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https://www.readbyqxmd.com/read/28943948/analysis-of-the-expression-level-and-methylation-of-tumor-protein-p53-phosphatase-and-tensin-homolog-and-muts-homolog-2-in-n-methyl-n-nitrosourea-induced-thymic-lymphoma-in-c57bl-6-mice
#1
Xueyun Huo, Zhenkun Li, Shuangyue Zhang, Changlong Li, Meng Guo, Jing Lu, Jianyi Lv, Xiaoyan Du, Zhenwen Chen
Tumorigenesis is often caused by somatic mutation or epigenetic changes in genes that regulate aspects of cell death, proliferation and survival. Although the functions of multiple tumor suppressor genes have been well studied in isolation, how these genes cooperate during the progression of a single tumor remains unclear in numerous cases. The present study used N-methyl-N-nitrosourea (MNU), one of the most potent mutagenic nitrosourea compounds, to induce thymic lymphoma in C57BL/6J mice. Subsequently, the protein expression levels of phosphatase and tensin homolog (PTEN), transformation protein 53 and mutS homolog 2 (MSH2) were evaluated concomitantly in the thymus, liver, kidney and spleen of MNU-treated mice by western blotting...
October 2017: Oncology Letters
https://www.readbyqxmd.com/read/28943851/in-silico-analysis-of-small-rnas-suggest-roles-for-novel-and-conserved-mirnas-in-the-formation-of-epigenetic-memory-in-somatic-embryos-of-norway-spruce
#2
Igor A Yakovlev, Carl G Fossdal
Epigenetic memory in Norway spruce affects the timing of bud burst and bud set, vitally important adaptive traits for this long-lived forest species. Epigenetic memory is established in response to the temperature conditions during embryogenesis. Somatic embryogenesis at different epitype inducing (EpI) temperatures closely mimics the natural processes of epigenetic memory formation in seeds, giving rise to epigenetically different clonal plants in a reproducible and predictable manner, with respect to altered bud phenology...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28943242/csnk1a1-regulates-prmt1-to-maintain-the-progenitor-state-in-self-renewing-somatic-tissue
#3
Xiaomin Bao, Zurab Siprashvili, Brian J Zarnegar, Rajani M Shenoy, Eon J Rios, Natalie Nady, Kun Qu, Angela Mah, Daniel E Webster, Adam J Rubin, Glenn G Wozniak, Shiying Tao, Joanna Wysocka, Paul A Khavari
Somatic progenitors sustain tissue self-renewal while suppressing premature differentiation. Protein arginine methyltransferases (PRMTs) affect many processes; however, their role in progenitor function is incompletely understood. PRMT1 was found to be the most highly expressed PRMT in epidermal progenitors and the most downregulated PRMT during differentiation. In targeted mouse knockouts and in long-term regenerated human mosaic epidermis in vivo, epidermal PRMT1 loss abolished progenitor self-renewal and led to premature differentiation...
September 18, 2017: Developmental Cell
https://www.readbyqxmd.com/read/28943233/unravelling-fibromyalgia-steps-towards-individualized-management
#4
Winfried Häuser, Serge Perrot, Daniel J Clauw, Mary-Ann Fitzcharles
The heterogeneity of the clinical presentation and the pathophysiologic mechanisms associated with fibromyalgia (FM), and the modest results on average for any therapy, call for a more individualized management strategy. Individualized treatment can be based on subgrouping of patients according to associated conditions (mental health problems; chronic overlapping pain conditions; other somatic diseases) or on the disease severity. Categorizing FM as mild, moderate or severe can be based on clinical assessment (e...
September 21, 2017: Journal of Pain: Official Journal of the American Pain Society
https://www.readbyqxmd.com/read/28942711/epigenetic-drift-is-a-determinant-of-mammalian-lifespan
#5
Andrew R Mendelsohn, James Larrick
The epigenome, which controls cell identity and function, is not maintained with 100 percent fidelity in somatic animal cells. Errors in the maintenance of the epigenome lead to epigenetic drift, an important hallmark of aging. Numerous studies have described DNA methylation clocks that correlate epigenetic drift with increasing age. The question of how significant a role epigenetic drift plays in creating the phenotypes associated with aging remains open. A recent study describes a new DNA methylation clock that can be slowed by caloric restriction (CR) in a way that correlates with the degree of lifespan and healthspan extension conferred by CR, suggesting that epigenetic drift itself is a determinant of mammalian lifespan...
