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https://www.readbyqxmd.com/read/28434142/cancer-genetic-counseling-and-testing-in-an-era-of-rapid-change
#1
Gillian W Hooker, Keelia Rhoads Clemens, John Quillin, Kristen J Vogel Postula, Pia Summerour, Rebecca Nagy, Adam H Buchanan
The impacts of the Association for Molecular Pathology vs. Myriad Supreme Court decision regarding patenting DNA segments and multi-gene testing on cancer genetic counseling practice have not been well described. We aimed to assess genetic counselors' perceptions of how their genetic testing-related practices for hereditary breast and/or ovarian cancer (HBOC) changed after these events. One-hundred fifty-two genetic counselors from the National Society of Genetic Counselors Cancer Special Interest Group completed an anonymous, online, mixed-methods survey in November 2013...
April 22, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28434113/precision-knockdown-of-egfr-gene-expression-using-radio-frequency-electromagnetic-energy
#2
Ilya V Ulasov, Haidn Foster, Mike Butters, Jae-Geun Yoon, Tomoko Ozawa, Theodore Nicolaides, Xavier Figueroa, Parvinder Hothi, Michael Prados, John Butters, Charles Cobbs
Electromagnetic fields (EMF) in the radio frequency energy (RFE) range can affect cells at the molecular level. Here we report a technology that can record the specific RFE signal of a given molecule, in this case the siRNA of epidermal growth factor receptor (EGFR). We demonstrate that cells exposed to this EGFR siRNA RFE signal have a 30-70% reduction of EGFR mRNA expression and ~60% reduction in EGFR protein expression vs. control treated cells. Specificity for EGFR siRNA effect was confirmed via RNA microarray and antibody dot blot array...
April 22, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28434104/mullerian-dysgenesis-a-critical-review-of-the-literature
#3
REVIEW
Souzana Choussein, Dimitrios Nasioudis, Dimitrios Schizas, Konstantinos P Economopoulos
PURPOSE: To present an update of the genetic, clinical, diagnostic, and therapeutic aspects of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. METHODS: Studies were considered eligible if they have evaluated patients with MRKH syndrome. Eligible articles were identified by a search of MEDLINE bibliographical database from 1950 to August 2016. A purely descriptive approach was adopted concerning all outcomes examined by the individual studies. RESULTS: MRKH syndrome is defined as congenital aplasia of the upper vagina and impairment of uterine development in normal 46XX females...
April 22, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28434073/direct-downregulation-of-b-cell-translocation-gene-3-by-microrna-93-is-required-for-desensitizing-esophageal-cancer-to-radiotherapy
#4
Hujun Cui, Shengqiang Zhang, Hongbo Zhou, Ling Guo
BACKGROUND: Esophageal squamous carcinoma (ESC) is one of the most fatal malignancies worldwide with increasing occurrences yet poor outcome. MicroRNAs were reported to play roles in ESC. AIMS: We aimed to understand how miRNAs affect the radiotherapy resistance of ESC. METHODS: MicroRNA assays, real-time PCR, and Western blot were performed for expression analysis of miR-93 and BTG3. Luciferase activity assay was conducted with mutated B-cell translocation gene 3 (BTG3) 3'-UTR sequence in the 3' end of luciferase sequence with miR-93 inhibitor...
April 22, 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/28433994/the-chs4-chromatin-insulator-reduces-the-rate-of-retroviral-vector-mediated-gene-dysregulation-associated-with-aberrant-vector-transcription
#5
Xianyao Zhou, Qiujun Liu, Da Wang, Xuemei Zhang, David W Emery, Chang L Li
Integrating gammaretroviral vectors can dysregulate the expression of cellular genes through a variety of mechanisms, leading to genotoxicity and malignant transformation. Although most attention has focused on the activation of cellular genes by vector enhancers, aberrant fusion transcripts involving cellular gene sequences and vector promoters, vector splice elements, and vector transcription termination sequences have also been mechanistically associated with dysregulated expression of cellular genes. Chromatin insulators have emerged as an effective tool for reducing the frequency of vector-mediated genotoxicity and malignant transformation and have been shown to block the activation of cellular genes by vector enhancers...
