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https://www.readbyqxmd.com/read/28329999/bilateral-cystic-coloboma-with-microphtalmos-and-eyelid-agenesis-us-and-mri-findings
#1
Youssef Omor, Benjamin Dhaene, Veronique Toppet, Marie Cassart, Patrice Jissendi-Tchofo
INTRODUCTION: The combination of bilateral microphthalmos, cystic coloboma and eyelid agenesis is rare. The definite diagnosis of this malformation is established by fundoscopic examination and confirmed by imaging modalities such as ultrasonography (US) and magnetic resonance imaging (MRI). This disorder may be associated with specific chromosomal abnormalities. CASE REPORT: A 1-week-old male newborn was referred for bilateral eyelid agenesis. He was born at term by caesarean for foetal distress, after an uneventful gestation...
March 2017: Journal of Neuroradiology. Journal de Neuroradiologie
https://www.readbyqxmd.com/read/28328955/treatment-monitoring-in-metastatic-colorectal-cancer-patients-by-quantification-and-kras-genotyping-of-circulating-cell-free-dna
#2
Andreas W Berger, Daniel Schwerdel, Hanna Welz, Ralf Marienfeld, Stefan A Schmidt, Alexander Kleger, Thomas J Ettrich, Thomas Seufferlein
Treatment of metastatic colorectal cancer (CRC) has continuously improved over the last decade. However, disease monitoring remains underdeveloped and mostly dependent on imaging e.g. RECIST 1.1 criteria. The genetic landscape of individual cancers and subsequently occurring treatment-induced evolution remain neglected in current surveillance strategies. Novel biomarkers demand minimally invasive and repetitive tracking of the cancer mutagenome for therapy stratification and to make prognostic predictions. Carcinoembryonic antigen (CEA), a routinely used tumor marker for CRC, does not meet these goals and thus prevents its use as a reliable monitoring tool...
2017: PloS One
https://www.readbyqxmd.com/read/28327978/a-dataset-of-images-and-morphological-profiles-of-30-000-small-molecule-treatments-using-the-cell-painting-assay
#3
Mark-Anthony Bray, Sigrun M Gustafsdottir, Vebjorn Ljosa, Shantanu Singh, Katherine L Sokolnicki, Joshua A Bittker, Nicole E Bodycombe, Vlado Dancík, Thomas P Hasaka, C Suk-Yee Hon, Melissa M Kemp, Kejie Li, Deepika Walpita, Mathias J Wawer, Todd R Golub, Stuart L Schreiber, Paul A Clemons, Alykhan F Shamji, Anne E Carpenter
Background: Large-scale image sets acquired by automated microscopy of perturbed samples enable a detailed comparison of cell states induced by each perturbation, such as a small molecule from a diverse library. Highly multiplexed measurements of cellular morphology can be extracted from each image and subsequently mined for a number of applications. Findings: This microscopy data set includes 919,874 five-channel fields of view representing 30,616 tested compounds, available at 'The Cell Image Library' repository...
January 7, 2017: GigaScience
https://www.readbyqxmd.com/read/28324693/cortical-complexity-in-bipolar-disorder-applying-a-spherical-harmonics-approach
#4
Igor Nenadic, Rachel A Yotter, Maren Dietzek, Kerstin Langbein, Heinrich Sauer, Christian Gaser
Recent studies using surface-based morphometry of structural magnetic resonance imaging data have suggested that some changes in bipolar disorder (BP) might be neurodevelopmental in origin. We applied a novel analysis of cortical complexity based on fractal dimensions in high-resolution structural MRI scans of 18 bipolar disorder patients and 26 healthy controls. Our region-of-interest based analysis revealed increases in fractal dimensions (in patients relative to controls) in left lateral orbitofrontal cortex and right precuneus, and decreases in right caudal middle frontal, entorhinal cortex, and right pars orbitalis, and left fusiform and posterior cingulate cortices...
