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https://www.readbyqxmd.com/read/28431466/next-generation-sequencing-reveals-one-novel-missense-mutation-in-col1a2-gene-in-an-iranian-family-with-osteogenesis-imperfecta
#1
Farah Talebi, Farideh Ghanbari Mardasi, Mohammadi Asl Javad, Bavarsad Amir Hooshang, Salehi Kambo Masoumeh
BAckground: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder characterized by bone loss and bone fragility. The aim of this study was to investigate the variants of three genes involved in the pathogenesis of OI. Methods: Molecular genetic analyses were performed for COL1A1, COL1A2, and CRTAP genes in an Iranian family with OI. The DNA samples were analyzed by next-generation sequencing (NGS) gene panel and Sanger sequencing. Results: Five different variants were identified in COL1A1 and COL1A2, including two variants in COL1A1 and three variants in COL1A2...
April 22, 2017: Iranian Biomedical Journal
https://www.readbyqxmd.com/read/28431405/usp5-functions-as-an-oncogene-for-stimulating-tumorigenesis-in-hepatocellular-carcinoma
#2
Yi Liu, Wei-Mao Wang, Ying-Fei Lu, Lu Feng, Li Li, Ming-Zhu Pan, Yu Sun, Chun-Wai Suen, Wei Guo, Jian-Xin Pang, Jin-Fang Zhang, Wei-Ming Fu
As deubiquitinases, several ubiquitin specific protease members have been reported to mediate tumorigenesis. Although ubiquitin specific protease 5 (Usp5) was previously demonstrated to suppress p53 transcriptional activity and DNA repair, its role in carcinogenesis remains elusive. In this study, we sought to define a novel role of Usp5 in tumorigenesis. It was found that Usp5 was significantly upregulated in hepatocellular carcinoma (HCC) cells and most clinical specimens. Further functional investigation also showed that Usp5 knockdown suppressed cell proliferation, migration, drug resistance and induced apoptosis; on the other hand, Usp5 overexpression promoted colony formation, migration, drug resistance and tumorigenesis...
April 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/28431283/zika-virus-infection-of-adult-and-fetal-stat2-knock-out-hamsters
#3
Venkatraman Siddharthan, Arnaud J Van Wettere, Rong Li, Jinxin Miao, Zhongde Wang, John D Morrey, Justin G Julander
Zika virus (ZIKV) infection was investigated in adult and fetal STAT2 knock-out (KO) hamsters. Subcutaneous injection of ZIKV of adults resulted in morbidity, mortality, and infection of the uterus, placenta, brain, spinal cord, and testicles, thus providing an opportunity to evaluate congenital ZIKV infection in a second rodent species besides mice. ZIKV-infected cells with morphologies of Sertoli cells and spermatogonia were observed in the testes, which may have implications for sexual transmission and male sterility...
April 18, 2017: Virology
https://www.readbyqxmd.com/read/28431180/collagenosis-of-the-deep-medullary-veins-an-underrecognized-pathologic-correlate-of-white-matter-hyperintensities-and-periventricular-infarction
#4
Julia Keith, Fu-Qiang Gao, Raza Noor, Alex Kiss, Gayathiri Balasubramaniam, Kelvin Au, Ekaterina Rogaeva, Mario Masellis, Sandra E Black
White matter hyperintensities (WMH) are prevalent. Although arteriolar disease has been implicated in their pathogenesis, venous pathology warrants consideration. We investigated relationships of WMH with histologic venous, arteriolar and white matter abnormalities and correlated findings with premortem neuroimaging. Three regions of periventricular white matter were sampled from archived autopsy brains of 24 pathologically confirmed Alzheimer disease (AD) and 18 age-matched nonAD patients. Using trichrome staining, venous collagenosis (VC) of periventricular veins (<150 µm in diameter) was scored for severity of wall thickening and occlusion; percent stenosis by collagenosis of large caliber (>200 µm) veins (laVS) was measured...
April 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28431179/mirna-regulation-in-gliomas-usual-suspects-in-glial-tumorigenesis-and-evolving-clinical-applications
#5
Heather Ames, Marc K Halushka, Fausto J Rodriguez
In recent years, an increasing role for noncoding small RNAs (miRNA) has been uncovered in carcinogenesis. These oligonucleotides can promote degradation and/or inhibit translation of key mRNAs. Recent studies have also highlighted a possible role for miRNAs in adult and pediatric brain tumors, including high- and low-grade gliomas, medulloblastoma, ependymoma, and neoplasms associated with neurofibromatosis type 1. Gliomas represent the most common category of primary intraparenchymal brain tumors, and, for example, manipulation of signaling pathways, through inhibition of PTEN transcription appears to be an important function of miRNA dysregulation through miR-21, miR-106b, and miR-26a...