April 22, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28433936/sustained-viral-gene-delivery-from-a-micro-fibrous-elastomeric-cardiac-patch-to-the-ischemic-rat-heart
#6
Xinzhu Gu, Yasumoto Matsumura, Ying Tang, Souvik Roy, Richard Hoff, Bing Wang, William R Wagner
Biodegradable and elastomeric patches have been applied to the surface of infarcted hearts as temporary mechanical supports to effectively alter adverse left ventricular remodeling processes. In this report, recombinant adeno-associated virus (AAV), known for its persistent transgene expression and low pathogenicity, was incorporated into elastomeric polyester urethane urea (PEUU) and polyester ether urethane urea (PEEUU) and processed by electrospinning into two formats (solid fibers and core-sheath fibers) designed to influence the controlled release behavior...
April 14, 2017: Biomaterials
https://www.readbyqxmd.com/read/28433925/low-dose-pollutant-mixture-triggers-metabolic-disturbances-in-female-mice-leading-to-common-and-specific-features-as-compared-to-a-high-fat-diet
#7
Emmanuel Labaronne, Claudie Pinteur, Nathalie Vega, Sandra Pesenti, Benoit Julien, Emmanuelle Meugnier-Fouilloux, Hubert Vidal, Danielle Naville, Brigitte Le Magueresse-Battistoni
Environmental pollutants are potential etiologic factors of obesity and diabetes that reach epidemic proportions worldwide. However, it is important to determine if pollutants could exert metabolic defects without directly inducing obesity. The metabolic disturbances triggered in nonobese mice lifelong exposed to a mixture of low-dose pollutants (2,3,7,8-tetrachlorodibenzo-p-dioxine, polychlorinated biphenyl 153, diethylhexyl-phthalate, and bisphenol A) were compared with changes provoked by a high-fat high-sucrose (HFHS) diet not containing the pollutant mixture...
April 8, 2017: Journal of Nutritional Biochemistry
https://www.readbyqxmd.com/read/28433800/chromosomal-alterations-and-gene-expression-changes-associated-with-the-progression-of-leukoplakia-to-advanced-gingivobuccal-cancer
#8
Priyanka G Bhosale, Simona Cristea, Srikant Ambatipudi, Rajiv S Desai, Rajiv Kumar, Asawari Patil, Shubhada Kane, Anita M Borges, Alejandro A Schäffer, Niko Beerenwinkel, Manoj B Mahimkar
We present an integrative genome-wide analysis that can be used to predict the risk of progression from leukoplakia to oral squamous cell carcinoma (OSCC) arising in the gingivobuccal complex (GBC). We find that the genomic and transcriptomic profiles of leukoplakia resemble those observed in later stages of OSCC and that several changes are associated with this progression, including amplification of 8q24.3, deletion of 8p23.2, and dysregulation of DERL3, EIF5A2, ECT2, HOXC9, HOXC13, MAL, MFAP5 and NELL2. Comparing copy number profiles of primary tumors with and without lymph-node metastasis, we identify alterations associated with metastasis, including amplifications of 3p26...
April 20, 2017: Translational Oncology
https://www.readbyqxmd.com/read/28433777/design-and-expeditious-synthesis-of-organosilanes-as-potent-antivirals-targeting-multidrug-resistant-influenza-a-viruses
#9
Yanmei Hu, Yuanxiang Wang, Fang Li, Chunlong Ma, Jun Wang
The efficacy of current influenza vaccines and small molecule antiviral drugs is curtailed by the emerging of multidrug-resistant influenza viruses. As resistance to the only FDA-approved oral influenza antiviral, oseltamivir (Tamiflu), continues to rise, there is a clear need to develop the next-generation of antiviral drugs. Since more than 95% of current circulating influenza A viruses carry the S31N mutation in their M2 genes, the AM2-S31N mutant proton channel represents an attractive target for the development of broad-spectrum antivirals...
April 19, 2017: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28433772/mesenchymal-stem-cells-induce-epithelial-to-mesenchymal-transition-in-colon-cancer-cells-through-direct-cell-to-cell-contact
#10
Hidehiko Takigawa, Yasuhiko Kitadai, Kei Shinagawa, Ryo Yuge, Yukihito Higashi, Shinji Tanaka, Wataru Yasui, Kazuaki Chayama
We previously reported that in an orthotopic nude mouse model of human colon cancer, bone marrow-derived mesenchymal stem cells (MSCs) migrated to the tumor stroma and promoted tumor growth and metastasis. Here, we evaluated the proliferation and migration ability of cancer cells cocultured with MSCs to elucidate the mechanism of interaction between cancer cells and MSCs. Proliferation and migration of cancer cells increased following direct coculture with MSCs but not following indirect coculture. Thus, we hypothesized that direct contact between cancer cells and MSCs was important...