February 21, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28324612/quantitative-image-analysis-of-single-molecule-mrna-dynamics-in-living-cells
#5
José Rino, Ana C de Jesus, Maria Carmo-Fonseca
Single mRNA molecules can be imaged in living cells by a method that consists in genetically inserting binding sites for a bacteriophage protein in the gene of interest. The resulting reporter transgene is then integrated in the genome of cells that express the phage protein fused to a fluorescent tag. Upon transcription, binding of the fluorescent protein to its target sequence makes the RNA visible. With this approach it is possible to track, in real time, the life cycle of a precursor mRNA at the site of transcription in the nucleus and transport of mature mRNA to the cytoplasm...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28324602/imaging-of-brain-slices-with-a-genetically-encoded-voltage-indicator
#6
Peter Quicke, Samuel J Barnes, Thomas Knöpfel
Functional fluorescence microscopy of brain slices using voltage sensitive fluorescent proteins (VSFPs) allows large scale electrophysiological monitoring of neuronal excitation and inhibition. We describe the equipment and techniques needed to successfully record functional responses optical voltage signals from cells expressing a voltage indicator such as VSFP Butterfly 1.2. We also discuss the advantages of voltage imaging and the challenges it presents.
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28324303/subtypes-of-parkinson-s-disease-what-do-they-tell-us-about-disease-progression
#7
REVIEW
Seyed-Mohammad Fereshtehnejad, Ronald B Postuma
Parkinson's disease is a widely heterogeneous disorder with a broad list of motor and nonmotor manifestations. Identifying subtypes of Parkinson's disease is one of the top clinical and research priorities. This review aims to summarize the most valid conventional and recent subtyping solutions that have been introduced so far and to update our current knowledge with recent discoveries on the association between subtypes and disease progression. We also discuss the challenges of subtyping in the context of Parkinson's disease, stability of the subtypes over time, and potential clinical implications...
April 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28324111/arap1-deficiency-causes-photoreceptor-degeneration-in-mice
#8
Ala Moshiri, Devin Humpal, Brian C Leonard, Denise M Imai, Addy Tham, Lynette Bower, Dave Clary, Thomas M Glaser, K C Kent Lloyd, Christopher J Murphy
Purpose: Small guanosine triphosphatase (GTPase) ADP-ribosylation factors (Arfs) regulate membrane traffic and actin reorganization under the control of GTPase-activating proteins (GAPs). Arap1 is an Arf-directed GAP that inhibits the trafficking of epidermal growth factor receptor (EGFR) to the early endosome, but the diversity of its functions is incompletely understood. The aim of this study was to determine the role of Arap1 in the mammalian retina. Methods: Genetically engineered Arap1 knockout mice were screened for ocular abnormalities in the National Institutes of Health Knockout Mouse Production and Phenotyping (KOMP2) Project...
March 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28324107/functional-characterization-of-transient-receptor-potential-trp-channel-c5-in-female-murine-gonadotropes
#9
Andreas Beck, Viktoria Götz, Sen Qiao, Petra Weissgerber, Veit Flockerzi, Marc Freichel, Ulrich Boehm
Gonadotrope cells in the anterior pituitary gland secrete gonadotropins regulating gonadal function in mammals. Recent results have implicated Transient Receptor Potential (TRP) cation channels in pituitary physiology, however, if and how TRP channels contribute to gonadotrope function is not known. Here we report that 14 out of 28 TRP channels encoded in the mouse genome are expressed in murine gonadotropes with highest expression levels found for TRPC5 in juvenile females. We show that TRP channel expression in these cells exhibits considerable plasticity and that it depends on gender as well as on the developmental and hormonal status of the animal...
January 30, 2017: Endocrinology
https://www.readbyqxmd.com/read/28323683/genetic-alzheimer-disease-and-sporadic-dementia-with-lewy-bodies-a-comorbidity-presenting-as-primary-progressive-aphasia
#10
Tereza Picková, Radoslav Matěj, Ondrej Bezdicek, Jiří Keller, Julie van der Zee, Christine Van Broeckhoven, Zsolt Cséfalvay, Robert Rusina
We report a 44-year-old woman, with a family history of early-onset dementia, presenting with primary progressive aphasia. This clinically variable syndrome has multiple underlying pathologies, and correlations between clinical manifestations and postmortem neuropathologic findings are controversial. Our patient suffered worsening language impairment with major word-finding difficulties but preserved comprehension. She also developed episodic memory impairment. Her condition progressed to dementia with behavioral changes...
