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https://www.readbyqxmd.com/read/29241074/sall4-promotes-osteoblast-differentiation-by-deactivating-notch2-signaling
#1
Wei Yu, Dianming Jiang, Yu Shaobin, Fu Jiabin, Zhijun Li, Yuchi Wu, Yulong Wang
BACKGROUND: The Spalt-Like Transcription Factor 4 (SALL4) is reported to regulate cell proliferation, migration and invasion. However, the roles of SALL4 in osteoblast differentiation are unclear. This study was aimed to explore the underlying mechanism of SALL4 in osteoporosis. METHODS: Firstly, the expression of SALL4 was assessed in vivo and in vitro at various stages of development of rats (E14, E20, postnatal 2, 4, and 9 day) or different incubation time (0, 6, 9, 12 and 15 day) of C2C12 and MC3T3-E1 cells...
December 11, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29240946/chemistry-mechanism-and-clinical-status-of-antisense-oligonucleotides-and-duplex-rnas
#2
Xiulong Shen, David R Corey
RNA plays a central role in the expression of all genes. Because any sequence within RNA can be recognized by complementary base pairing, synthetic oligonucleotides and oligonucleotide mimics offer a general strategy for controlling processes that affect disease. The two primary antisense approaches for regulating expression through recognition of cellular RNAs are single-stranded antisense oligonucleotides and duplex RNAs. This review will discuss the chemical modifications and molecular mechanisms that make synthetic nucleic acid drugs possible...
December 12, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29240854/upregulation-of-extracellular-matrix-genes-corroborates-clinical-efcacy-of-human-fibroblast-derived-growth-factors-in-skin-rejuvenation
#3
Kuniko Kadoya, Elizabeth T Makino, Lily I Jiang, Michael Bachelor, Robin Chung, Priscilla Tan, Tsing Cheng, Gail K Naughton, Rahul C Mehta
<p>Skin care products may use various active ingredients to support skin rejuvenation including growth factors and other molecules that help to regenerate extracellular matrix (ECM) and promote skin repair. The biological effect of skin care products with a strong anti-aging claim was assessed in gene expression analyses using an in vitro human skin model. Application of products containing human fbroblast-derived growth factors resulted in signifcant upregulation of genes encoding ECM components including collagens and elas-tin...
December 1, 2017: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/29240841/microcystin-lr-does-not-induce-alterations-to-transcriptomic-or-metabolomic-profiles-of-a-model-heterotrophic-bacterium
#4
Robbie M Martin, Stephen P Dearth, Gary R LeCleir, Shawn R Campagna, Elizabeth M Fozo, Erik R Zinser, Steven W Wilhelm
Microcystins are secondary metabolites produced by several freshwater, bloom-forming cyanobacterial species. Microcystin-producing cyanobacteria co-occur with a complex community of heterotrophic bacteria. Though conflicting, studies suggest that microcystins affect the physiology of heterotrophic bacteria by inducing oxidative stress and increasing cell envelope permeability. Based on these observations, we hypothesized that exposure to microcystin should induce differential expression in genes responding to oxidative and envelope stress and trigger shifts in metabolite pools...
2017: PloS One
https://www.readbyqxmd.com/read/29240775/ornithine-decarboxylase-as-a-therapeutic-target-for-endometrial-cancer
#5
Hong Im Kim, Chad R Schultz, Andrea L Buras, Elizabeth Friedman, Alyssa Fedorko, Leigh Seamon, Gadisetti V R Chandramouli, G Larry Maxwell, André S Bachmann, John I Risinger
Ornithine Decarboxylase (ODC) a key enzyme in polyamine biosynthesis is often overexpressed in cancers and contributes to polyamine-induced cell proliferation. We noted ubiquitous expression of ODC1 in our published endometrial cancer gene array data and confirmed this in the cancer genome atlas (TCGA) with highest expression in non-endometrioid, high grade, and copy number high cancers, which have the worst clinical outcomes. ODC1 expression was associated with worse overall survival and increased recurrence in three endometrial cancer gene expression datasets...
