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imaging genetics

Claudiu T Supuran
Although the role of carbonic anhydrases (CAs, EC in metabolism is well-established, pharmacological applications of this phenomenon started to be considered only recently. In organisms all over the phylogenetic tree, the seven CA genetic families known to date are involved in biosynthetic processes and pH modulation, which may influence metabolism in multiple ways, with both processes being amenable to pharmacologic intervention. CA inhibitors possess antiobesity action directly by inhibiting lipogenesis, whereas the hypoxic tumor metabolism is highly controlled by the transmembrane isoforms CA IX and XII, which contribute to the acidic extracellular environment of tumors and supply bicarbonate for their high proliferation rates...
March 21, 2018: Metabolites
Meghan R Swanson, Mark D Shen, Jason J Wolff, Jed T Elison, Robert W Emerson, Martin A Styner, Heather C Hazlett, Kinh Truong, Linda R Watson, Sarah Paterson, Natasha Marrus, Kelly N Botteron, Juhi Pandey, Robert T Schultz, Stephen R Dager, Lonnie Zwaigenbaum, Annette M Estes, Joseph Piven
BACKGROUND: Younger siblings of children with autism spectrum disorder (ASD) are themselves at increased risk for ASD and other developmental concerns. It is unclear if infants who display developmental concerns, but are unaffected by ASD, share similar or dissimilar behavioral and brain phenotypes to infants with ASD. Most individuals with ASD exhibit heterogeneous difficulties with language, and their receptive-expressive language profiles are often atypical. Yet, little is known about the neurobiology that contributes to these language difficulties...
November 2017: Biological Psychiatry: Cognitive Neuroscience and Neuroimaging
C De La Fuente Canto, D I Kalogiros, M Ptashnyk, T S George, R Waugh, A G Bengough, J Russell, L X Dupuy
Discoveries on the genetics of resource acquisition efficiency are limited by the ability to measure plant roots in sufficient number and adequate genotypic variability. This paper presents a root phenotyping study that explores ways to combine live imaging and computer algorithms for model-based extraction of root growth parameters. The study is based on a subset of barley Recombinant Chromosome Substitution Lines (RCSLs) and a combinatorial approach was designed for fast identification of the regions of the genome that contribute the most to variations in root system architecture (RSA)...
March 17, 2018: Journal of Theoretical Biology
Chunyao Zhou, Yongheng Wang, Xing Liu, Yuchao Liang, Ziwen Fan, Tao Jiang, Yinyan Wang, Lei Wang
BACKGROUND: The newly proposed putamen classification system shows good prognostic value in patients with insular LGGs, yet no study towards the molecular profiles of putamen involved LGGs has been proposed. METHODS: Clinical information and imaging data of patients diagnosed with insular low-grade gliomas were collected retrospectively. Genetic information of the 34 tumors was assessed using RNA-sequencing. Gene set enrichment analysis was further performed to identify the genes showing differential expression between putamen-involved tumors and putamen non-involved tumors...
March 19, 2018: Journal of Neuro-oncology
Ping Li, Sungyong You, Christopher Nguyen, Yanping Wang, Jayoung Kim, Deepika Sirohi, Asha Ziembiec, Daniel Luthringer, Shih-Chieh Lin, Timothy Daskivich, Jonathan Wu, Michael R Freeman, Rola Saouaf, Debiao Li, Hyung L Kim
MRI is used to image prostate cancer and target tumors for biopsy or therapeutic ablation. The objective was to understand the biology of tumors not visible on MRI that may go undiagnosed and untreated. Methods: Prostate cancers visible or invisible on multiparametric MRI were macrodissected and examined by RNAseq. Differentially expressed genes (DEGs) based on MRI visibility status were cross-referenced with publicly available gene expression databases to identify genes associated with disease progression...
2018: Theranostics
Dandan Zhao, Shaoqian Zhao, Xiao Wang, Mingbo Su, Wen Liu, Qinyun Ma, Jie Hong, Weiqiong Gu, Jingya Li, Ruixin Liu, Guang Ning, Jiqiu Wang, Yifei Zhang
The clinical application of dipeptidyl peptidase IV inhibitors (DPP4i) increasing active glucagon-like peptide-1 (AGLP-1) levels has been linked to pancreatitis, pancreatic tumors, and cardiovascular events. However, DPP4 mutations in humans or the long-term outcomes of high glucagon-like peptide-1 (GLP-1) level exposure have not been reported. A trio family with a proband showing an extremely high AGLP-1 level [defined here as hyperglipemia (hyper-glucagon-like peptide-1-emia)] were conducted whole-exome sequencing for potential pathogenic genetic defects...
