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https://www.readbyqxmd.com/read/29909594/the-influence-of-adolescence-on-parents-perspectives-of-testing-and-discussing-inherited-cancer-predisposition
#1
Corinna L Schultz, Melissa A Alderfer, Robert B Lindell, Zachary McClain, Kristin Zelley, Kim E Nichols, Carol A Ford
Li-Fraumeni syndrome (LFS) is a highly penetrant cancer predisposition syndrome that may present with a first cancer before or during adolescence/young adulthood. Families offered LFS genetic testing for their children can inform our understanding of how the unique developmental context of adolescence influences parental perspectives about genetic testing and discussions of cancer risk. In this study, semi-structured interviews were conducted with 46 parents of children at risk for LFS to capture those perspectives...
June 16, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29909409/the-possible-role-of-gene-variant-coding-nonfunctional-toll-like-receptor-2-in-the-pathogenesis-of-mastocytosis
#2
Bogusław Nedoszytko, Magdalena Lange, Joanna Renke, Marek Niedoszytko, Monika Zabłotna, Jolanta Gleń, Roman Nowicki
BACKGROUND: Data on the genetic predisposition to mastocytosis are scarce. The aim of this work was to study the association of single nucleotide polymorphisms of Toll-like receptor (TLR)-2, TLR-4, and TLR-9 genes in Polish patients with mastocytosis. OBJECTIVES: The study comprised 137 patients with mastocytosis (102 cutaneous [60 children and 42 adults] and 35 systemic cases); 171 disease-free individuals were used as controls. METHOD: The frequency of polymorphisms R753Q (rs5743708) of TLR-2, 896 A>G (rs496790) of TLR-4, and -1237C>T (rs5743836) of TLR-9 genes were determined with the use of the amplification refractory mutation system polymerase chain reaction method...
June 15, 2018: International Archives of Allergy and Immunology
https://www.readbyqxmd.com/read/29909144/pde8b-mutation-is-not-associated-with-parkinson-s-disease-in-a-taiwanese-population
#3
Tian-Sin Fan, Ruey-Meei Wu, Han-I Lin, Chieh Cheng, Chin-Hsien Lin
Mutations in the phosphodiesterase 8B gene (PDE8B) were recently linked to autosomal-dominant striatal degeneration clinically presenting as slowly progressive parkinsonism. PDE8B degrades cyclic adenosine monophosphate (cAMP), a second messenger involved in dopamine signaling. Dopamine deficiency is the pathognomonic feature of Parkinson's disease (PD). Few studies have explored the role of PDE8B in PD. We aim to address the genetic contribution of PDE8B in early-onset and familial PD in a Taiwanese population...
May 26, 2018: Neurobiology of Aging
https://www.readbyqxmd.com/read/29908994/accounting-for-radiation-induced-indirect-damage-on-dna-with-the-geant-4-dna-code
#4
Liset de la Fuente Rosales, Sebastien Incerti, Ziad Francis, Mario A Bernal
The use of Monte Carlo (MC) simulations remains a powerful tool to study the biological effects induced by ionizing radiation on living beings. Several MC codes are commonly used in research fields such as nanodosimetry, radiotherapy, radiation protection, and space radiation. This work presents an enhancement of an existing model [1] for radiobiological purposes, to account for the indirect DNA damage induced by ionizing particles. The Geant4-DNA simulation toolkit was used to simulate the physical, pre-chemical, and chemical stages of early DNA damage induced by protons and α-particles...
June 13, 2018: Physica Medica: PM
https://www.readbyqxmd.com/read/29908326/protein-coding-mitochondrial-targeted-rnas-rescue-mitochondrial-disease-in-vivo
#5
Desiree M Markantone, Atif Towheed, Aaron T Crain, Jessica M Collins, Alicia M Celotto, Michael J Palladino
Mitochondrial encephalomyopathies (MEs) result from mutations in mitochondrial genes critical to oxidative phosphorylation. Severe and untreatable ME results from mutations affecting each endogenous mitochondrial encoded gene, including all 13 established protein coding genes. Effective techniques to manipulate mitochondrial genome are limited and targeted mitochondrial protein expression is currently unavailable. Here we report the development of a mitochondrial-targeted RNA expression (mtTRES) vector capable of protein expression within mitochondria (mtTRESPro )...