April 20, 2017: Neoplasia: An International Journal for Oncology Research
https://www.readbyqxmd.com/read/28433771/a-versatile-tumor-gene-deletion-system-reveals-a-crucial-role-for-fgfr1-in-breast-cancer-metastasis
#11
Wei Wang, Yanling Meng, Bingning Dong, Jie Dong, Michael M Ittmann, Chad J Creighton, Lu Yang, Hong Zhang, Tao Shen, Jianghua Wang, David R Rowley, Yi Li, Fengju Chen, David D Moore, Feng Yang
RCAS avian viruses have been used to deliver oncogene expression and induce tumors in transgenic mice expressing the virus receptor TVA. Here we report the generation and characterization of a novel RCAS-Cre-IRES-PyMT (RCI-PyMT) virus designed to specifically knockout genes of interest in tumors generated in appropriate mutant mouse hosts. FGF receptor 1 (FGFR1) is a gene that is amplified in human breast cancer, but there have been no definitive studies on its function in mammary tumorigenesis, progression, and metastasis in vivo in spontaneous tumors in mice...
April 20, 2017: Neoplasia: An International Journal for Oncology Research
https://www.readbyqxmd.com/read/28433754/mir-146a-suppresses-stat3-vegf-pathways-and-reduces-apoptosis-through-il-6-signaling-in-primary-human-retinal-microvascular-endothelial-cells-in-high-glucose-conditions
#12
Eun-Ah Ye, Jena J Steinle
microRNA (miRNA) play critical roles in the pathological processes of diabetic retinopathy, including inflammatory responses, insulin signaling, and angiogenesis. In addition to their regulatory functions on gene expression, miRNA is considered as a potential therapeutic target, as well as a diagnostic marker for many diseases. Our understanding on the pathological mechanisms underlying diabetic retinopathy is still incomplete and additional investigations are required to develop novel therapeutic strategies...
April 19, 2017: Vision Research
https://www.readbyqxmd.com/read/28433741/loss-of-the-neurodevelopmental-gene-zswim6-alters-striatal-morphology-and-motor-regulation
#13
David J Tischfield, Dave K Saraswat, Andrew Furash, Stephen C Fowler, Marc V Fuccillo, Stewart A Anderson
The zinc-finger SWIM domain-containing protein 6 (ZSWIM6) is a protein of unknown function that has been associated with schizophrenia and limited educational attainment by three independent genome-wide association studies. Additionally, a putatively causal point mutation in ZSWIM6 has been identified in several cases of acromelic frontonasal dysostosis with severe intellectual disability. Despite the growing number of studies implicating ZSWIM6 as an important regulator of brain development, its role in this process has never been examined...
April 19, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28433718/three-new-piscidins-from-orange-spotted-grouper-epinephelus-coioides-phylogeny-expression-and-functional-characterization
#14
Ze-Rui Zhuang, Xiao-Dong Yang, Xia-Zi Huang, Hui-Xian Gu, Han-Yin Wei, Yi-Jun He, Li Deng
The present study reports the identification, and characterization of three new putative piscidin paralogues, ecPis-2, ecPis-3 and ecPis-4, from orange-spotted grouper (Epinephelus coioides). The cDNA of the three piscidins with the 207, 216, and 231 nt open reading frame encoded respectively a 68-, 71-, and 76-amino acid preprotein consisting of the predicted signal peptide, and putative mature peptide and prodomain. The phylogenetic analysis indicated that multiple piscidin paralogues in one fish species are highly diversified, the analysis suggested that the piscidins should be a family belonging to the superfamily of ancient cationic, linear, and amphipathic host defence peptides widespread across invertebrate and vertebrate taxa comprising insect cecropins and ceratotoxins, and the amphibian dermaseptins...
April 19, 2017: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/28433712/common-phox2b-poly-alanine-contractions-impair-ret-gene-transcription-predisposing-to-hirschsprung-disease
#15
Eleonora Di Zanni, Annalisa Adamo, Elga Belligni, Margherita Lerone, Giuseppe Martucciello, Girolamo Mattioli, Alessio Pini Prato, Roberto Ravazzolo, Margherita Silengo, Tiziana Bachetti, Isabella Ceccherini
HSCR is a congenital disorder of the enteric nervous system, characterized by the absence of neurons along a variable length of the gut resulting from loss-of-function RET mutations. Congenital Central Hypoventilation Syndrome (CCHS) is a rare neurocristopathy characterized by impaired response to hypercapnia and hypoxemia caused by heterozygous mutations of the PHOX2B gene, mostly polyalanine (polyA) expansions but also missense, nonsense, and frameshift mutations, while polyA contractions are common in the population and believed neutral...
