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https://www.readbyqxmd.com/read/29453678/differential-expression-of-the-tweak-receptor-fn14-in-idh1-wild-type-and-mutant-gliomas
#1
David S Hersh, Sen Peng, Jimena G Dancy, Rebeca Galisteo, Jennifer M Eschbacher, Rudy J Castellani, Jonathan E Heath, Teklu Legesse, Anthony J Kim, Graeme F Woodworth, Nhan L Tran, Jeffrey A Winkles
The TNF receptor superfamily member Fn14 is overexpressed by many solid tumor types, including glioblastoma (GBM), the most common and lethal form of adult brain cancer. GBM is notable for a highly infiltrative growth pattern and several groups have reported that high Fn14 expression levels can increase tumor cell invasiveness. We reported previously that the mesenchymal and proneural GBM transcriptomic subtypes expressed the highest and lowest levels of Fn14 mRNA, respectively. Given the recent histopathological re-classification of human gliomas by the World Health Organization based on isocitrate dehydrogenase 1 (IDH1) gene mutation status, we extended this work by comparing Fn14 gene expression in IDH1 wild-type (WT) and mutant (R132H) gliomas and in cell lines engineered to overexpress the IDH1 R132H enzyme...
February 16, 2018: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29452377/discordance-in-the-dependence-on-kisspeptin-signaling-in-mini-puberty-vs-adolescent-puberty-human-genetic-evidence
#2
Muhammad Shahab, Margaret Lippincott, Yee-Ming Chan, Addie Davies, Paulina M Merino, Lacey Plummer, Veronica Mericq, Stephanie Seminara
Context: Hypothalamic kisspeptin signaling plays a critical role in the initiation and maintenance of reproductive function. Biallelic mutations in the coding sequence of KISS1R (GPR54) have been identified in patients with idiopathic hypogonadotropic hypogonadism (IHH), but it is unknown whether biallelic variants can also be associated with related reproductive disorders. Case description: A missense homozygous variant (c.890G>T p.R297L) in KISS1R was identified in a child who presented with microphallus and bilateral cryptorchidism...
February 14, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29449433/highly-similar-genomic-landscapes-in-monoclonal-b-cell-lymphocytosis-and-ultra-stable-chronic-lymphocytic-leukemia-with-low-frequency-of-driver-mutations
#3
Andreas Agathangelidis, Viktor Ljungström, Lydia Scarfò, Claudia Fazi, Maria Gounari, Tatjana Pandzic, Lesley-Ann Sutton, Kostas Stamatopoulos, Giovanni Tonon, Richard Rosenquist, Paolo Ghia
Despite the recent discovery of recurrent driver mutations in chronic lymphocytic leukemia, the genetic factors involved in disease onset remain largely unknown. To address this issue, we performed whole-genome sequencing in 11 individuals with monoclonal B-cell lymphocytosis, both of the low-count and high-count subtypes, and 5 patients with ultra-stable chronic lymphocytic leukemia (>10 years without progression from initial diagnosis). All three entities were indistiguishable at the genomic level exhibiting low genomic complexity and similar types of somatic mutations...
February 15, 2018: Haematologica
https://www.readbyqxmd.com/read/29447150/life-cycle-synchronization-is-a-viral-drug-resistance-mechanism
#4
Iulia A Neagu, Jason Olejarz, Mark Freeman, Daniel I S Rosenbloom, Martin A Nowak, Alison L Hill
Viral infections are one of the major causes of death worldwide, with HIV infection alone resulting in over 1.2 million casualties per year. Antiviral drugs are now being administered for a variety of viral infections, including HIV, hepatitis B and C, and influenza. These therapies target a specific phase of the virus's life cycle, yet their ultimate success depends on a variety of factors, such as adherence to a prescribed regimen and the emergence of viral drug resistance. The epidemiology and evolution of drug resistance have been extensively characterized, and it is generally assumed that drug resistance arises from mutations that alter the virus's susceptibility to the direct action of the drug...
February 2018: PLoS Computational Biology
https://www.readbyqxmd.com/read/29443887/impact-of-mutations-in-the-hemagglutinin-of-h10n7-viruses-isolated-from-seals-on-virus-replication-in-avian-and-human-cells
#5
Anne Dittrich, David Scheibner, Ahmed H Salaheldin, Jutta Veits, Marcel Gischke, Thomas C Mettenleiter, Elsayed M Abdelwhab
Wild birds are the reservoir for low-pathogenic avian influenza viruses, which are frequently transmitted to domestic birds and occasionally to mammals. In 2014, an H10N7 virus caused severe mortality in harbor seals in northeastern Europe. Although the hemagglutinin (HA) of this virus was closely related to H10 of avian H10N4 virus, it possessed unique nonsynonymous mutations, particularly in the HA1 subunit in or adjacent to the receptor binding domain and proteolytic cleavage site. Here, the impact of these mutations on virus replication was studied in vitro...