2017: PloS One
https://www.readbyqxmd.com/read/29240768/the-association-between-the-nicotinic-acetylcholine-receptor-%C3%AE-4-subunit-gene-chrna4-rs1044396-and-internet-gaming-disorder-in-korean-male-adults
#6
Jo-Eun Jeong, Je-Keun Rhee, Tae-Min Kim, Su-Min Kwak, Sol-Hee Bang, Hyun Cho, Young-Hoon Cheon, Jung Ah Min, Gil Sang Yoo, Kyudong Kim, Jung-Seok Choi, Sam-Wook Choi, Dai-Jin Kim
The primary aim of this study was to investigate the genetic predisposition of Internet gaming disorder (IGD), and the secondary aim was to compare the results to those of alcohol dependence (AD). Two independent case-control studies were conducted. A total of 30 male participants with IGD, diagnosed according to the 5th edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) criteria, and 30 sex-matched controls participated in study 1. We designed targeted exome sequencing (TES) to test for 72 candidate genes that have been implicated in the pathogenesis of addiction...
2017: PloS One
https://www.readbyqxmd.com/read/29240764/selection-for-long-and-short-sleep-duration-in-drosophila-melanogaster-reveals-the-complex-genetic-network-underlying-natural-variation-in-sleep
#7
Susan T Harbison, Yazmin L Serrano Negron, Nancy F Hansen, Amanda S Lobell
Why do some individuals need more sleep than others? Forward mutagenesis screens in flies using engineered mutations have established a clear genetic component to sleep duration, revealing mutants that convey very long or short sleep. Whether such extreme long or short sleep could exist in natural populations was unknown. We applied artificial selection for high and low night sleep duration to an outbred population of Drosophila melanogaster for 13 generations. At the end of the selection procedure, night sleep duration diverged by 9...
December 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29240584/dermatofibrosarcoma-protuberans-of-distal-extremities-and-acral-sites-a-clinicopathologic-analysis-of-27-cases
#8
Kabeer K Shah, Jonathan B McHugh, Andrew L Folpe, Rajiv M Patel
Dermatofibrosarcoma protuberans (DFSP) of the distal extremities and acral sites are extremely rare and incompletely characterized. Twenty-seven DFSP occurring in these sites were retrieved from our collective archives and reevaluated. Tumors occurred in 16 males and 11 females. Median age at presentation was 42.5 years (range, 7 to 78 y). Lesions involved the foot (18 with 6 in the toes and 2 on the plantar foot), distal ankle (4), hand (4 with 2 in the thumbs), and wrist (1). All cases showed predominantly classic DFSP morphology and were diffusely CD34 positive...
December 7, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29240240/ultrasound-triggered-effects-of-the-microbubbles-coupled-to-gdnf-and-nurr1-loaded-pegylated-liposomes-in-a-rat-model-of-parkinson-s-disease
#9
Peijian Yue, Lin Gao, Xuejing Wang, Xuebing Ding, Junfang Teng
The purpose of this study was to investigate ultrasound-triggered effects of the glial cell line-derived neurotrophic factor (GDNF) + nuclear receptor-related factor 1 (Nurr1)-polyethylene glycol (PEG)ylated liposomes-coupled microbubbles (PLs-GDNF+Nurr1-MBs) on behavioral impairment and neuron loss in a rat model of Parkinson's disease (PD). The unloaded PEGylated liposomes-coupled microbubbles (PLs-MBs) were characterized for zeta potential, particle size, and concentration. 6-hydroxydopamine (6-OHDA) was used to establish the PD rat model...
December 14, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/29240237/non-isolated-diaphragmatic-hernia-in-simpson-golabi-behmel-syndrome
#10
Karen Chong, Maha Saleh, Marie Injeyan, Ioana Miron, Katherine Fong, Patrick Shannon
OBJECTIVE: Congenital diaphragmatic hernia (CDH) is associated with Simpson-Golabi-Behmel syndrome (SGBS), but few cases diagnosed prenatally have been reported. The aim of this series is to highlight the association of non-isolated CDH with SGBS type I on prenatal ultrasound and emphasize the importance of genetic testing, fetal autopsy and family history in confirming this diagnosis. METHOD: Retrospective review of three cases of SGBS type I in a single tertiary care centre...
