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Journal articles on the topic 'PVRL1'

Author: Grafiati
Published: 9 September 2021
Last updated: 7 February 2022

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1

Hayashi, Ryota, Masaaki Ito, and Yutaka Shimomura. "PVRL1 and PVRL4 , of which mutations cause ectodermal dysplasia syndromes, are potential direct target genes of p63." Journal of Dermatological Science 84, no. 1 (2016): e56. http://dx.doi.org/10.1016/j.jdermsci.2016.08.173.

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2

Tovani Palone, Marcos Roberto, and Vivian Patricia Saldias Vargas. "Factores genéticos y fisuras orofaciales no sindrómicas." Revista de la Facultad de Medicina 64, no. 2 (2016): 381. http://dx.doi.org/10.15446/revfacmed.v64n2.53551.

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<p>Las fisuras orofaciales son un grupo de anomalías cuya etiología es resultante de la interacción entre factores genéticos y ambientales. Entre todos los genes candidatos para la ocurrencia de fisuras orofaciales no sindrómicas, el más citado y conocido es el IRF6; otros genes importantes son el FOXE1, PVRL1 y el MSX1. A partir de nuevos datos consolidados referentes a esta etiología, se puede establecer un sistema más efectivo de orientación genética para prevenir la ocurrencia de estos tipos de anomalías. Abstract Orofacial clefts are a group of anomalies whose etiology derives from the interaction between genetic and environmental factors. Among all candidate genes for the occurrence of nonsyndromic orofacial clefts, IRF6 is the most quoted and known. Other important genes are FOXE1, PVRL1 and MSX1. Thus, from new consolidated data for this etiology a more effective system of genetic counseling can be established to prevent the occurrence of these types of anomalies.</p>
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Peng, Hua, and Yang-Xin Fu. "The Inhibitory PVRL1/PVR/TIGIT Axis in Immune Therapy for Hepatocellular Carcinoma." Gastroenterology 159, no. 2 (2020): 434–36. http://dx.doi.org/10.1053/j.gastro.2020.06.024.

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4

Avila, Joseph R., Peter A. Jezewski, Alexandre R. Vieira, et al. "PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations." American Journal of Medical Genetics Part A 140A, no. 23 (2006): 2562–70. http://dx.doi.org/10.1002/ajmg.a.31367.

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5

Sözen, Mehmet A., Jacqueline T. Hecht, and Richard A. Spritz. "Mutation Analysis of the PVRL1 Gene in Caucasians with Nonsyndromic Cleft Lip/Palate." Genetic Testing and Molecular Biomarkers 13, no. 5 (2009): 617–21. http://dx.doi.org/10.1089/gtmb.2009.0052.

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Sözen, Mehmet A., Koji Suzuki, Marie M. Tolarova, Tania Bustos, Jesús E. Fernández Iglesias, and Richard A. Spritz. "Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela." Nature Genetics 29, no. 2 (2001): 141–42. http://dx.doi.org/10.1038/ng740.

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7

Tseng, Y. T., H. H. Hsiao, H. P. Hsiao, W. C. Tsai, and H. H. Chiu. "A study of PVRL1 mutations for non-syndromic cleft lip and/or palate among Taiwanese patients." International Journal of Oral and Maxillofacial Surgery 35, no. 5 (2006): 453–55. http://dx.doi.org/10.1016/j.ijom.2006.01.007.

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8

Scapoli, L., A. Palmieri, M. Martinelli, et al. "Study of the PVRL1 Gene in Italian Nonsyndromic Cleft Lip Patients with or without Cleft Palate." Annals of Human Genetics 70, no. 3 (2008): 410–13. http://dx.doi.org/10.1111/j.1529-8817.2005.00237.x.

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9

Suzuki, Koji, Diane Hu, Tania Bustos, et al. "Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia." Nature Genetics 25, no. 4 (2000): 427–30. http://dx.doi.org/10.1038/78119.

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10

Shu, S. Y., M. J. Zhang, H. Q. Cheng, et al. "Mutation analysis of PVRL1 in patients with non-syndromic cleft of the lip and/or palate in Guangdong." Genetics and Molecular Research 14, no. 2 (2015): 3400–3408. http://dx.doi.org/10.4238/2015.april.15.3.

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11

Oner, Deniz Aslar, and Hakki Tastan. "Identification of Novel Variants in the PVRL1 Gene in Patients With Nonsyndromic Cleft Lip With or Without Cleft Palate." Genetic Testing and Molecular Biomarkers 20, no. 5 (2016): 269–72. http://dx.doi.org/10.1089/gtmb.2015.0276.

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12

Aşlar, Deniz, and Hakkı Taştan. "Novel insertion mutation in the PVRL1 gene in Turkish patients with non-syndromic cleft lip with/without cleft palate." Archives of Oral Biology 59, no. 3 (2014): 237–40. http://dx.doi.org/10.1016/j.archoralbio.2013.11.016.

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13

David, Dezső, Deepti Anand, Carlos Araújo, et al. "Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by Peters anomaly type 2 and ectopia lentis." Experimental Eye Research 168 (March 2018): 161–70. http://dx.doi.org/10.1016/j.exer.2017.12.012.

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14

Jakobsen, Linda P., Mary A. Knudsen, James Lespinasse, et al. "The Genetic Basis of the Pierre Robin Sequence." Cleft Palate-Craniofacial Journal 43, no. 2 (2006): 155–59. http://dx.doi.org/10.1597/05-008.1.

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Objective The Pierre Robin Sequence (PRS) is subgroup of the cleft palate population. As with the etiology of cleft lip or palate, the etiology of PRS is generally unknown. Some factors are suggestive of a genetic basis for PRS. The purpose of this study was to compare genetic information on PRS available in the literature and in a cytogenetic database to facilitate focused genetic studies of PRS. Design After searching Medline for “pierre robin and genetics,” the Mendelian Cytogenetics Network database for “robin” and “pierre robin,” and two reviews from the Human Cytogenetics Database for “cleft palate” and “micrognathia,” a comparison of the data and a search in Online Mendelian Inheritance in Man (OMIM) Gene Map was performed to identify relevant candidate genes. Results The findings revealed consistency to a certain degree to loci 2q24.1-33.3, 4q32-qter, 11q21-23.1, and 17q21-24.3. A search in the OMIM Gene Map provided many candidate genes for PRS in these regions. The GAD67 on 2q31, the PVRL1 on 11q23-q24, and the SOX9 gene on 17q24.3-q25.1 are suggested to be of particular importance. Conclusion Candidate loci and a few potential candidate genes for PRS are proposed from the present study. This may enable researchers to focus their effort in the studies of PRS.
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15

Amano, K., M. Ishiguchi, T. Aikawa, et al. "Cleft Lip in Oculodentodigital Dysplasia Suggests Novel Roles for Connexin43." Journal of Dental Research 91, no. 7_suppl (2012): S38—S44. http://dx.doi.org/10.1177/0022034512447952.

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Oculodentodigital Dysplasia (ODDD) is a rare syndrome involving anomalies in eye, tooth, and digit formation, caused by mutations in CX43/ GJA1. In addition to classic dental features, ODDD includes oral and craniofacial accessory symptoms such as characteristic facial appearance and cleft palate. However, there have been no reports of ODDD accompanied by cleft lip. Herein we report, for the first time, a male, sporadic, Asian proband presenting bilateral cleft lip. By direct sequence analysis, our proband was diagnosed as having ODDD with a heterozygous mutation, codon 142 G>A in GJA1 and CX43E48K. We excluded the possibility of pathogenic mutations in B3GALTL, BMP4, TFAP2A, PVRL1, IRF6, and MSX1. To address how CX43/ GJA1 is related to cleft lip, we performed immunohistochemistry using mouse and human mid-facial tissue. CX43 expression was detected in the nasal compartment and nasal and maxillary processes at murine developmental stage E12.5. Furthermore, CX43 expression was found in the epithelial tissue inside the human subepithelial cleft lip that completes epithelial fusion. Therefore, we suggest that CX43/ GJA1 is involved in lip formation. Our case report of ODDD with a bilateral cleft lip suggests that CX43/ GJA1 might be a novel candidate gene for syndromic cleft lip.
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16

Wang, Jing, Peng-Fei Kong, Hai-Yun Wang, et al. "Identification of a Gene-Related Risk Signature in Melanoma Patients Using Bioinformatic Profiling." Journal of Oncology 2020 (April 29, 2020): 1–13. http://dx.doi.org/10.1155/2020/7526204.