June 13, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29908099/pathogenesis-of-primordial-odontogenic-tumour-based-on-tumourigenesis-and-odontogenesis
#6
Toshinari Mikami, Ronell Bologna-Molina, Adalberto Mosqueda-Taylor, Ikuko Ogawa, Vanesa Pereira-Prado, Naoki Fujiwara, Fabio Ramoa Pires, Roman Carlos, Takashi Takata, Yasunori Takeda
OBJECTIVE: Primordial odontogenic tumour (POT) is a rare benign mixed epithelial and mesenchymal odontogenic tumour. POT is composed of dental papilla-like tissue covered with cuboidal to columnar epithelium that resembles to inner and outer enamel epithelium of the enamel organ without dental hard tissue formation. The aim of this study was to examine pathogenesis of POT based on tumourigenesis and odontogenesis. SUBJECTS AND METHODS: Six cases of POT were submitted for study...
June 16, 2018: Oral Diseases
https://www.readbyqxmd.com/read/29907643/integrin-activity-in-neuronal-connectivity
#7
REVIEW
Johanna Lilja, Johanna Ivaska
The formation of correct synaptic structures and neuronal connections is paramount for normal brain development and a functioning adult brain. The integrin family of cell adhesion receptors and their ligands play essential roles in the control of several processes regulating neuronal connectivity - including neurite outgrowth, the formation and maintenance of synapses, and synaptic plasticity - that are affected in neurodevelopmental disorders, such as autism spectrum disorders (ASDs) and schizophrenia. Many ASD- and schizophrenia-associated genes are linked to alterations in the genetic code of integrins and associated signalling pathways...
June 15, 2018: Journal of Cell Science
https://www.readbyqxmd.com/read/29907571/synonymous-nucleotide-modification-of-the-kcnh2-gene-affects-both-mrna-characteristics-and-translation-of-the-encoded-herg-ion-channel
#8
Alexander C Bertalovitz, Marika L Osterbur Badhey, Thomas V McDonald
Synonymous nucleotide variation is increasingly recognized as a factor than can affect protein expression, but the underlying mechanisms are incompletely understood. Here, we investigated whether synonymous changes could affect expression of the potassium voltage gated channel subfamily H member 2 (KCNH2) gene, encoding the human ether-a-go-go related gene (hERG) ion channel which is linked to hereditary cardiac arrhythmia. We examined a previously described synthetic version (hERG-CM) with synonymous substitutions designed to reduce GC content, rare codons, and mRNA secondary structure relative to the native construct (hERG-NT)...
June 15, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29907308/advanced-editing-of-the-nuclear-and-plastid-genomes-in-plants
#9
Agnieszka A Piatek, Scott C Lenaghan, C Neal Stewart
Genome editing is a powerful suite of technologies utilized in basic and applied plant research. Both nuclear and plastid genomes have been genetically engineered to alter traits in plants. While the most frequent molecular outcome of gene editing has been knockouts resulting in a simple deletion of an endogenous protein of interest from the host's proteome, new genes have been added to plant genomes and, in several instances, the sequence of endogenous genes have been targeted for a few coding changes. Targeted plant characteristics for genome editing range from single gene targets for agronomic input traits to metabolic pathways to endow novel plant function...
August 2018: Plant Science: An International Journal of Experimental Plant Biology
https://www.readbyqxmd.com/read/29905076/genetic-variation-in-9p21-and-the-plasma-proteome
#10
Sara Mahdavi, David J A Jenkins, Christoph H Borchers, Ahmed El-Sohemy
Single nucleotide polymorphisms (SNPs) in the non-coding region of 9p21 have been associated with cardiovascular disease (CVD), but the mechanisms by which these genetic variants contribute to the pathogenesis of CVD remain unknown since no annotated proteins are present in this region of DNA. The objective of the current study was to determine if 9p21 genotypes are associated with distinct plasma proteins in young adults. Subjects were 1,611 young adults aged 20-29 years from the Toronto Nutrigenomics and Health Study (1,098 females and 513 males)...