April 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28431062/impact-of-basal-inferolateral-scar-burden-determined-by-automatic-analysis-of-99mtc-mibi-myocardial-perfusion-spect-on-the-long-term-prognosis-of-cardiac-resynchronization-therapy
#6
Itsuro Morishima, Kenji Okumura, Hideyuki Tsuboi, Yasuhiro Morita, Kensuke Takagi, Ruka Yoshida, Hiroaki Nagai, Toshiro Tomomatsu, Yoshihiro Ikai, Kazushi Terada, Takahito Sone, Toyoaki Murohara
Aims: Left-ventricular (LV) scarring may be associated with a poor response to cardiac resynchronization therapy (CRT). The automatic analysis of myocardial perfusion single-photon emission computed tomography (MP-SPECT) may provide objective quantification of LV scarring. We investigated the impact of LV scarring determined by an automatic analysis of MP-SPECT on short-term LV volume response as well as long-term outcome. Methods and Results: We studied consecutive 51 patients who were eligible to undergo 99mTc-MIBI MP-SPECT both at baseline and 6 months after CRT (ischaemic cardiomyopathies 31%)...
April 1, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28430966/decreased-thromboembolic-stroke-but-not-atherosclerosis-or-vascular-remodeling-in-mice-with-rock2-deficient-platelets
#7
Nikola Sladojevic, Goo Taeg Oh, Hyung-Hwan Kim, Lea M Beaulieu, Hervé Falet, Karol Kaminski, Jane E Freedman, James K Liao
Aims: Rho-associated coiled-coil containing kinase (ROCK)-2 is an important mediator of the actin cytoskeleton. Because changes in the actin cytoskeleton are critical for platelet function, we hypothesized that ROCK2 in platelets will play important role in thrombosis and can be potentially a target for therapeutic intervention in thromboembolic stroke. Methods and Results: We generated platelet-specific ROCK2-deficient mice (ROCK2 Plt-/- ) from conditional ROCK2 fl°x/fl°x and platelet factor (PF)-4-Cre transgenic mice...
April 14, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28430856/a-comprehensive-analysis-of-rare-genetic-variation-in-amyotrophic-lateral-sclerosis-in-the-uk
#8
Sarah Morgan, Aleksey Shatunov, William Sproviero, Ashley R Jones, Maryam Shoai, Deborah Hughes, Ahmad Al Khleifat, Andrea Malaspina, Karen E Morrison, Pamela J Shaw, Christopher E Shaw, Katie Sidle, Richard W Orrell, Pietro Fratta, John Hardy, Alan Pittman, Ammar Al-Chalabi
Amyotrophic lateral sclerosis is a progressive neurodegenerative disease of motor neurons. About 25 genes have been verified as relevant to the disease process, with rare and common variation implicated. We used next generation sequencing and repeat sizing to comprehensively assay genetic variation in a panel of known amyotrophic lateral sclerosis genes in 1126 patient samples and 613 controls. About 10% of patients were predicted to carry a pathological expansion of the C9orf72 gene. We found an increased burden of rare variants in patients within the untranslated regions of known disease-causing genes, driven by SOD1, TARDBP, FUS, VCP, OPTN and UBQLN2...
April 18, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28430854/dynamic-modeling-and-network-approaches-for-omics-time-course-data-overview-of-computational-approaches-and-applications
#9
Yulan Liang, Arpad Kelemen
Inferring networks and dynamics of genes, proteins, cells and other biological entities from high-throughput biological omics data is a central and challenging issue in computational and systems biology. This is essential for understanding the complexity of human health, disease susceptibility and pathogenesis for Predictive, Preventive, Personalized and Participatory (P4) system and precision medicine. The delineation of the possible interactions of all genes/proteins in a genome/proteome is a task for which conventional experimental techniques are ill suited...
April 18, 2017: Briefings in Bioinformatics
https://www.readbyqxmd.com/read/28430671/elevated-production-of-nociceptive-cc-chemokines-and-se-selectin-in-patients-with-low-back-pain-and-the-effects-of-spinal-manipulation-a-non-randomized-clinical-trial
#10
Julita A Teodorczyk-Injeyan, Marion McGregor, John J Triano, H Stephen Injeyan
BACKGROUND: The involvement of inflammatory components in the pathophysiology of low back pain is poorly understood. It has been suggested that spinal manipulative therapy (SMT) may exert anti-inflammatory effects. PURPOSE: To determine the involvement of inflammation-associated chemokines (CC series) in the pathogenesis of non-specific low back pain and to evaluate the effect of SMT on that process. METHODS: Patients presenting with non-radicular, non-specific low back pain (minimum pain score 3 on 10 point visual analogue scale, VAS) were recruited according to stringent inclusion criteria...