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Introduction. Gene signature has been used to predict prognosis in melanoma patients. Meanwhile, the efficacy of immunotherapy was correlated with particular genes expression or mutation. In this study, we systematically explored the gene expression pattern in the melanoma-immune microenvironment and its relationship with prognosis. Methods. A cohort of 122 melanoma cases with whole-genome microarray expression data were enrolled from the Gene Expression Omnibus (GEO) database. The findings were validated using The Cancer Genome Atlas (TCGA) database. A principal component analysis (PCA), gene set enrichment analysis (GSEA), and gene oncology (GO) analysis were performed to explore the bioinformatic implications. Results. Different gene expression patterns were identified according to the clinical stage. All eligible gene sets were analyzed, and the 8 genes (GPR87, KIT, SH3GL3, PVRL1, ATP1B1, CDAN1, FAU, and TNFSF14) with the greatest prognostic impact on melanoma. A gene-related risk signature was developed to distinguish patients with a high or low risk of an unfavorable outcome, and this signature was validated using the TCGA database. Furthermore, the prognostic significance of the signature between the classified subgroups was verified as an independent prognostic predictor of melanoma. Additionally, the low-risk melanoma patients presented an enhanced immune phenotype compared to that of the high-risk gene signature patients. Conclusions. The gene pattern differences in melanoma were profiled, and a gene signature that could independently predict melanoma patients with a high risk of poor survival was established, highlighting the relationship between prognosis and the local immune response.
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17

Chiu, David Kung-Chun, Vincent Wai-Hin Yuen, Jacinth Wing-Sum Cheu, et al. "Hepatocellular Carcinoma Cells Up-regulate PVRL1, Stabilizing PVR and Inhibiting the Cytotoxic T-Cell Response via TIGIT to Mediate Tumor Resistance to PD1 Inhibitors in Mice." Gastroenterology 159, no. 2 (2020): 609–23. http://dx.doi.org/10.1053/j.gastro.2020.03.074.

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18

Zhang, Qiang, Yuanyi Yue, Bei Shi, and Zhengwei Yuan. "A Bibliometric Analysis of Cleft Lip and Palate-Related Publication Trends From 2000 to 2017." Cleft Palate-Craniofacial Journal 56, no. 5 (2018): 658–69. http://dx.doi.org/10.1177/1055665618807822.

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Objective: Cleft lip and palate (CLP) is the most common human cranial and maxillofacial birth defect. The aim of this bibliometric analysis was to provide an overview of the development of CLP-related research. Method: Cleft lip and palate-related studies published from 2000 to 2017 were retrieved from the Science Citation Index Expanded core database. Publication date, journal, authors, first authors, keywords, and citations were extracted and quantitatively analyzed using Bibliographic Item Co-Occurrence Matrix Builder software. The word matrix and co-occurrence matrix were established, and the co-citation analysis, keyword clustering, and social network analysis (SNA) of highly cited papers were completed. Results: A total of 9040 articles were retrieved from the 18 years of publications that were searched. The number of documents steadily increased over the period of interest, with a slight decrease in 2016 and 2017. This article separately examined the top most cited papers and high-frequency keywords from 3 time periods: 2000 to 2005, 2006 to 2011, and 2011 to 2017. The strategy coordinates of citation reflect TGF-β3, MSX1 gene, technique for cleft lip repair, TTF2, P63, IRF6 gene, FGF signaling, PVRL1, TGFBR2, and BMP4 gene as areas of research interest in the field. Moreover, the SNA of keywords highlighted new research topics: meta-analysis, cone beam computed tomography, tooth agenesis, case–control study, association study, micrognathia, DiGeorge syndrome, NSCL/P, UCLP, GWAS, MTHFR, and CLPTM1L. Conclusion: We conducted bibliometric research of CLP across an 18-year span. The results help to define an overall command of the latest topics in CLP and provide insight for launching new projects.
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Neela, PraveenKumar, SrinivasReddy Gosla, Akhter Husain, Vasavi Mohan, Sravya Thumoju, and BV Rajeshwari. "Association of nucleotide variants of GRHL3, IRF6, NAT2, SDC2, BCL3, and PVRL1 genes with nonsyndromic cleft lip with/without cleft palate in multigenerational families: A retrospective study." Contemporary Clinical Dentistry 12, no. 2 (2021): 138. http://dx.doi.org/10.4103/ccd.ccd_329_20.

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20

Cheng, Hong-Qiu, En-Min Huang, Ming-Yan Xu, Shen-You Shu, and Shi-Jie Tang. "PVRL1 as a Candidate Gene for Nonsyndromic Cleft Lip With or Without Cleft Palate: No Evidence for the Involvement of Common or Rare Variants in Southern Han Chinese Patients." DNA and Cell Biology 31, no. 7 (2012): 1321–27. http://dx.doi.org/10.1089/dna.2011.1556.

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21

Bresson-Bepoldin, L., MC Jacquot, W. Schlegel, and SR Rawlings. "Multiple splice variants of the pituitary adenylate cyclase-activating polypeptide type 1 receptor detected by RT-PCR in single rat pituitary cells." Journal of Molecular Endocrinology 21, no. 2 (1998): 109–20. http://dx.doi.org/10.1677/jme.0.0210109.

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Alternative splicing of the rat type 1 pituitary adenylate cyclase-activating polypeptide (PACAP) receptor (PVR1) produces variants that couple either to both adenylyl cyclase (AC) and phospholipase C (PLC) (PVR1 short, PVR1 hop, PVR1 hiphop), or to AC alone (PVR1 hip). We have previously shown that populations of clonal alphaT3-1 gonadotrophs express PVR1 hop and PVR1 short mRNAs, whereas clonal GH4C1 somatotrophs do not. Here we have used the single cell RT-PCR technique to investigate whether normal rat gonadotrophs and somatotrophs express PVR1 mRNA, whether a single cell co-expresses multiple splice variant forms, and whether differential PVR1 mRNA expression correlates with differences in PACAP-stimulated Ca2+ signalling. We found that individual rat gonadotrophs expressed mRNA either for PVR1 hop, for PVR1 short, or co-expressed the two forms. Although we found no differences between the splice variant(s) expressed and the characteristics of PACAP-stimulated Ca2+ responses, the expression of PVR1 mRNA is consistent with the known PACAP stimulation of the PLC system in gonadotrophs. Individual rat somatotrophs also expressed PVR1 hop or PVR1 short (but not PVR1 hip) mRNAs although these forms were never co-expressed. The expression of PVR1 mRNA in somatotrophs can explain in part the activation by PACAP of the AC system in such cells. In conclusion, the single cell RT-PCR technique was used to demonstrate expression of multiple PVR1 splice variants in single identified pituitary cells. These findings open up important questions on the role of alternative splicing in cell biology.
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LaFrance, Michelle E., Melissa A. Farrow, Ramyavardhanee Chandrasekaran, Jinsong Sheng, Donald H. Rubin, and D. Borden Lacy. "Identification of an epithelial cell receptor responsible forClostridium difficileTcdB-induced cytotoxicity." Proceedings of the National Academy of Sciences 112, no. 22 (2015): 7073–78. http://dx.doi.org/10.1073/pnas.1500791112.