June 15, 2018: Journal of Proteome Research
https://www.readbyqxmd.com/read/29904359/analysis-of-the-influence-of-micrornas-in-lithium-response-in-bipolar-disorder
#11
Céline S Reinbold, Andreas J Forstner, Julian Hecker, Janice M Fullerton, Per Hoffmann, Liping Hou, Urs Heilbronner, Franziska Degenhardt, Mazda Adli, Kazufumi Akiyama, Nirmala Akula, Raffaella Ardau, Bárbara Arias, Lena Backlund, Antonio Benabarre, Susanne Bengesser, Abesh K Bhattacharjee, Joanna M Biernacka, Armin Birner, Cynthia Marie-Claire, Pablo Cervantes, Guo-Bo Chen, Hsi-Chung Chen, Caterina Chillotti, Scott R Clark, Francesc Colom, David A Cousins, Cristiana Cruceanu, Piotr M Czerski, Alexandre Dayer, Bruno Étain, Peter Falkai, Louise Frisén, Sébastien Gard, Julie S Garnham, Fernando S Goes, Paul Grof, Oliver Gruber, Ryota Hashimoto, Joanna Hauser, Stefan Herms, Stéphane Jamain, Esther Jiménez, Jean-Pierre Kahn, Layla Kassem, Sarah Kittel-Schneider, Sebastian Kliwicki, Barbara König, Ichiro Kusumi, Nina Lackner, Gonzalo Laje, Mikael Landén, Catharina Lavebratt, Marion Leboyer, Susan G Leckband, Carlos A López Jaramillo, Glenda MacQueen, Mirko Manchia, Lina Martinsson, Manuel Mattheisen, Michael J McCarthy, Susan L McElroy, Marina Mitjans, Francis M Mondimore, Palmiero Monteleone, Caroline M Nievergelt, Urban Ösby, Norio Ozaki, Roy H Perlis, Andrea Pfennig, Daniela Reich-Erkelenz, Guy A Rouleau, Peter R Schofield, K Oliver Schubert, Barbara W Schweizer, Florian Seemüller, Giovanni Severino, Tatyana Shekhtman, Paul D Shilling, Kazutaka Shimoda, Christian Simhandl, Claire M Slaney, Jordan W Smoller, Alessio Squassina, Thomas J Stamm, Pavla Stopkova, Sarah K Tighe, Alfonso Tortorella, Gustavo Turecki, Julia Volkert, Stephanie H Witt, Adam J Wright, L Trevor Young, Peter P Zandi, James B Potash, J Raymond DePaulo, Michael Bauer, Eva Reininghaus, Tomáš Novák, Jean-Michel Aubry, Mario Maj, Bernhard T Baune, Philip B Mitchell, Eduard Vieta, Mark A Frye, Janusz K Rybakowski, Po-Hsiu Kuo, Tadafumi Kato, Maria Grigoroiu-Serbanescu, Andreas Reif, Maria Del Zompo, Frank Bellivier, Martin Schalling, Naomi R Wray, John R Kelsoe, Martin Alda, Francis J McMahon, Thomas G Schulze, Marcella Rietschel, Markus M Nöthen, Sven Cichon
Bipolar disorder (BD) is a common, highly heritable neuropsychiatric disease characterized by recurrent episodes of mania and depression. Lithium is the best-established long-term treatment for BD, even though individual response is highly variable. Evidence suggests that some of this variability has a genetic basis. This is supported by the largest genome-wide association study (GWAS) of lithium response to date conducted by the International Consortium on Lithium Genetics (ConLiGen). Recently, we performed the first genome-wide analysis of the involvement of miRNAs in BD and identified nine BD-associated miRNAs...
