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https://www.readbyqxmd.com/read/29142762/analysis-of-cyp1b1-gene-mutations-in-patients-with-primary-congenital-glaucoma
#1
REVIEW
Leila Chouiter, Sellama Nadifi
Primary congenital glaucoma (PCG) is the most common type of infantile glaucoma, yet it remains a relatively rare disease, because the disease is often transmitted in an autosomal recessive pattern. However, PCG occurs up to 10 times more frequently in certain ethnic and geographical groups where consanguineous relationships are common. The aim of this study was to investigate the distribution of mutations in the cytochrome P450 1B1 gene ( CYP1B1 ) in patients with PCG among different populations around the world from 2011 until May 2016...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29138857/mir%C3%A2-218-inhibits-the-proliferation-of-human-glioma-cells-through-downregulation-of-yin-yang-1
#2
Yong Gao, Laisheng Sun, Zicheng Wu, Chengmin Xuan, Junxia Zhang, Yongping You, Xincheng Chen
Malignant glioma is the most common cancer type of the nervous system and the mechanisms driving the occurrence and development remain unclear, preventing effective treatment of this disease. Therefore, novel and efficient therapies for glioma are required. MicroRNAs (miRNAs) are small non‑coding RNAs that act as oncogenes or tumor suppressors in human cancer. In the present study, it was confirmed that Yin Yang‑1 (YY1), a transcription factor that is part of the polycomb group protein (PcG) family, is a direct target of miR‑218 in human glioma cells...
November 15, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29129997/trichloroethylene-induced-alterations-in-dna-methylation-were-enriched-in-polycomb-protein-binding-sites-in-effector-memory-cd4-t-cells
#3
Kathleen M Gilbert, Sarah J Blossom, Brad Reisfeld, Stephen W Erickson, Kanan Vyas, Mary Maher, Brannon Broadfoot, Kirk West, Shasha Bai, Craig A Cooney, Sudeepa Bhattacharyya
Exposure to industrial solvent and water pollutant trichloroethylene (TCE) can promote autoimmunity, and expand effector/memory (CD62L) CD4(+) T cells. In order to better understand etiology reduced representation bisulfite sequencing was used to study how a 40-week exposure to TCE in drinking water altered methylation of ∼337 770 CpG sites across the entire genome of effector/memory CD4(+) T cells from MRL+/+ mice. Regardless of TCE exposure, 62% of CpG sites in autosomal chromosomes were hypomethylated (0-15% methylation), and 25% were hypermethylated (85-100% methylation)...
July 2017: Environmental Epigenetics
https://www.readbyqxmd.com/read/29128522/biological-evidence-for-attention-bias-to-food-emotional-dysregulation-disinhibition-and-deficient-somatosensory-awareness-in-obesity-with-binge-eating-disorder
#4
Roni Aviram-Friedman, Nerys Astbury, Christopher N Ochner, Isobel Contento, Allan Geliebter
OBJECTIVES: To refine the biobehavioral markers of binge eating disorder (BED). METHODS: We conducted fMRI brain scans using images of high energy processed food (HEPF), low energy unprocessed food (LEUF), or non-foods (NF) in 42 adults (obese with BED [obese -BED; n=13] and obese with no BED [obese non-BED; n=29]) selected via ads. Two blood oxygenated level dependent (BOLD) signal contrast maps were examined: food versus nonfood, and HEPF versus LEUF. In addition, score differences on the disinhibition scale were correlated with BOLD signals...
November 8, 2017: Physiology & Behavior
https://www.readbyqxmd.com/read/29127737/genomic-data-from-arthropods-reveal-high-conservation-but-divergent-evolutionary-pattern-of-polycomb-trithorax-group-genes-in-arthropods
#5
Feng Jiang, Qing Liu, Xiang Liu, Xian-Hui Wang, Le Kang
Epigenetic gene control is maintained by chromatin-associated Polycomb group (PcG) and Trithorax group (TrxG) genes, which act antagonistically via the interplay between PcG and TrxG regulation to generate silenced or permissive transcriptional states. In this study, we searched for PcG/TrxG genes in 180 arthropod genomes, covering all the sequenced arthropod genomes at the time of conducting this study, to perform a global investigation of PcG/TrxG genes in a phylogenetic frame. Results of ancestral state reconstruction analysis revealed that the ancestor of arthropod species has an almost complete repertoire of PcG/TrxG genes, and most of these genes were seldom lost above order level...
