FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2065067440> ?p ?o ?g. }

• W2065067440 abstract "Abstract Background Classic Ehlers–Danlos syndrome (cEDS) is a rare autosomal dominant connective tissue disorder that is primarily characterized by skin hyperextensibility, abnormal wound healing/atrophic scars, and joint hypermobility. A recent study demonstrated that more than 90% of patients who satisfy all of these major criteria harbor a type V collagen (COLLV) defect. Methods This cohort included 40 patients with cEDS who were clinically diagnosed according to the Villefranche nosology. The flowchart that was adopted for mutation detection consisted of sequencing the COL5A1 gene and, if no mutation was detected, COL5A2 analysis. In the negative patients the presence of large genomic rearrangements in COL5A1 was investigated using MLPA, and positive results were confirmed via SNP-array analysis. Results We report the clinical and molecular characterization of 40 patients from 28 families, consisting of 14 pediatric patients and 26 adults. A family history of cEDS was present in 9 patients. The majority of the patients fulfilled all the major diagnostic criteria for cEDS; atrophic scars were absent in 2 females, skin hyperextensibility was not detected in a male and joint hypermobility was negative in 8 patients (20% of the entire cohort). Wide inter- and intra-familial phenotypic heterogeneity was observed. We identified causal mutations with a detection rate of approximately 93%. In 25/28 probands, COL5A1 or COL5A2 mutations were detected. Twenty-one mutations were in the COL5A1 gene, 18 of which were novel (2 recurrent). Of these, 16 mutations led to nonsense-mediated mRNA decay (NMD) and to COLLV haploinsufficiency and 5 mutations were structural. Two novel COL5A2 splice mutations were detected in patients with the most severe phenotypes. The known p. (Arg312Cys) mutation in the COL1A1 gene was identified in one patient with vascular-like cEDS. Conclusions Our findings highlight that the three major criteria for cEDS are useful and sufficient for cEDS clinical diagnosis in the large majority of the patients. The borderline patients for whom these criteria fail can be diagnosed when minor signs of connective tissue diseases and family history are present and when genetic testing reveals a defect in COLLV. Our data also confirm that COL5A1 and COL5A2 are the major, if not the only, genes involved in cEDS." @default.
• W2065067440 created "2016-06-24" @default.
• W2065067440 creator A5000605287 @default.
• W2065067440 creator A5009691994 @default.
• W2065067440 creator A5021611638 @default.
• W2065067440 creator A5025841962 @default.
• W2065067440 creator A5028289542 @default.
• W2065067440 creator A5034720131 @default.
• W2065067440 creator A5040570721 @default.
• W2065067440 creator A5046311989 @default.
• W2065067440 creator A5050405045 @default.
• W2065067440 creator A5051661928 @default.
• W2065067440 creator A5061153719 @default.
• W2065067440 creator A5061835780 @default.
• W2065067440 creator A5070455529 @default.
• W2065067440 date "2013-04-12" @default.
• W2065067440 modified "2023-09-27" @default.
• W2065067440 title "Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations" @default.
• W2065067440 cites W1965371993 @default.
• W2065067440 cites W1966946871 @default.
• W2065067440 cites W1970361523 @default.
• W2065067440 cites W1984751116 @default.
• W2065067440 cites W1988350308 @default.
• W2065067440 cites W1990296919 @default.
• W2065067440 cites W1992392486 @default.
• W2065067440 cites W1995954566 @default.
• W2065067440 cites W1996526464 @default.
• W2065067440 cites W2006161202 @default.
• W2065067440 cites W2025759554 @default.
• W2065067440 cites W2028230009 @default.
• W2065067440 cites W2028855691 @default.
• W2065067440 cites W2041857716 @default.
• W2065067440 cites W2046338893 @default.
• W2065067440 cites W2049210107 @default.
• W2065067440 cites W2052884235 @default.
• W2065067440 cites W2056409364 @default.
• W2065067440 cites W2058940571 @default.
• W2065067440 cites W2062883987 @default.
• W2065067440 cites W2074619878 @default.
• W2065067440 cites W2077989922 @default.
• W2065067440 cites W2078598178 @default.
• W2065067440 cites W2082154271 @default.
• W2065067440 cites W2088738667 @default.
• W2065067440 cites W2092877017 @default.
• W2065067440 cites W2103775145 @default.
• W2065067440 cites W2106759505 @default.
• W2065067440 cites W2108411344 @default.
• W2065067440 cites W2112480941 @default.
• W2065067440 cites W2119175312 @default.
• W2065067440 cites W2119272448 @default.
• W2065067440 cites W2138298557 @default.
• W2065067440 cites W2142112026 @default.
• W2065067440 cites W2153707891 @default.
• W2065067440 cites W2156786174 @default.
• W2065067440 doi "https://doi.org/10.1186/1750-1172-8-58" @default.
• W2065067440 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3653713" @default.
• W2065067440 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23587214" @default.
• W2065067440 hasPublicationYear "2013" @default.
• W2065067440 type Work @default.
• W2065067440 sameAs 2065067440 @default.
• W2065067440 citedByCount "99" @default.
• W2065067440 countsByYear W20650674402014 @default.
• W2065067440 countsByYear W20650674402015 @default.
• W2065067440 countsByYear W20650674402016 @default.
• W2065067440 countsByYear W20650674402017 @default.
• W2065067440 countsByYear W20650674402018 @default.
• W2065067440 countsByYear W20650674402019 @default.
• W2065067440 countsByYear W20650674402020 @default.
• W2065067440 countsByYear W20650674402021 @default.
• W2065067440 countsByYear W20650674402022 @default.
• W2065067440 countsByYear W20650674402023 @default.
• W2065067440 crossrefType "journal-article" @default.
• W2065067440 hasAuthorship W2065067440A5000605287 @default.
• W2065067440 hasAuthorship W2065067440A5009691994 @default.
• W2065067440 hasAuthorship W2065067440A5021611638 @default.
• W2065067440 hasAuthorship W2065067440A5025841962 @default.
• W2065067440 hasAuthorship W2065067440A5028289542 @default.
• W2065067440 hasAuthorship W2065067440A5034720131 @default.
• W2065067440 hasAuthorship W2065067440A5040570721 @default.
• W2065067440 hasAuthorship W2065067440A5046311989 @default.
• W2065067440 hasAuthorship W2065067440A5050405045 @default.
• W2065067440 hasAuthorship W2065067440A5051661928 @default.
• W2065067440 hasAuthorship W2065067440A5061153719 @default.
• W2065067440 hasAuthorship W2065067440A5061835780 @default.
• W2065067440 hasAuthorship W2065067440A5070455529 @default.
• W2065067440 hasBestOaLocation W20650674401 @default.
• W2065067440 hasConcept C105702510 @default.
• W2065067440 hasConcept C126322002 @default.
• W2065067440 hasConcept C142724271 @default.
• W2065067440 hasConcept C16005928 @default.
• W2065067440 hasConcept C2777642821 @default.
• W2065067440 hasConcept C2778333328 @default.
• W2065067440 hasConcept C2781191397 @default.
• W2065067440 hasConcept C2910325231 @default.
• W2065067440 hasConcept C54355233 @default.
• W2065067440 hasConcept C71924100 @default.
• W2065067440 hasConcept C72563966 @default.
• W2065067440 hasConcept C86803240 @default.
• W2065067440 hasConceptScore W2065067440C105702510 @default.
• W2065067440 hasConceptScore W2065067440C126322002 @default.

• next