September 25, 2017: Rejuvenation Research
https://www.readbyqxmd.com/read/28942539/correction-of-%C3%AE-thalassemia-mutant-by-base-editor-in-human-embryos
#6
Puping Liang, Chenhui Ding, Hongwei Sun, Xiaowei Xie, Yanwen Xu, Xiya Zhang, Ying Sun, Yuanyan Xiong, Wenbin Ma, Yongxiang Liu, Yali Wang, Jianpei Fang, Dan Liu, Zhou Songyang, Canquan Zhou, Junjiu Huang
β-Thalassemia is a global health issue, caused by mutations in the HBB gene. Among these mutations, HBB -28 (A>G) mutations is one of the three most common mutations in China and Southeast Asia patients with β-thalassemia. Correcting this mutation in human embryos may prevent the disease being passed onto future generations and cure anemia. Here we report the first study using base editor (BE) system to correct disease mutant in human embryos. Firstly, we produced a 293T cell line with an exogenous HBB -28 (A>G) mutant fragment for gRNAs and targeting efficiency evaluation...
September 23, 2017: Protein & Cell
https://www.readbyqxmd.com/read/28942426/rapid-dna-synthesis-during-early-drosophila%C3%A2-embryogenesis-is-sensitive-to-maternal-humpty-dumpty-protein-function
#7
Shera Lesly, Jennifer L Bandura, Brian R Calvi
Problems with DNA replication cause cancer and developmental malformations. It is not fully understood how DNA replication is coordinated with development and perturbed in disease. We had previously identified the Drosophila gene humpty dumpty (hd) and showed that null alleles cause incomplete DNA replication, tissue undergrowth, and lethality. Animals homozygous for the missense allele, hd(272-9) , were viable, but adult females had impaired amplification of eggshell protein genes in the ovary, resulting in the maternal effects of thin eggshells and embryonic lethality...
September 23, 2017: Genetics
https://www.readbyqxmd.com/read/28942425/chromosome-healing-is-promoted-by-the-telomere-cap-component-hiphop-in-drosophila
#8
Rebeccah L Kurzhals, Laura Fanti, A C Gonzalez Ebsen, Yikang S Rong, Sergio Pimpinelli, Kent G Golic
The addition of a new telomere onto a chromosome break, a process termed healing, has been studied extensively in organisms that utilize telomerase to maintain their telomeres. In comparison, relatively little is known about how new telomeres are constructed on broken chromosomes in organisms that do not use telomerase. Chromosome healing was studied in somatic and germline cells of Drosophila melanogaster, a non-telomerase species. We observed, for the first time, that broken chromosomes can be healed in somatic cells...
September 23, 2017: Genetics
https://www.readbyqxmd.com/read/28942182/mutational-signatures-efficiently-identify-different-mutational-processes-underlying-cancers-with-similar-somatic-mutation-spectra
#9
Nan Zhou, Yuan Yuan, Xin Long, Chuanfang Wu, Jinku Bao
Compared to analyzing mutations with conventional spectra, deciphering mutational signatures provides much greater resolution of biological processes that generate somatic mutations during cancer development. Previous studies of bladder urothelial cancer (BLCA) and cervical squamous cell carcinoma (CESC) mutational signatures failed to uncover different mutational processes underlying the two cancers, which diminishes the capability of mutational signature to differentiate between the two cancers. In this study, we deciphered and compared the mutational signatures of BLCA and CESC...
July 19, 2017: Mutation Research
https://www.readbyqxmd.com/read/28941690/does-l-glutamine-supplemented-diet-extenuate-no-mediated-damage-on-myenteric-plexus-of-walker-256-tumor-bearing-rats
#10
Geraldo Emílio Vicentini, Heber Amilcar Martins, Luciane Fracaro, Sara Raquel Garcia de Souza, Kassio Papi da Silva Zanoni, Thamara Nishida Xavier Silva, Fernanda Paschoal Blegniski, Flávia Alessandra Guarnier, Jacqueline Nelisis Zanoni
This study was designed to appraise the relationship between enteric neuropathy and oxidative stress in cancer cachexia under l-glutamine-supplemented diet. Total and nitrergic neuronal populations were investigated in jejunum and ileum in four experimental groups: control (C); control l-glutamine-supplemented diet (CG); Walker-256 tumor (TW); and Walker-256 tumor supplemented with l-glutamine (TWG). In addition, local oxidative stress, neuronal nitric oxide synthase (nNOS) enzyme and nitric oxide (NO) levels were evaluated...