February 14, 2018: Viruses
https://www.readbyqxmd.com/read/29439059/noninvasive-follicular-thyroid-neoplasm-with-papillary-like-nuclear-features
#6
Isabel Amendoeira, Tiago Maia, M Sobrinho-Simões
The 2017 edition of the WHO book on Classification of Tumours of Endocrine Organs includes a new section entitled "Other encapsulated follicular-patterned thyroid tumours", in which the newly created NIFTP (Non-invasive follicular thyroid neoplasm with papillary-like nuclear features) is identified and detailed described. Despite deleting the word "carcinoma" from its name, NIFTP is not a benign tumor either, and is best regarded as a neoplasm with "very low malignant potential"...
February 9, 2018: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29433971/large-scale-sequencing-of-testicular-germ-cell-tumour-tgct-cases-excludes-major-tgct-predisposition-gene
#7
Kevin Litchfield, Chey Loveday, Max Levy, Darshna Dudakia, Elizabeth Rapley, Jeremie Nsengimana, D Tim Bishop, Alison Reid, Robert Huddart, Peter Broderick, Richard S Houlston, Clare Turnbull
Testicular germ cell tumour (TGCT), the most common cancer in young men, has a significant heritable basis that has long raised questions as to the existence of underlying major high-penetrance susceptibility gene(s). To determine the contribution of rare gene mutations to the inherited risk of TGCT, we analysed germline whole-exome data for 919 TGCT cases and 1609 cancer-free controls. We compared frequencies between TGCT cases and controls of rare (<1%) and low-frequency (1-5%) coding variants (1) individually and (2) collapsed at the gene level via burden testing (T1, disruptive; T2, all deleterious; and T3, all nonsynonymous) using Fisher's exact test with Bonferroni correction of significance thresholds...
February 9, 2018: European Urology
https://www.readbyqxmd.com/read/29433430/sesotho-trial-switch-either-near-suppression-or-thousand-switch-to-second-line-versus-who-guided-standard-of-care-for-unsuppressed-patients-on-first-line-art-with-viremia-below-1000%C3%A2-copies-ml-protocol-of-a-multicenter-parallel-group-open-label-randomized-clinical
#8
Alain Amstutz, Bienvenu Lengo Nsakala, Fiona Vanobberghen, Josephine Muhairwe, Tracy Renée Glass, Beatrice Achieng, Mamorena Sepeka, Katleho Tlali, Lebohang Sao, Kyaw Thin, Thomas Klimkait, Manuel Battegay, Niklaus Daniel Labhardt
BACKGROUND: The World Health Organization (WHO) recommends viral load (VL) measurement as the preferred monitoring strategy for HIV-infected individuals on antiretroviral therapy (ART) in resource-limited settings. The new WHO guidelines 2016 continue to define virologic failure as two consecutive VL ≥1000 copies/mL (at least 3 months apart) despite good adherence, triggering switch to second-line therapy. However, the threshold of 1000 copies/mL for defining virologic failure is based on low-quality evidence...
February 12, 2018: BMC Infectious Diseases
https://www.readbyqxmd.com/read/29433109/pathogenesis-of-aortic-wall-complications-in-marfan-syndrome
#9
Nimrat Grewal, Adriana C Gittenberger-de Groot
BACKGROUND: Patients with Marfan (MFS) syndrome and patients with a bicuspid aortic valve (BAV) are more prone to develop aortic dilation and dissection compared to persons with a tricuspid aortic valve (TAV). To elucidate potential common as well as distinct pathways of clinical relevance, we compared the histopathological substrates of aortic pathology. PATIENT AND METHODS: Ascending aortic wall specimen were divided in five groups: BAV (n=36) and TAV (n=23) without and with dilation and non-dilated MFS (n=8)...
February 2, 2018: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/29431426/strand-displacement-amplification-reaction-on-quantum-dot-encoded-silica-bead-for-visual-detection-of-multiplex-micrornas
#10
Xiaojun Qu, Haojun Jin, Yuqian Liu, Qingjiang Sun
The combination of microbead array, isothermal amplification and molecular signaling enables the continuous development of next-generation molecular diagnostic techniques. Herein we reported the implementation of nicking endonuclease-assisted strand displacement amplification reaction on quantum dots-encoded microbead (Qbead), and demonstrated its feasibility for multiplexed miRNA assay in real sample. The Qbead featured with well-defined core-shell superstructure with dual-colored quantum dots loaded in silica core and shell, respectively, exhibiting remarkably high optical encoding stability...
