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https://www.readbyqxmd.com/read/28934671/the-hnf1a-mutant-ala180val-clinical-challenges-in-determining-causality-of-a-rare-hnf1a-variant-in-familial-diabetes
#1
J V Sagen, L Bjørkhaug, B I Haukanes, L Grevle, J Molnes, B G Nedrebø, O Søvik, P R Njølstad, S Johansson, A Molven
AIMS: Heterozygous mutations in hepatocyte nuclear factor-1A (HNF1A) cause maturity-onset diabetes of the young type 3 (MODY3). Our aim was to compare two families with suspected dominantly inherited diabetes and a new HNF1A variant of unknown clinical significance. METHODS: The HNF1A gene was sequenced in two independently recruited families from the Norwegian MODY Registry. Both familes were phenotyped clinically and biochemically. Microsatellite markers around and within the HNF1A locus were used for haplotyping...
September 1, 2017: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/28933695/cooperative-interactions-enable-singular-olfactory-receptor-expression-in-mouse-olfactory-neurons
#2
Kevin Monahan, Ira Schieren, Jonah Cheung, Alice Mumbey-Wafula, Edwin S Monuki, Stavros Lomvardas
The monogenic and monoallelic expression of only one out of >1000 mouse olfactory receptor (ORs) genes requires the formation of large heterochromatic chromatin domains that sequester the OR gene clusters. Within these domains, intergenic transcriptional enhancers evade heterochromatic silencing and converge into interchromosomal hubs that assemble over the transcriptionally active OR. The significance of this nuclear organization in OR choice remains elusive. Here, we show that transcription factors Lhx2 and Ebf specify OR enhancers by binding in a functionally cooperative fashion to stereotypically spaced motifs that defy heterochromatin...
September 21, 2017: ELife
https://www.readbyqxmd.com/read/28932375/fever-of-unknown-origin-in-a-male-patient-with-systemic-lupus-erythematosus
#3
Duminda Bandara Basnayake, Thamara Kannangara, Laknath Welagedara, Vindhya Bandara, Janitha Herath
BACKGROUND: Systemic lupus erythematosus (SLE) is an inflammatory autoimmune disorder which is uncommon in men. It has a wide variety of clinical presentations. CASE REPORT: We report a 21-year-old male presented with one month history of fever, loss of appetite, weight loss and reduced hair growth with an examination revealing an oral ulcer, cervical and axillary lymphadenopathy simulating hematological malignancy. Investigations showed pancytopenia, positive anti-nuclear factor and double-stranded DNA, high erythrocyte sedimentation rate with normal C-reactive protein levels and hypocomplementemia...
2017: Caspian Journal of Internal Medicine
https://www.readbyqxmd.com/read/28931862/long-non-coding-rna-hotair-promotes-cell-migration-by-upregulating-insulin-growth-factor-binding-protein-2-in-renal-cell-carcinoma
#4
Hiromichi Katayama, Keiichi Tamai, Rie Shibuya, Mao Nakamura, Mai Mochizuki, Kazunori Yamaguchi, Sadafumi Kawamura, Tatsuo Tochigi, Ikuro Sato, Takamasa Okanishi, Kunie Sakurai, Wataru Fujibuchi, Yoichi Arai, Kennichi Satoh
Renal cell carcinoma (RCC) is one of the most lethal urologic cancers. About one-third of RCC patients already have distal metastasis at the time of diagnosis. There is growing evidence that Hox antisense intergenic RNA (HOTAIR) plays essential roles in metastasis in several types of cancers. However, the precise mechanism by which HOTAIR enhances malignancy remains unclear, especially in RCC. Here, we demonstrated that HOTAIR enhances RCC-cell migration by regulating the insulin growth factor-binding protein 2 (IGFBP2) expression...
September 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28930982/development-of-a-human-preclinical-model-of-osteoclastogenesis-from-peripheral-blood-monocytes-co-cultured-with-breast-cancer-cell-lines
#5
Laura Mercatali, Chiara Spadazzi, Giacomo Miserocchi, Chiara Liverani, Alessandro De Vita, Alberto Bongiovanni, Federica Recine, Dino Amadori, Toni Ibrahim
The crosstalk between tumor cells and bone cells in the bone microenvironment is crucial to understanding the mechanism of bone metastasis formation. We developed an in vitro fully human preclinical model of a co-culture of breast cancer cells and monocytes undergoing differentiation towards osteoclasts. We optimized a model of osteoclastogenesis starting from a sample of peripheral blood collected from healthy donors. Peripheral blood mononuclear cells (PBMCs) were first separated by density gradient centrifugation, seeded at a high density and induced to differentiate by adding two growth factors (GFs): receptor activator of nuclear factor-κB ligand (RANKL) and macrophage colony-stimulating factor (MCSF)...