November 11, 2017: Insect Science
https://www.readbyqxmd.com/read/29127415/sequencing-and-characterization-of-the-complete-mitochondrial-genome-of-japanese-swellshark-cephalloscyllium-umbratile
#6
Ke-Cheng Zhu, Yin-Yin Liang, Na Wu, Hua-Yang Guo, Nan Zhang, Shi-Gui Jiang, Dian-Chang Zhang
To further comprehend the genome features of Cephalloscyllium umbratile (Carcharhiniformes), an endangered species, the complete mitochondrial DNA (mtDNA) was firstly sequenced and annotated. The full-length mtDNA of C. umbratile was 16,697 bp and contained ribosomal RNA (rRNA) genes, 13 protein-coding genes (PCGs), 23 transfer RNA (tRNA) genes, and a major non-coding control region. Each PCG was initiated by an authoritative ATN codon, except for COX1 initiated by a GTG codon. Seven of 13 PCGs had a typical TAA termination codon, while others terminated with a single T or TA...
November 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29126586/-analysis-of-uterus-cervical-cancer-screening-campaign-results-in-conakry-guinea
#7
Daniel William Athanase Leno, Fatoumata Diaraye Diallo, Ansoumane Yassima Camara, Mamadou Magassouba, Faya Dendo Komano, Ayelama Traore, Delphine Niamy, Julien Tolno, Oumou Cissoko, Mbalia Bangoura, Namory Keita
OBJECTIVE: Reduce morbidity and death rates of women with cervical cancer in Guinea. METHODOLOGY: This was a five-day cross-sectional study carried out in two successive years (2012 and 2013) at the CERFFO-PCG in Conakry. The target population was women aged 25-49. Approximately 500 women for 2012 and 900 women were expected in these cervical screening campaigns by visual methods (IVA and IVL) with immediate treatment of precancerous lesions. After histologic confirmation of the cancer lesions, the management was carried out according to the protocols in force in the country...
November 7, 2017: Bulletin du Cancer
https://www.readbyqxmd.com/read/29120412/bortezomib-induced-mirnas-direct-epigenetic-silencing-of-locus-genes-and-trigger-apoptosis-in-leukemia
#8
Yu-Yi Chu, Chiung-Yuan Ko, Shao-Ming Wang, Pin-I Lin, Han-Ying Wang, Wen-Chi Lin, Dong-Yu Wu, Lu-Hao Wang, Ju-Ming Wang
MicroRNAs (miRNAs) have been suggested to repress transcription via binding the 3'-untranslated regions of mRNAs. However, the involvement and details of miRNA-mediated epigenetic regulation, particularly in targeting genomic DNA and mediating epigenetic regulation, remain largely uninvestigated. In the present study, transcription factor CCAAT/enhancer binding protein delta (CEBPD) was responsive to the anticancer drug bortezomib, a clinical and highly selective drug for leukemia treatment, and contributed to bortezomib-induced cell death...
November 9, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/29118589/the-complete-mitochondrial-dna-sequence-of-the-pantropical-earthworm-pontoscolex-corethrurus-rhinodrilidae-clitellata-mitogenome-characterization-and-phylogenetic-positioning
#9
Ana C Conrado, Hugo Arruda, David W G Stanton, Samuel W James, Peter Kille, George Brown, Elodie Silva, Lise Dupont, Shabnam Taheri, Andrew J Morgan, Nelson Simões, Armindo Rodrigues, Rafael Montiel, Luis Cunha
Pontoscolex corethrurus (Müller, 1857) plays an important role in tropical soil ecosystems and has been widely used as an animal model for a large variety of ecological studies in particular due to its common presence and generally high abundance in human-disturbed tropical soils. In this study we describe the complete mitochondrial genome of the peregrine earthworm P. corethrurus. This is the first record of a mitochondrial genome within the Rhinodrilidae family. Its mitochondrial genome is 14 835 bp in length containing 37 genes (13 protein-coding genes (PCG) 2 rRNA genes and 22 tRNA genes)...
