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https://www.readbyqxmd.com/read/28445952/socs3-inhibits-the-pathological-effects-of-il-22-in-non-melanoma-skin-tumor-derived-keratinocytes
#1
Stefania Madonna, Claudia Scarponi, Martina Morelli, Rosanna Sestito, Pasqualina Liana Scognamiglio, Daniela Marasco, Cristina Albanesi
Basal cell carcinomas (BCC) and squamous-cell carcinomas (SCC) are common malignancies in humans, caused by neoplastic transformation of keratinocytes of the basal or suprabasal layers of epidermis, respectively. Tumor-infiltrating lymphocytes (TILs) are frequently found in BCC and SCC, and functionally promote epithelial carcinogenesis. TILs secreting IL-22, in particular, participate to BCC and SCC growth by inducing keratinocyte proliferation and migration, as well as the expression of inflammatory, anti-apoptotic and pro-angiogenic genes...
April 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28445522/revealing-phenotype-associated-functional-differences-by-genome-wide-scan-of-ancient-haplotype-blocks
#2
Ritsuko Onuki, Rui Yamaguchi, Tetsuo Shibuya, Minoru Kanehisa, Susumu Goto
Genome-wide scans for positive selection have become important for genomic medicine, and many studies aim to find genomic regions affected by positive selection that are associated with risk allele variations among populations. Most such studies are designed to detect recent positive selection. However, we hypothesize that ancient positive selection is also important for adaptation to pathogens, and has affected current immune-mediated common diseases. Based on this hypothesis, we developed a novel linkage disequilibrium-based pipeline, which aims to detect regions associated with ancient positive selection across populations from single nucleotide polymorphism (SNP) data...
2017: PloS One
https://www.readbyqxmd.com/read/28445147/identification-of-rs7350481-at-chromosome-11q23-3-as-a-novel-susceptibility-locus-for-metabolic-syndrome-in-japanese-individuals-by-an-exome-wide-association-study
#3
Yoshiji Yamada, Jun Sakuma, Ichiro Takeuchi, Yoshiki Yasukochi, Kimihiko Kato, Mitsutoshi Oguri, Tetsuo Fujimaki, Hideki Horibe, Masaaki Muramatsu, Motoji Sawabe, Yoshinori Fujiwara, Yu Taniguchi, Shuichi Obuchi, Hisashi Kawai, Shoji Shinkai, Seijiro Mori, Tomio Arai, Masashi Tanaka
We have performed exome-wide association studies to identify genetic variants that influence body mass index or confer susceptibility to obesity or metabolic syndrome in Japanese. The exome-wide association study for body mass index included 12,890 subjects, and those for obesity and metabolic syndrome included 12,968 subjects (3954 individuals with obesity, 9014 controls) and 6817 subjects (3998 individuals with MetS, 2819 controls), respectively. Exome-wide association studies were performed with Illumina HumanExome-12 DNA Analysis BeadChip or Infinium Exome-24 BeadChip arrays...
April 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28444912/whole-genome-sequencing-reveals-a-novel-deletion-variant-in-the-kit-gene-in-horses-with-white-spotted-coat-colour-phenotypes
#4
N Dürig, R Jude, H Holl, S A Brooks, C Lafayette, V Jagannathan, T Leeb
White spotting phenotypes in horses can range in severity from the common white markings up to completely white horses. EDNRB, KIT, MITF, PAX3 and TRPM1 represent known candidate genes for such phenotypes in horses. For the present study, we re-investigated a large horse family segregating a variable white spotting phenotype, for which conventional Sanger sequencing of the candidate genes' individual exons had failed to reveal the causative variant. We obtained whole genome sequence data from an affected horse and specifically searched for structural variants in the known candidate genes...
April 26, 2017: Animal Genetics
https://www.readbyqxmd.com/read/28444906/carbamoyl-phosphate-synthetase-1-deficiency-diagnosed-by-whole-exome-sequencing
#5
Guoqing Zhang, Yulin Chen, Huiqun Ju, Fei Bei, Jing Li, Jian Wang, Jianhua Sun, Jun Bu
BACKGROUND: Carbamoyl Phosphate Synthetase 1 deficiency (CPS1D) is a rare autosomal recessive inborn metabolic disease characterized mainly by hyperammonemia. The fatal nature of CPS1D and its similar symptoms with other urea cycle disorders (UCDs) make its diagnosis difficult, and the molecular diagnosis is hindered due to the large size of the causative gene CPS1. Therefore, the objective of the present study was to investigate the clinical applicability of exome sequencing in molecular diagnosis of CPS1D in Chinese population...
