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Yuho Nakamura, Keisuke Naito, Yumi Yamashita-Kanemaru, Daisuke Komori, Rei Hirochika, Akira Shibuya, Kazuko Shibuya
T cell immunoglobulin and ITIM domains (TIGIT) is an inhibitory immunoreceptor expressed on NK cells, effector and memory T cells, and regulatory T cells (Tregs). The ligands for TIGIT are CD155 (PVR) and CD112 (PVRL2, nectin-2), which are broadly expressed on hematopoietic cells and nonhematopoietic cells. TIGIT negatively regulates antitumor responses, but promotes autoimmune reaction. Although neutralizing anti-human TIGIT mAbs are under clinical trials for cancers, how the blockade of TIGIT interaction with the ligands shows tumor immunity still remains unclear...
April 12, 2018: Monoclonal Antibodies in Immunodiagnosis and Immunotherapy
Ena Xiao, Qiang Chen, Aaron L Goldman, Hao Yang Tan, Kaitlin Healy, Brad Zoltick, Saumitra Das, Bhaskar Kolachana, Joseph H Callicott, Dwight Dickinson, Karen F Berman, Daniel R Weinberger, Venkata S Mattay
BACKGROUND: We explored the cumulative effect of several late-onset Alzheimer's disease (LOAD) risk loci using a polygenic risk profile score (RPS) approach on measures of hippocampal function, cognition, and brain morphometry. METHODS: In a sample of 231 healthy control subjects (19-55 years of age), we used an RPS to study the effect of several LOAD risk loci reported in a recent meta-analysis on hippocampal function (determined by its engagement with blood oxygen level-dependent functional magnetic resonance imaging during episodic memory) and several cognitive metrics...
November 2017: Biological Psychiatry: Cognitive Neuroscience and Neuroimaging
Massimiliano Lucidi, Federica Runci, Giordano Rampioni, Emanuela Frangipani, Livia Leoni, Paolo Visca
Understanding bacterial pathogenesis requires adequate genetic tools to assess the role of individual virulence determinants by mutagenesis and complementation assays, as well as for homologous and heterologous expression of cloned genes. Our knowledge of Acinetobacter baumannii pathogenesis has so far been limited by the scarcity of genetic tools to manipulate multidrug-resistant (MDR) epidemic strains, which are responsible for most infections. Here, we report on the construction of new multipurpose shuttle plasmids, namely, pVRL1 and pVRL2, which can efficiently replicate in Acinetobacter spp...
April 2018: Antimicrobial Agents and Chemotherapy
Anatoliy I Yashin, Fang Fang, Mikhail Kovtun, Deqing Wu, Matt Duan, Konstantin Arbeev, Igor Akushevich, Alexander Kulminski, Irina Culminskaya, Ilya Zhbannikov, Arseniy Yashkin, Eric Stallard, Svetlana Ukraintseva
Despite evident success in clarifying many important features of Alzheimer's disease (AD) the efficient methods of its prevention and treatment are not yet available. The reasons are likely to be the fact that AD is a multifactorial and heterogeneous health disorder with multiple alternative pathways of disease development and progression. The availability of genetic data on individuals participated in longitudinal studies of aging health and longevity, as well as on participants of cross-sectional case-control studies allow for investigating genetic and non-genetic connections with AD and to link the results of these analyses with research findings obtained in clinical, experimental, and molecular biological studies of this health disorder...
October 26, 2017: Experimental Gerontology
Richard Bronson, Anatoly Mikhailik, John Schwedes, Dimitri Gnatenko, Eli Hatchwell
PURPOSE: Approximately 40% of infertile men have an abnormal semen analysis, resulting from either abnormalities of sperm production (defective spermatogenesis) or sperm shape (defective spermiogenesis). This latter process is dependent upon the function of Sertoli cells, which maintain specialized junctional complexes with germ cells. Nectins, members of the immunoglobulin superfamily, participate in formation of these dynamic complexes. Male mice in which the nectin-2 or nectin-3 gene is knocked out are sterile...