2017: ZooKeys
https://www.readbyqxmd.com/read/29106382/angiopoietin-1-is-required-for-schlemm-s-canal-development-in-mice-and-humans
#10
Benjamin R Thomson, Tomokazu Souma, Stuart W Tompson, Tuncer Onay, Krishnakumar Kizhatil, Owen M Siggs, Liang Feng, Kristina N Whisenhunt, Tammy L Yanovitch, Luba Kalaydjieva, Dimitar N Azmanov, Simone Finzi, Christine E Tanna, Alex W Hewitt, David A Mackey, Yasmin S Bradfield, Emmanuelle Souzeau, Shari Javadiyan, Janey L Wiggs, Francesca Pasutto, Xiaorong Liu, Simon Wm John, Jamie E Craig, Jing Jin, Terri L Young, Susan E Quaggin
Primary congenital glaucoma (PCG) is a leading cause of blindness in children worldwide and is caused by developmental defects in 2 aqueous humor outflow structures, Schlemm's canal (SC) and the trabecular meshwork. We previously identified loss-of-function mutations in the angiopoietin (ANGPT) receptor TEK in families with PCG and showed that ANGPT/TEK signaling is essential for SC development. Here, we describe roles for the major ANGPT ligands in the development of the aqueous outflow pathway. We determined that ANGPT1 is essential for SC development, and that Angpt1-knockout mice form a severely hypomorphic canal with elevated intraocular pressure...
November 6, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29096600/the-complete-mitochondrial-genome-of-parasitic-nematode-camallanus-cotti-extreme-discontinuity-in-the-rate-of-mitogenomic-architecture-evolution-within-the-chromadorea-class
#11
Hong Zou, Ivan Jakovlić, Rong Chen, Dong Zhang, Jin Zhang, Wen-Xiang Li, Gui-Tang Wang
BACKGROUND: Complete mitochondrial genomes are much better suited for the taxonomic identification and phylogenetic studies of nematodes than morphology or traditionally-used molecular markers, but they remain unavailable for the entire Camallanidae family (Chromadorea). As the only published mitogenome in the Camallanina suborder (Dracunculoidea superfamily) exhibited a unique gene order, the other objective of this research was to study the evolution of mitochondrial architecture in the Spirurida order...
November 2, 2017: BMC Genomics
https://www.readbyqxmd.com/read/29089522/the-polycomb-group-protein-cbx6-is-an-essential-regulator-of-embryonic-stem-cell-identity
#12
Alexandra Santanach, Enrique Blanco, Hua Jiang, Kelly R Molloy, Miriam Sansó, John LaCava, Lluis Morey, Luciano Di Croce
Polycomb group proteins (PcG) are transcriptional repressors that control cell identity and development. In mammals, five different CBX proteins associate with the core Polycomb repressive complex 1 (PRC1). In mouse embryonic stem cells (ESCs), CBX6 and CBX7 are the most highly expressed CBX family members. CBX7 has been recently characterized, but little is known regarding the function of CBX6. Here, we show that CBX6 is essential for ESC identity. Its depletion destabilizes the pluripotency network and triggers differentiation...
November 1, 2017: Nature Communications
https://www.readbyqxmd.com/read/29070704/bivalent-complexes-of-prc1-with-orthologs-of-brd4-and-moz-morf-target-developmental-genes-in-drosophila
#13
Hyuckjoon Kang, Youngsook L Jung, Kyle A McElroy, Barry M Zee, Heather A Wallace, Jessica L Woolnough, Peter J Park, Mitzi I Kuroda
Regulatory decisions in Drosophila require Polycomb group (PcG) proteins to maintain the silent state and Trithorax group (TrxG) proteins to oppose silencing. Since PcG and TrxG are ubiquitous and lack apparent sequence specificity, a long-standing model is that targeting occurs via protein interactions; for instance, between repressors and PcG proteins. Instead, we found that Pc-repressive complex 1 (PRC1) purifies with coactivators Fs(1)h [female sterile (1) homeotic] and Enok/Br140 during embryogenesis. Fs(1)h is a TrxG member and the ortholog of BRD4, a bromodomain protein that binds to acetylated histones and is a key transcriptional coactivator in mammals...
October 1, 2017: Genes & Development
https://www.readbyqxmd.com/read/29060917/a-robust-dataset-agnostic-heart-disease-classifier-from-phonocardiogram
#14
Rohan Banerjee, Anirban Dutta Choudhury, Parijat Deshpande, Sakyajit Bhattacharya, Arpan Pal, K M Mandana
Automatic classification of normal and abnormal heart sounds is a popular area of research. However, building a robust algorithm unaffected by signal quality and patient demography is a challenge. In this paper we have analysed a wide list of Phonocardiogram (PCG) features in time and frequency domain along with morphological and statistical features to construct a robust and discriminative feature set for dataset-agnostic classification of normal and cardiac patients. The large and open access database, made available in Physionet 2016 challenge was used for feature selection, internal validation and creation of training models...