September 13, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28928970/the-role-of-hyperuricemia-on-vascular-endothelium-dysfunction
#6
Haitao Zhen, Fen Gui
Hyperuricemia appears to be associated with an increased risk for cardiovascular disease and associated mortality. Population epidemiological data support a causal link between hyperuricemia and cardiovascular disease. Endothelium injury could be one of the potential mechanisms in hyperuricemia-induced cardiovascular disease. However, the specific role of uric acid (UA) in the impairment of vascular relaxation and its signal transduction pathway has not been examined. The authors investigated the role of UA on vascular relaxation, nitric oxide (NO) production and expression of proinflammatory cytokines...
October 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28923841/a-novel-notch-yap-circuit-drives-stemness-and-tumorigenesis-in-embryonal-rhabdomyosarcoma
#7
Katherine K Slemmons, Lisa E S Crose, Stefan Riedel, Manuela Sushnitha, Brian C Belyea, Corinne M Linardic
Rhabdomyosarcoma (RMS), a cancer characterized by skeletal muscle features, is the most common soft tissue sarcoma of childhood. While low and intermediate-risk groups have seen improved outcomes, high-risk patients still face a 5-year survival of <30%, a statistic that has not changed in over 40 years. Understanding the biologic underpinnings of RMS is critical. The developmental pathways of Notch and YAP have been identified as potent but independent oncogenic signals that support the embryonal variant of RMS (eRMS)...
September 18, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28922739/o-glcnac-transferase-regulates-transcriptional-activity-of-human-oct4
#8
Sandii Constable, Jae-Min Lim, Krithika Vaidyanathan, Lance Wells
O-linked β-N-acetylglucosamine (O-GlcNAc) is a single sugar modification found on many different classes of nuclear and cytoplasmic proteins. Addition of this modification, by the enzyme O-linked N-acetylglucosamine transferase (OGT), is dynamic and inducible. One major class of proteins modified by O-GlcNAc is transcription factors. O-GlcNAc regulates transcription factor properties through a variety of different mechanisms including localization, stability and transcriptional activation. Maintenance of embryonic stem (ES) cell pluripotency requires tight regulation of several key transcription factors, many of which are modified by O-GlcNAc...
October 1, 2017: Glycobiology
https://www.readbyqxmd.com/read/28921659/ligature-induced-peri-implantitis-and-periodontitis-in-mice
#9
Sarah Hiyari, Ryan Wong, Aline Yaghsezian, Azadi Naghibi, Sotirios Tetradis, Paulo M Camargo, Flavia Q Pirih
AIM: Peri-implantitis (PI), inflammation around dental implants, shares characteristics with periodontitis (PD). However, PI is more difficult to control, treat, and detailed pathophysiology is unclear. We aimed to compare PI and PD progression utilizing a murine model. MATERIALS AND METHODS: Four-week-old male C57BL/6J mice had their left maxillary molars extracted. Implants were placed in healed extraction sockets and osseointegrated. Ligatures were tied around the implant and second molar...
September 16, 2017: Journal of Clinical Periodontology
https://www.readbyqxmd.com/read/28919779/nuclear-factor-kappa-b1-inhibits-early-apoptosis-of-glioma-cells-by-promoting-the-expression-of-bcl-2
#10
Tian-Quan Yang, Min Chen, Yong-Qiang Wang, Wei Xu, Yong Han, Jin Xu, Yong-Jun Xiang, Bin Yuan, Hang-Zhou Wang, You-Xin Zhou
Glioma is one of the most common types of adult primary brain tumors, and the underlying molecular mechanisms still remain unclear. Nuclear factor-kappa B1 (NF-κB1) is involved in a variety of malignancies and is widely expressed in malignant tumors. However, the expression of NF-κB1 in different grades of glioma, the correlation between NF-κB1 and Bcl-2 expressions in gliomas, and the research between NF-κB1 and early apoptosis of glioma cells have not been reported so far. In this study, the expression level of NF-κB1 in 31 human glioma tissues and six nonneoplastic brain tissues was determined using quantitative real-time polymerase chain reaction...