October 2017: Journal of Assisted Reproduction and Genetics
Stefan Ehrentraut, Stefan Nagel, Claudia Pommerenke, Wilhelm G Dirks, Hilmar Quentmeier, Maren Kaufmann, Corinna Meyer, Margarete Zaborski, Robert Geffers, Hiroshi Fujiwara, Hans G Drexler, Roderick A F MacLeod
No abstract text is available yet for this article.
September 2017: Haematologica
Lin Liu, Haisong Bu, Yifeng Yang, Zhiping Tan, Fei Zhang, Shijun Hu, Tianli Zhao
BACKGROUND: Congenital heart disease (CHD), plus cleft lip and palate (CLP) are currently the most common types of structural malformation in infants. Many genes have been investigated for their involvement in CHD with CLP. Targeted next-generation sequencing can analyze large amounts of genetic information rapidly, and thus address this question. METHODS: The authors designed a targeted, next-generation sequencing gene panel for 455 genes previously implicated in CHD or CLP...
June 2017: Journal of Craniofacial Surgery
Aránzazu Rossignoli, Ming-Mei Shang, Hanna Gladh, Christine Moessinger, Hassan Foroughi Asl, Husain Ahammad Talukdar, Oscar Franzén, Steffen Mueller, Johan L M Björkegren, Erika Folestad, Josefin Skogsberg
OBJECTIVE: Recently, poliovirus receptor-related 2 (Pvrl2) emerged as a top gene in a global gene expression study aiming to detect plasma cholesterol-responsive genes causally related to atherosclerosis regression in hypercholesterolemic mice. PVRL2 is an adherens junction protein implied to play a role in transendothelial migration of leukocytes, a key feature in atherosclerosis development. In this study, we investigated the effect of Pvrl2 deficiency on atherosclerosis development and transendothelial migration of leukocytes activity...
March 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
Raffaele Ferrari, Yunpeng Wang, Jana Vandrovcova, Sebastian Guelfi, Aree Witeolar, Celeste M Karch, Andrew J Schork, Chun C Fan, James B Brewer, Parastoo Momeni, Gerard D Schellenberg, William P Dillon, Leo P Sugrue, Christopher P Hess, Jennifer S Yokoyama, Luke W Bonham, Gil D Rabinovici, Bruce L Miller, Ole A Andreassen, Anders M Dale, John Hardy, Rahul S Desikan
BACKGROUND: Clinical, pathological and genetic overlap between sporadic frontotemporal dementia (FTD), Alzheimer's disease (AD) and Parkinson's disease (PD) has been suggested; however, the relationship between these disorders is still not well understood. Here we evaluated genetic overlap between FTD, AD and PD to assess shared pathobiology and identify novel genetic variants associated with increased risk for FTD. METHODS: Summary statistics were obtained from the International FTD Genomics Consortium, International PD Genetics Consortium and International Genomics of AD Project (n>75 000 cases and controls)...
February 2017: Journal of Neurology, Neurosurgery, and Psychiatry
Claudia Otto, René Scholtysik, Roland Schmitz, Markus Kreuz, Claudia Becher, Michael Hummel, Andreas Rosenwald, Lorenz Trümper, Wolfram Klapper, Reiner Siebert, Ralf Küppers
Chromosomal translocations involving an immunoglobulin (IG) locus and a proto-oncogene play a major role in diffuse large B-cell lymphoma (DLBCL) pathogenesis. Recurrent IG translocation partners in DLBCL are the BCL6, BCL2, and MYC genes, but other rare translocation partners are also known. We studied 20 DLBCL with fluorescence in situ hybridization-based evidence for IG heavy chain (IGH) locus-associated translocations not involving BCL6, BCL2, MALT1, or MYC by long distance inverse PCR to identify the translocation partners...
