Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
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![Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly](https://www.researchgate.net/publication/353713594/figure/fig5/AS:1053429413724163@1628168552504/Electropherograms-of-EP300-and-PLAU-obtained-using-Sanger-sequencing-Two-heterozygous_Q320.jpg)
Protein-protein interaction network describes the possible interaction
![Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly](https://www.researchgate.net/publication/228067040/figure/fig4/AS:302213156098057@1449064639692/Activation-of-human-or-salmon-plasminogen-by-human-uPA-or-zfuPA-a-or-zfuPA-b-Salmon-or.png)
Activation of human or salmon plasminogen by human uPA or zfuPA-a or
![Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly](https://jmg.bmj.com/content/jmedgenet/44/5/327/F1.large.jpg)
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
![Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly](https://www.researchgate.net/publication/47813157/figure/tbl2/AS:670539064553478@1536880379082/Response-to-immunization-with-the-23-valent-pneumococcal-polysaccha-ride-vaccine_Q320.jpg)
Subclass IgG levels of patients with Rubinstein-Taybi syndrome compared
![Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly](https://www.researchgate.net/publication/322848036/figure/fig4/AS:704809271316486@1545051033401/Zebrafish-ep300-knockdown-models-Rubinstein-Taybi-Syndrome-2-a-d-Bright-field-images.jpg)
Zebrafish ep300 knockdown models Rubinstein Taybi Syndrome-2. (a-d)
![Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fsj.ejhg.5201823/MediaObjects/41431_2007_Article_BF5201823_Fig1_HTML.gif)
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity
![Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly](https://www.researchgate.net/publication/322848036/figure/fig2/AS:704809271316485@1545051033277/Zebrafish-has-two-co-orthologues-of-ep300-a-Phylogenetic-tree-of-ep300-and-cbp-across.png)
Zebrafish has two co-orthologues of ep300. (a) Phylogenetic tree of
![Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly](https://www.researchgate.net/publication/353713594/figure/fig3/AS:1053429413724161@1628168552342/Right-vertebral-artery-angiography-of-the-patient-Anterior-posterior-view-of-the-right_Q320.jpg)
Protein-protein interaction network describes the possible interaction
![Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly](https://upload.wikimedia.org/wikipedia/commons/1/19/Autosomal_recessive_inheritance_for_affected_enzyme.png)
Genetic Disorder: Most Up-to-Date Encyclopedia, News & Reviews
![Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly](https://www.researchgate.net/profile/John-Waye/publication/40685299/figure/fig2/AS:485670268477441@1492804223652/Genotyping-assays-for-the-tandem-duplication-of-PLAU-in-QPD-Panels-compare-data-for_Q320.jpg)
PDF) Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene
![Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly](https://www.researchgate.net/profile/Taher-Nassar/publication/51169605/figure/fig2/AS:601600951332874@1520444252469/Involvement-of-LRP-and-uPA-catalytic-activity-in-uPA-induced-alterations-of-pulmonary.png)
Involvement of LRP and uPA catalytic activity in uPA-induced
![Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly](https://www.researchgate.net/publication/322848036/figure/fig6/AS:704809271316487@1545051033458/Nervous-system-defects-in-the-ep300-morphant-zebrafish-reveals-new-functions-of-ep300.png)
Nervous system defects in the ep300 morphant zebrafish reveals new
![Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly](https://media.springernature.com/m685/springer-static/image/art%3A10.1038%2Fs41439-022-00218-5/MediaObjects/41439_2022_218_Fig1_HTML.png)
Novel missense COL2A1 variant in a fetus with achondrogenesis type II
![Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly](https://media.springernature.com/m685/springer-static/image/art%3A10.1038%2Fejhg.2014.18/MediaObjects/41431_2014_Article_BFejhg201418_Fig1_HTML.jpg)
Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund–Thomson Syndrome sibs with mild phenotype
![Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly](https://www.researchgate.net/publication/349572577/figure/fig2/AS:994975206617100@1614231983863/Comparison-of-CREBBP-expression-level-between-maternal-and-fetal-sides-of-the-placental.png)
Comparison of CREBBP expression level between maternal and fetal sides
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