2017: OncoTargets and Therapy
https://www.readbyqxmd.com/read/28919488/mast-cells-derived-from-human-induced-pluripotent-stem-cells-are-useful-for-allergen-tests
#11
Akira Igarashi, Yasuhiro Ebihara, Tomoaki Kumagai, Hiroyuki Hirai, Kinya Nagata, Kohichiro Tsuji
BACKGROUND: Several methods have been developed to detect allergen-specific IgE in sera. The passive IgE sensitization assay using human IgE receptor-expressing rat cell line RBL-2H3 is a powerful tool to detect biologically active allergen-specific IgE in serum samples. However, one disadvantage is that RBL-2H3 cells are vulnerable to high concentrations of human sera. Only a few human cultured cell lines are easily applicable to the passive IgE sensitization assay. However, the use of human induced pluripotent stem cells (iPSCs) to generate human mast cells (MCs) has not yet been reported...
September 14, 2017: Allergology International: Official Journal of the Japanese Society of Allergology
https://www.readbyqxmd.com/read/28918029/activation-of-ampk-attenuated-cardiac-fibrosis-by-inhibiting-cdk2-via-p21-p27-and-mir-29-family-pathways-in-rats
#12
Hanping Qi, Yan Liu, Shuzhi Li, Yunping Chen, Lei Li, Yonggang Cao, Mingyao E, Pilong Shi, Chao Song, Baiyan Li, Hongli Sun
Cardiac fibrosis is pathological damage associated with nearly all forms of heart disease. AMP-activated protein kinase (AMPK) is an evolutionary conserved energy-sensing enzyme. Emerging evidences indicate that AMPK plays an important role in cardiac fibrosis and cell proliferation. However, less is known about the detailed mechanism of AMPK activation on cardiac fibrosis. In this study, we found the AMPK activation improved the impaired cardiac function of cardiac fibrosis rats and decreased interstitial fibrosis...
September 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28916968/hmgb-proteins-and-arthritis
#13
REVIEW
Noboru Taniguchi, Yasuhiko Kawakami, Ikuro Maruyama, Martin Lotz
The high-mobility group box (HMGB) family includes four members: HMGB1, 2, 3 and 4. HMGB proteins have two functions. In the nucleus, HMGB proteins bind to DNA in a DNA structure-dependent but nucleotide sequence-independent manner to function in chromatin remodeling. Extracellularly, HMGB proteins function as alarmins, which are endogenous molecules released upon tissue damage to activate the immune system. HMGB1 acts as a late mediator of inflammation and contributes to prolonged and sustained systemic inflammation in subjects with rheumatoid arthritis...
September 15, 2017: Human Cell
https://www.readbyqxmd.com/read/28916494/transflammation-innate-immune-signaling-in-nuclear-reprogramming
#14
Shu Meng, Palas Chanda, Rajarajan A Thandavarayan, John P Cooke
Induction of pluripotency in somatic cells by retroviral overexpression of four transcription factors has revolutionized the field of stem cell biology and regenerative medicine. The efficient induction of pluripotency requires the activation of innate immune signaling in a process termed "transflammation" [1]. Specifically, the stimulation of pattern recognition receptors (PRRs) causes global alterations in the expression and activity of epigenetic modifiers to favor an open chromatin configuration. Activation of toll-like receptors (TLR) or RIG-1-like receptors (RLR) [2] trigger signaling cascades that result in NFκB or IRF-3 mediated changes in epigenetic plasticity that facilitate reprogramming...
September 12, 2017: Advanced Drug Delivery Reviews
https://www.readbyqxmd.com/read/28916426/prognostic-relevance-of-tripartite-motif-containing-24-expression-in-colorectal-cancer
#15
Feng-Qin Wang, Yan Han, WenJuan Yao, Jing Yu
Colorectal cancer is one of the most frequent malignancies in the world. Tripartite motif containing 24 (TRIM24) is a member of the TRIM protein family and a coregulator for multiple nuclear receptors. Altered expression of TRIM24 has been shown in a spectrum of human cancers. However, the clinical role of TRIM24 in colorectal cancer remains unknown. Here, gene expression data in colorectal cancer and normal tissues were downloaded from Gene Expression Omnibus (GEO). Western blotting analysis was conducted to compare TRIM24 expression between colorectal cancer and non-cancerous tissues...