April 26, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28444748/identification-of-coagulation-gene-3-utr-variants-that-are-potentially-regulated-by-micrornas
#6
Carla Y Vossen, Astrid van Hylckama Vlieg, Raúl Teruel-Montoya, Salam Salloum-Asfar, Hugoline de Haan, Javier Corral, Pieter Reitsma, Bobby P C Koeleman, Constantino Martínez
MicroRNAs have been recognized as critical regulators of gene expression and might affect the risk of venous thrombosis. We aimed to identify 3' untranslated region (UTR) variants in coagulation genes that influence coagulation factor levels and venous thrombosis risk. The 3'UTR of coagulation genes were sequenced in subjects with extremely high or low plasma levels of these factors in two case-control studies. In total, 28 variants were identified. Five single nucleotide polymorphisms (SNPs) were predominantly present in one extreme level group (F2 rs1799963, F8 rs1050705 and F11 rs4253429, rs4253430 and rs1062547)...
April 26, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28444735/from-genetic-single-candidate-gene-studies-to-complex-genomics-of-gvhd
#7
REVIEW
Katarzyna Bogunia-Kubik, Piotr Łacina
Graft-versus-host disease (GvHD) is a serious complication affecting the recipients of allogeneic haematopoietic stem cells. In this present review we attempt to summarize the current knowledge on the effect of the donor and recipient genotypes on GvHD, starting from human leucocyte antigen (HLA) matching for an optimal donor selection, typing of non-classical HLA and minor histocompatibility antigens through the polymorphic variations in genes coding for non-HLA proteins contributing to the development of GvHD and response to treatment...
April 26, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28444615/polygenic-study-of-endurance-associated-genetic-markers-ace-i-d-actn3-arg-r-577ter-x-ckmm-a-g-ncoi-and-enos-glu-g-298asp-t-in-male-gorkha-soldiers
#8
Seema Malhotra, Kiran Preet, Arvind Tomar, Shweta Rawat, Sayar Singh, Inderjeet Singh, L Robert Varte, Tirthankar Chatterjee, M S Pal, Soma Sarkar
BACKGROUND: Gorkhas, a sub-mountainous population of the Himalayan region, are known for strength and bravery. In the present study when "Gorkha" is used without brackets, we are mentioning Gorkhas of Tibeto-Burman origin. Physical capability, strength and endurance are important components of fitness associated with genetic traits. The aim of this study was to examine the endurance potential of male Gorkha soldiers, based on endurance-related genetic markers ACE I/D, ACTN3 Arg (R)577Ter(X), CKMM A/G NcoI and eNOS Glu(G)298Asp(T)...
December 2017: Sports Medicine—Open
https://www.readbyqxmd.com/read/28444389/smithrnas-could-mitochondria-bend-nuclear-regulation
#9
Andrea Pozzi, Federico Plazzi, Liliana Milani, Fabrizio Ghiselli, Marco Passamonti
Typically, animal mitochondria have very compact genomes, with few short intergenic regions, and no introns. Hence, it may seem that there is little space for unknown functions in mitochondrial DNA (mtDNA). However, mtDNA can also operate through RNA interference, as small non coding RNAs (sncRNAs) produced by mtDNA have already been proposed for humans. We sequenced sncRNA libraries from isolated mitochondria of Ruditapes philippinarum (Mollusca Bivalvia) gonads, a species with doubly uniparental inheritance of mitochondria (DUI), and identified several putative sncRNAs of mitochondrial origin...
April 21, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/28444304/a-frequent-oligogenic-involvement-in-congenital-hypothyroidism
#10
Tiziana de Filippis, Giulia Gelmini, Elvezia Paraboschi, Maria Cristina Vigone, Marianna Di Frenna, Federica Marelli, Marco Bonomi, Alessandra Cassio, Daniela Larizza, Mirella Moro, Giorgio Radetti, Mariacarolina Salerno, Diego Ardissino, Giovanna Weber, Davide Gentilini, Fabiana Guizzardi, Stefano Duga, Luca Persani
Congenital Hypothyroidism (CH), the most frequent form of preventable mental retardation, is predicted to have a relevant genetic origin. However, CH is frequently reported to be sporadic and candidate gene variations were found in < 10% of the investigated patients. Here, we characterize the involvement of 11 candidate genes through a systematic Next Generation Sequencing (NGS) analysis. The NGS was performed in 177 unrelated CH patients (94 gland-in-situ; 83 dysgenesis) and in 3,538 control subjects...