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Clostridium difficileis the leading cause of hospital-acquired diarrhea in the United States. The two main virulence factors ofC. difficileare the large toxins, TcdA and TcdB, which enter colonic epithelial cells and cause fluid secretion, inflammation, and cell death. Using a gene-trap insertional mutagenesis screen, we identified poliovirus receptor-like 3 (PVRL3) as a cellular factor necessary for TcdB-mediated cytotoxicity. Disruption of PVRL3 expression by gene-trap mutagenesis, shRNA, or CRISPR/Cas9 mutagenesis resulted in resistance of cells to TcdB. Complementation of the gene-trap or CRISPR mutants with PVRL3 resulted in restoration of TcdB-mediated cell death. Purified PVRL3 ectodomain bound to TcdB by pull-down. Pretreatment of cells with a monoclonal antibody against PVRL3 or prebinding TcdB to PVRL3 ectodomain also inhibited cytotoxicity in cell culture. The receptor is highly expressed on the surface epithelium of the human colon and was observed to colocalize with TcdB in both an explant model and in tissue from a patient with pseudomembranous colitis. These data suggest PVRL3 is a physiologically relevant binding partner that can serve as a target for the prevention of TcdB-induced cytotoxicity inC. difficileinfection.
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Stamm, Hauke, Felix Klingler, Daniela Pende, et al. "Expression of Novel Immune Checkpoint Molecules PVR and PVRL2 Confers a Negative Prognosis to Patients with Acute Myeloid Leukemia and Their Blockade Augments T-Cell Mediated Lysis of AML Cells Alone or in Combination with the BiTE® Antibody Construct AMG 330." Blood 126, no. 23 (2015): 789. http://dx.doi.org/10.1182/blood.v126.23.789.789.

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Abstract Background: T-cell activity is regulated by immune checkpoints to maintain the sensitive balance of co-stimulatory and inhibitory immune signals. Therapeutic blockade of checkpoint molecules on tumor or T cells such as CTLA-4 or PD-L1 has shown clinical success in several tumor types including Hodgkin´s disease. Furthermore, Blinatumomab, a bispecific T-cell engager (BiTE antibody construct) directing cytotoxic T cells to CD19 positive leukemic cells has been approved for treatment of acute lymphoblastic leukemia. The CD33 specific BiTE antibody construct AMG 330 has been developed for the therapy of acute myeloid leukemia (AML) and will be evaluated in phase I studies shortly. In our current study, we investigated the therapeutic utility of blockade of the novel checkpoint proteins PVR (poliovirus receptor) and PVRL2 (poliovirus receptor-related 2) alone and in combination with AMG 330 in AML. Methods and results: Samples from 140 treatment naive patients with newly diagnosed AML (AMLSG 07-04, NCT00151242) were analyzed by RT-qPCR for expression of the immune checkpoint molecules PVR, PVRL2 and Galectin-9 (Gal-9). Expression was correlated with patient demographics (age, karyotype, FLT3 mutation status) and clinical survival data by multivariate cox regression. The majority of patients showed mRNA expression of PVR (94%), PVRL2 (95%) and Gal-9 (92%). In a multivariate stepwise cox regression for overall survival, an unfavorable karyotype, high PVR and high Gal-9 expression were identified as independent prognostic markers (p<0.001, HR: 2.10, CI 1.39-3.15 for the karyotype; p=0.001, HR: 1.64, CI 1.21-2.21 for PVR and p<0.001, HR: 0.67, CI 0.54-0.84 for Gal-9). Due to a high correlation between PVR and PVRL2 (Pearson's rho=0.827, p<0.001), PVRL2 was removed during the stepwise process. Nevertheless, if PVR was excluded from the multivariate cox regression, PVRL2 remained as significant term in the stepwise procedure in addition to the karyotype and Gal-9 (p=0.003, HR: 1.58, CI 1.17-2.13 for PVRL2). In a second, independent patient cohort containing microarray-based gene expression and clinical data of 291 AML patients (Verhaak et.al., Haematologica 2009;94) a high PVR and PVRL2 expression in contrast to expression of CD80, CD86 or PD-L1 was associated with poor overall survival (log-rank test p=0.003 and p=0.032, respectively). In in vitro killing assays the therapeutic effect of PVR and PVRL2 blockade was studied by FACS using 7-AAD staining. AML cell lines MV4-11, Kasumi-1 and Molm-13 were preincubated with blocking antibodies against PVR, PVRL2 or both and co-cultured for 24h with peripheral blood mononuclear cells (PBMCs) of healthy donors in the presence or absence of AMG 330. In the absence of AMG 330, the cell kill of MV4-11 increased from 12.6±4.7% (control) to 33.0±8.8% (PVR), to 40.4±10.4% (PVRL2) and to 56.0±12.0% (both PVR + PVRL2). In the presence of suboptimal concentration of AMG 330 (0.1 ng/ml) MV4-11 cell lysis was 29.4±9.0% (AMG 330 alone), 49.7±12.6% (AMG 330 + PVR), 57.9±11.3% (AMG 330 + PVRL2) and 70.0±9.8% (AMG 330 + PVR + PVRL2; n=4, p<0.05 for all comparisons). Comparable results were found for Kasumi-1 and Molm-13 with blockade of both checkpoint inhibitors being the most effective treatment, although additive effects of antibodies against PVR and PVRL2 could not be verified in all cases (data not shown). To confirm specificity of the approach and to exclude effects caused by antibody dependent cellular cytotoxicity (ADCC), PVR and PVRL2 double knockouts of the cell line MV4-11 were generated by CRISPR/Cas-9. Significantly increased killing was observed in PVR and PVRL2 double knockout cells compared to wild-type cells (40.5±8.1 % vs. 25.9±9.1; n=3, p<0.001). Further experiments using an irrelevant antibody against CD117 or Fcγ receptor blockade by purified IgG antibodies excluded ADCC confirming the functional relevance of PVR/PVRL2 blockade. Conclusion: The expression of immune checkpoint ligands PVR and PVRL2 confers a negative prognosis to AML patients possibly due to immune evasion. We could further show that the killing of AML cells by PBMCs could be augmented by blockade of these novel checkpoint inhibitors. Furthermore, addition of PVR and/or PVRL2 blocking antibodies to AMG 330 could enhance cytotoxicity. Therefore, blockade of PVR and PVRL2 represents a promising target for the treatment of AML. Disclosures Kischel: Amgen Research (Munich) GmbH: Employment. Stienen:Amgen Research (Munich) GmbH: Employment. Friedrich:Amgen Research (Munich) GmbH: Employment. Lutteropp:Amgen Research (Munich) GmbH: Employment. Nagorsen:Amgen: Employment, Equity Ownership, Patents & Royalties: Inventor on blinatumomab-related patent.
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Belhouachi, Nabila, Aliki Xochelli, Myriam Boudjoghra, et al. "Primary vitreoretinal lymphomas display a remarkably restricted immunoglobulin gene repertoire." Blood Advances 4, no. 7 (2020): 1357–66. http://dx.doi.org/10.1182/bloodadvances.2019000980.

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Abstract Primary vitreoretinal lymphoma (PVRL) is a high-grade lymphoma affecting the vitreous and/or the retina. The vast majority of cases are histopathologically classified as diffuse large B-cell lymphoma (DLBCL) and considered a subtype of primary central nervous system lymphoma (PCNSL). To obtain more insight into the ontogenetic relationship between PVRL and PCNSL, we adopted an immunogenetic perspective and explored the respective immunoglobulin gene repertoire profiles from 55 PVRL cases and 48 PCNSL cases. In addition, considering that both entities are predominantly related to activated B-cell (ABC) DLBCL, we compared their repertoire with that of publicly available 262 immunoglobulin heavy variable domain gene rearrangement sequences from systemic ABC-type DLBCLs. PVRL displayed a strikingly biased repertoire, with the IGHV4-34 gene being used in 63.6% of cases, which was significantly higher than in PCNSL (34.7%) or in DLBCL (30.2%). Further repertoire bias was evident by (1) restricted associations of IGHV4-34 expressing heavy chains, with κ light chains utilizing the IGKV3-20/IGKJ1 gene pair, including 5 cases with quasi-identical sequences, and (2) the presence of a subset of stereotyped IGHV3-7 rearrangements. All PVRL IGHV sequences were highly mutated, with evidence of antigen selection and ongoing mutations. Finally, half of PVRL and PCNSL cases carried the MYD88 L265P mutation, which was present in all 4 PVRL cases with stereotyped IGHV3-7 rearrangements. In conclusion, the massive bias in the immunoglobulin gene repertoire of PVRL delineates it from PCNSL and points to antigen selection as a major driving force in their development.
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Barry, Robert J., Anastasia Tasiopoulou, Philip I. Murray, et al. "Characteristic optical coherence tomography findings in patients with primary vitreoretinal lymphoma: a novel aid to early diagnosis." British Journal of Ophthalmology 102, no. 10 (2018): 1362–66. http://dx.doi.org/10.1136/bjophthalmol-2017-311612.