August 25, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28914193/chalcone-derivatives-anti-inflammatory-potential-and-molecular-targets-perspectives
#16
Debarshi Kar Mahapatra, Sanjay Kumar Bharti, Vivek Asati
Chalcone or (E)-1,3-diphenyl-2-propene-1-one scaffold has gained considerable scientific interest in medicinal chemistry owing to its simple chemistry, ease in synthesizing a variety of derivatives and exhibiting a broad range of promising pharmacological activities by modulating several molecular targets. A number of natural and (semi-) synthetic chalcone derivatives have demonstrated admirable anti-inflammatory activity due to their inhibitory potential against various therapeutic targets like cyclooxygenase (COX), lipooxygenase (LOX), interleukins (IL), prostaglandins (PGs), nitric oxide synthase (NOS), leukotriene D4 (LTD4), nuclear factor-κB (NF-κB), intracellular cell adhesion molecule-1 (ICAM-1), vascular cell adhesion molecule-1 (VCAM-1), monocyte chemoattractant protein-1 (MCP-1) and TLR4/MD-2, etc...
September 14, 2017: Current Topics in Medicinal Chemistry
https://www.readbyqxmd.com/read/28912823/assessment-of-environmental-attitudes-and-risk-perceptions-among-university-students-in-mersin-turkey
#17
Gulcin Yapici, Oya Ögenler, Ahmet Öner Kurt, Fazıl Koçaş, Tayyar Şaşmaz
BACKGROUND: Environmental destruction is one of the most important problems in this century. OBJECTIVE: The aim of the study was to determine the environmental attitudes and perceived risks associated with environmental factors of the students. METHODS: This cross-sectional study was conducted in 7 faculties of Mersin University. The research data were collected using a questionnaire. The questionnaire included sociodemographic characteristics, the "Environmental Attitudes Scale," and the "Environmental Risk Perception Scale...
2017: Journal of Environmental and Public Health
https://www.readbyqxmd.com/read/28912161/disruption-of-bmal1-impairs-blood-brain-barrier-integrity-via-pericyte-dysfunction
#18
Ryota Nakazato, Kenji Kawabe, Daisuke Yamada, Shinsuke Ikeno, Michihiro Mieda, Shigeki Shimba, Eiichi Hinoi, Yukio Yoneda, Takeshi Takarada
Circadian rhythm disturbances are well-established in neurological diseases. However, how these disruptions cause homeostatic imbalances remains poorly understood. Brain and muscle aryl hydrocarbon receptor nuclear translocator-like protein 1 (Bmal1) is a major circadian clock transcriptional activator, and Bmal1 deficiency in male Bmal1nestin(-/-) mice induced marked astroglial activation without affecting the number of astrocytes in the brain and spinal cord. Bmal1 deletion caused blood-brain barrier (BBB) hyperpermeability with an age-dependent loss of pericyte coverage of blood vessels in the brain...
September 14, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28911214/growth-regulation-by-estrogen-in-breast-cancer-1-greb1-is-a-novel-progesterone-responsive-gene-required-for-human-endometrial-stromal-decidualization
#19
Alison J Camden, Maria M Szwarc, Sangappa B Chadchan, Francesco J DeMayo, Bert W O'Malley, John P Lydon, Ramakrishna Kommagani
STUDY QUESTION: Is Growth Regulation by Estrogen in Breast Cancer 1 (GREB1) required for progesterone-driven endometrial stromal cell decidualization? SUMMARY ANSWER: GREB1 is a novel progesterone-responsive gene required for progesterone-driven human endometrial stromal cell (HESC) decidualization. WHAT IS KNOWN ALREADY: Successful establishment of pregnancy requires HESCs to transform from fibroblastic to epithelioid cells in a process called decidualization...
September 1, 2017: Molecular Human Reproduction
https://www.readbyqxmd.com/read/28904176/the-crystal-structure-of-the-ahrr-arnt-heterodimer-reveals-the-structural-basis-of-the-repression-of-ahr-mediated-transcription
#20
Shunya Sakurai, Toshiyuki Shimizu, Umeharu Ohto
2,3,7,8-Tetrachlorodibenzo-p-dioxin and related compounds (TCDDs) are extraordinarily potent environmental toxic pollutants. Most of the TCDD toxicities are mediated by aryl hydrocarbon receptor (AhR), a ligand-dependent transcription factor belonging to the basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) family. Upon ligand binding, AhR forms a heterodimer with AhR nuclear translocator (ARNT) and induces the expression of genes involved in various biological responses. One of the genes induced by AhR encodes AhR repressor (AhRR), which also forms a heterodimer with ARNT and represses the activation of AhR-dependent transcription...
September 13, 2017: Journal of Biological Chemistry
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