April 21, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28443471/suppressing-the-molecular-signaling-pathways-involved-in-inflammation-and-cancer-in-breast-cancer-cell-lines-mda-mb-231-and-mcf-7-by-mir-590
#11
Azar Sheikholeslami, Mohammad Nabiuni, Ehsan Arefian
Breast cancer is the most frequent cancer among women worldwide. Tumor immunology suggests relationships between the immune system, chronic inflammation, and cancer. The immune system may either prevent or promote carcinogenesis. Here, we evaluated molecular signaling pathways common in inflammation and cancer and detected the microRNAs which play pivotal roles in mediating these pathways. Using bioinformatics assays, signaling pathways common in inflammation and cancer, and microRNAs mediating these pathways were identified...
April 2017: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/28443393/cd14-gene-silencing-alters-the-microrna-expression-profile-of-raw264-7-cells-stimulated-by-brucella-melitensis-infection
#12
Hui Rong, Hanwei Jiao, Yongchang Hao, Feng Pang, Guohua Li, Dongmei Peng, Yaying Li, Yuanzhi Wang, Hui Zhang, Quanshui Fan, Fengyang Wang, Chuangfu Chen, Li Du
Innate recognition of Brucella spp. is a key step in the activation of inflammation. CD14 binds PAMPs and is involved in LPS-induced pro-inflammatory cytokine release. Previously we showed that knock down of CD14 in RAW264.7 macrophages disrupted Brucella-host interactions. However, its effect on the macrophage microRNA (miRNA) expression profile, especially after stimulation by Brucella infection, is still unclear. To identify miRNAs involved in the macrophage response to Brucella infection, we performed miRNA expression profiling of CD14 knock-down RAW264...
January 1, 2017: Innate Immunity
https://www.readbyqxmd.com/read/28443124/fine-mapping-of-a-resistance-gene-rpshn-that-controls-phytophthora-sojae-using-recombinant-inbred-lines-and-secondary-populations
#13
Jingping Niu, Na Guo, Jutao Sun, Lihong Li, Yongce Cao, Shuguang Li, Jianli Huang, Jinming Zhao, Tuanjie Zhao, Han Xing
Phytophthora root rot (PRR), caused by Phytophthora sojae, has negative effects on soybean yield in China and can be controlled by identifying germplasm resources with resistance genes. In this study, the resistance locus RpsHN in the soybean line Meng8206 was mapped using two mapping populations. Initial mapping was realized using two recombinant inbred line (RIL) populations and included 103 F6:8 RILs derived from a cross of Meng8206 × Linhedafenqing, including 2600 bin markers, and 130 F6:8 RILs derived from a cross of Meng8206 × Zhengyang148, including 2267 bin markers...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28443112/transcriptome-guided-mining-of-genes-involved-in-crocin-biosynthesis
#14
Aijia Ji, Jing Jia, Zhichao Xu, Ying Li, Wu Bi, Fengming Ren, Chunnian He, Jie Liu, Kaizhi Hu, Jingyuan Song
Gardenia jasminoides is used in traditional Chinese medicine and has drawn attention as a rich source of crocin, a compound with reported activity against various cancers, depression and cardiovascular disease. However, genetic information on the crocin biosynthetic pathway of G. jasminoides is scarce. In this study, we performed a transcriptome analysis of the leaves, green fruits, and red fruits of G. jasminoides to identify and predict the genes that encode key enzymes responsible for crocin production, compared with Crocus sativus...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28443110/expression-profiling-of-castanea-genes-during-resistant-and-susceptible-interactions-with-the-oomycete-pathogen-phytophthora-cinnamomi-reveal-possible-mechanisms-of-immunity
#15
Carmen Santos, Sofia Duarte, Sara Tedesco, Pedro Fevereiro, Rita L Costa
The most dangerous pathogen affecting the production of chestnuts is Phytophthora cinnamomi a hemibiotrophic that causes root rot, also known as ink disease. Little information has been acquired in chestnut on the molecular defense strategies against this pathogen. The expression of eight candidate genes potentially involved in the defense to P. cinnamomi was quantified by digital PCR in Castanea genotypes showing different susceptibility to the pathogen. Seven of the eight candidate genes displayed differentially expressed levels depending on genotype and time-point after inoculation...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28443080/genome-sequencing-reveals-the-complex-polysaccharide-degrading-ability-of-novel-deep-sea-bacterium-flammeovirga-pacifica-wpaga1