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BackgroundThe diagnosis of primary vitreoretinal lymphoma (PVRL) poses significant difficulties; presenting features are non-specific and confirmation usually necessitates invasive vitreoretinal biopsy. Diagnosis is often delayed, resulting in increased morbidity and mortality. Non-invasive imaging modalities such as spectral domain optical coherence tomography (SD-OCT) offer simple and rapid aids to diagnosis. We present characteristic SD-OCT images of patients with biopsy-positive PVRL and propose a number of typical features, which we believe are useful in identifying these lesions at an early stage.MethodsMedical records of all patients attending Moorfields Eye Hospital between April 2010 and April 2016 with biopsy-positive PVRL were reviewed. Pretreatment SD-OCT images were collected for all eyes and were reviewed independently by two researchers for features suggestive of PVRL.ResultsPretreatment SD-OCT images of 32 eyes of 22 patients with biopsy-proven PVRL were reviewed. Observed features included hyper-reflective subretinal infiltrates (17/32), hyper-reflective infiltration in inner retinal layers (6/32), retinal pigment epithelium (RPE) undulation (5/32), clumps of vitreous cells (5/32) and sub-RPE deposits (3/32). Of these, the hyper-reflective subretinal infiltrates have an appearance unique to PVRL, with features not seen in other diseases.ConclusionWe have identified a range of SD-OCT features, which we believe to be consistent with a diagnosis of PVRL. We propose that the observation of hyper-reflective subretinal infiltrates as described is highly suggestive of PVRL. This case series further demonstrates the utility of SD-OCT as a non-invasive and rapid aid to diagnosis, which may improve both visual outcomes and survival of patients with intraocular malignancies such as PVRL.
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Tsubota, Kinya, Yoshihiko Usui, and Hiroshi Goto. "Identification of Prognostic Markers in Patients with Primary Vitreoretinal Lymphoma by Clustering Analysis Using Clinical Data." Journal of Clinical Medicine 9, no. 7 (2020): 2298. http://dx.doi.org/10.3390/jcm9072298.

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(1) Purpose: Primary vitreoretinal lymphoma (PVRL) is associated with poor prognosis because most of the patients with PVRL develop central nerve system lymphoma. The prognostic biomarker of PVRL is largely unknown. Cluster analysis has been used to identify phenotypic groups within various diseases. In this study, we aimed to describe clinical features of patients with PVRL grouped by clustering analysis and to identify biomarkers for predicting survival prognosis in patients with PVRL. (2) Materials and Methods: Forty patients with PVRL were divided into two groups by clustering analysis using clinical data. Clinical features of the two groups were compared. (3) Result: Clustering analysis classified patients into groups A and B. The survival rate during the follow-up period was significantly lower in group B than in group A (p = 0.03). Serum IgG, serum IgA, vitreous IL-10 and vitreous IL-10 to IL-6 ratio were significantly different between groups A and B (p = 0.03, 0.005, 0.008 and 0.03, respectively). Receiver operating characteristic (ROC) curves generated for the four variables indicated that serum IgA was most suitable for the prediction of prognosis. Patients with serum IgA below 184 mg/dL obtained from the ROC curve had a lower three-year survival rate (p = 0.03) and more episodes of recurrence of lymphoma (3.2 times versus 1.8 times, p = 0.02) compared with patients with serum IgA above 184 mg/dL. (4) Conclusion: The survival rate was significantly different in PVRL patients classified into two groups by clustering analysis. Patients with lower serum IgA had more recurrences and poorer survival than patients with higher IgA.
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Almire, Carole, Philippe Ruminy, Philippe Bertrand, et al. "PVRL2 Is Translocated to the TCRA Locus in t(14;19)(q11;13) Positive Peripheral T-Cell Lymphoma." Blood 108, no. 11 (2006): 2081. http://dx.doi.org/10.1182/blood.v108.11.2081.2081.

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Abstract T-cell non-Hodgkin lymphomas (NHLs) are uncommon malignancies that represent approximately 15% of aggressive lymphomas in Western countries. Contrasting with B-cell lymphomas, very few recurrent chromosomal abnormalities have been identified. Nevertheless, the TCR loci and preferentially the TCRAD at chromosome band 14q11 could be involved in up to 15% of cases. We recently reported a novel and recurrent t(14;19)(q11;q13) chromosomal translocation in peripheral T-cell lymphoma (PTCL). FISH analysis performed in three cases suggested an implication of the TCRAD locus at 14q11 and of BCL3 at 19q13. We now report the molecular cloning of the genomic junctions for these three patients. Sequence analysis confirmed the involvement of the TCRAD on 14q11 and assessed the breakpoint’s localisation to the TCRA variable region for all cases. In the first, the chromosomal break occurred between the J30 and the J31 segments while in the second it was in the J58 segment. Thus, both translocations probably occurred after an illegitimate V(D)J recombination. Remarkably, for the third patient, junctions with the deltaRec and psi(J)alpha elements were identified on the der(14) and der(19) respectively. Consequently this translocation probably results from an illegitimate deltarec-Psi(J)alpha rearrangement (TCRD deletion) during thymopoiesis before Valpha-Jalpha rearrangements. On chromosome 19, our results indicated a new clustering of breakpoints outside the region documented in t(14;19)(q32;q13) in chronic lymphocytic leukemia. Remarkably, all three breaks occurred ~130kb downstream from BCL3, in the PVRL2 gene. Consequently, the TCRA locus enhancer is juxtaposed to PVRL2 and BCL3 on the derivative chromosome 19. For two patients, mRNA expression levels were investigated by real time RT-PCR experiments, which confirmed a high expression of both PVRL2 and BCL3. In conclusion, we identified PVRL2 as the recurrent translocation partner of the TCRA locus in PTCL. Whether this clustering results from an important instability of the PVRL2 gene during thymopoiesis remains to be investigated. The PVRL2 overexpression itself may be an important step for T-cell lymphomagenesis.
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Llorenç, Victor, Carla Fuster, Carmen Alba-Linero, et al. "Clinical Features of Primary and Systemic Metastatic Intraocular Lymphomas in Spanish Patients." Journal of Ophthalmology 2019 (October 16, 2019): 1–9. http://dx.doi.org/10.1155/2019/6327041.

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Objectives. To describe and compare clinical findings in different subtypes of biopsy-proven intraocular lymphomas (IOLs). Design. Retrospective, observational case series. Methods. The clinical and pathologic features in IOLs at the Hospital Clinic of Barcelona from 1995 to 2018 were retrospectively studied. Results. Twenty-one patients, 12 men (57%), median age 60 (interquartile range, IQR: 18 years), and a median follow-up of 30 (IQR 60) months were included. Eleven patients had primary vitreo-retinal lymphoma (PVRL, 52%), 4 had primary uveal lymphoma (PUL, 19%), and 6 had systemic metastatic retinal lymphomas (SMRLs, 28%). Diffuse large B-cell lymphoma was the main IOL subset in PVRL (91%) and in SMRL (83%), whereas extranodal marginal zone lymphoma was the only type in PUL (100%). Survival rate was 44% in PVRL and 20% in SMRL at 5 years (p=0.047). One patient had flow cytometry of two different vitreous humour samples. With them, flow cytometry was performed in a total of 11 samples, yielding 7 positive samples. Conclusions and Relevance. Even though PVRL is the most frequent IOL subtype, our findings suggest that PUL and SMRL should be considered as potential IOL causes. Overall survival was poor in PVRL and even shorter in SMRL patients.
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Perez, Kari, Inhwa Yeam, Byoung-Cheorl Kang, et al. "Tobacco etch virus Infectivity in Capsicum Spp. Is Determined by a Maximum of Three Amino Acids in the Viral Virulence Determinant VPg." Molecular Plant-Microbe Interactions® 25, no. 12 (2012): 1562–73. http://dx.doi.org/10.1094/mpmi-04-12-0091-r.