December 14, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29239792/francisella-tularensis-and-other-bacteria-in-hares-and-ticks-in-north-rhine-westphalia-germany
#11
Herbert Tomaso, Peter Otto, Martin Peters, Jochen Süss, Axel Karger, Heinz Schamoni, Eric Zuchantke, Helmut Hotzel
Tularemia is a zoonotic disease caused by the bacterium Francisella tularensis. The disease can be transmitted to humans through contact with infected animals such as the European brown hare (Lepus europaeus) and ticks as vectors. The aim of this study was to isolate F. tularensis from ticks and hares in North Rhine-Westphalia using cysteine heart agar to determine their genetic relatedness and to identify other bacteria that grow on this medium. 848 European brown hares and 1556 questing ticks (all Ixodes ricinus) from forests were tested using cultivation and MALDI-TOF mass spectrometry or partial 16S rRNA gene sequencing...
November 21, 2017: Ticks and Tick-borne Diseases
https://www.readbyqxmd.com/read/29239282/generation-of-human-induced-pluripotent-stem-cells-from-wolfram-syndrome-type-2-patients-bearing-the-c-103-1g-a-cisd2-mutation-for-disease-modeling
#12
Alberto La Spada, Aikaterini Ntai, Stefano Genovese, Maurizio Rondinelli, Pasquale De Blasio, Ida Biunno
Wolfram syndrome (WFS) is a rare autosomal premature aging syndrome that shows signs of diabetes mellitus (DM), optic atrophy (OA) and deafness in addition to central nervous system and endocrine complications. The frequent form of WFS, type 1 (WFS1), harbours causative mutations in the WFS1 gene, while the rare form or type 2 (WFS2), involves CISD2. Mutations in these two genes are recognized by a subset of variable clinical symptoms and a set of overlapping features. Here we report on the generation of stable human induced pluripotent stem cells (hiPSCs) derived from primary fibroblasts of a previously reported Italian family with CISD2 mutation (c...
December 14, 2017: Stem Cells and Development
https://www.readbyqxmd.com/read/29239255/nonfunctional-pancreatic-endocrine-tumor-in-the-peripancreatic-region-in-a-chinese-patient-with-multiple-endocrine-neoplasia-type-1
#13
Bao-Ping Wang, Wei-Jun Tian, Jie Zhang, Chang-Xin Jiang, Hui-Qi Qu, Mei Zhu
Nonfunctional pancreatic neuroendocrine tumors (NF-pNETs) in patients with multiple endocrine neoplasia type 1 (MEN1), which results from a mutation in the MEN1 gene, are commonly small, multiple tumors located in the pancreatic head and inside the pancreatic parenchyma. We herein describe a 35-year-old woman with bone pain and a 7-year history of a prolactinoma. She was clinically diagnosed with MEN1 based on the presence of the prolactinoma and parathyroid hyperplasia. Abdominal computed tomography revealed a 5-cm mass close to the splenic hilum...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/29239044/pathology-and-genetics-of-phaeochromocytoma-and-paraganglioma
#14
REVIEW
John Turchini, Veronica K Y Cheung, Arthur S Tischler, Ronald R De Krijger, Anthony J Gill
Phaeochromocytoma and paraganglioma (PHEO/PGL) are rare tumours with an estimated annual incidence of 3 per million. Advances in molecular understanding have led to the recognition that at least 30-40% arise in the setting of hereditary disease. Germline mutations in the succinate dehydrogenase genes SDHA, SDHB, SDHC, SDHD and SDHAF2 are the most prevalent of the more than 19 hereditary genetic abnormalities which have been reported. It is therefore recommended that, depending on local resources and availability, at least some degree of genetic testing should be offered to all PHEO/PGL patients, including those with clinically sporadic disease...