December 2016: Genes, Chromosomes & Cancer
Mohsen Ghanbari, M Arfan Ikram, Hans W J de Looper, Albert Hofman, Stefan J Erkeland, Oscar H Franco, Abbas Dehghan
MicroRNAs (miRNAs) serve as key post-transcriptional regulators of gene expression. Genetic variation in miRNAs and miRNA-binding sites may affect miRNA function and contribute to disease risk. Here, we investigated the extent to which variants within miRNA-related sequences could constitute a part of the functional variants involved in developing Alzheimer's disease (AD), using the largest available genome-wide association study of AD. First, among 237 variants in miRNAs, we found rs2291418 in the miR-1229 precursor to be significantly associated with AD (p-value = 6...
2016: Scientific Reports
Y Yuan, P Wang, Y H Wu-Chou, X Q Ye, S Z Huang, B Shi, K Wang, Z Q Wang, D J Liu, Z F Wang, T Wu, H Wang
OBJECTIVE: To explore the association and gene-environment interaction between single nucleotide polymorphisms (SNPs) involved in cell-cell adhesion and non-syndromic cleft lip with or without cleft palate (NSCL/P) among Chinese population. METHODS: A total of 806 NSCL/P trios were drawn by an international consortium, which conducted a genome-wide association study (GWAS) using a case-parent trio design to investigate genes affecting risks to NSCL/P. The transmission disequilibrium test (TDT) was used to explore the association between cell-cell adhesion genes, including CDH1, CTNNB1, PVRL1, PVRL2, PVRL3, ACTN1, VCL, LEF1, and NSCL/P...
June 18, 2016: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
Jenny Ortega-Rojas, Luis Morales, Esneyder Guerrero, Carlos E Arboleda-Bustos, Adriana Mejia, Diego Forero, Luis Lopez, Rodrigo Pardo, Gonzalo Arboleda, Juan Yunis, Humberto Arboleda
OBJECTIVE: We evaluated the association of several single-nucleotide polymorphisms in different genes including APOE, TOMM40, CR1, PVRL2, SORL1, PICALM, and GWA_14q32.13 in a Colombian sample of Late-Onset Alzheimer disease (LOAD) patients. METHODS: A case-control study was conducted in 362 individuals (181 LOADs and 181 controls) to determine the association of single-nucleotide polymorphisms in APOE (e2, e3, and e4), TOMM40 (rs2075650), CR1 (rs665640), PVRL2 (rs6859), SORL1 (rs11218304), PICALM (rs3851179), and GWA_14q32...
October 2016: Alzheimer Disease and Associated Disorders
Qianyi Xiao, Zhi-Jun Liu, Sha Tao, Yi-Min Sun, Deke Jiang, Hong-Lei Li, Haitao Chen, Xu Liu, Brittany Lapin, Chi-Hsiung Wang, S Lilly Zheng, Jianfeng Xu, Zhi-Ying Wu
More than 30 independent single-nucleotide polymorphisms (SNPs) have been associated with Alzheimer's disease (AD) risk by genome-wide association studies (GWAS) in European. We aimed to confirm these SNPs in Chinese Han and investigate the utility of these genetic markers. We randomly divided 459 sporadic AD (SAD) patients and 751 cognitively normal controls into two sets (discovery and testing). Thirty-three SAD risk-associated SNPs were firstly tested in the discovery set. Significant SNPs were used to calculate genetic risk score (GRS) in the testing set...
November 10, 2015: Oncotarget
Mohsen Ghanbari, Oscar H Franco, Hans W J de Looper, Albert Hofman, Stefan J Erkeland, Abbas Dehghan
BACKGROUND: Genome-wide association studies enabled us to discover a large number of variants and genomic loci contributing to cardiovascular and metabolic disorders. However, because the vast majority of the identified variants are thought to merely be proxies for other functional variants, the causal mechanisms remain to be elucidated. We hypothesized that the part of the functional variants involved in deregulating cardiometabolic genes is located in microRNA (miRNA)-binding sites...