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Potyvirus resistance in Capsicum spp. has been attributed to amino acid substitutions at the pvr1 locus that cause conformational shifts in eukaryotic translation initiation factor eIF4E. The viral genome-linked protein (VPg) sequence was isolated and compared from three Tobacco etch virus (TEV) strains, highly aphid-transmissible (HAT), Mex21, and N, which differentially infect Capsicum genotypes encoding Pvr1+, pvr1, and pvr12. Viral chimeras were synthesized using the TEV-HAT genome, replacing HAT VPg with Mex21 or N VPg. TEV HAT did not infect pepper plants homozygous for either the pvr1 or pvr12 allele. However, the novel chimeric TEV strains, TEV-HATMex21-VPg and TEV-HATN-VPg, infected pvr1 and pvr12 pepper plants, respectively, demonstrating that VPg is the virulence determinant in this pathosystem. Three-dimensional structural models predicted interaction between VPg and the susceptible eIF4E genotype in every case, while resistant genotypes were never predicted to interact. To determine whether there is a correlation between physical interaction of VPg with eIF4E and infectivity, the effects of amino acid variation within VPg were assessed. Interaction between pvr12 eIF4E and N VPg was detected in planta, implying that the six amino acid differences in N VPg relative to HAT VPg are responsible for restoring the physical interaction and infectivity.
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Arai, Ayako, Hiroshi Takase, Kouhei Yamamoto, Hiroki Akiyama, Manabu Mochizuki, and Osamu Miura. "Gene Expression Profiling of Primary Vitreoretinal Lymphoma." Blood 126, no. 23 (2015): 1239. http://dx.doi.org/10.1182/blood.v126.23.1239.1239.

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Abstract Background: Primary vitreoretinal lymphoma (PVRL) is a rare form of non-Hodgkin lymphoma, whose original lesions are limited in the intraocular tissues: the vitreous and the retina. Although its morphological and genetic findings show that most cases are diffuse large B-cell lymphoma (DLBCL), the characteristics of the tumor cells of PVRL, including their origin, have not been defined to date. DLBCL is subdivided into 3 groups: activated B-cell (ABC) type, germinal center B-cell (GCB) type, and primary mediastinal B-cell lymphoma on the basis of genes expressed in differentiation or biologic response of B-cell. In order to determine the origin of the tumor cells of PVRL, we performed gene expression profiling analysis. Methods: PVRL was diagnosed using the following criteria: (1) typical eye involvement: a cloudy vitreous body and/or subretinal proliferative lesions, (2) presence of lymphoma cells in the vitreous fluid, and (3) clonality of the infiltrating lymphoma cells in the vitreous fluid using either PCR analysis of IgH gene rearrangements, or flow cytometry analysis. Patients who had (1) accompanied by either (2) or (3) were diagnosed with VRL. VRL confined to the eyes at diagnosis was defined as PVRL. We used the samples from nodal DLBCL whose types were pathologically determined according to Hans classifier (Blood, 103, p 275, 2004) as control. RNA was extracted from the vitreous fluid and the lymph nodes from PVRL and nodal DLBCL patients, respectively. Since the extracted RNA from PVRL was very small in amount, all RNA samples were amplified with WTA reaction. Then, one-color microarray-based gene expression analysis was performed using SurePrint G3 Human GE Microarray 8x60K v2 (Agilent Technology). Data were extracted and the agglomerative hierarchical clustering was performed on the basis of the genes discriminating GCB/ABC signatures that were published initially by Alizadeh et al. (Nature, 403, p503, 2000). Gene ontology (GO) analysis was performed using DAVID data base. We calculated Z-scores and ratios (non-log scaled fold-change) from the normalized signal intensities of each probe for comparison between 2 groups. Results: We performed gene expression profiling analysis for 7 samples from PVRL patients. We also examined 6 samples from nodal DLBCL patients as control; 4 samples were ABC type, and 2 samples were GCB type. Six of 7 PRVL showed different gene expression profiling from ABC type nodal DLBCL. They were close to that of GCB type. Genes regulating cell adhesion were enriched by GO analysis for genes whose expression was different between PRVL and GCB. Next we examined the relation between the gene expression and the outcomes of PVRL. Four GCB-like PRVL samples were obtained from the patients treated with the same strategy: intravitreal administration of methotrexate (MTX) followed by systemic high dose MTX. Among them, 2 patients revealed early relapse in the CNS a year after the treatment whereas the others did not. We compared the gene expression between them. Three genes, SLC35F1, ADAM19, and SMC1A related to neurological disorders, cell migration, and cell division, respectively, were significantly upegulated in the PRVL with early relapse. Conclusion: The majority of PVRL in the present study were different from ABC type and close to GCB type DLBCL. Further studies are required to confirm that and to determine the genes predicting the outcome. Disclosures No relevant conflicts of interest to declare.
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Liu, Jinman, Zhoujie Xie, Justin Merritt, and Fengxia Qi. "Establishment of a Tractable Genetic Transformation System in Veillonella spp." Applied and Environmental Microbiology 78, no. 9 (2012): 3488–91. http://dx.doi.org/10.1128/aem.00196-12.

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ABSTRACTWe have constructed the firstEscherichia coli-Veillonellashuttle vector based on an endogenous plasmid (pVJL1) isolated from a clinicalVeillonellastrain. A highly transformableVeillonellastrain was also identified. Both the shuttle vector and the transformable strain should be valuable tools for futureVeillonellagenetic studies.
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Liang, Spencer, Ofer Levy, Sudipto Ganguly, et al. "Discovery of COM701, a therapeutic antibody targeting the novel immune checkpoint PVRIG, for the treatment of cancer." Journal of Clinical Oncology 35, no. 15_suppl (2017): 3074. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.3074.

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3074 Background: While inhibitors of CTLA4 and PD1 have emerged as effective cancer therapies, the majority of treated patients do not derive long term benefit. Employing our computational discovery platform, we discovered PVRIG as an immune suppressive molecule expressed on T and NK cells and identified COM701, an antibody (Ab) targeting human PVRIG that enhances T cell function and anti-tumor responses. Methods: Anti-human PVRIG Ab COM701 was identified as an antagonistic Ab that enhanced T cell function in multiple assays. Antagonistic anti-mouse PVRIG Abs and PVRIG deficient (PVRIG-/-) mice were generated and characterized using syngeneic tumor models. Results: PVRIG was induced upon T cell activation, with long term activation leading to the highest expression. PVRL2 was identified as the ligand for PVRIG, placing PVRIG in the DNAM/TIGIT immunoreceptor axis. Compared to normal adjacent tissues, PVRIG and PVRL2 were both induced in the tumor microenvironment of several human cancers. To target PVRIG for therapeutic intervention, we identified COM701, a high affinity Ab that disrupts the interaction of PVRIG with PVRL2. COM701 enhanced CD8 T cell proliferation and IFN-g production in vitro and had an additive or synergistic effect on T cell activation when further combined with an anti-PD1 or anti-TIGIT Ab. Consistent with a checkpoint function for human PVRIG, mouse PVRIG-/- T cells showed increased function compared to wild type T cells. A surrogate antagonistic anti-mPVRIG Ab reduced growth of CT26 and B16 tumors when combined with an anti-PDL1 Ab in vivo. MC38 tumors also grew slower in PVRIG-/- mice compared to wild type mice and ex vivo analysis pointed to functional differences in anti-cancer immunity. Conclusions: We demonstrated that targeting PVRIG with COM701, a high affinity antagonistic Ab, increased human T cell function. We further showed that PVRIG was induced in the tumor microenvironment and that disruption of PVRIG/PVRL2 interaction resulted in reduced tumor growth in preclinical models. These data demonstrate that PVRIG is a promising target for the treatment of cancer and provide the rationale for COM701 as a potential cancer immunotherapy.
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Castellino, Alessia, Jose Pulido, Patrick Johnston, et al. "Role of Systemic High-Dose Methotrexate and Combined Approaches in the Management of Vitreoretinal Diffuse Large B-Cell Lymphoma: A Single Center Experience 1990-2018." Blood 132, Supplement 1 (2018): 574. http://dx.doi.org/10.1182/blood-2018-99-113826.