January 2018: Histopathology
https://www.readbyqxmd.com/read/29238920/qtl-analysis-of-falling-number-and-seed-longevity-in-wheat-triticum-aestivum-l
#15
Andreas Börner, Manuela Nagel, Monika Agacka-Mołdoch, Peter Ulrich Gierke, Michael Oberforster, Theresa Albrecht, Volker Mohler
Pre-harvest sprouting (PHS) and seed longevity (SL) are complex biological processes of major importance for agricultural production. In the present study, a recombinant inbred line (RIL) population derived from a cross between the German winter wheat (Triticum aestivum L.) cultivars History and Rubens was used to identify genetic factors controlling these two physiological seed traits. A falling number (FN) test was employed to evaluate PHS, while SL was measured using a germination test (and the speed of germination) after controlled deterioration...
December 14, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29238889/immunomodulatory-effects-of-rhodomyrtus-tomentosa-leaf-extract-and-its-derivative-compound-rhodomyrtone-on-head-kidney-macrophages-of-rainbow-trout-oncorhynchus-mykiss
#16
Pinanong Na-Phatthalung, Mariana Teles, Supayang Piyawan Voravuthikunchai, Lluís Tort, Camino Fierro-Castro
Rhodomyrtus tomentosa is a medicinal plant that shows biological effects including immunomodulatory activity on human and other mammals but not in fish. In this study, we evaluated the in vitro immunomodulatory effects of R. tomentosa leaf extract and its active compound, rhodomyrtone, on the immune responses, using rainbow trout (Oncorhynchus mykiss) head kidney (HK) macrophages as a model. The tested immune functions included the expression of genes involved in innate immune and inflammatory responses and the production of reactive oxygen species (ROS)...
December 13, 2017: Fish Physiology and Biochemistry
https://www.readbyqxmd.com/read/29238803/noninvasive-gene-expression-testing-in-amelanotic-melanoma
#17
Maria V Childs
No abstract text is available yet for this article.
December 13, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/29238799/association-of-clinical-dermoscopic-and-histopathologic-findings-with-gene-expression-in-patients-with-balloon-cell-melanoma
#18
Ben J Friedman, Rebecca Stoner, Joya Sahu, Jason B Lee
Importance: Balloon cell melanoma is a rare subtype of melanoma that is underrecognized clinically and is challenging to diagnose on histologic studies. Objective: To further characterize the clinical, dermoscopic, and histopathologic features of balloon cell melanomas and their correlation to gene expression. Design, Setting, and Participants: Case series of 2 patients with balloon cell melanoma whose medical records were retrieved from the database of Thomas Jefferson University Dermatopathology Center in Philadelphia, Pennsylvania...
December 13, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/29238678/a-study-of-effect-of-consanguinity-on-cochlear-morphology-in-patients-with-congenital-bilateral-profound-sensorineural-hearing-loss
#19
Y Kavitha, K Sabarigirish, Upendra Kumar Joish, Sanjeev Saxena, Angshuman Dutta
Consanguinity has been considered as one of the risk factors predisposing to the development of congenital hearing loss. Effect of consanguinity on cochlear morphology has been subject of speculation, though many studies have provided insight into functional aspect of cochlea. This study was conducted to know the effect of consanguinity on cochlear morphology, if any. A prospective, observational study, including prelingually deaf children with bilateral profound sensorineural hearing loss who are registered as candidates for cochlear implantation at a tertiary care centre, was conducted...
December 2017: Indian Journal of Otolaryngology and Head and Neck Surgery
https://www.readbyqxmd.com/read/29238626/c-kit-positive-cardiac-outgrowth-cells-demonstrate-better-ability-for-cardiac-recovery-against-ischemic-myopathy
#20
Chuan Li, Satoshi Matsushita, Zhengqing Li, Jianjun Guan, Atsushi Amano
Objective: Resident cardiac stem cells are expected to be a therapeutic option for patients who suffer from severe heart failure. However, uncertainty remains over whether sorting cells for c-kit, a stem cell marker, improves therapeutic outcomes. Materials and methods: Cardiac outgrowth cells cultured from explants of rat heart atrium were sorted according to their positivity (+) or negativity (-) for c-kit. These cells were exposed to hypoxia for 3 d, and subsequently harvested for mRNA expression measurement...
October 2017: Journal of Stem Cell Research & Therapy
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