February 12, 2018: Analytical Chemistry
https://www.readbyqxmd.com/read/29429991/p53-isoforms-regulate-premature-aging-in-human-cells
#11
Natalia von Muhlinen, Izumi Horikawa, Fatima Alam, Kazunobu Isogaya, Delphine Lissa, Borek Vojtesek, David P Lane, Curtis C Harris
Cellular senescence is a hallmark of normal aging and aging-related syndromes, including the premature aging disorder Hutchinson-Gilford Progeria Syndrome (HGPS), a rare genetic disorder caused by a single mutation in the LMNA gene that results in the constitutive expression of a truncated splicing mutant of lamin A known as progerin. Progerin accumulation leads to increased cellular stresses including unrepaired DNA damage, activation of the p53 signaling pathway and accelerated senescence. We previously established that the p53 isoforms ∆133p53 and p53β regulate senescence in normal human cells...
February 12, 2018: Oncogene
https://www.readbyqxmd.com/read/29428459/next-generation-sequencing-of-hiv-1-protease-in-the-pivot-trial-of-protease-inhibitor-monotherapy
#12
David T Dunn, Wolfgang Stöhr, Alejandro Arenas-Pinto, Anna Tostevin, Jean L Mbisa, Nicholas I Paton
BACKGROUND: The PIVOT trial examined whether patients with suppressed viral load on combination antiretroviral therapy could be safely switched long-term to ritonavir-boosted protease inhibitor (PI) monotherapy. The main trial publication reported that only one of 296 patients allocated to PI monotherapy experienced a loss of drug options due to protease mutations (identified by local Sanger sequencing resistance tests) likely selected by study drug. OBJECTIVES: To assess if we had missed low frequency mutations, using a more sensitive methodology...
February 5, 2018: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/29425131/phenotypic-and-genotypic-analysis-of-antimicrobial-resistance-among-listeria-monocytogenes-isolated-from-australian-food-production-chains
#13
Annaleise Wilson, Jessica Gray, P Scott Chandry, Edward M Fox
The current global crisis of antimicrobial resistance (AMR) among important human bacterial pathogens has been amplified by an increased resistance prevalence. In recent years, a number of studies have reported higher resistance levels among Listeria monocytogenes isolates, which may have implications for treatment of listeriosis infection where resistance to key treatment antimicrobials is noted. This study examined the genotypic and phenotypic AMR patterns of 100 L. monocytogenes isolates originating from food production supplies in Australia and examined this in the context of global population trends...
February 9, 2018: Genes
https://www.readbyqxmd.com/read/29422948/processivity-and-enzymatic-mechanism-of-a-multifunctional-family-5-endoglucanase-from-bacillus-subtilis-bs-5-with-potential-applications-in-the-saccharification-of-cellulosic-substrates
#14
Bin Wu, Shan Zheng, Marcelo Monteiro Pedroso, Luke W Guddat, Siyuan Chang, Bingfang He, Gerhard Schenk
Background: Presently, enzymes still constitute a major part of the cost of biofuel production from lignocellulosic biomass. Processive endoglucanases, which possess both endoglucanase and exoglucanase activity, have the potential to reduce the costs of biomass saccharification when used together with commercial cellulases. Therefore, the exploration of new processive endoglucanases has attracted much attention with a view to accelerating the industrialization of biofuels and biochemicals...
2018: Biotechnology for Biofuels
https://www.readbyqxmd.com/read/29422611/decitibine-improve-the-efficiency-of-anti-pd-1-therapy-via-activating-the-response-to-ifn-pd-l1-signal-of-lung-cancer-cells
#15
Qi Lai, Haiyong Wang, Angui Li, Yinhui Xu, Liang Tang, Qiang Chen, Chunfang Zhang, Yang Gao, Jianfei Song, Zhenzong Du
IFN-γ-induced PD-L1 expression represents the existence of tumor-specific T cells, which predicts high-response rate to anti-PD-1/L1 therapy, but loss-of-function of IFN signals (e.g., JAK mutation) induces adaptive immune resistance in patients with low-response rate. Interferon regulatory factors (IRF) are frequently epigenetic silenced in carcinogenesis, while the role of methylation in anti-PD-1/L1 therapy remains unclear. We here investigated the methylation status of IFN-γ related genes IRF1/8 and IFN-α/β-related genes IRF3/7 in lung cancer tissues and found that only highly methylated IRF1 and 7 negatively correlated to cd274 (coding PD-L1) expression, similar to JAK mutation...