2018: Frontiers in Endocrinology
Joshua J Todd, Muslima S Razaqyar, Jessica W Witherspoon, Tokunbor A Lawal, Ami Mankodi, Irene C Chrismer, Carolyn Allen, Mary D Meyer, Anna Kuo, Monique S Shelton, Kim Amburgey, Dmitriy Niyazov, Pierre Fequiere, Carsten G Bönnemann, James J Dowling, Katherine G Meilleur
The ryanodine receptor 1-related congenital myopathies ( RYR1 -RM) comprise a spectrum of slow, rare neuromuscular diseases. Affected individuals present with a mild-to-severe symptomatology ranging from proximal muscle weakness, hypotonia and joint contractures to scoliosis, ophthalmoplegia, and respiratory involvement. Although there is currently no FDA-approved treatment for RYR1- RM, our group recently conducted the first clinical trial in this patient population (NCT02362425). This study aimed to characterize novel RYR1 variants with regard to genetic, laboratory, muscle magnetic resonance imaging (MRI), and clinical findings...
2018: Frontiers in Neurology
Johannes Birtel, Tobias Eisenberger, Martin Gliem, Philipp L Müller, Philipp Herrmann, Christian Betz, Diana Zahnleiter, Christine Neuhaus, Steffen Lenzner, Frank G Holz, Elisabeth Mangold, Hanno J Bolz, Peter Charbel Issa
Macular and cone/cone-rod dystrophies (MD/CCRD) demonstrate a broad genetic and phenotypic heterogeneity, with retinal alterations solely or predominantly involving the central retina. Targeted next-generation sequencing (NGS) is an efficient diagnostic tool for identifying mutations in patient with retinitis pigmentosa, which shows similar genetic heterogeneity. To detect the genetic causes of disease in patients with MD/CCRD, we implemented a two-tier procedure consisting of Sanger sequencing and targeted NGS including genes associated with clinically overlapping conditions...
March 19, 2018: Scientific Reports
Caroline M Nievergelt, Allison E Ashley-Koch, Shareefa Dalvie, Michael A Hauser, Rajendra A Morey, Alicia K Smith, Monica Uddin
Posttraumatic stress disorder (PTSD) after exposure to a traumatic event is a highly prevalent psychiatric disorder. Heritability estimates from twin studies as well as from recent molecular data (single nucleotide polymorphism-based heritability) indicate moderate to high heritability, yet robust genetic variants for PTSD have not yet been identified and the genetic architecture of this polygenic disorder remains largely unknown. To date, fewer than 10 large-scale genome-wide association studies of PTSD have been published, with findings that highlight the unique challenges for PTSD genomics, including a complex diagnostic entity with contingency of PTSD diagnosis on trauma exposure and the large genetic diversity of the study populations...
February 2, 2018: Biological Psychiatry
Julia R Schneider, Deborah R Shatzkes, Stephen C Scharf, Tristan M Tham, Kay O Kulason, François-Alexandre Buteau, Michela Del Prete, Shamik Chakraborty, Todd A Anderson, Saeed Asiry, Jean-Mathieu Beauregard, David J Langer, Peter D Costantino, John A Boockvar
BACKGROUND AND IMPORTANCE: Olfactory neuroblastoma, also known as esthesioneuroblastoma (ENB), is a malignant neoplasm with an unpredictable behavior. Currently, the widely accepted treatment is inductive chemotherapy, with or without surgery, followed by radiotherapy. Since data on genetics and molecular alterations of ENB are lacking, there is no standard molecularly targeted therapy. However, ENB commonly expresses the somatostatin receptor (SSTR) that is also expressed by neuroendocrine tumors...
March 14, 2018: Operative Neurosurgery (Hagerstown, Md.)
Holger Fehlauer, Adam L Nekimken, Anna A Kim, Beth L Pruitt, Miriam B Goodman, Michael Krieg
One central goal of mechanobiology is to understand the reciprocal effect of mechanical stress on proteins and cells. Despite its importance, the influence of mechanical stress on cellular function is still poorly understood. In part, this knowledge gap exists because few tools enable simultaneous deformation of tissue and cells, imaging of cellular activity in live animals, and efficient restriction of motility in otherwise highly mobile model organisms, such as the nematode Caenorhabditis elegans. The small size of C...
February 19, 2018: Journal of Visualized Experiments: JoVE
Gembu Maryu, Haruko Miura, Yoichi Uda, Akira T Komatsubara, Michiyuki Matsuda, Kazuhiro Aoki
Protein kinases play pivotal roles in intracellular signal transduction, and dysregulation of kinases leads to pathological results such as malignant tumors. Kinase activity has hitherto been measured by biochemical methods such as in vitro phosphorylation assay and western blotting. However, these methods are less useful to explore spatial and temporal changes in kinase activity and its cell-to-cell variation. Recent advances in fluorescent proteins and live-cell imaging techniques enable us to visualize kinase activity in living cells with high spatial and temporal resolutions...
March 17, 2018: Cell Structure and Function
Jaidip Jagtap, Gayatri Sharma, Abdul K Parchur, Venkateswara Gogineni, Carmen Bergom, Sarah White, Michael J Flister, Amit Joshi
Vascular supply is a critical component of the tumor microenvironment (TME) and is essential for tumor growth and metastasis, yet the endogenous genetic modifiers that impact vascular function in the TME are largely unknown. To identify the host TME modifiers of tumor vascular function, we combined a novel genetic mapping strategy [Consomic Xenograft Model] with near-infrared (NIR) fluorescence imaging and multiparametric analysis of pharmacokinetic modeling. To detect vascular flow, an intensified cooled camera based dynamic NIR imaging system with 785 nm laser diode based excitation was used to image the whole-body fluorescence emission of intravenously injected indocyanine green dye...