#16
Boliang Gao, Min Jin, Li Li, Wu Qu, Runying Zeng
Flammeovirga pacifica strain WPAGA1 is a Gram-negative, polysaccharide-degrading bacterium isolated from the marine sediment of the West Pacific Ocean. This strain is a cosmopolitan marine bacterium that uses complex polysaccharides as exclusive source of carbon and energy and plays a key role in the marine carbon cycle. Genome sequence analysis of strain WPAGA1 revealed that the assembled fine genome contains 6,610,326 bp with 32.89% G+C content, 5036 open reading frames (ORFs) and abundant genomic elements...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28443016/genetics-of-aggression-in-alzheimer-s-disease-ad
#17
Walter J Lukiw, Evgeny I Rogaev
Alzheimer's disease (AD) is a terminal, age-related neurological syndrome exhibiting progressive cognitive and memory decline, however AD patients in addition exhibit ancillary neuropsychiatric symptoms (NPSs) and these include aggression. In this communication we provide recent evidence for the mis-regulation of a small family of genes expressed in the human hippocampus that appear to be significantly involved in expression patterns common to both AD and aggression. DNA array- and mRNA transcriptome-based gene expression analysis and candidate gene association and/or genome-wide association studies (CGAS, GWAS) of aggressive attributes in humans have revealed a surprisingly small subset of six brain genes that are also strongly associated with altered gene expression patterns in AD...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28442729/the-mapkkk-and-mapkk-gene-families-in-banana-identification-phylogeny-and-expression-during-development-ripening-and-abiotic-stress
#18
Lianzhe Wang, Wei Hu, Weiwei Tie, Zehong Ding, Xupo Ding, Yang Liu, Yan Yan, Chunlai Wu, Ming Peng, Biyu Xu, Zhiqiang Jin
The mitogen-activated protein kinase (MAPK) cascade, which is a major signal transduction pathway widely distributed in eukaryotes, has an important function in plant development and stress responses. However, less information is known regarding the MAPKKK and MAPKK gene families in the important fruit crop banana. In this study, 10 MAPKK and 77 MAPKKK genes were identified in the banana genome, and were classified into 4 and 3 subfamilies respectively based on phylogenetic analysis. Majority of MAPKKK and MAPKK genes in the same subfamily shared similar gene structures and conserved motifs...
April 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28442506/genome-wide-association-studies-of-chemotherapeutic-toxicities-genomics-of-inequality
#19
Brandon Mapes, Omar El Charif, Shereen Al-Sawwaf, M Eileen Dolan
With an estimated global population of cancer survivors exceeding 32 million and growing, there is a heightened awareness of the long-term toxicities resulting from cancer treatments and their impact on quality of life. Unexplained heterogeneity in the persistence and development of toxicities, as well as an incomplete understanding of their mechanisms have generated a growing need for the identification of predictive pharmacogenomic markers. Early studies addressing this need used a candidate gene approach; however, over the last decade, unbiased and comprehensive genome-wide association studies (GWAS) have provided markers of phenotypic risk and potential targets to explore the mechanistic and regulatory pathways of biological functions associated with chemotherapeutic toxicity...
April 25, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28442438/dorsal-fin-development-in-flounder-paralichthys-olivaceus-bud-formation-and-its-cellular-origin
#20
Jie Chen, Xiaoyu Liu, Xiaohua Yao, Fei Gao, Baolong Bao
The development of the median fin has not been investigated extensively in teleosts, although in other fishes it has been proposed that it involves the same genetic programs operating in the paired appendages. Adult median fins develop from the larval bud; therefore an investigation of fin bud formation and its cellular origin is essential to understanding the maturation mechanisms. In Paralichthys olivaceus, skeletogenesis proceeds from an anterior to posterior direction providing a good opportunity to study the formation of dorsal fin bud...
April 22, 2017: Gene Expression Patterns: GEP
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