2018: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/29904057/characterization-and-phylogenetic-analysis-of-the-complete-mitochondrial-genome-of-the-medicinal-fungus-laetiporus-sulphureus
#12
Qiang Li, Mei Yang, Cheng Chen, Chuan Xiong, Xin Jin, Zhigang Pu, Wenli Huang
The medicinal fungus Laetiporus sulphureus is widely distributed worldwide. To screen for molecular markers potentially useful for phylogenetic analyses of this species and related species, the mitochondrial genome of L. sulphureus was sequenced and assembled. The complete circular mitochondrial genome was 101,111 bp long, and contained 38 protein-coding genes (PCGs), 2 rRNA genes, and 25 tRNA genes. Our BLAST search aligned about 6.1 kb between the mitochondrial and nuclear genomes of L. sulphureus, indicative of possible gene transfer events...
June 14, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29903198/-relationships-among-long-noncoding-rna-environmental-factors-and-hypertension
#13
Rong Chen, Shiying Chen, Tingxing Zhang, Jiabing Lin, Chunyu Wan, Zhou Chen, Huangyuan Li, Yan Ding, Siying Wu
OBJECTIVE: To understand the main environmental factors of hypertension, and to explore the relationship between hypertension and leukocyte long noncoding RNA. METHODS: A case-control study was conducted in a hospital in Fuzhou City by using stratified random sampling method between Nov. 2014 and Jun. 2015 including 382 essential hypertension patients and 382 control subjects. The related surveys included questionnaire investigation, physical examination and laboratory detection...
November 2017: Wei Sheng Yan Jiu, Journal of Hygiene Research
https://www.readbyqxmd.com/read/29902792/xy-sry-positive-ovarian-disorder-of-sex-development-in-cattle
#14
Lisa De Lorenzi, Silvana Arrighi, Elena Rossi, Pierangela Grignani, Carlo Previderè, Stefania Bonacina, Fausto Cremonesi, Pietro Parma
In mammals, the sex of the embryo depends on the SRY gene. In the presence of at least one intact and functional copy of this genetic factor (XY embryo) undifferentiated gonads will develop as testicles that subsequently determine the male phenotype. When this factor is not present, i.e., in subjects with 2 X chromosomes, an alternative pathway induces the development of ovaries, hence a female phenotype. In this case study, we describe a female cattle affected by a disorder of sex development (DSD). The subject, despite having a chromosomal XY constitution, did not develop testicles but ovaries, although they were underdeveloped...
June 13, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29902383/review-of-recent-efforts-to-discover-biomarkers-for-early-detection-monitoring-prognosis-and-prediction-of-treatment-responses-of-patients-with-gastric-cancer
#15
Koichi Sawaki, Mitsuro Kanda, Yasuhiro Kodera
Gastric cancer (GC) is the leading cause of cancer-related death worldwide. Despite recent advances in diagnosis and therapy, the prognosis of patients with GC is poor. Many patients have inoperable disease upon diagnosis or experience recurrent disease after curative gastrectomy. Unfortunately, tumor markers for GC, such as serum carcinoembryonic antigen and carbohydrate antigen 19-9, lack sufficient sensitivity and specificity. Therefore, effective biomarkers are required to detect early GC and to predict tumor recurrence and chemosensitivity...
June 14, 2018: Expert Review of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/29900232/camera-trap-and-questionnaire-dataset-on-ecosystem-services-provided-by-small-carnivores-in-agro-ecosystems-in-south-africa
#16
Samual T Williams, Naudene Maree, Peter Taylor, Steven R Belmain, Mark Keith, Lourens H Swanepoel
This dataset includes data derived from camera trap surveys and questionnaire surveys relating to small carnivores in agro-ecosystems in the Vhembe Biosphere Reserve, South Africa. The data were collected as part of the study "Predation by small mammalian carnivores in rural agro-ecosystems: An undervalued ecosystem service?" (Williams et al., 2017a) [1]. Camera trap locations were stratified by land use: settlement, crops, and grazing areas. The camera trap data provide an insight into the ecology of the nine species of small carnivores that were recorded: striped polecat ( Ictonyx striatus ), honey badger ( Mellivora capensis ), large-spotted genet ( Genetta maculata ), African civet ( Civettictis civetta ), slender mongoose ( Galerella sanguinea ), Meller's mongoose ( Rhynchogale melleri ), Selous' mongoose ( Paracynictis selousi ), white tailed mongoose ( Ichneumia albicauda ), and dwarf mongoose ( Helogale parvula )...