November 2017: Food Research International
https://www.readbyqxmd.com/read/28941602/clinical-and-experimental-aspects-of-notch-receptor-signaling-hajdu-cheney-syndrome-and-related-disorders
#11
Ernesto Canalis
BACKGROUND: There are four Notch transmembrane receptors that determine the fate and function of cells. Notch is activated following its interactions with ligands of the Jagged and Delta-like families that lead to the cleavage and release of the Notch intracellular domain (NICD); this translocates to the nucleus to induce the transcription of Notch target genes. Genetic disorders of loss- and gain-of-NOTCH function present with severe clinical manifestations. BASIC PROCEDURES: In this article, current knowledge of Hajdu Cheney Syndrome (HCS) and related disorders is reviewed...
August 24, 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/28941465/quantitative-analysis-of-l1-retrotransposons-in-alzheimer-s-disease-and-aging
#12
M S Protasova, F E Gusev, A P Grigorenko, I L Kuznetsova, E I Rogaev, T V Andreeva
LINE1 retrotransposons are members of a class of mobile genetic elements capable of retrotransposition in the genome via a process of reverse transcription. LINE1 repeats, integrating into different chromosomal loci, affect the activity of genes and cause different genomic mutations. Somatic variability of the human genome is linked to the activity of some subfamilies of LINE1, in particular, a high level of LINE1 retrotranspositions has been observed in brain tissues. However, the contribution of LINE1 to genomic variability during normal aging and in age-related neurodegenerative diseases is poorly understood...
August 2017: Biochemistry. Biokhimii︠a︡
https://www.readbyqxmd.com/read/28941241/recent-progress-of-national-banking-project-on-homozygous-hla-typed-induced-pluripotent-stem-cells-in-south-korea
#13
Yeri Alice Rim, Narae Park, Yoojun Nam, Dong-Sik Ham, Ji-Won Kim, Hye-Yeong Ha, Ji-Won Jung, Seung Min Jung, In Cheol Baek, Su-Yeon Kim, Tai-Gyu Kim, Jihwan Song, Jennifer Lee, Sung-Hwan Park, Nak-Gyun Chung, Kun-Ho Yoon, Ji Hyeon Ju
Induced pluripotent stem cells (iPSCs) can be generated by introducing several factors into mature somatic cells. Banking of iPSCs can lead to wider application for treatment and research. In an economical view, it is important to store cells that can cover a high percentage of the population. Therefore, the use of homozygous human leukocyte antigen-iPSCs (HLA-iPSCs) is thought as a potential candidate for effective iPSC banking system for further clinical use. We screened the database stored in the Catholic Hematopoietic Stem Cell Bank of Korea and sorted the most frequent homozygous HLA types of the South Korean population...
September 23, 2017: Journal of Tissue Engineering and Regenerative Medicine
https://www.readbyqxmd.com/read/28941119/sedentary-behavior-and-physical-activity-levels-in-people-with-schizophrenia-bipolar-disorder-and-major-depressive-disorder-a-global-systematic-review-and-meta-analysis
#14
Davy Vancampfort, Joseph Firth, Felipe B Schuch, Simon Rosenbaum, James Mugisha, Mats Hallgren, Michel Probst, Philip B Ward, Fiona Gaughran, Marc De Hert, André F Carvalho, Brendon Stubbs
People with severe mental illness (schizophrenia, bipolar disorder or major depressive disorder) die up to 15 years prematurely due to chronic somatic comorbidities. Sedentary behavior and low physical activity are independent yet modifiable risk factors for cardiovascular disease and premature mortality in these people. A comprehensive meta-analysis exploring these risk factors is lacking in this vulnerable population. We conducted a meta-analysis investigating sedentary behavior and physical activity levels and their correlates in people with severe mental illness...
October 2017: World Psychiatry: Official Journal of the World Psychiatric Association (WPA)
https://www.readbyqxmd.com/read/28941052/the-spectrum-of-dnmt3a-variants-in-tatton-brown-rahman-syndrome-overlaps-with-that-in-hematologic-malignancies
#15
Wei Shen, Jennifer M Heeley, Colleen M Carlston, Rocio Acuna-Hidalgo, Willy M Nillesen, Karin M Dent, Ganka V Douglas, Kara L Levine, Pinar Bayrak-Toydemir, Carlo L Marcelis, Marwan Shinawi, John C Carey
De novo, germline variants in DNMT3A cause Tatton-Brown-Rahman syndrome (TBRS). This condition is characterized by overgrowth, distinctive facial appearance, and intellectual disability. Somatic DNMT3A variants frequently occur in hematologic malignances, particularly acute myeloid leukemia. The Arg882 residue is the most common site of somatic DNMT3A variants, and has also been altered in patients with TBRS. Here we present three additional patients with this disorder attributed to DNMT3A germline variants that disrupt the Arg882 codon, suggesting that this codon may be a germline mutation hotspot in this disorder...