April 19, 2017: Clinical Journal of Pain
https://www.readbyqxmd.com/read/28430662/histone-demethylase-jmjd3-regulates-cd11a-expression-through-changes-in-histone-h3k27-tri-methylation-levels-in-cd4-t-cells-of-patients-with-systemic-lupus-erythematosus
#11
Heng Yin, Haijing Wu, Ming Zhao, Qing Zhang, Hai Long, Siqi Fu, Qianjin Lu
Aberrant CD11a overexpression in CD4+ T cells induces T cell auto-reactivity, which is an important factor for systemic lupus erythematosus (SLE) pathogenesis. Although many studies have focused on CD11a epigenetic regulation, little is known about histone methylation. JMJD3, as a histone demethylase, is capable of specifically removing the trimethyl group from the H3K27 lysine residue, triggering target gene activation. Here, we examined the expression and function of JMJD3 in CD4+ T cells from SLE patients...
April 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/28430657/microrna-signatures-predict-prognosis-of-patients-with-glioblastoma-multiforme-through-the-cancer-genome-atlas
#12
Ying Yuan, Hua Zhang, Xuexia Liu, Zhongming Lu, Guojun Li, Meixia Lu, Xiaofeng Tao
MicroRNAs (miRNAs) play major roles in various biological processes and have been implicated in the pathogenesis and malignant progression of glioblastoma multiforme (GBM). The aim of this study was to assess the predictive values of miRNAs for overall survival (OS) of patients with GBM. MiRNA expression profiles and clinical information of 563 GBM patients were obtained from the Cancer Genome Atlas. The most significantly altered miRNAs were identified and miRNA expression profiles were performed, through principal component analysis, the least absolute shrinkage and selection operator method...
April 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/28430641/the-regulation-of-%C3%AE-catenin-activity-and-function-in-cancer-therapeutic-opportunities
#13
REVIEW
Shuang Shang, Fang Hua, Zhuo-Wei Hu
Wnt/β-catenin signaling is an evolutionarily conserved and versatile pathway that is known to be involved in embryonic development, tissue homeostasis and a wide variety of human diseases. Aberrant activation of this pathway gives rise to the accumulation of β-catenin in the nucleus and promotes the transcription of many oncogenes such as c-Myc and CyclinD-1. As a result, it contributes to carcinogenesis and tumor progression of several cancers, including colon cancer, hepatocellular carcinoma, pancreatic cancer, lung cancer and ovarian cancer...
February 25, 2017: Oncotarget
https://www.readbyqxmd.com/read/28430627/the-long-non-coding-rna-h19-promotes-cardiomyocyte-apoptosis-in-dilated-cardiomyopathy
#14
Yanlin Zhang, Mengyao Zhang, Weiting Xu, Jianchang Chen, Xiang Zhou
In the previous study, we generated a rat model of dilated cardiomyopathy (DCM) induced by adriamycin and found that the expression of lncRNA H19 was significantly upregulated in myocardial tissue. The present study was aimed to investigate the potential role of H19 in the pathogenesis of adriamycin-induced DCM. H19 knockdown in the myocardium of DCM rats attenuated cardiomyocyte apoptosis and improved left ventricular structure and function. Adriamycin treatment was associated with elevated H19 and miR-675 expression and increased apoptosis in neonatal cardiomyocytes...
February 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/28430541/a-comprehensive-approach-to-hepatic-vascular-disease
#15
Khaled M Elsayes, Akram M Shaaban, Sarah M Rothan, Sanaz Javadi, Beatrice L Madrazo, Rosa P Castillo, Victor J Casillas, Christine O Menias
The liver has a complex vascular supply, which involves the inflow of oxygenated blood through the hepatic artery (systemic circulation) and deoxygenated blood through the portal vein (portal circulation), as well as the outflow of deoxygenated blood through the hepatic veins to the inferior vena cava. A spectrum of vascular variants can involve the liver. Some of these variants may result in areas of enhancement that can mimic more serious pathologic conditions. In this article, the authors discuss a spectrum of variants and pathologic conditions that may involve the liver vasculature...