June 2018: Data in Brief
https://www.readbyqxmd.com/read/29900071/actively-transcribed-and-expressed-atp8-gene-in-mytilus-edulis-mussels
#17
Marek Lubośny, Aleksandra Przyłucka, Beata Śmietanka, Sophie Breton, Artur Burzyński
Background: Animal mitochondrial genomes typically encode 37 genes: 13 proteins, 22 tRNAs and two rRNAs. However, many species represent exceptions to that rule. Bivalvia along with Nematoda and Platyhelminthes are often suspected to fully or partially lack the ATP synthase subunit 8 ( atp8 ) gene. This raises the question as to whether they are really lacking this gene or is this maybe an annotation problem? Among bivalves, Mytilus edulis has been inferred to lack an ATP8 gene since the characterization of its mitochondrial genome in 1992 ...
2018: PeerJ
https://www.readbyqxmd.com/read/29899660/detecting-the-population-structure-and-scanning-for-signatures-of-selection-in-horses-equus-caballus-from-whole-genome-sequencing-data
#18
Cheng Zhang, Pan Ni, Hafiz Ishfaq Ahmad, M Gemingguli, A Baizilaitibei, D Gulibaheti, Yaping Fang, Haiyang Wang, Akhtar Rasool Asif, Changyi Xiao, Jianhai Chen, Yunlong Ma, Xiangdong Liu, Xiaoyong Du, Shuhong Zhao
Animal domestication gives rise to gradual changes at the genomic level through selection in populations. Selective sweeps have been traced in the genomes of many animal species, including humans, cattle, and dogs. However, little is known regarding positional candidate genes and genomic regions that exhibit signatures of selection in domestic horses. In addition, an understanding of the genetic processes underlying horse domestication, especially the origin of Chinese native populations, is still lacking. In our study, we generated whole genome sequences from 4 Chinese native horses and combined them with 48 publicly available full genome sequences, from which 15 341 213 high-quality unique single-nucleotide polymorphism variants were identified...
2018: Evolutionary Bioinformatics Online
https://www.readbyqxmd.com/read/29899096/directed-evolution-of-an-influenza-reporter-virus-to-restore-replication-and-virulence-and-enhance-non-invasive-bioluminescence-imaging-in-mice
#19
Hui Cai, Meisui Liu, Charles J Russell
Reporter viruses provide a powerful tool to study infection, yet incorporating a non-essential gene often results in virus attenuation and genetic instability. Here, we used directed evolution of a luciferase-expressing pandemic H1N1 (pH1N1) 2009 influenza A virus in mice to restore replication kinetics and virulence, increase the bioluminescence signal, and maintain reporter gene expression. An unadapted pH1N1 virus with NanoLuc luciferase inserted into the 5' end of the PA gene segment grew to titers 10-fold less than wild-type in MDCK cells and in DBA/2 mice and was less virulent...
June 13, 2018: Journal of Virology
https://www.readbyqxmd.com/read/29898989/disruption-of-a-35kb-enhancer-impairs-ctcf-binding-and-mlh1-expression-in-colorectal-cells
#20
Qing Liu, Julie A Thoms, Andrea C Nunez, Yizhou Huang, Kathy Knezevic, Deborah Packham, Rebecca C Poulos, Rachel Williams, Dominik Beck, Nicholas J Hawkins, Robyn L Ward, Jason W H Wong, Luke B Hesson, Mathew A Sloane, John Pimanda
PURPOSE: MLH1 is a major tumour suppressor gene involved in the pathogenesis of Lynch syndrome and various sporadic cancers. Despite their potential pathogenic importance, genomic regions capable of regulating MLH1 expression over long distances have yet to be identified. EXPERIMENTAL DESIGN: Here we use chromosome conformation capture (3C) to screen a 650-kb region flanking the MLH1 locus to identify interactions between the MLH1 promoter and distal regions in MLH1 expressing and non-expressing cells...
June 13, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
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