March 2017: Cognitive and Behavioral Neurology: Official Journal of the Society for Behavioral and Cognitive Neurology
https://www.readbyqxmd.com/read/28323341/groupwise-envelope-models-for-imaging-genetic-analysis
#11
Yeonhee Park, Zhihua Su, Hongtu Zhu
Motivated by searching for associations between genetic variants and brain imaging phenotypes, the aim of this article is to develop a groupwise envelope model for multivariate linear regression in order to establish the association between both multivariate responses and covariates. The groupwise envelope model allows for both distinct regression coefficients and distinct error structures for different groups. Statistically, the proposed envelope model can dramatically improve efficiency of tests and of estimation...
March 21, 2017: Biometrics
https://www.readbyqxmd.com/read/28322981/imaging-genetics-in-autism-spectrum-disorders-linking-genetics-and-brain-imaging-in-the-pursuit-of-the-underlying-neurobiological-mechanisms
#12
REVIEW
Marc Fakhoury
Autism spectrum disorders (ASD) include a wide range of heterogeneous neurodevelopmental conditions that affect an individual in several aspects of social communication and behavior. Recent advances in molecular genetic technologies have dramatically increased our understanding of ASD etiology through the identification of several autism risk genes, most of which serve important functions in synaptic plasticity and protein synthesis. However, despite significant progress in this field of research, the characterization of the neurobiological mechanisms by which common genetic risk variants might operate to give rise to ASD symptomatology has proven to be far more difficult than expected...
March 16, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28322432/bilateral-congenital-deafness-what-investigations-should-be-performed
#13
Nicolas Gürtler, Claudine Gysin, Nevenka Schmid, Claudia Pieren, Mattheus Vischer, Stefan Schumacher, Peter Oppermann, Daniel Leuba, Dorothée Veraguth
BACKGROUND: The introduction of newborn hearing screening has led to earlier identification of children with congenital sensorineural hearing loss (SNHL). Aetiological clarification offers several benefits. There is currently a lack of agreement on which examinations should be recommended. OBJECTIVE: Descriptive review of the literature reporting investigations performed to establish the aetiology of congenital SNHL and comparison of the management policy in Swiss referral centres...
March 21, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/28322272/neuroanatomic-epigenetic-and-genetic-differences-in-monozygotic-twins-discordant-for-attention-deficit-hyperactivity-disorder
#14
Y-C Chen, G Sudre, W Sharp, F Donovan, S C Chandrasekharappa, N Hansen, L Elnitski, P Shaw
The study of monozygotic twins discordant for attention deficit hyperactivity disorder can elucidate mechanisms that contribute to the disorder, which affects ~7% of children. First, using in vivo neuroanatomic imaging on 14 pairs of monozygotic twins (mean age 9.7, s.d. 1.9 years), we found that discordance for the disorder is mirrored by differing dimensions of deep brain structures (the striatum and cerebellum), but not the cerebral cortex. Next, using whole-blood DNA from the same twins, we found a significant enrichment of epigenetic differences in genes expressed in these 'discordant' brain structures...
March 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28321325/assessing-risk-of-disease-progression-and-pharmacological-management-of-autosomal-dominant-polycystic-kidney-disease-a-canadian-expert-consensus
#15
Steven Soroka, Ahsan Alam, Micheli Bevilacqua, Louis-Philippe Girard, Paul Komenda, Rolf Loertscher, Philip McFarlane, Sanjaya Pandeya, Paul Tam, Daniel G Bichet
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disorder worldwide. The disease is characterized by renal cysts and progressive renal failure due to progressive enlargement of cysts and renal fibrosis. An estimated 45% to 70% of patients with ADPKD progress to end-stage renal disease by age 65 years. Although both targeted and nontargeted therapies have been tested in patients with ADPKD, tolvaptan is currently the only pharmacological therapy approved in Canada for the treatment of ADPKD...
