11 research outputs found

    Brief information regarding the variants that occurred in at least two patients after filtering.

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    <p><sup>1</sup>Chromosomal positions are based on hg19 and dbSNP Build 137;</p><p><sup>2</sup>Functional data are from PubMed searches and the 1000 Genomes Project.</p><p>Brief information regarding the variants that occurred in at least two patients after filtering.</p

    Exome sequencing identified two missense variants of <i>WNK1</i> in POP patients.

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    <p>(A and B) Sanger sequencing chromatograms of the two <i>WNK1</i> mutations. The positions of the mutations are indicated by an arrow. (C) Comparative protein alignment of WNK1 protein in <i>Homo sapiens</i>, <i>Pan paniscus</i>, <i>Macaca mulatta</i>, <i>Rattus norvegicus</i>, <i>Mus musculus</i>, <i>Xenopus</i> and <i>Arabidopsis thaliana</i>. The mutated amino acids were shown in red. (D) DNA sequence chromatograms showing de novo heterozygous mutation of c.2668G > A (p.G890R) in P142. (E) Schematic representation of the human <i>WNK1</i> gene (top) and protein (bottom). WNK1 contains 2,642 amino acids, serine/threonine protein kinases catalytic domain included. The mutated amino acids (*) are highlighted in red.</p

    Fibroblasts from POP patients who carried the c.2668G > A (p.G890R) mutation of <i>WNK1</i> showing irregular alignment.

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    <p>(A) Fibroblasts from utero-sacral ligaments were cultured <i>in vitro</i> for 25 days. Control: healthy individuals; POP: POP cases with a <i>WNK1</i> mutation. (B) Most cells were vimentin positive and cytokeratin negative, which suggests they were fibroblasts.</p

    Overview of exome sequencing data.

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    <p>Overview of exome sequencing data.</p

    Supplemental Material, Supplementary_Information - The Relationship of Circular RNAs With Ovarian Endometriosis

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    <p> Supplemental Material, Supplementary_Information for The Relationship of Circular RNAs With Ovarian Endometriosis by Xiaoxuan Xu, Shuang-zheng Jia, Yi Dai, Jun-ji Zhang, Xiaoyan Li, Jinghua Shi, Jinhua Leng and Jinghe Lang in Reproductive Sciences </p

    Features of venous thromboembolism (VTE) in ovarian clear cell carcinoma.

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    <p>Abbreviations: VTE, venous thromboembolism; DVT, deep vein thrombosis; PE, pulmonary embolism.</p><p>Features of venous thromboembolism (VTE) in ovarian clear cell carcinoma.</p

    Kaplan-Meier survival curves of venous thromboembolism (VTE) in ovarian CCC.

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    <p>(a). Overall survival analyzed for cases with or without VTE. (b). Progression-free survival analyzed for cases with or without VTE. (c) Overall survival analysis based on timing of VTE. (d) Progression-free survival analysis based on the timing of the VTE.</p

    Pulmonary emboli in both pulmonary arteries, as demonstrated by autopsy in a patient who died of pulmonary embolism.

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    <p>Please refer to the main text for the details of the case. Fig. 1a macroscopic thrombus (arrows); Fig. 1b a 20-cm long thrombus; Fig. 1c microscopic thrombus (arrows), hematoxylin and eosin stain, magnification X100.</p

    Clinicopathological features of ovarian CCC patients with or without VTE.

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    <p>*Chi-square test and parametric student <i>t</i> test.</p><p>Abbreviations: CCC, clear cell carcinoma; SD, standard deviation; VTE, venous thromboembolism; CA 125, cancer antigen 125.</p><p>Clinicopathological features of ovarian CCC patients with or without VTE.</p
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