February 1, 2018: Biomedical Optics Express
Yaru Shi, Wei Liu, Haifeng Zheng, Zhiqiang Li, Xiaorui Shi, Shixuan Cai, Zhiqiang Jiao, Wenjie Mao, Jinrong Xie, Jie Tian, Fu Wang
Pre-mRNA splicing is an essential step in gene expression in most eukaryote genes. Here we present the feasibility of a genetically encoded luciferase reporter to monitor the pre-mRNA splicing process in living cells and animals. We showed that the splicing activity change induced by isoginkgetin could be readily visualized in vitro both in a dose and time dependent manner. Moreover, the pre-mRNA splicing process could be also obviously detected in mice by bioluminescence imaging and confirmed by RT-PCR. Our work provided a reporter system that allows high-throughput screening of chemical libraries to identify potential compounds leading to aberrant patterns of splicing...
February 1, 2018: Biomedical Optics Express
Radka Pourova, Jana Paderova, Jana Copikova, Bohdan Kousal, Lubica Dudakova, Petra Liskova
No abstract text is available yet for this article.
March 15, 2018: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
Alexander Lam, Kevin Bui, Eduardo Hernandez Rangel, Michael Nguyentat, Dayantha Fernando, Kari Nelson, Nadine Abi-Jaoudeh
Radiogenomics involves the integration of mineable data from imaging phenotypes with genomic and clinical data to establish predictive models using machine learning. As a noninvasive surrogate for a tumor's in vivo genetic profile, radiogenomics may potentially provide data for patient treatment stratification. Radiogenomics may also supersede the shortcomings associated with genomic research, such as the limited availability of high-quality tissue and restricted sampling of tumoral subpopulations. Interventional radiologists are well suited to circumvent these obstacles through advancements in image-guided tissue biopsies and intraprocedural imaging...
March 15, 2018: Journal of Vascular and Interventional Radiology: JVIR
Candace C Style, Stephanie M Cruz, Patricio E Lau, Timothy C Lee, David E Wesson, Oluyinka O Olutoye
PURPOSE: The purpose of this study was to evaluate treatment and surgical outcomes of patients of Beckwith-Wiedemann Syndrome (BWS) treated at a tertiary children's hospital. METHODS: A retrospective review of infants evaluated at Texas Children's Hospital for BWS from August 2000 to December 2016 was performed. Data collected included demographic information, clinical presentation, genetic evaluation, fetal imaging, operative treatment, and outcomes. RESULTS: Forty-seven children with a diagnosis of BWS were identified...
February 12, 2018: Journal of Pediatric Surgery
Margaret B Menzel, Anne K Lawrence, Eva I Rubio, Dorothy I Bulas
Fetal medicine programs within children's hospitals have been developed to ensure access to pediatric specialists across multiple disciplines. The cases that present to these programs are usually complex and require involvement of a multidisciplinary care team. Although some providers on the team limit their focus to their pediatric specialty when counseling patients, the radiologist and genetic counselor have a distinct perspective allowing them to take the larger picture into account in the evaluation of the fetus...
April 2018: Pediatric Radiology
Baptiste Couvy-Duchesne, Victoria O'Callaghan, Richard Parker, Natalie Mills, Katherine M Kirk, Jan Scott, Anna Vinkhuyzen, Daniel F Hermens, Penelope A Lind, Tracey A Davenport, Jane M Burns, Melissa Connell, Brendan P Zietsch, James Scott, Margaret J Wright, Sarah E Medland, John McGrath, Nicholas G Martin, Ian B Hickie, Nathan A Gillespie
PURPOSE: The Nineteen and Up study (19Up) assessed a range of mental health and behavioural problems and associated risk factors in a genetically informative Australian cohort of young adult twins and their non-twin siblings. As such, 19Up enables detailed investigation of genetic and environmental pathways to mental illness and substance misuse within the Brisbane Longitudinal Twin Sample (BLTS). PARTICIPANTS: Twins and their non-twin siblings from Queensland, Australia; mostly from European ancestry...
March 17, 2018: BMJ Open
Naoki Komine, Shigeru Satoh, Mitsuru Saito, Kazuyuki Numakura, Takamitsu Inoue, Hiroshi Tsuruta, Shintaro Narita, Atsushi Komatsuda, Hiroshi Nanjo, Hideaki Kagaya, Takenori Niioka, Masatomo Miura, Yoko Mitobe, Tomonori Habuchi
The impact of CYP3A5 polymorphisms on clinical outcomes is controversial. The present study investigated the impact of CYP3A5 genetic differences on the development of interstitial fibrosis (IF) from 0 h to 1 year post-transplantation in biopsy sections from 96 living kidney recipients under the same target trough regimen of tacrolimus. The relationships between CYP3A5 polymorphisms and long-term graft function and death-censored graft survival were also examined. A quantitative analysis of IF was performed using computer-assisted imaging on virtual slides...
March 14, 2018: International Immunopharmacology
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