April 21, 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28430386/peptidome-analysis-of-human-serum-from-normal-and-preeclamptic-pregnancies
#16
Xiaonan Dai, Xuejing Song, Can Rui, Li Meng, Xuan Xue, Hongjuan Ding, Rong Shen, Jun Li, Jingyun Li, Yuanqing Lu, Wei Long
Preeclampsia is a kind of disease that severely harms the health of pregnant women and infants. To better understand the molecular mechanisms involved in preeclampsia, we used liquid chromatography-mass spectrometry/mass spectrometry (LC-MS/MS) to construct a comparative peptidomic profiling of human serum between normal and preeclamptic pregnancies. A total of 201 peptides were confidently identified, with 21 up-regulated and 3 down-regulated. Further analysis indicated that these differentially expressed peptides correlate with enzyme regulator activity, biological regulation, and coagulation cascades occurring during pathological changes of preeclampsia...
April 21, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28430372/retinal-nerve-fibre-layer-thickness-is-reduced-in-metabolic-syndrome
#17
R Zarei, P Anvari, Y Eslami, G Fakhraie, M Mohammadi, A Jamali, M Afarideh, A Ghajar, S Heydarzade, A Esteghamati, S Moghimi
AIMS: To investigate retinal nerve fibre layer (RNFL) thickness in people with metabolic syndrome (MetS) and healthy controls. METHODS: A cross-sectional study was performed from March 2014 to January 2016. All participants underwent anthropometric and serological biochemical measurements, ophthalmological examination, and spectral-domain optical coherence tomography (SD-OCT). Individuals with elevated intraocular pressure, glaucoma, diabetic retinopathy and other ocular disorders were excluded...
April 21, 2017: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/28430371/evaluation-of-circulating-zonulin-as-a-potential-marker-in-the-pathogenesis-of-nonalcoholic-fatty-liver-disease
#18
Olfat M Hendy, Maha M Elsabaawy, Mona M Aref, Fatma M Khalaf, Abdel Moaty A Oda, Helmy M El Shazly
Nonalcoholic fatty liver disease (NAFLD) is a spectrum of liver disorders ranging from simple hepatic steatosis up to nonalcoholic steatohepatitis (NASH) evolving to cirrhosis and hepatocellular carcinoma (HCC). Liver biopsy is still the gold standard modality for diagnosing and staging NAFLD. The linkage between intestinal microbiota and NAFLD, might suggest a potential role of serum zonulin in NAFLD diagnosis. To appraise the role of circulating zonulin in NAFLD pathogenesis, 56 subjects with proved NAFLD by ultrasonography and liver biopsy, as well as 20 healthy controls were tested...
April 21, 2017: APMIS: Acta Pathologica, Microbiologica, et Immunologica Scandinavica
https://www.readbyqxmd.com/read/28430289/evidence-from-spatial-pattern-analysis-for-the-anatomical-spread-of-%C3%AE-synuclein-pathology-in-parkinson-s-disease-dementia
#19
Richard A Armstrong
<i>The objective of this study was to determine whether there is evidence from quantitative morphometry and spatial pattern analysis to support the hypothesis of anatomical spread of -synuclein in Parkinson's disease dementia (PDD). Hence, clustering of -synuclein-immunoreactive Lewy bodies (LB), Lewy neurites (LN), and Lewy grains (LG) was studied in -synuclein-immunolabeled sections of cortical and limbic regions in 12 cases of PDD. The data suggested that: (1) LB, LN, and LG occurred in clusters which in 63% of regions were regularly distributed parallel to the tissue boundary, (2) in approximately 30% of cortical regions, the estimated cluster size of LB, LN, and LG was within the size range of cellular columns associated with the cortico-cortical pathways, (3) regularly distributed clusters were present in anatomically connected regions, and (4) the clustering pattern was similar to that of prion protein (PrPsc) deposits in Creutzfeldt-Jacob disease (CJD)...
2017: Folia Neuropathologica
https://www.readbyqxmd.com/read/28430287/dysembryoplastic-neuroepithelial-tumour-insight-into-the-pathology-and-pathogenesis
#20
Iwona Sontowska, Ewa Matyja, Jacek Malejczyk, Wieslawa Grajkowska
<i>Dysembryoplastic neuroepithelial tumour (DNT) is categorized as a benign glioneuronal neoplasm affecting children and young adults with chronic epileptic seizures. It is characterized by predominant intracortical localization and nodular architecture. Dysembryoplastic neuroepithelial tumour usually demonstrates a distinctive morphological pattern with a specific glioneuronal element but occasionally, its morphological picture is heterogeneous and unspecific. Thus, considering the morphology of DNT, three different histopathological subtypes are distinguished: simple, complex, and non-specific and diffuse...
2017: Folia Neuropathologica
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