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Abstract Introduction. Vitreoretinal lymphoma (VRL) is a rare ocular malignancy. Diagnosis and optimal treatment remain a challenge for clinicians. We present clinical characteristics and outcome of a cohort of 69 patients affected by vitreoretinal diffuse large B-cell (DLBCL) lymphoma treated at Mayo Clinic over a 28-year period. Methods. We accessed the Mayo Clinic Lymphoma Data Base to identify all patients > 18 years old with VRL diagnosed between 01/01/1990 and 01/31/2018. Only patients with DLBCL, confirmed at pathological review, were included. Clinical characteristics, therapies, response, relapse patterns and follow up status were collected and analyzed in the cohort and in the different subgroups: primary (PVRL, localized only in eye at diagnosis) vs concurrent (CVRL) vs secondary VRL (SVRL). Chi-squared test, Fisher's exact test and Wilcoxon's signed-rank test were used for analysis. Failure-free survival (FFS), overall survival (OS), central nervous system (CNS) and eye relapse-free survival were analyzed according to Kaplan Meier method. Differences between subgroups were compared with log-rank test. Since the group of SVRL can be affected by a survivorship selection bias, it was investigated separately for the outcome analysis. Results. A total of 69 patients with vitreoretinal DLBCL were included. At diagnosis, 33 (48%) were PVRL, 18 (26%) CVRL (eye plus CNS (N=17) or systemic (N=1) disease) and 18 (26%) had SVRL (9 primary CNS lymphomas, 9 systemic at diagnosis, among which 4 were primary testicular lymphomas). Unilateral intraocular involvement was observed in 16 (23%) cases. Clinical characteristics are reported in Table I. At diagnosis, patients received a systemic treatment in 35 (50%, including high-dose systemic MTX (HD-MTX, N 14, 20%), MTR (HD-MTX, Temozolomide and Rituximab) (N 7, 10%) and CHOP (Cyclophosphamide, Doxorubicin, Vincristine and Prednisone) with or without Rituximab (N 10, 15%)), combined systemic plus intraocular treatment in 15 (22%), local radiotherapy in 10 (14%) and intraocular therapy (intraocular injections of rituximab or MTX or steroids or a combination of these) in 9 (13%) cases. Systemic Rituximab, autologous stem cell transplantation (ASCT) and therapeutic vitrectomy/enucleation were performed in 36 (53%), 20 (29%) and 5 (7%) patients, respectively. The median number of treatments was 2 (range 0-10). Among PVRL and CVRL (N=51), median FFS, CNS relapse-free survival, eye relapse-free survival and OS were: 1.8 y, 4.9 y, 3.8 y and 4.1 y, respectively (Fig 1). Among PVRL they were: 2.6 y, not reached (NR), 5.2 y and 9.3 y, respectively. No CNS relapse occurred beyond 4 years in the PVRL subgroup. The median OS for patients diagnosed between 1990 and 1999, in contrast to 2000 and 2018 was 1.5 y vs 9.4 y respectively (p= 0.0002). OS was significantly higher in PVRL, as compared to CVRL (p= 0.04). Previous immunosuppression and poor performance status were predictive of worse outcome (p=0.04), while ASCT correlated with higher OS (p= 0.009). In PVRL, a combined systemic + intraocular therapy was associated with higher FFS (p=0.002) and CNS-relapse free survival (p= 0.003), but no difference in OS was observed. Among 18 SVRL, at a median follow-up of 1.1 y after vitreoretinal relapse, median FFS and OS were 0.3 y and 1.3 y, respectively. Systemic toxicities included 8 (11.6%) acute renal failures, 8 (11.6%) infections, and 3 (4.3%) hemorrhages. Intraocular toxicities included cataract in 11, vitreal detachment in 3 , ocular hypertension in 5, retinal vessel occlusion in 3 and keratitis in 2 cases. Of 69 patients, 39 (56.5%) died secondary to lymphoma (N=21, 53.8%), infectious toxicity (N=2, 5.2%), unrelated (N=3, 7.7%) or unknown (N=13, 33.3%) causes. Conclusions. VR DLBCL is a rare disease, which can occur as primary, concurrent with systemic, or in relapsed disease. OS over the decades has significantly improved. In PVRL, no late CNS relapses were observed, while late intraocular relapses can occur. A combined approach with intraocular + systemic HD-MTX based treatment at diagnosis was associated with a higher FFS and CNS-relapse free survival in PVRL and is recommended in bilateral involvement, even though no differences in OS were observed. Treatment consolidation with ASCT can be considered in cases with concurrent systemic disease. Further studies are needed to confirm these results and to better define the role of new drugs in treatment of this uncommon malignancy. Disclosures Witzig: Celgene: Consultancy, Membership on an entity's Board of Directors or advisory committees, Research Funding.
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Murphy, John F., James R. Blauth, Kevin D. Livingstone, Vincent K. Lackney, and Molly Kyle Jahn. "Genetic Mapping of the pvr1 Locus in Capsicum spp. and Evidence That Distinct Potyvirus Resistance Loci Control Responses That Differ at the Whole Plant and Cellular Levels." Molecular Plant-Microbe Interactions® 11, no. 10 (1998): 943–51. http://dx.doi.org/10.1094/mpmi.1998.11.10.943.

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Two unlinked, recessive loci have been characterized in Capsicum spp. that independently confer distinct types of resistance to pepper mottle potyvirus (PepMoV). The first locus, from C. annuum cv. Avelar, affected the spread of PepMoV through the plant and had no discernible effect on tobacco etch potyvirus (HAT isolate; TEV-HAT) infection (J. F. Murphy and M. K. Kyle, Phytopathology 85:561-566, 1995). The second locus, found in C. chinense PI 159236 and PI 152225, interfered with PepMoV and TEV-HAT infection in plants and in isolated protoplasts. The resistant responses displayed by the C. chinense accessions to PepMoV and TEV-HAT appeared indistinguishable; however, these accessions were both susceptible to a second isolate of TEV, TEV-Mex21. We propose the symbols pvr1 for recessive PepMoV and TEV resistance from the C. chinense accessions and pvr3 for recessive PepMoV resistance from Avelar. pvr1 has been genetically mapped to a small linkage group with synteny to the short arm of tomato chromosome 3.
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35

Treder, Maximilian. "Retinale Bildgebung könnte die Frühdiagnose eines PVRL deutlich verbessern." Kompass Ophthalmologie 3, no. 1 (2017): 20–22. http://dx.doi.org/10.1159/000454722.