June 2015: Circulation. Cardiovascular Genetics
Sandra L Laston, V Saroja Voruganti, Karin Haack, Vallabh O Shah, Arlene Bobelu, Jeanette Bobelu, Donica Ghahate, Antonia M Harford, Susan S Paine, Francesca Tentori, Shelley A Cole, Jean W MacCluer, Anthony G Comuzzie, Philip G Zager
The objective of this study is to identify genetic factors associated with chronic kidney disease (CKD) and related cardiometabolic phenotypes among participants of the Genetics of Kidney Disease in Zuni Indians study. The study was conducted as a community-based participatory research project in the Zuni Indians, a small endogamous tribe in rural New Mexico. We recruited 998 members from 28 extended multigenerational families, ascertained through probands with CKD who had at least one sibling with CKD. We used the Illumina Infinium Human1M-Duo version 3...
2015: Frontiers in Genetics
Jon Infante, Carlos Prieto, María Sierra, Pascual Sánchez-Juan, Isabel González-Aramburu, Coro Sánchez-Quintana, José Berciano, Onofre Combarros, Jesús Sainz
The commonest known cause of Parkinson's disease (PD) is the G2019S mutation of the LRRK2 gene, but this mutation is not sufficient for causing PD, and many carriers of the mutation never develop PD symptoms during life. Differences at the expression level of certain genes, resulting from either genetic variations or environmental interactions, might be one of the mechanisms underlying differential risks for developing both idiopathic and genetic PD. To identify the genes involved in PD pathogenesis, we compared genome-wide gene expression (RNA-seq) in peripheral blood of 20 PD patients carrying the G2019S mutation of the LRRK2 gene, 20 asymptomatic carriers of the mutation, 20 subjects with idiopathic PD, 20 controls and 7 PD patients before and after initiating dopaminergic therapy...
February 2015: Neurobiology of Aging
Giovanna Marchetti, Domenico Girelli, Carlotta Zerbinati, Barbara Lunghi, Simonetta Friso, Silvia Meneghetti, Matteo Coen, Teresa Gagliano, Giuseppe Guastella, Marie-Luce Bochaton-Piallat, Francesca Pizzolo, Francesco Mascoli, Giovanni Malerba, Matteo Bovolenta, Manuela Ferracin, Oliviero Olivieri, Francesco Bernardi, Nicola Martinelli
Data with border-line statistical significance, copiously generated in genome-wide association 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...
March 2015: Thrombosis and Haemostasis
Nicholas A Vitanza, Wafik Zaky, Roy Blum, Julia A Meyer, Jinhua Wang, Teena Bhatla, Debra J Morrison, Elizabeth A Raetz, William L Carroll
BACKGROUND: Ikaros, the product of IKZF1, is a regulator of lymphoid development and polymorphisms in the gene have been associated with the acute lymphoblastic leukemia (ALL). Additionally, IKZF1 deletions and mutations identify high-risk biological subsets of childhood ALL [Georgopoulos et al. Cell 1995;83(2):289-299; Mullighan et al. N Engl J Md 2009;360(5):470-480]. PROCEDURES: To discover the underlying pathways modulated by Ikaros we performed gene expression and gene ontology analysis in IKZF1 deleted primary B-ALL pediatric patient samples...
October 2014: Pediatric Blood & Cancer
Ronni Rômulo Novaes E Brito, Patricia Xander, Elizabeth C Pérez, Juliana T Maricato, Maria Fl Laurindo, Beatriz H P De Lorenzo, Renata Pellegrino, Viviane Bernardo, José Daniel Lopes, Mario Mariano
New Zealand Black X New Zealand White F1 [(NZB/NZW)F1] mice develop an autoimmune condition with similarities to human systemic lupus erythematosus (SLE). In this study, we demonstrate that B-1 cells, which have previously been reported to be involved in several autoimmune diseases, have altered gene expression in these mice. RNA was extracted from purified B-1 cells of disease-free C57BL/6 mice and lupus-prone (NZB/NZW)F1 mice. Gene expression was analysed using DNA microarray techniques and validated by real time reverse transcriptase polymerase chain reaction (RT-PCR)...
2014: Immunological Investigations
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