. <i>HRAS</i> was sequenced from DNA isolated from a rhabdomyosarcoma and fibrosarcoma from a patient who had the germline activating mutation 34GA. Sequence analysis demonstrated LOH of the wild-type allele of <i>HRAS</i> as demonstrated by detection of only 34A in exon 1. Our data show that the majority of Costello syndrome patients have de novo heterogeneous <i>HRAS</i> mutations. Furthermore, tumorigenesis in Costello syndrome patients is accompanied by additional somatic changes affecting the <i>HRAS</i> gene." @default.
• W2394390012 created "2016-06-24" @default.
• W2394390012 creator A5008673335 @default.
• W2394390012 creator A5031602824 @default.
• W2394390012 creator A5045356809 @default.
• W2394390012 creator A5071323770 @default.
• W2394390012 creator A5074330274 @default.
• W2394390012 date "2006-01-01" @default.
• W2394390012 modified "2023-09-23" @default.
• W2394390012 title "123 HRAS MUTATIONS IN COSTELLO SYNDROME: DETECTION OF ACTIVATING MUTATIONS IN CODON 12 AND CODON 13 AND LOSS OF HETEROZYGOSITY IN RHABDOMYOSARCOMA." @default.
• W2394390012 doi "https://doi.org/10.2310/6650.2005.x0004.122" @default.
• W2394390012 hasPublicationYear "2006" @default.
• W2394390012 type Work @default.
• W2394390012 sameAs 2394390012 @default.
• W2394390012 citedByCount "0" @default.
• W2394390012 crossrefType "journal-article" @default.
• W2394390012 hasAuthorship W2394390012A5008673335 @default.
• W2394390012 hasAuthorship W2394390012A5031602824 @default.
• W2394390012 hasAuthorship W2394390012A5045356809 @default.
• W2394390012 hasAuthorship W2394390012A5071323770 @default.
• W2394390012 hasAuthorship W2394390012A5074330274 @default.
• W2394390012 hasConcept C104317684 @default.
• W2394390012 hasConcept C1167327 @default.
• W2394390012 hasConcept C13514818 @default.
• W2394390012 hasConcept C142724271 @default.
• W2394390012 hasConcept C143589142 @default.
• W2394390012 hasConcept C176944494 @default.
• W2394390012 hasConcept C180754005 @default.
• W2394390012 hasConcept C2778256501 @default.
• W2394390012 hasConcept C2779944767 @default.
• W2394390012 hasConcept C2780844630 @default.
• W2394390012 hasConcept C2781187634 @default.
• W2394390012 hasConcept C501734568 @default.
• W2394390012 hasConcept C54355233 @default.
• W2394390012 hasConcept C64872895 @default.
• W2394390012 hasConcept C71924100 @default.
• W2394390012 hasConcept C75563809 @default.
• W2394390012 hasConcept C86803240 @default.
• W2394390012 hasConceptScore W2394390012C104317684 @default.
• W2394390012 hasConceptScore W2394390012C1167327 @default.
• W2394390012 hasConceptScore W2394390012C13514818 @default.
• W2394390012 hasConceptScore W2394390012C142724271 @default.
• W2394390012 hasConceptScore W2394390012C143589142 @default.
• W2394390012 hasConceptScore W2394390012C176944494 @default.
• W2394390012 hasConceptScore W2394390012C180754005 @default.
• W2394390012 hasConceptScore W2394390012C2778256501 @default.
• W2394390012 hasConceptScore W2394390012C2779944767 @default.
• W2394390012 hasConceptScore W2394390012C2780844630 @default.
• W2394390012 hasConceptScore W2394390012C2781187634 @default.
• W2394390012 hasConceptScore W2394390012C501734568 @default.
• W2394390012 hasConceptScore W2394390012C54355233 @default.
• W2394390012 hasConceptScore W2394390012C64872895 @default.
• W2394390012 hasConceptScore W2394390012C71924100 @default.
• W2394390012 hasConceptScore W2394390012C75563809 @default.
• W2394390012 hasConceptScore W2394390012C86803240 @default.
• W2394390012 hasIssue "1" @default.
• W2394390012 hasLocation W23943900121 @default.
• W2394390012 hasOpenAccess W2394390012 @default.
• W2394390012 hasPrimaryLocation W23943900121 @default.
• W2394390012 hasRelatedWork W1624334912 @default.
• W2394390012 hasRelatedWork W1965881002 @default.
• W2394390012 hasRelatedWork W1993062754 @default.
• W2394390012 hasRelatedWork W2020277419 @default.
• W2394390012 hasRelatedWork W2036729517 @default.
• W2394390012 hasRelatedWork W2038772247 @default.
• W2394390012 hasRelatedWork W2158461104 @default.
• W2394390012 hasRelatedWork W2394390012 @default.
• W2394390012 hasRelatedWork W242600280 @default.
• W2394390012 hasRelatedWork W2598042332 @default.
• W2394390012 hasVolume "54" @default.
• W2394390012 isParatext "false" @default.
• W2394390012 isRetracted "false" @default.
• W2394390012 magId "2394390012" @default.
• W2394390012 workType "article" @default.