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Ziel: Beurteilung der Merkmale und Prävalenz von Fundusanomalien bei vitreoretinalem Lymphom (VRL) mithilfe multimodaler Bildgebung. Methoden: Wir nahmen eine retrospektive Überprüfung von Bildgebungsstudien bei Patienten vor, bei denen VRL diagnostiziert worden war. Ergebnisse: Bei allen 10 in die Studie aufgenommenen VRL-Patienten (14 Augen) zeigten sich Vitreitis, hyperreflektive Läsionen in der Nahinfrarot-Reflektionsbildgebung sowie hypoautofluoreszente Läsionen in der Fundusautofluoreszenz. Ferner wurden hypofluoreszente Läsionen in der Fluoreszenzangiographie (79%), hypocyaneszente Läsionen in der Indocyaningrün-Angiographie (77%) sowie leichte Abhebungen des retinalen Pigmentepithels (PEDs) (71%) und starke PEDs (36%) in der optischen Kohärenztomographie (OCT) festgestellt. Nodularität der äußeren Retinaschicht wurde in der OCT bei 93% der Fälle festgestellt. Leichte PEDs entsprachen hyperreflektiven, hyperautofluoreszenten, hypofluoreszenten und hypocyaneszenten Läsionen. Schlussfolgerung: In der multimodalen Bildgebung waren in Augen mit VRL mehrere Anzeichen vorhanden. Lymphomatöse Infiltration führte zu fokalen PEDs, die anomale Bildgebungssignale aufwiesen. Nodularität der äußeren Retinaschicht könnte ein zusätzliches Anzeichen von Infiltration darstellen. Multimodale Bildgebung kann Ärzte bei der Frühdiagnose von VRL unterstützen.
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Lee, Je Min, Molly M. Jahn, and Inhwa Yeam. "Allelic relationships at the pvr1 locus in Capsicum annuum." Euphytica 194, no. 3 (2013): 417–24. http://dx.doi.org/10.1007/s10681-013-0967-2.

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Szymczak, Silke, Janina Dose, Guillermo G. Torres, et al. "DNA methylation QTL analysis identifies new regulators of human longevity." Human Molecular Genetics 29, no. 7 (2020): 1154–67. http://dx.doi.org/10.1093/hmg/ddaa033.

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Abstract Human longevity is a complex trait influenced by both genetic and environmental factors, whose interaction is mediated by epigenetic mechanisms like DNA methylation. Here, we generated genome-wide whole-blood methylome data from 267 individuals, of which 71 were long-lived (90–104 years), by applying reduced representation bisulfite sequencing. We followed a stringent two-stage analysis procedure using discovery and replication samples to detect differentially methylated sites (DMSs) between young and long-lived study participants. Additionally, we performed a DNA methylation quantitative trait loci analysis to identify DMSs that underlie the longevity phenotype. We combined the DMSs results with gene expression data as an indicator of functional relevance. This approach yielded 21 new candidate genes, the majority of which are involved in neurophysiological processes or cancer. Notably, two candidates (PVRL2, ERCC1) are located on chromosome 19q, in close proximity to the well-known longevity- and Alzheimer’s disease-associated loci APOE and TOMM40. We propose this region as a longevity hub, operating on both a genetic (APOE, TOMM40) and an epigenetic (PVRL2, ERCC1) level. We hypothesize that the heritable methylation and associated gene expression changes reported here are overall advantageous for the LLI and may prevent/postpone age-related diseases and facilitate survival into very old age.
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Lachke, Salil A., Anne W. Higgins, Maiko Inagaki, et al. "The cell adhesion gene PVRL3 is associated with congenital ocular defects." Human Genetics 131, no. 2 (2011): 235–50. http://dx.doi.org/10.1007/s00439-011-1064-z.

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39

Balasuriya, Udeni B. R., Hans W. Heidner, Jodi F. Hedges, et al. "Expression of the Two Major Envelope Proteins of Equine Arteritis Virus as a Heterodimer Is Necessary for Induction of Neutralizing Antibodies in Mice Immunized with Recombinant Venezuelan Equine Encephalitis Virus Replicon Particles." Journal of Virology 74, no. 22 (2000): 10623–30. http://dx.doi.org/10.1128/jvi.74.22.10623-10630.2000.

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ABSTRACT RNA replicon particles derived from a vaccine strain of Venezuelan equine encephalitis virus (VEE) were used as a vector for expression of the major envelope proteins (GL and M) of equine arteritis virus (EAV), both individually and in heterodimer form (GL/M). Open reading frame 5 (ORF5) encodes the GL protein, which expresses the known neutralizing determinants of EAV (U. B. R. Balasuriya, J. F. Patton, P. V. Rossitto, P. J. Timoney, W. H. McCollum, and N. J. MacLachlan, Virology 232:114–128, 1997). ORF5 and ORF6 (which encodes the M protein) of EAV were cloned into two different VEE replicon vectors that contained either one or two 26S subgenomic mRNA promoters. These replicon RNAs were packaged into VEE replicon particles by VEE capsid protein and glycoproteins supplied intrans in cells that were coelectroporated with replicon and helper RNAs. The immunogenicity of individual replicon particle preparations (pVR21-GL, pVR21-M, and pVR100-GL/M) in BALB/c mice was determined. All mice developed antibodies against the recombinant proteins with which they were immunized, but only the mice inoculated with replicon particles expressing the GL/M heterodimer developed antibodies that neutralize EAV. The data further confirmed that authentic posttranslational modification and conformational maturation of the recombinant GL protein occur only in the presence of the M protein and that this interaction is necessary for induction of neutralizing antibodies.
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Kuo, David, Maggie Wei, Jared Knickelbein, et al. "Validation Study of Logistic Regression in Classifying Primary Vitreoretinal Lymphoma Vs. Uveitis By IL-6 and IL-10 Levels." Blood 132, Supplement 1 (2018): 2971. http://dx.doi.org/10.1182/blood-2018-99-114199.

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Abstract Background/Aim: The aim of this study was to assess the utility of intraocular IL-10 and IL-6 analysis by logistic regression in classifying primary vitreoretinal lymphoma (PVRL) vs. uveitis using a logistic regression model trained on a single-center retrospective cohort as well as the previously published ISOLD score compared against the IL-10/IL-6 ratio. Methods: Patient diagnoses of PVRL vs. uveitis and associated aqueous and/or vitreous IL-6 and IL-10 levels were retrospectively collected. From this data, cytokine levels were compared between diagnoses with the Mann-Whitney U test and a logistic regression model was developed to classify PVRL vs. uveitis from aqueous and vitreous IL-6 and IL-10 by nested cross-validation. ROC curves were plotted and AUCs were calculated for the IL-10/IL-6 ratio, ISOLD score, and our logistic regression model. Optimal cut-offs for each classifier were determined by the maximal Youden index; and sensitivity, specificity, PPV, and NPV were determined for each cut-off. Results: 79 lymphoma (10 aqueous, 69 vitreous) and 84 uveitis patients (19 aqueous, 65 vitreous) between 10/5/1999 and 9/16/2015 were included in the study. IL-6 was higher in uveitis vs. lymphoma patients while IL-10 was higher in lymphoma vs. uveitis patients (p <0.01 for all comparisons). For vitreous samples, our logistic regression model achieved an AUC of 98.3%, while ISOLD achieved an AUC of 97.8%, and the IL-10/IL-6 ratio achieved an AUC of 96.3%. The optimal cut-offs for our logistic regression model, ISOLD, and the IL-10/IL-6 ratio achieved sensitivity/specificity of 92.7%/100%, 94.2%/96.9%, 94.2%/95.3% respectively, corresponding to PPV/NPV of 100%/92.9%, 97%/94%, and 95.6%/93.9% respectively. For aqueous samples, all three classifiers achieved 100% AUC with 100% sensitivity/specificity. Odds ratios of PVRL vs. uveitis were 0.981 (aqueous) and 0.992 (vitreous) for IL-6 and 1.030 (aqueous) and 1.060 (vitreous) for IL-10 according to our logistic regression model. Conclusion: In this study, logistic regression, as demonstrated by our model and the ISOLD score, showed strong classification performance and generalizability with high sensitivity and specificity. These results, in addition to logistic regression's ability to further improve with more training data suggest a promising step forward in intraocular cytokine analysis for the early diagnosis of primary vitreoretinal lymphoma. Additional validation studies, especially with cohorts that have proven challenging for the IL-10/IL-6 ratio, would further elucidate the strengths and weakness of this approach. Disclosures No relevant conflicts of interest to declare.
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Florian, Rupert, Robert Gruber, and Beatrix Volc-Platzer. "A novel homozygous mutation in PVRL4 causes ectodermal dysplasia-syndactyly syndrome 1." International Journal of Dermatology 57, no. 2 (2017): 223–26. http://dx.doi.org/10.1111/ijd.13862.

