FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2959658150> ?p ?o ?g. }

• W2959658150 abstract "Osteogenesis imperfecta (OI) is a hereditary bone disorder caused by defects of type I collagen. Although up to 90% of patients harbor pathogenic variants in the COL1A1/2 gene, which codes for collagen α1/2 chains, the spectrum of OI genotypes may differ between populations, and there is academic controversy around OI genotype-phenotype correlations. In the current study, 94 Ukrainian OI families were interviewed. Clinical and genealogical information was collected from patients in spoken form, and their phenotypes were described. To identify the spectrum of collagen I pathogenic variants, COL1A1/2 mutational analysis with Sanger sequencing was performed on the youngest affected individual of every family. Of the 143 patients investigated, 67 (46.85%) had type I OI, 24 (16.78%) had type III, 49 (34.27%) had type IV, and III (2.10%) had type V. The mean number of fractures suffered per patient per year was 1.32 ± 2.88 (type I 0.50 ± 0.43; type III 3.51 ± 6.18; type IV 1.44 ± 1.77; and type 5 0.77 ± 0.23). 87.23% of patients had skeletal deformations of different severity. Blue sclera, dentinogenesis imperfecta, and hearing loss were present in 87%, 55%, and 22% of patients, respectively. COL1A1/2 pathogenic variants were harbored by 60 patients (63.83%). 27 pathogenic variants are described herein for the first time. The majority of the pathogenic variants were located in the COL1A1 gene (76.19%). Half (49.21%) of the pathogenic variants were represented by structural variants. OI phenotype severity was highly correlated with type of collagen I defect. The current article presents an analysis of the clinical manifestations and COL1A1/2 mutational spectrum of 94 Ukrainian OI families with 27 novel COL1A1/2 pathogenic variants. It is hoped that this data and its analysis will contribute toward the increased understanding of the phenotype development and genetics of the disorder." @default.
• W2959658150 created "2019-07-23" @default.
• W2959658150 creator A5004660167 @default.
• W2959658150 creator A5019129023 @default.
• W2959658150 creator A5037656140 @default.
• W2959658150 creator A5056769979 @default.
• W2959658150 creator A5066109851 @default.
• W2959658150 creator A5066964250 @default.
• W2959658150 creator A5073014816 @default.
• W2959658150 creator A5089673525 @default.
• W2959658150 date "2019-08-09" @default.
• W2959658150 modified "2023-10-16" @default.
• W2959658150 title "COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients" @default.
• W2959658150 cites W1703962202 @default.
• W2959658150 cites W1969489801 @default.
• W2959658150 cites W1971491996 @default.
• W2959658150 cites W1980740976 @default.
• W2959658150 cites W1989885963 @default.
• W2959658150 cites W1991453189 @default.
• W2959658150 cites W1994644114 @default.
• W2959658150 cites W1997247267 @default.
• W2959658150 cites W1998462722 @default.
• W2959658150 cites W2012305598 @default.
• W2959658150 cites W2016499348 @default.
• W2959658150 cites W2022607859 @default.
• W2959658150 cites W2044822886 @default.
• W2959658150 cites W2059145105 @default.
• W2959658150 cites W2065766094 @default.
• W2959658150 cites W2069566684 @default.
• W2959658150 cites W2073557556 @default.
• W2959658150 cites W2076357933 @default.
• W2959658150 cites W2079859830 @default.
• W2959658150 cites W2080217467 @default.
• W2959658150 cites W2093400989 @default.
• W2959658150 cites W2094672383 @default.
• W2959658150 cites W2099431176 @default.
• W2959658150 cites W2104549677 @default.
• W2959658150 cites W2122732537 @default.
• W2959658150 cites W2127142170 @default.
• W2959658150 cites W2131950737 @default.
• W2959658150 cites W2136942244 @default.
• W2959658150 cites W2149119743 @default.
• W2959658150 cites W2154974204 @default.
• W2959658150 cites W2156786174 @default.
• W2959658150 cites W2170976321 @default.
• W2959658150 cites W2185966032 @default.
• W2959658150 cites W2332381854 @default.
• W2959658150 cites W2332432997 @default.
• W2959658150 cites W2476133058 @default.
• W2959658150 cites W2476542314 @default.
• W2959658150 cites W2489490822 @default.
• W2959658150 cites W2510163415 @default.
• W2959658150 cites W2548718785 @default.
• W2959658150 cites W2608814069 @default.
• W2959658150 cites W2746394609 @default.
• W2959658150 cites W2793109849 @default.
• W2959658150 cites W2793207827 @default.
• W2959658150 cites W4206477217 @default.
• W2959658150 cites W4251654245 @default.
• W2959658150 cites W4253318439 @default.
• W2959658150 cites W2728540444 @default.
• W2959658150 doi "https://doi.org/10.3389/fgene.2019.00722" @default.
• W2959658150 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6696896" @default.
• W2959658150 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31447884" @default.
• W2959658150 hasPublicationYear "2019" @default.
• W2959658150 type Work @default.
• W2959658150 sameAs 2959658150 @default.
• W2959658150 citedByCount "25" @default.
• W2959658150 countsByYear W29596581502020 @default.
• W2959658150 countsByYear W29596581502021 @default.
• W2959658150 countsByYear W29596581502022 @default.
• W2959658150 countsByYear W29596581502023 @default.
• W2959658150 crossrefType "journal-article" @default.
• W2959658150 hasAuthorship W2959658150A5004660167 @default.
• W2959658150 hasAuthorship W2959658150A5019129023 @default.
• W2959658150 hasAuthorship W2959658150A5037656140 @default.
• W2959658150 hasAuthorship W2959658150A5056769979 @default.
• W2959658150 hasAuthorship W2959658150A5066109851 @default.
• W2959658150 hasAuthorship W2959658150A5066964250 @default.
• W2959658150 hasAuthorship W2959658150A5073014816 @default.
• W2959658150 hasAuthorship W2959658150A5089673525 @default.
• W2959658150 hasBestOaLocation W29596581501 @default.
• W2959658150 hasConcept C104317684 @default.
• W2959658150 hasConcept C126322002 @default.
• W2959658150 hasConcept C127716648 @default.
• W2959658150 hasConcept C135763542 @default.
• W2959658150 hasConcept C142724271 @default.
• W2959658150 hasConcept C2777668750 @default.
• W2959658150 hasConcept C2780644872 @default.
• W2959658150 hasConcept C2781062450 @default.
• W2959658150 hasConcept C501734568 @default.
• W2959658150 hasConcept C54355233 @default.
• W2959658150 hasConcept C71924100 @default.
• W2959658150 hasConcept C76818968 @default.
• W2959658150 hasConcept C86803240 @default.
• W2959658150 hasConceptScore W2959658150C104317684 @default.
• W2959658150 hasConceptScore W2959658150C126322002 @default.
• W2959658150 hasConceptScore W2959658150C127716648 @default.
• W2959658150 hasConceptScore W2959658150C135763542 @default.
• W2959658150 hasConceptScore W2959658150C142724271 @default.

• next