September 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28941044/potential-biological-targets-for-bioassay-development-in-drug-discovery-of-sturge-weber-syndrome
#16
REVIEW
Fatemeh Mohammadipanah, Fatemeh Salimi
Sturge-Weber Syndrome (SWS) is a neurocutaneous disease with clinical manifestations including ocular (glaucoma), cutaneous (port-wine birthmark), neurological (seizures) and vascular problems. Molecular mechanisms of SWS pathogenesis are initiated by the somatic mutation in GNAQ. Therefore, no definite treatments exist for SWS and treatment options only mitigate the intensity of its clinical manifestations. Biological assay design for drug discovery against this syndrome demands comprehensive knowledge on mechanisms which are involved in its pathogenesis...
September 21, 2017: Chemical Biology & Drug Design
https://www.readbyqxmd.com/read/28940516/analysis-of-clonal-expansions-through-the-normal-and-premalignant-human-breast-epithelium-reveals-the-presence-of-luminal-stem-cells
#17
Biancastella Cereser, Marnix Jansen, Emily Austin, George Elia, Taneisha McFarlane, Carolien Hm van Deurzen, Anieta M Sieuwerts, Maria G Daidone, Paul J Tadrous, Nicholas A Wright, Louise Jones, Stuart Ac McDonald
It is widely accepted that the cell of origin of breast cancer is the adult mammary epithelial stem cell, however demonstrating the presence and location of tissue stem cells in the human breast has proved difficult. Furthermore, we do not know the clonal architecture of the normal and premalignant mammary epithelium or its cellular hierarchy. Here we use deficiency in the mitochondrial enzyme cytochrome c oxidase (CCO), typically caused by somatic mutations in the mitochondrial genome, as a means to perform lineage tracing in the human mammary epithelium...
September 22, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28940304/the-foxa2-transcription-factor-is-frequently-somatically-mutated-in-uterine-carcinosarcomas-and-carcinomas
#18
Matthieu Le Gallo, Meghan L Rudd, Mary Ellen Urick, Nancy F Hansen, Maria J Merino, David G Mutch, Paul J Goodfellow, James C Mullikin, Daphne W Bell
BACKGROUND: Uterine carcinosarcomas (UCSs) are a rare but clinically aggressive form of cancer. They are biphasic tumors consisting of both epithelial and sarcomatous components. The majority of uterine carcinosarcomas are clonal, with the carcinomatous cells undergoing metaplasia to give rise to the sarcomatous component. The objective of the current study was to identify novel somatically mutated genes in UCSs. METHODS: We whole exome sequenced paired tumor and nontumor DNAs from 14 UCSs and orthogonally validated 464 somatic variants using Sanger sequencing...
September 21, 2017: Cancer
https://www.readbyqxmd.com/read/28940150/-suicide-risk-in-somatoform-disorders
#19
REVIEW
Giancarlo Giupponi, Ignazio Maniscalco, Sandra Mathà, Carlotta Ficco, Georg Pernther, Livia Sanna, Maurizio Pompili, Hans-Peter Kapfhammer, Andreas Conca
BACKGROUND: The somatoform disorders include a group of complex disorders consist of somatic symptoms for which there are no identifiable organic cause or pathogenetic mechanisms. Given the importance of these disorders and the need to clarify the diagnosis of somatoform disorder affecting the suicide risk, we took into consideration the scientific literature to investigate the correlation between the two conditions. METHODS: We performed a bibliographic search through Medline, Embase, PsycINFO, Scopus, SciELO, ORCID, Google Scholar, DOAJ using the following terms: somatoform, somatization disorder, pain disorder AND psychological factor, suicide, parasuicide, suicidality...
September 22, 2017: Neuropsychiatrie: Klinik, Diagnostik, Therapie und Rehabilitation
https://www.readbyqxmd.com/read/28939756/efficient-induction-of-ig-gene-hypermutation-in-ex-vivo-activated-primary-b-cells
#20
Jun Liu, Ermeng Xiong, Hanying Zhu, Hiromi Mori, Shoya Yasuda, Kazuo Kinoshita, Takeshi Tsubata, Ji-Yang Wang
Activation-induced cytidine deaminase (AID) initiates both somatic hypermutation (SHM) and class switch recombination (CSR) of Ig genes. How AID is targeted to the Ig V gene and switch region to trigger SHM and CSR remains elusive. Primary B cells stimulated with CD40L plus IL-4 or LPS plus IL-4 undergo efficient CSR, but it has been difficult to induce SHM in these cells. In the current study, we used B cells from B1-8(hi) mice carrying a prerecombined VH186.2DFL16.1JH2 Ab gene to investigate the induction of SHM under in vitro culture conditions...
September 22, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
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