February 9, 2018: Oncogene
https://www.readbyqxmd.com/read/29422066/genome-wide-analyses-reveal-a-role-of-polycomb-in-promoting-hypomethylation-of-dna-methylation-valleys
#16
Yuanyuan Li, Hui Zheng, Qiujun Wang, Chen Zhou, Lei Wei, Xuehui Liu, Wenhao Zhang, Yu Zhang, Zhenhai Du, Xiaowo Wang, Wei Xie
BACKGROUND: Previous studies showed that the majority of developmental genes are devoid of DNA methylation at promoters even when they are repressed. Such hypomethylated regions at developmental genes are unusually large and extend well beyond proximal promoters, forming DNA methylation valleys (DMVs) or DNA methylation canyons. However, it remains elusive how most developmental genes can evade DNA methylation regardless of their transcriptional states. RESULTS: We show that DMVs are hypomethylated in development and are highly conserved across vertebrates...
February 8, 2018: Genome Biology
https://www.readbyqxmd.com/read/29421584/effective-long-term-solution-to-therapeutic-remission-in-inflammatory-bowel-disease-role-of-azathioprine
#17
REVIEW
Lyla Adam, Alisa Phulukdaree, Prashilla Soma
Azathioprine (AZA) is a well-known immunosuppressant used for many years for its ability to ensure long term disease remission in inflammatory bowel diseases (IBD) at an affordable cost to the public. However, the side effect profile has raised many concerns with numerous investigations into the risk, cause and prevention of these effects. Much of the side effect profile of AZA can be linked to a single nucleotide polymorphism (SNP) in the thiopurine methyltransferase (TPMT) gene which ensures the breakdown and efficacy of AZA...
February 5, 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29420738/transcription-associated-mutation-promotes-rna-complexity-in-highly-expressed-genes-a-major-new-source-of-selectable-variation
#18
Shengkai Pan, Michael W Bruford, Yusong Wang, Zhenzhen Lin, Zhongru Gu, Xian Hou, Xuemei Deng, Andrew Dixon, Jennifer A Marshall Graves, Xiangjiang Zhan
Alternatively spliced transcript isoforms are thought to play a critical role for functional diversity. However, the mechanism generating the enormous diversity of spliced transcript isoforms remains unknown, and its biological significance remains unclear. We analyzed transcriptomes in saker falcons, chickens and mice to show that alternative splicing occurs more frequently, yielding more isoforms, in highly expressed genes. We focused on hemoglobin in the falcon, the most abundantly expressed genes in blood, finding that alternative splicing produces tenfold more isoforms than expected from the number of splice junctions in the genome...
February 6, 2018: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/29419855/-clinical-report-of-testicular-hypoplasia-combined-with-21-hydroxylase-deficiency
#19
Bo Jiang, Dingyuan Ma, Huanhuan Chen, Xiaoyu Yang, Yugui Cui, Zhengfeng Xu, Jiayin Liu
OBJECTIVE To investigate the correlation of 21-hydroxylase deficiency (21-OHD) with male testicular dysplasia. METHODS Clinical data of 8 infertile males with congenital adrenal hyperplasia due to 21-OHD was retrospectively analyzed. In addition, potential mutations of the CYP21A2 gene was detected. RESULTS All patients were referred because of azoospermia or severe oligospermia and had small testis with averaged testicular volume of 6.1 mL. Three patients had testicular adrenal rest tumors. Endocrinologic examinations revealed low levels of leutinizing hormone and follicular stimulating hormone, normal or elevated testosterone, elevated progesterone, elevated or normal adrenocoticotropic hormone, and low or normal cortisol...
February 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29419415/spliceosomal-components-protect-embryonic-neurons-from-r-loop-mediated-dna-damage-and-apoptosis
#20
Shelly Sorrells, Sara Nik, Mattie Casey, Rosannah C Cameron, Harold Truong, Cristhian Toruno, Michelle Gulfo, Albert Lowe, Cicely Jette, Rodney A Stewart, Teresa V Bowman
RNA splicing factors are essential for the viability of all eukaryotic cells; however, in metazoans some cell types are exquisitely sensitive to disruption of splicing factors, such as neuronal cells which can lead to neurodegenerative diseases. The basis for this tissue selectivity is not well understood due to difficulties in analyzing the consequences of splicing factor defects in whole animal systems. Here, we use zebrafish mutants to show that loss of spliceosomal components, including splicing factor 3b, subunit 1 (sf3b1), caused increased DNA double-strand breaks and apoptosis in embryonic neurons with a concomitant accumulation of R-loops, which are non-canonical nucleic acid structures that promote genomic instability...
January 29, 2018: Disease Models & Mechanisms
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