July 2017: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/29060901/novel-features-from-autocorrelation-and-spectrum-to-classify-phonocardiogram-quality
#15
Deepan Das, Rohan Banerjee, Anirban Dutta Choudhury, Sakyajit Bhattacharya, Parijat Deshpande, Arpan Pal, Kayapanda M Mandana
Phonocardiogram (PCG) or auscultation via a stethoscope forms the basis of preliminary medical screening. But PCG recorded in an uncontrolled environment is inherently noisy. In this paper we have derived novel features from the spectral domain and autocorrelation waveforms. These are used to identify the quality of a PCG recording and accepting only diagnosable quality recordings for further analysis. These features proved to be robust irrespective of variations in devices and in data collection protocols employed to ensure consistent data quality...
July 2017: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/29060656/pattern-discovery-and-similarity-assessment-for-robust-heart-sound-segmentation
#16
D Nunes, P Carvalho, J Henriques, M Graca Ruano, C Teixeira
Heart Sound Segmentation plays a fundamental role in pathology detection in Phonocardiogram (PCG) signals. This matter of study has been widely studied in the past decades, however the majority of algorithms' results correspond only to small databases, composed by only quality signals or signals specific to one acquisition system. In this work we proposed a robust segmentation algorithm integrated with clinical information, based on a pattern recognition approach for segmentation of the fundamental heart sounds, which is validated in several databases from different countries and with different acquisition instrumentations...
July 2017: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/29060468/analysis-of-phonocardiogram-signals-through-proactive-denoising-using-novel-self-discriminant-learner
#17
Chetanya Puri, Rituraj Singh, Soma Bandyopadhyay, Arijit Ukil, Ayan Mukherjee
Phonocardiogram (PCG) records heart sound and murmurs, which contains significant information of cardiac health. Analysis of PCG signal has the potential to detect abnormal cardiac condition. However, the presence of noise and motion artifacts in PCG hinders the accuracy of clinical event detection. Thus, noise detection and elimination are crucial to ensure accurate clinical analysis. In this paper, we present a robust denoising technique, Proclean that precisely detects the noisy PCG signal through pattern recognition, and statistical learning...
July 2017: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/29060427/pattern-discovery-and-similarity-assessment-for-robust-heart-sound-segmentation
#18
D Nunes, P Carvalho, J Henriques, C Teixeira
Heart Sound Segmentation plays a fundamental role in pathology detection in Phonocardiogram (PCG) signals. This matter of study has been widely studied in the past decades, however the majority of algorithms' results correspond only to small databases, composed by only quality signals or signals specific to one acquisition system. In this work we proposed a robust segmentation algorithm integrated with clinical information, based on a pattern recognition approach for segmentation of the fundamental heart sounds, which is validated in several databases from different countries and with different acquisition instrumentations...
July 2017: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/29060231/estimation-of-blood-pressure-from-non-invasive-data
#19
Satya Narayan Shukla
Blood pressure (BP) is one of the most important physiological parameter that can provide crucial information for health care. The widely used cuff based technology is not very convenient or comfortable as it occludes the blood flow in the arteries during the time of measurement. In past, Phonocardiogram (PCG), Electrocardiogram (ECG) and Photoplethysmogram (PPG) signals have been used to predict the BP values. In this paper, we propose to estimate the blood pressure from PPG using Multi Task Gaussian Processes (MTGPs) and compare with Artificial Neural networks (ANNs)...
July 2017: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/29054931/polycomb-group-ring-finger-protein-3-5-activate-transcription-via-an-interaction-with-the-pluripotency-factor-tex10-in-embryonic-stem-cells
#20
Wukui Zhao, Yikai Huang, Jingzi Zhang, Mengjie Liu, Haijing Ji, Congcong Wang, Ning Cao, Chaojun Li, Yin Xia, Qing Jiang, Jinzhong Qin
Polycomb group (PcG) proteins are epigenetic transcriptional repressors that orchestrate numerous developmental processes and have been implicated in the maintenance of embryonic stem (ES) cell state. More recent evidence suggests that a subset of PcG proteins engages in transcriptional activation in some cellular contexts. But how this property is exerted remains largely unknown. Here, we generated ES cells with single or combined disruption of Polycomb group RING finger protein 3 (Pcgf3) and Pcgf5 with the CRISPR-Cas9 technique...
October 20, 2017: Journal of Biological Chemistry
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