2017: Canadian Journal of Kidney Health and Disease
https://www.readbyqxmd.com/read/28321066/gilbert-syndrome-with-concomitant-hereditary-spherocytosis-presenting-with-moderate-unconjugated-hyperbilirubinemia
#16
Mitsuhiko Aiso, Minami Yagi, Atsushi Tanaka, Kotaro Miura, Ryo Miura, Toshihiko Arizumi, Yoriyuki Takamori, Sayuri Nakahara, Yoshihiro Maruo, Hajime Takikawa
We experienced a case of a 19-year-old man with Gilbert syndrome with concomitant hereditary spherocytosis. The patient presented with moderate unconjugated hyperbilirubinemia, and inherited etiology was strongly suspected. The diagnosis of Gilbert syndrome was confirmed by the genetic analysis of the UGT1A1 gene, demonstrating UGT1A1*28 and compound heterozygote UGT1A1*6. In addition, since the laboratory findings and imaging studies revealed lysemia as well as gallstone and splenomegaly, a diagnosis of hereditary spherocytosis was made as a comorbidity...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28319560/rash-diagnostics-an-update-on-the-diagnosis-of-allergic-rashes
#17
Corinne Savides Happel
PURPOSE OF REVIEW: The purpose of this review is to summarize recent research regarding the diagnosis of allergic rashes and to suggest future directions for the promotion of accurate diagnosis and endotype specification. RECENT FINDINGS: Multiple cohort studies demonstrate that with appropriate clinical evaluation, drug allergy labels can be removed in up to 90% of cases. Genetic tests can predict severe adverse cutaneous drug reactions in some cases and in vitro tests are being sought to identify causative drugs in others...
March 17, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28318334/development-of-lactococcus-lactis-encoding-fluorescent-proteins-gfp-mcherry-and-irfp-regulated-by-the-nisin-controlled-gene-expression-system
#18
E Martinez-Jaramillo, R Garza-Morales, M J Loera-Arias, O Saucedo-Cardenas, R Montes-de-Oca-Luna, L R McNally, J G Gomez-Gutierrez
Fluorescent proteins are useful reporter molecules for a variety of biological systems. We present an alternative strategy for cloning reporter genes that are regulated by the nisin-controlled gene expression (NICE) system. Lactoccocus lactis was genetically engineered to express green fluorescent protein (GFP), mCherry or near-infrared fluorescent protein (iRFP). The reporter gene sequences were optimized to be expressed by L. lactis using inducible promoter pNis within the pNZ8048 vector. Expression of constructions that carry mCherry or GFP was observed by fluorescence microscopy 2 h after induction with nisin...
March 20, 2017: Biotechnic & Histochemistry: Official Publication of the Biological Stain Commission
https://www.readbyqxmd.com/read/28317907/analysis-of-spatial-heterogeneity-in-normal-epithelium-and-preneoplastic-alterations-in-mouse-prostate-tumor-models
#19
Mira Valkonen, Pekka Ruusuvuori, Kimmo Kartasalo, Matti Nykter, Tapio Visakorpi, Leena Latonen
Cancer involves histological changes in tissue, which is of primary importance in pathological diagnosis and research. Automated histological analysis requires ability to computationally separate pathological alterations from normal tissue with all its variables. On the other hand, understanding connections between genetic alterations and histological attributes requires development of enhanced analysis methods suitable also for small sample sizes. Here, we set out to develop computational methods for early detection and distinction of prostate cancer-related pathological alterations...
March 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28317720/non-destructive-determination-and-visualisation-of-insoluble-and-soluble-dietary-fibre-contents-in-fresh-cut-celeries-during-storage-periods-using-hyperspectral-imaging-technique
#20
Ling Yan, Chuanwu Xiong, Hao Qu, Changhong Liu, Wei Chen, Lei Zheng
The feasibility of using hyperspectral imaging technique to non-destructively determine insoluble dietary fibre (IDF) and soluble dietary fibre (SDF) contents in fresh-cut celeries and visualise their spatial distribution during 28-day storage periods was investigated. Genetic synergy interval partial least square (GA-Si-PLS) algorithm was developed to establish calibration model, which, superior to the PLS and Si-PLS developed models, achieved the prediction performance with Rp of 0.9638 and 0.9756, and RMSEP of 1...
August 1, 2017: Food Chemistry
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