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Pezzetti, Furio, Annalisa Palmieri, Marcella Martinelli, et al. "Linkage disequilibrium analysis of two genes mapping on OFC3: PVR and PVRL2." European Journal of Human Genetics 15, no. 9 (2007): 992–94. http://dx.doi.org/10.1038/sj.ejhg.5201868.

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43

Bintintan, Adriana, Romeo Ioan Chira, Vasile Virgil Bintintan, et al. "Value of hepatic elastography and Doppler indexes for predictions of esophageal varices in liver cirrhosis." Medical Ultrasonography 17, no. 1 (2015): 5. http://dx.doi.org/10.11152/mu.2013.2066.171.abric.

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Aims: Non-invasive methods are required to diagnose presence and grading of esophageal varices in patients with he- patic cirrhosis and in this respect we have evaluated the role of transient elastography and abdominal ultrasound parameters. Material and methods: Cirrhotic patients were prospectively evaluated by transient elastography and Doppler ultrasound for diagnosis of presence and grading of esophageal varices, the results being compared with the findings of the esophagogas- troduodenoscopy. Results: Sixty patients with hepatic cirrhosis were analysed. The parameters that reached statistical signifi- cance for diagnosis of esophageal varices were: liver stiffness (LSM) > 15 kPa, hemodynamic liver index (PVr1) ≥ 0.66, portal vascular resistance (PVR) > 17.66 and splenoportal index (SPI) > 4.77. The only parameter that reached statistical power for the diagnosis of large esophageal varices was LSM at a cut-off value of 28.8 kPa. Conclusions: Assessment of LSM in patients with liver cirrhosis can predict both the presence of esophageal varices and of large esophageal varices. The PVr1, PVR and SPI Doppler indexes can be used to diagnose the presence of esophageal varices but have no role in the prediction of large esophageal varices. Further studies are required to confirm these results and offer a stronger clinical significance.
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Marchetti, Giovanna, Domenico Girelli, Carlotta Zerbinati, et al. "An integrated genomic-transcriptomic approach supports a role for the proto-oncogene BCL3 in atherosclerosis." Thrombosis and Haemostasis 113, no. 03 (2015): 655–63. http://dx.doi.org/10.1160/th14-05-0466.

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Summaryassociation studies of coronary artery disease (CAD), could include functionally relevant associations. We propose an integrated genomic and transcriptomic approach for unravelling new potential genetic signatures of atherosclerosis. Fifteen among 91 single nucleotide polymorphisms (SNPs) were first selected for association in a sex- and age-adjusted model by examining 510 patients with CAD and myocardial infarction and 388 subjects with normal coronary arteries (CAD-free) in the replication stages of a genome-wide association study. We investigated the expression of 71 genes proximal to the 15 tag-SNPs by two subsequent steps of microarray-based Mrna profiling, the former in vascular smooth muscle cell populations, isolated from non-atherosclerotic and atherosclerotic human carotid portions, and the latter in whole carotid specimens. BCL3 and PVRL2, contiguously located on chromosome 19, and ABCA1, extensively investigated before, were found to be differentially expressed. BCL3 and PVRL2 SNPs were genotyped within a second population of CAD patients (n=442) and compared with CAD-free subjects (n=393). The carriership of the BCL3 rs2965169 G allele was more represented among CAD patients and remained independently associated with CAD after adjustment for all the traditional cardiovascular risk factors (odds ratio=1.70 with 95% confidence interval 1.07–2.71), while the BCL3 rs8100239 A allele correlated with metabolic abnormalities. The upregulation of BCL3 mRNA levels in atherosclerotic tissue samples was consistent with BCL3 protein expression, which was detected by immunostaining in the intima-media of atherosclerotic specimens, but not within non-atherosclerotic ones. Our integrated approach suggests a role for BCL3 in cardiovascular diseases.
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45

Alexander, Bryce, Gary Tse, Manuel Martinez-Selles, and Adrian Baranchuk. "Atrial Conduction Disorders." Current Cardiology Reviews 17, no. 1 (2021): 68–73. http://dx.doi.org/10.2174/1573403x17666210112161524.

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Atrial conduction disorders result from impaired propagation of cardiac impulses from the sinoatrial node through the atrial conduction pathways. Disorders affecting interatrial conduction alter P-wave characteristics on the surface electrocardiogram. A variety of P-wave indices reflecting derangements in atrial conduction have been described and have been associated with an increased risk of atrial fibrillation (AF) and stroke. Interatrial block (IAB) is the most well-known of the different P-wave indices and is important clinically due to its ability to predict patients who are at risk of the development of AF and other supraventricular tachycardias. P-Wave Axis is a measure of the net direction of atrial depolarization and is determined by calculating the net vector of the P-wave electrical activation in the six limb-leads using the hexaxial reference system. It has been associated with stroke and it has been proposed that this variable be added to the existing CHA2DS2-VASc score to create a P2-CHA2DS2-VASc score to improve stroke prediction. P-Terminal Force in V1 is thought to be an epiphenomenon of advanced atrial fibrotic disease and has been shown to be associated with a higher risk of death, cardiac death, and congestive heart failure as well as an increased risk of AF. P-wave Dispersion is defined as the difference between the shortest and longest P-wave duration recorded on multiple concurrent surface ECG leads on a standard 12-lead ECG and has also been associated with the development of AF and AF recurrence. Pwave voltage in lead I (PVL1) is thought to be an electrocardiographic representation of cardiac conductive properties and, therefore, the extent of atrial fibrosis relative to myocardial mass. Reduced PVL1 has been demonstrated to be associated with new-onset AF in patients with coronary artery disease and may be useful for predicting AF. Recently a risk score (the MVP risk score) has been developed using IAB and PVL1 to predict atrial fibrillation and has shown a good predictive ability to determine patients at high risk of developing atrial fibrillation. The MVP risk score is currently undergoing validation in other populations. This section reviews the different P-wave indices in-depth, reflecting atrial conduction abnormalities.
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Delpeut, Sebastien, Ryan Noyce, and Christopher Richardson. "The Tumor-Associated Marker, PVRL4 (Nectin-4), Is the Epithelial Receptor for Morbilliviruses." Viruses 6, no. 6 (2014): 2268–86. http://dx.doi.org/10.3390/v6062268.

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47

Ramagopalan, S. V., G. C. DeLuca, K. M. Morrison, et al. "No effect of APOE and PVRL2 on the clinical outcome of multiple sclerosis." Journal of Neuroimmunology 186, no. 1-2 (2007): 156–60. http://dx.doi.org/10.1016/j.jneuroim.2007.02.003.

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48

Ahmad, Farooq, Abdul Nasir, Holger Thiele, Muhammad Umair, Guntram Borck, and Wasim Ahmad. "A novel homozygous missense variant inNECTIN4 (PVRL4)causing ectodermal dysplasia cutaneous syndactyly syndrome." Annals of Human Genetics 82, no. 4 (2018): 232–38. http://dx.doi.org/10.1111/ahg.12244.

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Jelani, Musharraf, Muhammad Salman Chishti, and Wasim Ahmad. "Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1)." Journal of Human Genetics 56, no. 5 (2011): 352–57. http://dx.doi.org/10.1038/jhg.2011.18.

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Stanietsky, N., H. Simic, J. Arapovic, et al. "The interaction of TIGIT with PVR and PVRL2 inhibits human NK cell cytotoxicity." Proceedings of the National Academy of Sciences 106, no. 42 (2009): 17858–63. http://dx.doi.org/10.1073/pnas.0903474106.

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