April 19, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28433711/mdh2-is-an-rna-binding-protein-involved-in-downregulation-of-sodium-channel-scn1a-expression-under-seizure-condition
#16
Yong-Hong Chen, Shu-Jing Liu, Mei-Mei Gao, Tao Zeng, Guo-Wang Lin, Na-Na Tan, Hui-Ling Tang, Ping Lu, Tao Su, Wei-Wen Sun, Long-Chang Xie, Yong-Hong Yi, Yue-Sheng Long
Voltage-gated sodium channel α-subunit type I (NaV1.1, encoded by SCN1A gene) plays a critical role in the excitability of brain. Downregulation of SCN1A expression is associated with epilepsy, a common neurological disorder characterized by recurrent seizures. Here we reveal a novel role of malate dehydrogenase 2 (MDH2) in the posttanscriptional regulation of SCN1A expression under seizure condition. We identified that MDH2 was an RNA binding protein that could bind two of the four conserved regions in the 3' UTRs of SCN1A...
April 19, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28433708/toxicological-characterisation-of-two-novel-selective-aryl-hydrocarbon-receptor-modulators-in-sprague-dawley-rats
#17
Selma Mahiout, Jere Lindén, Javier Esteban, Ismael Sánchez-Pérez, Satu Sankari, Lars Pettersson, Helen Håkansson, Raimo Pohjanvirta
The aryl hydrocarbon receptor (AHR) mediates the toxicity of dioxins, but also plays important physiological roles. Selective AHR modulators, which elicit some effects imparted by this receptor without causing the marked toxicity of dioxins, are presently under intense scrutiny. Two novel such compounds are IMA-08401 (N-acetyl-N-phenyl-4-acetoxy-5-chloro-1,2-dihydro-1-methyl-2-oxo-quinoline-3-carboxamide) and IMA-07101 (N-acetyl-N-(4-trifluoromethylphenyl)-4-acetoxy-1,2-dihydro-5-methoxy-1-methyl-2-oxo-quinoline-3-carboxamide)...
April 19, 2017: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/28433694/bacteroidales-markers-for-microbial-source-tracking-in-southeast-asia
#18
Jean Pierre Nshimyimana, Mercedes C Cruz, R Janelle Thompson, Stefan Wuertz
The island city country of Singapore served as a model to validate the use of host-associated Bacteroidales 16S rRNA gene marker assays for identifying sources of fecal pollution in the urban tropical environment of Southeast Asia. A total of 295 samples were collected from sewage, humans, domesticated animals (cats, dogs, rabbits and chicken), and wild animals (birds, monkeys and wild boars). Samples were analyzed by real time PCR using five human-associated assays (HF183-SYBR Green, HF183, BacHum, BacH and B...
April 10, 2017: Water Research
https://www.readbyqxmd.com/read/28433684/activating-transcription-factor-6-dependent-sestrin-2-induction-ameliorates-er-stress-mediated-liver-injury
#19
Kyung Hwan Jegal, Sang Mi Park, Sam Seok Cho, Sung Hui Byun, Sae Kwang Ku, Sang Chan Kim, Sung Hwan Ki, Il Je Cho
Endoplasmic reticulum (ER) stress is characterized by an accumulation of misfolded proteins, and ER stress reduction is essential for maintaining tissue homeostasis. However, the molecular mechanisms that protect cells from ER stress are not completely understood. The present study investigated the role of sestrin 2 (SESN2) on ER stress and sought to elucidate the mechanism responsible for the hepatoprotective effect of SESN2 in vitro and in vivo. Treatment with tunicamycin (Tm) increased SESN2 protein and mRNA levels and reporter gene activity...
April 19, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28433629/a-novel-strategy-to-dissect-endogenous-gene-transcriptional-regulation-in-live-cells
#20
Wenqing Yang, Siliang Zhang, Yi Zhang, Xin Huang
Gene transcription is a central tenet of biology, traditionally measured by RT-PCR, microarray, or more recently, RNA sequencing. However, these measurements only provide a snapshot of the state of gene transcription and only represent an overall readout of complex transcriptional networks that regulate gene expression. In this report, we describe a novel strategy to dissect endogenous gene transcription regulation in live cells by knocking in a reporter gene, EGFP, under the control of the endogenous gene promoter, using the ARID1A gene as an example...
April 19, 2017: Biochemical and Biophysical Research Communications
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